Publications from projects to which the SNP&SEQ Technology Platform in Uppsala has contributed:

Behavioural and mental disorders

N Karlsson R, Graae L, Lekman M, Wang D, Favis R, Axelsson T, Galter D, Carmine Belin A, Paddock S (2012) MAGI1 Copy Number Variation in Bipolar Affective Disorder and Schizophrenia. Biol Psychiatry 71(10), 922-930

Hong M-G, Reynolds CA, Feldman AL, Kallin M, Lambert J-C, Amouyel P, Ingelsson E, Pedersen NL, Prince JA (2012) Genome-wide and gene-based association implicates FRMD6 in Alzheimer disease. Hum Mutat 33(3), 521-529

Jönsson EG, Saetre P, Nyholm H, Djurovic S, Melle I, Andreassen OA, Skjødt C, Thygesen JH, Werge T, Hall H, Agartz I, Terenius L (2012) Lack of association between the regulator of G-protein signaling 4 (RGS4) rs951436 polymorphism and schizophrenia. Psychiatr Genet. 2011 Dec 12. [Epub ahead of print]

Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Bettens K, Sleegers K, Tan EK, Kimura R, Shibata N, Kamboh I, Prince JA, Maier W, Riemenschneider M, Owen MJ, Harold D, Hollingworth P, Cellini E, Takeda M, Pericak-Vance MA, Younkin S, Williams J, van Broeckhoven C, Farrer LA, St.George-Hyslop P, Mayeux R (2011) A meta-analysis of the association between genetic variants in SORL1 and Alzheimer's disease. Arch Neurol 68(1):99-106

Reynolds CA, Gatz M, Pedersen NL, Prince JA (2011) An assessment of CETP sequence variation in relation to cognitive decline and dementia risk. Int J Mol Epidemiol Genet. 2(2):122-9

Bennet AM, Reynolds CA, Eriksson UK, Hong MG, Blennow K, Gatz M, Alexeyenko A, Pedersen NL, Prince JA. (2011) Genetic association of sequence variants near AGER/NOTCH4 and dementia. J Alzheimers Dis. 24(3):475-84

Eriksson UK, Pedersen NL, Reynolds CA, Hong MG, Prince JA, Gatz M, Dickman PW, Bennet AM (2011) Associations of gene sequence variation and serum levels of C-reactive protein and interleukin-6 with Alzheimer's disease and dementia. J Alzheimers Dis. 23(2):361-9

Ben-Efraim YJ, Wasserman D, Wasserman J, Sokolowski M (2011) Gene–environment interactions between CRHR1 variants and physical assault in suicide attempts. Genes, Brain and Behavior 10(6):663–672

Andreou D, Saetre P, Kähler AK, Werge T, Andreassen OA, Agartz I, Sedvall GC, Hall H, Terenius L, Jönsson EG (2011) Dystrobrevin-binding protein 1 gene (DTNBP1) variants associated with cerebrospinal fluid homovanillic acid and 5-hydroxyindole acetic acid concentrations in healthy volunteers. Eur Neuropsychopharmacol, 21:700-704

Bennet AM, Reynolds CA, Gatz M, Blennow K, Pedersen NL, Prince JA (2010) Pleiotropy in the presence of allelic heterogeneity: alternative genetic models for the influence of APOE on serum LDL, CSF amyloid-ß42, and dementia. J Alzheimers Dis, 22:129-134

Caprini S, Saetre P, Melle I, Djurovic S, Andreassen OA, Skjødt C, Duong L, Werge T, Hall H, Agartz I, Terenius L, Jönsson EG (2011) Lack of association between two dopamine D2 receptor gene (DRD2) polymorphisms and schizophrenia. Psychiatr Genet, 21:214-215

Haukvik UK, Saetre P, McNeil T, Bjerkan PS, Andreassen OA, Werge T, Jönsson EG, Agartz I (2010) An exploratory model for G x E interaction on hippocampal volume in schizophrenia; obstetric complications and hypoxia-related genes. Prog Neuropsychopharmacol Biol Psychiatry, 34:1259-1265

Holtze M, Saetre P, Erhardt S, Schwieler L, Werge T, Hansen T, Nielsen J, Djurovic S, Melle I, Andreassen OA, Hall H, Terenius L, Agartz I, Engberg G, Jönsson EG, Schalling M (2011) Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: an association study. Schizophr Res, 127:270–27

Reynolds CA, Hong MG, Eriksson UK, Blennow K, Johansson B, Malmberg B, Berg S, Gatz M, Pedersen NL, Bennet AM, Prince JA (2010) Sequence variation in SORL1 and dementia risk in Swedes. Neurogenetics, 11:139-142

Reynolds CA, Hong MG, Eriksson UK, Blennow K, Wiklund F, Johansson B, Malmberg B, Berg S, Alexeyenko A, Grönberg H, Gatz M, Pedersen NL, Prince JA (2010) Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. Hum Mol Genet, 19:2068-2078

Sokolowski M, Wasserman J, Wasserman D (2010) Association of polymorphisms in the SLIT2 axonal guidance gene with anger in suicide attempters. Mol Psychiatry, 15:10-11

Tesli M, Athanasiu L, Mattingsdal M, Kähler AK, Gustafsson O, Andreassen BK, Werge T, Hansen T, Mors O, Mellerup E, Koefoed P, Jönsson EG, Agartz I, Melle I, Morken G, Djurovic S, Andreassen OA (2010) Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample. Am J Med Genet, Part B, Neuropsychiatr Genet 153B:1276-1282

Wasserman D, Terenius L, Wasserman J, Sokolowski M (2010) The 2009 Nobel conference on the role of genetics in promoting suicide prevention and the mental health of the population. Mol Psychiatry, 15:12-17

Wasserman D, Wasserman J, Sokolowski M (2010) Genetics of HPA-axis, depression and suicidality. Eur Psychiatry, 25:278-280

Andreou D, Saetre P, Lundmark P, Hansen T, Timm S, Melle I, Djurovic S, Andreassen OA, Werge T, Hall H, Agartz I, Terenius L, Jönsson EG (2009) Tyrosine hydroxylase Val81Met polymorphism: lack of association with schizophrenia. Psychiatr Genet, 19:273-274

Andreou D, Saetre P, Werge T, Andreassen OA, Agartz I, Sedvall GC, Hall H, Terenius L, Jönsson EG (2010) Tryptophan hydroxylase gene 1 (TPH1) variants associated with cerebrospinal fluid 5-hydroxyindole acetic acid and homovanillic acid concentrations in healthy volunteers. Psychiatry Research, 180:63-67

Djurovic S, Hellard S, Kähler A, Jönsson E, Agartz I, Steen V, Hall H, Wang A, Rasmussen H, Melle I, Werge T, Andreassen O (2009) Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). Psychiatry Research, 168:256-258

Jönsson EG, Saetre P, Vares M, Andreou D, Larsson K, Timm S, Rasmussen HB, Djurovic S, Melle I, Andreassen OA, Agartz I, Werge T, Hall H, Terenius L (2009) DTNBP1, NRG1, DAOA, DAO and GRM3 polymorphisms and schizophrenia: an association study. Neuropsychobiology, 12:142-150

Kähler AK, Otnæss M, Wirgenæs K, Hansen T, Jönsson EG, Agartz I, Hall H, Werge T, Morken G, Mors O, Mellerup E, Dam H, Koefod P, Melle I, Steen VM, Andreassen OA, Djurovic S (2009) Association study of PDE4B gene variants in Scandinavian schizophrenia and bipolar disorder multicenter case-control samples. Am J Med Genet, Part B, Neuropsychiatr Genet 153B:86-96

Otnæss MK, Rimol LM, Kulle B, Kähler AK, Jönsson EG, Agartz I, Sundet K, Hall H, Timm S, Hansen T, Callicott JH, Melle I, Werge T, Andreassen OA, Djurovic S (2009) Evidence for a possible association of neurotrophin receptor (NTRK-3) gene polymorphisms with hippocampal function and schizophrenia. Neurobiology of Disease, 34:518-524

Reynolds CA, Hong MG, Eriksson UK, Blennow K, Bennet AM, Johansson B, Malmberg B, Berg S, Wiklund F, Gatz M, Pedersen NL, Prince JA (2009) A survey of ABCA1 sequence variation confirms association with dementia. Hum Mutat, 30:1348-1354

Saetre P, Lundmark P, Wang A, Hansen T, Rasmussen HB, Djurovic S, Melle I, Andreassen OA, Werge T, Agartz I, Hall H, Terenius L, Jönsson EG (2009) The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility and suicidal behavior: a multi-centre case-control study and meta-analysis. Am J Med Genet, Part B, Neuropsychiatr Genet 153B:387-396

Vares M, Saetre P, Deng H, Cai G, Liu X, Hansen T, Rasmussen HB, Werge T, Melle I, Djurovic S, Andreassen OA, Agartz I, Hall H, Terenius L, Jönsson EG (2009) Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia. Am J Med Genet, Part B, Neuropsychiatr Genet 153B:610-618

Wasserman D, Wasserman J, Rozanov V, Sokolowski M (2009) Depression in suicidal males: genetic risk variants in the CRHR1 gene. Genes Brain Behav, 8:72-79

Wirgenes KV, Djurovic S, Agartz I, Jönsson EG, Werge T, Melle I, Andreassen OA (2009) Dysbindin and D-Amino-Acid-Oxidase Gene Polymorphisms Associated with Positive and Negative Symptoms in Schizophrenia. Neuropsychobiology, 60:31-36

Giedraitis V, Kilander L, Degerman-Gunnarsson M, Sundelöf J, Axelsson T, Syvänen AC, Lannfelt L, Glaser A (2009) Genetic Analysis of Alzheimer’s Disease in a Uppsala Longitudinal Study of Adult Men. Dementia and Geriatric Cognitive Disorders, 27:59-68

Djurovic S, Kähler A, Kulle B, Jönsson E, Agartz I, Le Hellard S, Hall H, Jakobsen K, Hansen T, Melle I, Werge T, Steen V, Andreassen O (2008) A possible association between schizophrenia and GRIK3 polymorphisms in a multicenter sample of Scandinavian origin (SCOPE). Schizophrenia Research, 107:242-248

Jönsson EG, Larsson K, Vares M, Hansen T, Wang AG, Djurovic S, Rønningen KS, Andreassen OA, Agartz I, Werge T, Terenius L, Hall H (2008) Two methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms, schizophrenia and bipolar disorder: an association study. Am J Med Genet, Part B, Neuropsychiatr Genet 147B:976-982

Kähler A, Djurovic S, Kulle B, Jönsson EG, Agartz I, Hall H, Opjordsmoen S, Jakobsen KD, Hansen T, Melle I, Steen VM, Werge T, Andreassen OA (2008) Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene. Am J Med Genet, Part B, Neuropsychiatr Genet 147B:1089-100

Olsen L, Hansen T, Jakobsen KD, Djurovic S, Melle I, Agartz I, Hall H, Ullum H, Timm S, Wang AG, Jönsson EG, Andreassen OA, Werge T (2008) The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples. BMC Medical Genetics, 9:39

Saetre P, Agartz I, De Franciscis A, Lundmark P, Djurovic S, Kähler A, Andreassen OA, Jakobsen KD, Rasmussen HB, Werge T, Hall H, Terenius L, Jönsson EG (2008) Association between a disrupted-in-schizophrenia 1 (DISC1) single nucleotide polymorphism and schizophrenia in a combined Scandinavian case control sample. Schizophrenia Research, 106:237-241

Hansen T, Olsen L, Lindow M, Jakobsen KD, Ullum H, Jonsson E, Andreassen OA, Djurovic S, Mjelle I, Agartz I, Hall H, Timm S, Wang AG, Werge T (2007) Brain Expressed microRNAs Implicated in Schizophrenia Etiology. PLoS ONE, 2:e873

 

Cancer

Lundin E, Wirgin I, Lukanova A, Afanasyeva Y, Krogh V, Axelsson T, Hemminki K, Clendenen TV, Arslan AA, Ohlson N, Sieri S, Roy N, Koenig KL, Idahl A, Berrino F, Toniolo P, Hallmans G, Försti A, Muti P, Lenner P, Shore RE, Zeleniuch-Jacquotte A (2012) Selected Polymorphisms in Sex Hormone-Related Genes, Circulating Sex Hormones and Risk of Endometrial Cancer. Cancer Epidemiology 2012 [Manuscript accepted]

Halldórsdóttir AM, Kanduri M, Marincevic M, Mansouri L, Isaksson A, Göransson H, Axelsson T, Agarwal P, Jernberg-Wiklund H, Stamatopoulos K, Sander B, Ehrencrona H, Rosenquist R (2012) Mantle cell lymphoma displays a homogenous methylation profile: A comparative analysis with chronic lymphocytic leukemia. American Journal of Hematology, 87(4):361-367

Dumanski JP and Piotrowski A (2012) Structural Genetic Variation in the Context of Somatic Mosaicism, in Methods Mol Bio (ed J. M. Walker), Vol. 838, pp 249-272 (2012, Springer New York)

Nord H, Pfeifer S, Nilsson P, Sandgren J, Popova S, Strömberg B, Alafuzoff I, Nistér M, Díaz de Ståhl T. (2012) Novel amplifications in pediatric medulloblastoma identified by genome-wide copy number profiling. J Neurooncol. 107(1), 37-49

Juko-Pecirep I, Ivansson EL, Gyllensten UB. (2011) Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility. Gynecol Oncol. 2011 Aug;122(2):377-81

Carén H, Djos A, Nethander M, Sjöberg R-M, Enström C, Nilsson S and Martinsson T (2011) Identification of epigenetically regulated genes that predict patient outcome in neuroblastoma. BMC Cancer, 11:66

Cunningham JL, Díaz de Ståhl T, Sjöblom T, Westin G, Dumanski JP, Janson ET (2011) Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors. Genes Chromosomes Cancer, 50:82-94

Edvardsen H, Brunsvig PF, Solvang H, Tsalenko A, Andersen A, Syvänen AC, Yakhini Z, Børresen-Dale AL, Olsen H, Aamdal S, Kristensen VN (2010) SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance. Pharmacogenomics J, 10:513-523

Hellström AR, Sundström E, Gunnarsson U, Bed'Hom B, Tixier-Boichard M, Honaker CF, Sahlqvist AS, Jensen P, Kämpe O, Siegel PB, Kerje S, Andersson L (2010) Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus. Pigment Cell Melanoma Res, 23:521-530

Kanduri M, Cahill N, Göransson H, Enström C, Ryan F, Isaksson A, Rosenquist R (2010) Differential genome-wide array-based methylation profiles in prognostic subsets of chronic lymphocytic leukemia. Blood, 115:296-305

Razzaghian HR, Shahi MH, Forsberg LA, Diaz de Ståhl T, Absher D, Dahl N, Westerman MP, Dumanski JP (2010) Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet, 152A:2595-2598 

Landi MT, Chatterjee N, Yu K, Goldin LR, Goldstein AM, Rotunno M, Mirabello L, Jacobs K, Wheeler W, Yeager M, Bergen AW, Li Q, Consonni D, Pesatori AC, Wacholder S, Thun M, Diver R, Oken M, Virtamo J, Albanes D, Wang Z, Burdette L, Doheny KF, Pugh EW, Laurie C, Brennan P, Hung R, Gaborieau V, McKay JD, Lathrop M, McLaughlin J, Wang Y, Tsao MS, Spitz MR, Wang Y, Krokan H, Vatten L, Skorpen F, Arnesen E, Benhamou S, Bouchard C, Metsapalu A, Vooder T, Nelis M, Välk K, Field JK, Chen C, Goodman G, Sulem P, Thorleifsson G, Rafnar T, Eisen T, Sauter W, Rosenberger A, Bickeböller H, Risch A, Chang-Claude J, Wichmann HE, Stefansson K, Houlston R, Amos CI, Fraumeni JF Jr, Savage SA, Bertazzi PA, Tucker MA, Chanock S, Caporaso NE (2009) A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet, 85:679-691

Milani L, Lundmark A, Kiialainen A, Nordlund J, Flaegstad T, Forestier E, Heyman M, Jonmundsson G, Kanerva J, Schmiegelow K, Söderhäll S, Gustafsson MG, Lönnerholm G, Syvänen AC (2009) DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia. Blood, 115:1214-1225

McKay J, Hung R, Gaborieau V, Boffetta P, Chabrier A, Byrnes G, Zaridze D, Mukeria A, Szeszenia-Dabrowska N,Lissowska J, Rudnai P, Fabianova E,Mates D, Bencko V, Foretova L, Janout V, McLaughlin J, Shepherd F, Montpetit A, Narod S, Krokan H, Skorpen F, Elvestad M, Vatten L,Njølstad I, Axelsson T, Chen C, Goodman G, Barnett M, Loomis M,Lubinski J, Matyjasik J, Lener M, Oszutowska D, Field J, Liloglou T, Xinarianos G, Cassidy A, EPIC Study, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M, Brennan P (2008) Lung cancer susceptibility locus at 5p15.33. Nat Gen, 40:1404-1406

Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, Tjønneland A, Olsen A, Syvänen AC, Andersen CL, Ørntoft TF (2008) The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population BMC Med Genet 9(52), 13

Nordgard SH, Johansen FE, Alnæs GIG, Bucher E, Syvänen A-C, Naume B, Børresen-Dale A-L, Kristensen VN (2008) Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. Genes Chromosomes Cancer, 47:680-696

Kaderi MA, Norberg M, Murray F, Merup M, Sundström C, Roos G, Åleskog A, Karlsson K, Axelsson T, Tobin G, Rosenquist R (2008) The BCL-2 promoter (-938C>A) polymorphism does not predict clinical outcome in chronic lymphocytic leukemia. Leukemia, 22:339-343

Berglund M, Amini R-M, Book M, Rosenquist R, Roos G, Thunberg U (2006) Subtype preference of the BCL6 (397G/C) polymorphism in germinal centre and non-germinal centre subtypes of diffuse large B-cell lymphoma. Blood, 108:3623-3624

Kristensen VN, Edvardsen H, Tsalenko A, Nordgard S, Sørlie T, Sharan R, Vailaya A, , Ben-Dor A Lønning P.E, Lien S, Omholt S, Syvänen A-C, Yakhini Z and Børresen-Dale A-L (2006) Genetic variation in putative regulatory loci controlling gene expression in breast cancer. Proc Natl Acad Sci, 103:7735-7740

Berglund M, Thunberg U, Roos G, Rosenquist R, Enblad G (2005) The interleukin-10 gene promoter polymorphism (-1082) does not correlate with clinical outcome in diffuse large B-cell lymphoma. Blood, 105:4894-4895

Wedren S, Lovmar L, Humphreys K, Magnusson C, Melhus H, Syvanen A-C, Kindmark A, Landegren U, Fermer ML, Stiger F, Persson I, Baron J, Weiderpass E (2004) Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study. Breast Cancer Res, 6:R437-449

 

Cardiovascular disease

Chernogubova E, Strawbridge R, Mahdessian H, Mälarstig A, Krapivner S, Gigante B, Hellénius M-L, de Faire U, Franco-Cereceda A, Syvänen A-C, Troutt JS, Konrad RJ, Eriksson P, Hamsten A, van’t Hooft FM (2012) Common and Low-Frequency Genetic Variants in the PCSK9 Locus Influence Circulating PCSK9 Levels. Arterioscler Thromb Vasc Biol [Epub ahead of print]

IL6R_Genetics_Consortium_Emerging_Risk_Factors_Collaboration, Sarwar N, Butterworth AS, Freitag DF, Gregson J, Willeit P, Gorman DN, Gao P, Saleheen D, Rendon A, Nelson CP, Braund PS, Hall AS, Chasman DI, Tybjærg-Hansen A, Chambers JC, Benjamin EJ, Franks PW, Clarke R, Wilde AAM, Trip MD, Steri M, Witteman JCM, Qi L, Schoot CEvd, Faire Ud, Erdmann J, Stringham HM, Koenig W, Rader DJ, Melzer D, Reich D, Psaty BM, Kleber ME, Panagiotakos DB, Willeit J, Wennberg P, Woodward M, Adamovic S, Rimm EB, Meade TW, Gillum RF, Shaffer JA, Hofman A, Onat A, Sundström J, Wassertheil-Smoller S, Mellström D, Gallacher J, Cushman M, Tracy RP, Kauhanen J, Karlsson M, Salonen JT, Wilhelmsen L, Amouyel P, Cantin B, Best LG, Ben-Shlomo Y, Manson JE, Davey-Smith G, Bakker PIWd, O'Donnell CJ, Wilson JF, Wilson AG, Assimes TL, Jansson J-O, Ohlsson C, Tivesten Å, Ljunggren Ö, Reilly MP, Hamsten A, Ingelsson E, Cambien F, Hung J, Thomas GN, Boehnke M, Schunkert H, Asselbergs FW, Kastelein JJP, Gudnason V, Salomaa V, Harris TB, Kooner JS, Allin KH, Nordestgaard BG, Hopewell JC, Goodall AH, Cardiogenics_Consortium, Ridker PM, Hólm H, Watkins H, Ouwehand WH, Samani NJ, Kaptoge S, Angelantonio ED, Harari O, Danesh J (2012) Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. The Lancet 379(9822), 1205-1213

Debette S, Visvikis-Siest S, Chen M-H, Ndiaye N-C, Song C, Destefano A, Safa R, Azimi Nezhad M, Sawyer D, Marteau J-B, Xanthakis V, Siest G, Sullivan L, Pfister M, Smith H, Choi S-H, Lamont J, Lind L, Yang Q, Fitzgerald P, Ingelsson E, Vasan RS, Seshadri S (2011) Identification of cis- and trans-Acting Genetic Variants Explaining Up to Half the Variation in Circulating Vascular Endothelial Growth Factor Levels. Circ Res 109(5), 554-563

Tjärnlund-Wolf A, Olsson S, Jood K, Blomstrand C, Jern C. (2011) No evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke. J Neurol. 258(10):1885-7

Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges-Armstrong LM; Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic Investigation of Anthropometric Traits (GIANT) Consortium; Global Lipids Genetics Consortium; Genetics of Liver Disease (GOLD) Consortium; International Consortium for Blood Pressure (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits Consortium (MAGIC), Abecasis GR, Ahmadi KR, Boomsma DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K, McCarthy MI, Meisinger C, Mooser V, Pietiläinen KH, Schumann G, Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U, Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield JB, Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M, Stefansson K, Vollenweider P, Völzke H, Schadt EE, Scott J, Järvelin MR, Elliott P, Kooner JS. (2011) Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet. 43(11):1131-8

Johnson T, Gaunt Tom R, Newhouse Stephen J, Padmanabhan S, Tomaszewski M, Kumari M, Morris Richard W, Tzoulaki I, O'Brien Eoin T, Poulter Neil R, Sever P, Shields Denis C, Thom S, Wannamethee Sasiwarang G, Whincup Peter H, Brown Morris J, Connell John M, Dobson Richard J, Howard Philip J, Mein Charles A, Onipinla A, Shaw-Hawkins S, Zhang Y, Smith George D, Day Ian NM, Lawlor Debbie A, Goodall Alison H, The_Cardiogenics_consortium, Fowkes FG, Abecasis Gonçalo R, Elliott P, Gateva V, The_Global_BPgen_Consortium, Braund Peter S, Burton Paul R, Nelson Christopher P, Tobin Martin D, van der Harst P, Glorioso N, Neuvrith H, Salvi E, Staessen Jan A, Stucchi A, Devos N, Jeunemaitre X, Plouin P-F, Tichet J, Juhanson P, Org E, Putku M, Sõber S, Veldre G, Viigimaa M, Levinsson A, Rosengren A, Thelle Dag S, Hastie Claire E, Hedner T, Lee Wai K, Melander O, Wahlstrand B, Hardy R, Wong A, Cooper Jackie A, Palmen J, Chen L, Stewart Alexandre FR, Wells George A, Westra H-J, Wolfs Marcel GM, Clarke R, Franzosi Maria G, Goel A, Hamsten A, Lathrop M, Peden John F, Seedorf U, Watkins H, Ouwehand Willem H, Sambrook J, Stephens J, Casas J-P, Drenos F, Holmes Michael V, Kivimaki M, Shah S, Shah T, Talmud Philippa J, Whittaker J, Wallace C, Delles C, Laan M, Kuh D, Humphries Steve E, Nyberg F, Cusi D, Roberts R, Newton-Cheh C, Franke L, Stanton Alice V, Dominiczak Anna F, Farrall M, Hingorani Aroon D, Samani Nilesh J, Caulfield Mark J and Munroe Patricia B (2011) Blood Pressure Loci Identified with a Gene-Centric Array. Am J Hum Genet 89(6), 688-700

Olsson S, Stokowska A, Holmegaard L, Jood K, Blomstrand C, Pekna M, Jern C (2011) Genetic variation in complement component C3 shows association with ischaemic stroke. Eur J Neurol. 18(10):1272-4

Olsson S, Jood K, Melander O, Sjögren M, Norrving B, Nilsson M, Lindgren A, Jern C (2011) Lack of association between genetic variations in the KALRN region and ischemic stroke. Clin Biochem. 44(12):1018-20

S. Olsson, K. Jood, C. Blomstrand, C. Jern (2011) Genetic variation on chromosome 9p21 shows association with the ischaemic stroke subtype large-vessel disease in a Swedish sample aged ≤70. Eur J Neurol. 18(2):365-7

The IBC 50K CAD Consortium (2011) Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease. PLoS Genet. 7(9): e1002260

Popov S, Silveira A, Wågsäter D, Takemori H, Oguro R, Matsumoto S, Sugimoto K, Kamide K, Hirose T, Satoh M, Metoki H, Kikuya M, Ohkubo T, Katsuya T, Rakugi H, Imai Y, Sanchez F, Leosdottir M, Syvänen AC, Hamsten A, Melander O, Bertorello AM (2011) Salt-inducible kinase 1 influences Na⁺,K⁺-ATPase activity in vascular smooth muscle cells and associates with variations in blood pressure. J Hypertens. 29(12):2395-2403

The Coronary Artery Disease (C4D) Genetics Consortium; Steering and Writing committee, Peden JF, Hopewell JC, Saleheen D, Chambers JC, Hager J, Soranzo N, Collins R, Danesh J, Elliott P, Farrall M, Stirrups K, Zhang W, Hamsten A, Parish S, Lathrop M, Watkins H Chair, Clarke R, Deloukas P, Kooner JS; Statistical genetics and bioinformatics, Goel A, Ongen H, Strawbridge RJ, Heath S, Mälarstig A, Helgadottir A, Ohrvik J, Murtaza M, Potter S, Hunt SE; Genotyping, Delepine M, Jalilzadeh S, Axelsson T, Syvanen AC, Gwilliam R, Bumpstead S, Gray E, Edkins S; Expression QTL analyses, Folkersen L, Kyriakou T, Franco-Cereceda A, Gabrielsen A, Seedorf U; the MuTHER consortium, Eriksson P; Discovery cohorts, Offer A, Bowman L, Sleight P, Armitage J, Peto R, Abecasis G, Ahmed N, Caulfield M, Donnelly P, Froguel P, Kooner AS, McCarthy MI, Samani NJ, Scott J, Sehmi J, Silveira A, Hellénius ML, van 't Hooft FM, Olsson G, Rust S, Assmann G, Barlera S, Tognoni G, Franzosi MG, Linksted P, Green FR, Rasheed A, Zaidi M, Shah N, Samuel M, Mallick NH, Azhar M, Zaman KS, Samad A, Ishaq M, Gardezi AR, Memon FU, Frossard PM; Replication cohorts, Spector T, Peltonen L, Nieminen MS, Sinisalo J, Salomaa V, Ripatti S, Bennett D, Leander K, Gigante B, de Faire U, Pietri S, Gori F, Marchioli R, Sivapalaratnam S, Kastelein JJ, Trip MD, Theodoraki EV, Dedoussis GV, Engert JC, Yusuf S, Anand SS (2011) A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet, 43:339-344

Smith NL, Chen MH, Dehghan A, Strachan DP, Basu S, Soranzo N, Hayward C, Rudan I, Sabater-Lleal M, Bis JC, de Maat MP, Rumley A, Kong X, Yang Q, Williams FM, Vitart V, Campbell H, Mälarstig A, Wiggins KL, Van Duijn CM, McArdle WL, Pankow JS, Johnson AD, Silveira A, McKnight B, Uitterlinden AG; Wellcome Trust Case Control Consortium;, Aleksic N, Meigs JB, Peters A, Koenig W, Cushman M, Kathiresan S, Rotter JI, Bovill EG, Hofman A, Boerwinkle E, Tofler GH, Peden JF, Psaty BM, Leebeek F, Folsom AR, Larson MG, Spector TD, Wright AF, Wilson JF, Hamsten A, Lumley T, Witteman JC, Tang W, O'Donnell CJ. (2010) Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation 121(12):1382-92

Folkersen L, van't Hooft F, Chernogubova E, Agardh HE, Hansson GK, Hedin U, Liska J, Syvänen AC, Paulssson-Berne G, Franco-Cereceda A, Hamsten A, Gabrielsen A, Eriksson P; BiKE and ASAP study groups (2010) Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease. Circ Cardiovasc Genet, 3:365-373

Ikram MK, Xueling S, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, Wang JJ, Klein R, Klein BE, Breteler MM, Cheung N, Liew G, Mitchell P, Uitterlinden AG, Rivadeneira F, Hofman A, de Jong PT, van Duijn CM, Kao L, Cheng CY, Smith AV, Glazer NL, Lumley T, McKnight B, Psaty BM, Jonasson F, Eiriksdottir G, Aspelund T; Global BPgen Consortium, Harris TB, Launer LJ, Taylor KD, Li X, Iyengar SK, Xi Q, Sivakumaran TA, Mackey DA, Macgregor S, Martin NG, Young TL, Bis JC, Wiggins KL, Heckbert SR, Hammond CJ, Andrew T, Fahy S, Attia J, Holliday EG, Scott RJ, Islam FM, Rotter JI, McAuley AK, Boerwinkle E, Tai ES, Gudnason V, Siscovick DS, Vingerling JR, Wong TY (2010) Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet, 6:e1001184

Tabara Y, Kohara K, Kita Y, Hirawa N, Katsuya T, Ohkubo T, Hiura Y, Tajima A, Morisaki T, Miyata T, Nakayama T, Takashima N, Nakura J, Kawamoto R, Takahashi N, Hata A, Soma M, Imai Y, Kokubo Y, Okamura T, Tomoike H, Iwai N, Ogihara T, Inoue I, Tokunaga K, Johnson T, Caulfield M, Munroe P; Global Blood Pressure Genetics Consortium, Umemura S, Ueshima H, Miki T (2010) Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project. Hypertension, 56:973-980

Uronen R-L, Lundmark P, Orho-Melander M, Jauhiainen M, Larsson K, Siegbahn A, Wallentin L, Zethelius B, Melander O, Syvänen A-C, Ikonen E (2010) NPC1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels. Arterioscler Thromb Vasc Biol:1614-1620

Helmersson J, Ärnlöv J, Axelsson T, Basu S (2009) A polymorphism in the cyclooxygenase 1 gene is associated with decreased inflammatory prostaglandin F2a formation and lower risk of cardiovascular disease. Prostaglandins, Leukot Essent Fatty Acids, 80:51-56

Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M et al (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Gen, 41:666-667

Dahlgren A, Lundmark P, Axelsson T, Lind L, & Syvänen A-C (2008) Association of the Estrogen Receptor 1 (ESR1) Gene with Body Height in Adult Males from Two Swedish Population Cohorts. PLoS ONE, 3:e1807

Ingelsson E, Syvänen AC, Lind L (2008) Endothelium-dependent vasodilation in conduit and resistance vessels in relation to the endothelial nitric oxide synthase gene. J Hum Hypertens, 22:569-78

Ingelsson E, Syvänen A-C, Lind L (2008) Polymorphisms in the estrogen receptor alpha gene and endothelial function in resistance and conduit arteries in the elderly. Atherosclerosis, 199:162-171

Mälarstig A, Sigurdsson S, Eriksson P, Paulsson-Berne G, Hedin U, Wallentin L, Siegbahn A, Hamsten A, & Syvänen A-C (2008) Variants of the Interferon Regulatory Factor 5 Gene Regulate Expression of IRF5 mRNA in Atherosclerotic Tissue but Are Not Associated With Myocardial Infarction. Arterioscler Thromb Vasc Biol, 28:975-982

Schunkert H, Götz A, Braund P, McGinnis R, Tregouet DA, Mangino M, Linsel-Nitschke P, Cambien F, Hengstenberg C, Stark K, Blankenberg S, Tiret L, Ducimetiere P, Keniry A, Ghori MJ, Schreiber S, El Mokhtari NE, Hall AS, Dixon RJ, Goodall AH, Liptau H, Pollard H, Schwarz DF, Hothorn LA, Wichmann HE, König IR, Fischer M, Meisinger C, Ouwehand W, Deloukas P, Thompson JR, Erdmann J, Ziegler A, Samani NJ; Cardiogenics Consortium including Syvänen A-C, Axelsson T, Liljedahl U (2008) Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation, 117:1675-84

Auro K, Kristiansson K, Zethelius B, Berne C, Lannfelt L, Taskinen M-R, Jauhiainen M, Perola M, Peltonen L, Syvänen A-C (2007) USF1 gene variants contribute to metabolic traits in men in a longitudinal 32-year follow-up study. Diabetologia, 51:464-472

Mälarstig A, Eriksson P, Hamsten A, Lindahl B, Wallentin L, Siegbahn A (2007) Raised Interleukin-10 is an indicator of poor outcome and enhanced systemic inflammation in patients with acute coronary syndrome. Heart, 94:724-729

Mälarstig A, Siegbahn A (2007) The intersubject variability of tissue factor mRNA production in human monocytes-relation with toll-like receptor 4. Thromb Res, 120:407-413

Mälarstig A, Wallentin L, Siegbahn A (2007) Genetic variation in the interleukin-6 gene in relation to risk and outcomes in acute coronary syndrome. Thromb Res, 119:467-473

Wohlin M, Sundström J, Lannfelt L, Axelsson T, Syvänen A-C, Andrén B, Basu S, Lind L (2007) Apolipoprotein E epsilon4 genotype is independently associated with increased intima-media thickness in a recessive pattern. Lipids, 42:451-456

Ingelsson E, Berne C, Risérus U, Frystyk J, Flyvbjerg A, Axelsson T, Lundmark P, Zethelius B (2006) Adiponectin and Risk of Congestive Heart Failure. JAMA, 295:1772-1774

Mälarstig A, Lindahl B, Wallentin L, Siegbahn A (2006) Soluble CD40L levels are regulated by the -3459 A>G polymorphism and predict myocardial infarction and the efficacy of anti-thrombotic treatment in non-ST elevation acute coronary syndrome. Arterioscler Thromb Vasc Biol, 26:1667-1673 PDF

Mälarstig A, Tenno T, Johnston N, Lagerqvist B, Axelsson T, Syvänen A-C, Wallentin L, Siegbahn A (2005) Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes. Arterioscler Thromb Vasc Biol, 25:2667-72

 

Diabetes and obesity

Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, Lu L, Ziegler JT, Sale MM, Divers J, Shriner D, Adeyemo A, Rotimi CN, Ng MCY, Langefeld CD, Freedman BI, Bowden DW, DIAGRAM Consortium; MAGIC Investigators (2012) A Genome-Wide Association Search for Type 2 Diabetes Genes in African Americans. PLoS One 7(1), e29202

Sällman Almén M, Jacobsson JA, Moschonis G, Benedict C, Chrousos GP, Fredriksson R, Schiöth HB (2012) Genome wide analysis reveals association of a FTO gene variant with epigenetic changes. Genomics 99(3), 132–137 

Jiao H, Arner P, Hoffstedt J, Brodin D, Dubern B, Czernichow S, van't Hooft F, Axelsson T, Pedersen O, Hansen T, Sorensen T, Hebebrand J, Kere J, Dahlman-Wright K, Hamsten A, Clement K, Dahlman I (2011) Genome wide association study identifies KCNMA1 contributing to human obesity. BMC Medical Genomics 4(1), 51

Zhu H, Shyh-Chang N, Segrè AV, Shinoda G, Shah SP, Einhorn WS, Takeuchi A, Engreitz JM, Hagan JP, Kharas MG, Urbach A, Thornton JE, Triboulet R, Gregory RI; DIAGRAM Consortium; MAGIC Investigators, Altshuler D, Daley GQ. (2011) The Lin28/let-7 axis regulates glucose metabolism. Cell. 147(1):81-94

Jiao H, Arner P, Dickson SL, Vidal H, Mejhert N, Henegar C, Taube M, Hansson C, Hinney A, Galan P, Simon C, Silveira A, Benrick A, Jansson JO, Bouloumié A, Langin D, Laville M, Debard C, Axelsson T, Rydén M, Kere J, Dahlman-Wright K, Hamsten A, Clement K, Dahlman I (2011) Genetic association and gene expression analysis identify FGFR1 as a new susceptibility gene for human obesity. J Clin Endocrinol Metab. 96(6):E962-6

Jacobsson JA, Almén MS, Benedict C, Hedberg LA, Michaëlsson K, Brooks S, Kullberg J, Axelsson T, Johansson L, Ahlström H, Fredriksson R, Lind L, Schiöth HB (2011) Detailed analysis of variants in FTO in association with body composition in a cohort of 70-year-olds suggests a weakened effect among elderly. PLoS One. 6(5):e20158

Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, Nica A, Wheeler E, Chen H, Voight BF, Taneera J, Kanoni S, Peden JF, Turrini F, Gustafsson S, Zabena C, Almgren P, Barker DJ, Barnes D, Dennison EM, Eriksson JG, Eriksson P, Eury E, Folkersen L, Fox CS, Frayling TM, Goel A, Gu HF, Horikoshi M, Isomaa B, Jackson AU, Jameson KA, Kajantie E, Kerr-Conte J, Kuulasmaa T, Kuusisto J, Loos RJ, Luan J, Makrilakis K, Manning AK, Martínez-Larrad MT, Narisu N, Nastase Mannila M, Ohrvik J, Osmond C, Pascoe L, Payne F, Sayer AA, Sennblad B, Silveira A, Stancakova A, Stirrups K, Swift AJ, Syvänen AC, Tuomi T, van 't Hooft FM, Walker M, Weedon MN, Xie W, Zethelius B; the DIAGRAM Consortium; the GIANT Consortium; the MuTHER Consortium; the CARDIoGRAM Consortium; the C4D Consortium, Ongen H, Mälarstig A, Hopewell JC, Saleheen D, Chambers J, Parish S, Danesh J, Kooner J, Ostenson CG, Lind L, Cooper CC, Serrano-Ríos M, Ferrannini E, Forsen TJ, Clarke R, Franzosi MG, Seedorf U, Watkins H, Froguel P, Johnson P, Deloukas P, Collins FS, Laakso M, Dermitzakis ET, Boehnke M, McCarthy MI, Wareham NJ, Groop L, Pattou F, Gloyn AL, Dedoussis GV, Lyssenko V, Meigs JB, Barroso I, Watanabe RM, Ingelsson E, Langenberg C, Hamsten A, Florez JC (2011) Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes. Diabetes, 60:2624-2634

Kanoni S, Nettleton JA, Hivert MF, Ye Z, van Rooij FJ, Shungin D, Sonestedt E, Ngwa JS, Wojczynski MK, Lemaitre RN, Gustafsson S, Anderson JS, Tanaka T, Hindy G, Saylor G, Renstrom F, Bennett AJ, van Duijn CM, Florez JC, Fox CS, Hofman A, Hoogeveen RC, Houston DK, Hu FB, Jacques PF, Johansson I, Lind L, Liu Y, McKeown N, Ordovas J, Pankow JS, Sijbrands EJ, Syvänen AC, Uitterlinden AG, Yannakoulia M, Zillikens MC; the MAGIC Investigators, Wareham NJ, Prokopenko I, Bandinelli S, Forouhi NG, Cupples LA, Loos RJ, Hallmans G, Dupuis J, Langenberg C, Ferrucci L, Kritchevsky SB, McCarthy MI, Ingelsson E, Borecki IB, Witteman JC, Orho-Melander M, Siscovick DS, Meigs JB, Franks PW, Dedoussis GV (2011) Total Zinc Intake May Modify the Glucose-Raising Effect of a Zinc Transporter (SLC30A8) Variant: A 14-Cohort Meta-analysis. Diabetes 60(9):2407-2416

Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, Tomas M, Hoffmann U, Hwang SJ, Massaro JM, O'Donnell CJ, Sahani DV, Salomaa V, Schadt EE, Schwartz SM, Siscovick DS; NASH CRN; GIANT Consortium; MAGIC Investigators, Voight BF, Carr JJ, Feitosa MF, Harris TB, Fox CS, Smith AV, Kao WH, Hirschhorn JN, Borecki IB; GOLD Consortium (2011) Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet. 7(3):e1001324

Böger CA, Chen MH, Tin A, Olden M, Köttgen A, Deboer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tönjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarød K, Skorpen F, Syvänen AC, Illig T, Baumert J, Koenig W, Krämer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Völzke H, Stumvoll M, Mägi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia SL, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlöv J, Hallan S, Navis G; the CKDGen Consortium, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson AD; Paterson on behalf of DCCT/EDIC, Wichmann HE, Wareham NJ, Loos RJ, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WH (2011) CUBN Is a Gene Locus for Albuminuria. J Am Soc Nephrol, 22:555-570

KilpeläinenT, Zillikens C, Stancáková A, Finucane F, Ried J, Langenberg C, Zhang W, Beckmann J, Luan J, Vandenput L, Styrkarsdottir U, Zhou Y, Smith A, Zhao J-H, Amin N, Vedantam S, Mangino M, Haritunians T, Fu M, Feitosa M, Kumari M, Halldorsson B, Tikkanen E, Shin S, Hayward C, Song C, Arnold A, Aulchenko Y, Ben O, Campbell H, Cupples A, Davis K, Döring A, Eiriksdottir G, Estrada K, Fernández-Real J-M, Garcia M, Gieger C, Glazer N, Guiducci C, Hofman A, Humphries S, Isomaa B, Jacobs L, Jula A, Karasik D, Karlsson M, Khaw K-T, Kivimäki M, Klopp N, Kühnel B, Kuusisto J, Lauren K, Liu Y, Ljunggren Ö, Lorentzon M, Luben R, McKnight B, Mellström D, Mitchell B, Mooser V, Moreno JM, Männistö S, O’Connell J, Pascoe L, Peltonen L, Peral B, Perola M, Psaty B, Salomaa V, Savage D, Semple R, Skaric-Juric T, Sigurdsson G, Song K, Soranzo N, Syvänen A-C, Talmud P, Thorleifsson G, Thorsteinsdottir U, Uitterlinden A, van Duijn C, Vidal-Puig A, Wild S, Wright A, Clegg D, Schadt E, Wilson J, Rudan I, Ripatti S, Borecki I, Shuldiner A, Ingelsson E, Jansson J-O, Kaplan R, Gudnason V, Harris T, Groop L, Kiel D, Rivadeneira F, Walker M, Barroso I, Vollenweider P, Waeber G, Chambers J, Kooner J, Spector T, Hirschhorn J, Stefansson K, Wichmann H-E, Ohlsson C, O’Rahilly S, Wareham N, Speliotes E, Fox C, Laakso M, Loos R (2011) Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Gen, 43:753-760

Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL et al (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Gen, 42:105-116

Ek W, Strömstedt L, Wahlberg P, Siegel P, Andersson L, Carlborg Ö (2010) Genetic analysis of metabolic traits in an intercross between body weight selected chicken lines. Physiol Genomics, 107:6453-6458

Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Mägi R, Workalemahu T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, Ingelsson E, Willer CJ, Weedon MN, Luan J, Vedantam S, Esko T, Kilpeläinen TO, Kutalik Z, Li S, Monda KL, Dixon AL, Holmes CC, Kaplan LM, Liang L, Min JL, Moffatt MF, Molony C, Nicholson G, Schadt EE, Zondervan KT, Feitosa MF, Ferreira T, Allen HL, Weyant RJ, Wheeler E, Wood AR; MAGIC, Estrada K, Goddard ME, Lettre G, Mangino M, Nyholt DR, Purcell S, Smith AV, Visscher PM, Yang J, McCarroll SA, Nemesh J, Voight BF, Absher D, Amin N, Aspelund T, Coin L, Glazer NL, Hayward C, Heard-Costa NL, Hottenga JJ, Johansson A, Johnson T, Kaakinen M, Kapur K, Ketkar S, Knowles JW, Kraft P, Kraja AT, Lamina C, Leitzmann MF, McKnight B, Morris AP, Ong KK, Perry JR, Peters MJ, Polasek O, Prokopenko I, Rayner NW, Ripatti S, Rivadeneira F, Robertson NR, Sanna S, Sovio U, Surakka I, Teumer A, van Wingerden S, Vitart V, Zhao JH, Cavalcanti-Proença C, Chines PS, Fisher E, Kulzer JR, Lecoeur C, Narisu N, Sandholt C, Scott LJ, Silander K, Stark K, Tammesoo ML, Teslovich TM, Timpson NJ, Watanabe RM, Welch R, Chasman DI, Cooper MN, Jansson JO, Kettunen J, Lawrence RW, Pellikka N, Perola M, Vandenput L, Alavere H, Almgren P, Atwood LD, Bennett AJ, Biffar R, Bonnycastle LL, Bornstein SR, Buchanan TA, Campbell H, Day IN, Dei M, Dörr M, Elliott P, Erdos MR, Eriksson JG, Freimer NB, Fu M, Gaget S, Geus EJ, Gjesing AP, Grallert H, Grässler J, Groves CJ, Guiducci C, Hartikainen AL, Hassanali N, Havulinna AS, Herzig KH, Hicks AA, Hui J, Igl W, Jousilahti P, Jula A, Kajantie E, Kinnunen L, Kolcic I, Koskinen S, Kovacs P, Kroemer HK, Krzelj V, Kuusisto J, Kvaloy K, Laitinen J, Lantieri O, Lathrop GM, Lokki ML, Luben RN, Ludwig B, McArdle WL, McCarthy A, Morken MA, Nelis M, Neville MJ, Paré G, Parker AN, Peden JF, Pichler I, Pietiläinen KH, Platou CG, Pouta A, Ridderstråle M, Samani NJ, Saramies J, Sinisalo J, Smit JH, Strawbridge RJ, Stringham HM, Swift AJ, Teder-Laving M, Thomson B, Usala G, van Meurs JB, van Ommen GJ, Vatin V, Volpato CB, Wallaschofski H, Walters GB, Widen E, Wild SH, Willemsen G, Witte DR, Zgaga L, Zitting P, Beilby JP, James AL, Kähönen M, Lehtimäki T, Nieminen MS, Ohlsson C, Palmer LJ, Raitakari O, Ridker PM, Stumvoll M, Tönjes A, Viikari J, Balkau B, Ben-Shlomo Y, Bergman RN, Boeing H, Smith GD, Ebrahim S, Froguel P, Hansen T, Hengstenberg C, Hveem K, Isomaa B, Jørgensen T, Karpe F, Khaw KT, Laakso M, Lawlor DA, Marre M, Meitinger T, Metspalu A, Midthjell K, Pedersen O, Salomaa V, Schwarz PE, Tuomi T, Tuomilehto J, Valle TT, Wareham NJ, Arnold AM, Beckmann JS, Bergmann S, Boerwinkle E, Boomsma DI, Caulfield MJ, Collins FS, Eiriksdottir G, Gudnason V, Gyllensten U, Hamsten A, Hattersley AT, Hofman A, Hu FB, Illig T, Iribarren C, Jarvelin MR, Kao WH, Kaprio J, Launer LJ, Munroe PB, Oostra B, Penninx BW, Pramstaller PP, Psaty BM, Quertermous T, Rissanen A, Rudan I, Shuldiner AR, Soranzo N, Spector TD, Syvanen AC, Uda M, Uitterlinden A, Völzke H, Vollenweider P, Wilson JF, Witteman JC, Wright AF, Abecasis GR, Boehnke M, Borecki IB, Deloukas P, Frayling TM, Groop LC, Haritunians T, Hunter DJ, Kaplan RC, North KE, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, Hirschhorn JN, Assimes TL, Wichmann HE, Thorsteinsdottir U, van Duijn CM, Stefansson K, Cupples LA, Loos RJ, Barroso I, McCarthy MI, Fox CS, Mohlke KL, Lindgren CM (2010) Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Gen, 42:949-60

Nettleton JA, McKeown NM, Kanoni S, Lemaitre RN, Hivert MF, Ngwa J, van Rooij FJ, Sonestedt E, Wojczynski MK, Ye Z, Tanaka T; CHARGE Whole Grain Foods Study Group (2010) Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies. Diabetes Care, 33:2684-2691

Ingelsson E, Langenberg C, Hivert MF, Prokopenko I, Lyssenko V, Dupuis J, Mägi R, Sharp S, Jackson AU, Assimes TL, Shrader P, Knowles JW, Zethelius B, Abbasi FA, Bergman RN, Bergmann A, Berne C, Boehnke M, Bonnycastle LL, Bornstein SR, Buchanan TA, Bumpstead SJ, Böttcher Y, Chines P, Collins FS, Cooper CC, Dennison EM, Erdos MR, Ferrannini E, Fox CS, Graessler J, Hao K, Isomaa B, Jameson KA, Kovacs P, Kuusisto J, Laakso M, Ladenvall C, Mohlke KL, Morken MA, Narisu N, Nathan DM, Pascoe L, Payne F, Petrie JR, Sayer AA, Schwarz PE, Scott LJ, Stringham HM, Stumvoll M, Swift AJ, Syvänen AC, Tuomi T, Tuomilehto J, Tönjes A, Valle TT, Williams GH, Lind L, Barroso I, Quertermous T, Walker M, Wareham NJ, Meigs JB, McCarthy MI, Groop L, Watanabe RM, Florez JC; MAGIC investigators. (2010) Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes, 59:1266-1275

Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH; GIANT consortium; the MAGIC investigators, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ, Watanabe RM (2010) Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Gen, 42:142-148

Jacobsson J, Risérus U, Axelsson T, Lannfelt L, Schiöth H, Fredriksson R (2009) The common FTO variant rs9939609 is not associated with BMI in a longitudinal study on a cohort of Swedish men born 1920-1924. BMC Medical Genetics, 10:131

Jiao H, Kaaman M, Dungner E, Kere J, Arner P, Dahlman I (2008) Association analysis of positional obesity candidate genes based on integrated data from transcriptomics and linkage analysis. Int J Obes (Lond), 32:816-825

Dahlgren A, Zethelius B, Jensevik K, Syvänen A-C, Berne C (2007) Variants of the TCF7L2 gene are associated with beta cell dysfunction and confer risk of type 2 diabetes mellitus in the ULSAM cohort of Swedish elderly men. Diabetologia, 50:1852-1857

Dahlman I, Dicker A, Jiao H, Kere J, Blomqvist L, van Harmelen V, Hoffstedt J, Borch-Johnsen K, Jörgensen T, Hansen T, Pedersen O, Laakso M, Arner P (2007) A common haplotype in the G-protein coupled receptor GPR74 is associated with leanness and increased lipolysis. Am J Hum Genet, 80:1115-1124

Nilsson M, Dahlman I, Jiao H, Gustafsson JA, Arner P, Dahlman-Wright K (2007) Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study. BMC Med Genet, 4:73

Warensjö E, Ingelsson E, Lundmark P, Lannfelt L, Syvänen A-C, Vessby B, Risérus U (2007) Polymorphisms in the SCD1 gene: associations with body fat distribution and insulin sensitivity. Obesity, 15:1732-1740

Kaaman M, Rydén M, Axelsson T, Nordström E, Sicard A, Bouloumié A, Langin D, Arner P, Dahlman I (2006) ALOX5AP expression, but not gene haplotypes, is associated with obesity and insulin resistance. Int J Obes (Lond), 30:447-452

Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvanen A-C, Leon D, Hattersley AT (2005) Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes, 54:576-581

 

Endocrinology

Hällström H, Melhus H, Glynn A, Lind L, Syvänen AC, Michaëlsson (2010) Coffee consumption and CYP1A2 genotype in relation to bone mineral density of the proximal femur in elderly men and women: a cohort study. Nutr Metab, 22:12

Eriksson AL, Lorentzon M, Vandenput L, Labrie F, Lindersson M, Syvänen AC, Orwoll ES, Cummings SR, Zmuda JM, Ljunggren O, Karlsson MK, Mellström D, Ohlsson C (2009) Genetic Variations in Sex Steroid-Related Genes as Predictors of Serum Estrogen Levels in Men. J Clin Endocrinol Metab, 94:1033-1041

 

Evolutionary and comparative genetics

Strand TM, Segelbacher G, Quintela M, Xiao L, Axelsson T, Höglund J (2012) Can balancing selection on MHC loci counteract genetic drift in small fragmented populations of black grouse? Ecology and Evolution 2(2), 341-353

Schielzeth H, Forstmeier W, Kempenaers B, Ellegren H. (2012) QTL linkage mapping of wing length in zebra finch using genome-wide single nucleotide polymorphisms markers. Mol Ecol 21(2), 329-339

Besnier F, Wahlberg P, Rönnegård L, Ek W, Andersson L, Siegel PB, Carlborg O. (2011) Fine mapping and replication of QTL in outbred chicken advanced intercross lines. Genet Sel Evol. 43(1):3

Völker M, Backström N, Skinner BM, Langley EJ, Bunzey SK, Ellegren H, Griffin DK. (2010) Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution. Genome Res. 20(4):503-11

Backström N, Forstmeier W, Schielzeth H, Mellenius H, Nam K, Bolund E, Webster MT, Ost T, Schneider M, Kempenaers B, Ellegren H (2010) The recombination landscape of the zebra finch Taeniopygia guttata genome. Genome Res, 20:485-495

Backström N, Palkopoulou E, Qvarnström A, Ellegren H (2010) No evidence for Z-chromosome rearrangements between the pied flycatcher and the collared flycatcher as judged by gene-based comparative genetic maps. Mol Ecol, 19:3394-3405

Berlin S, Lagercrantz U, von Arnold S, Ost T, Rönnberg-Wästljung AC (2010) High-density linkage mapping and evolution of paralogs and orthologs in Salix and Populus. BMC Genomics, 11:129

Forstmeier W, Ellegren H (2010) Trisomy and triploidy are sources of embryo mortality in the zebra finch. Proc Biol Sci, 277:2655-2660

Völker M, Backström N, Skinner BM, Langley EJ, Bunzey SK, Ellegren H, Griffin DK (2010) Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution. Genome Res, 20:503-511

Wright D, Rubin CJ, Martinez Barrio A, Schütz K, Kerje S, Brändström H, Kindmark A, Jensen P, Andersson L (2010) The genetic architecture of domestication in the chicken: effects of pleiotropy and linkage. Mol Ecol, 19:5140-5156

Demontis D, Pertoldi C, Loeschcke V, Mikkelsen K, Axelsson T, Nygaard Kristensen T (2009) Efficiency of selection, as measured by single nucleotide polymorphism variation, is dependent on inbreeding rate in Drosophila melanogaster. Molecular Ecology, 18:4551-4563

Wade C, Giulotto E, Sigurdsson S, Zoli M, Gnerre S, Imsland F, Lear T, Adelson D, Bailey E, Bellone R, Blöcker H, Distl O, Edgar R, Garber M, Leeb T, Mauceli E, MacLeod J, Penedo M, Raison J, Sharpe T, Vogel J, Andersson L, Antczak D, Biagi T, Binns M, Chowdhary B, Coleman S, Della Valle G, Fryc S, Guérin G, Hasegawa T, Hill E, Jurka J, Kiialainen K, Lindgren G, Liu J, Magnani E, Mickelson J, Murray J, Nergadze S, Onofrio R, Pedroni S, Piras M, Raudsepp T, Rocchi M, Røed K, Ryder O, Searle S, Skow L, Swinburne J, Syvänen A-C, Tozaki T, Valberg J, Vaudin M, White J, Zody M, Broad Institute Genome Sequencing Platform, Broad Institute Whole Genome Assembly Team, Lander E, Lindblad-Toh K (2009) Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse. Science, 326:865-867

Wahlberg P, Carlborg Ö, Foglio M, Tordoir X, Syvänen A-C, Lathrop M, Gut I, Siegel P, Andersson L (2009) Genetic analysis of an F2 intercross between two chicken lines divergently selected for body-weight. BMC Genomics, 10:248

Backström N, Brandström M, Gustafsson L, Qvarnström A, Cheng H, Ellegren H (2006) Genetic mapping in a natural population of collared flycatchers (Ficedula albicollis): conserved synteny but gene order rearrangements on the avian Z chromosome. Genetics, 174:377-386

Backström N, Qvarnström A, Gustafsson L, Ellegren H (2006) Levels of linkage disequilibrium in a wild bird population. Biol Lett, 2:435-438

Borge T, Lindroos K, Nadvornik P, Syvanen A-C, Saetre G-P (2005) Amount of introgression in flycatcher hybrid zones reflects regional difference in pre- and postzygotic barriers to gene exchange. J Evol Biol, 18:1416-1424

Saetre GP, Borge T, Lindroos K, Haavie J, Sheldon BC, Primmer C, Syvanen A-C (2003) Sex chromosome evolution and speciation in Ficedula flycatchers. Proc Biol Sci, 270:53-59

 

Inflammatory and autoimmune disease

Bolstad AI, Le Hellard S, Kristjansdottir G, Vasaitis L, Kvarnström M, Sjöwall C, Johnsen SJA, Eriksson P, Omdal R, Brun JG, Wahren-Herlenius M, Theander E, Syvänen A-C, Rönnblom L, Nordmark G, Jonsson R (2012) Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjögren's syndrome in Scandinavian samples. Ann Rheum Dis, [Epub ahead of print]

Appel S, Le Hellard S, Bruland O, Brun JG, Omdal R, Kristjansdottir G, Theander E, Nordmark G, Kvarnström M, Eriksson P, Rönnblom L, Wahren-Herlenius M, Jonsson R (2011) Potential association of muscarinic receptor 3 gene variants with primary Sjogren's syndrome. Ann Rheum Dis. 70(7):1327-9

International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Boneschi FM, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S, Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C, Grant SF, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN, Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T, Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K, Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppä V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu J, Lorentzen AR, Lupoli S, Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F, Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux JD, Rodegher M, Roesner S, Rubio JP, Rückert IM, Salvetti M, Salvi E, Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F, Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PM, Smestad C, Sørensen PS, Søndergaard HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvänen AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J, Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CN, Wichmann HE, Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC, Yaouanq J, Viswanathan AC, Zhang H, Wood NW, Zuvich R, Deloukas P, Langford C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL, McVean G, Donnelly P, Compston A. (2011) Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 476(7359):214-9

Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, Vasaitis L, Kvarnström M, Delaleu N, Lundmark P, Lundmark A, Sjöwall C, Brun JG, Jonsson MV, Harboe E, Gøransson LG, Johnsen SJ, Söderkvist P, Eloranta ML, Alm G, Baecklund E, Wahren-Herlenius M, Omdal R, Rönnblom L, Jonsson R, Syvänen AC (2011) Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome. Genes Immun, 12:100-109

Sandling JK, Garnier S, Sigurdsson S, Wang C, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Mälarstig A, Strawbridge RJ, Hamsten A, Criswell LA, Graham RR, Behrens TW, Eloranta ML, Alm G, Rönnblom L, Syvänen AC (2011) A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE. Eur J Hum Genet, 19:479-484

Feng D, Stone RC, Eloranta ML, Sangster-Guity N, Nordmark G, Sigurdsson S, Wang C, Alm G, Syvänen AC, Rönnblom L, Barnes BJ (2010) Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus. Arthritis Rheum, 62:562-573

Vuong MT, Gunnarsson I, Lundberg S, Svenungsson E, Wramner L, Fernström A, Syvänen AC, Do LT, Jacobson SH, Padyukov L (2010) Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. PLoS One, 5(5):e10559

Svenungsson E, Gustafsson J, Leonard D, Sandling J, Gunnarsson I, Nordmark G, Jönsen A, Bengtsson AA, Sturfelt G, Rantapää-Dahlqvist S, Elvin K, Sundin U, Garnier S, Simard JF, Sigurdsson S, Padyukov L, Syvänen AC, Rönnblom L (2010) A STAT4 risk allele is associated with ischemic cerebrovascular events and antiphospholipid antibodies in Systemic Lupus Erythematosus. Ann Rheum Dis, 69:834-840

Gateva V, Sandling J, Hom G, Taylor K, Chung S, Sun X, Ortmann W, Kosoy R, Ferreira R, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson A, Rantapää-Dahlqvist S, Baechler E, Brown E, Alarcón G, Edberg J, Ramsey-Goldman R, McGwin Jr G, Reveille J, Vilá L, Kimberly R, Manzi S, Petri M, Lee A, Gregersen P, Seldin M, Rönnblom L, Criswell L, Syvänen A-C, Behrens T, Graham R (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Gen, 41:1228-1233

Hellquist A, Sandling JK, Zucchelli M, Koskenmies S, Julkunen H, D'Amato M, Garnier S, Syvänen AC, Kere J (2009) Variation in STAT4 is associated with systemic lupus erythematosus (SLE) in a Finnish family cohort. Ann Rheum Dis, 69:883-886

Nordmark G, Kristjansdottir G, Theander E, Eriksson P, Brun JG, Wang C, Padyukov L, Truedsson L, Alm G, Eloranta ML, Jonsson R, Rönnblom L, Syvänen AC (2009) Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome. Genes Immun, 10:68-76

Hom G, Graham R, Modrek B, Taylor K, Ortmann W, Garnier S, Lee A, Chung S, Ferreira R, Pant K, Ballinger D, Kosoy R, Demirci Y, Kamboh I, Kao A, Tian C, Gunnarsson I, Bengtsson A, Rantapää-Dahlqvist S, Petri M, Manzi S, Seldin M, Rönnblom L, Syvänen A-C, Criswell L, Gregersen P, Behrens T (2008) Association of Systemic Lupus Erythematosus with C8orf13–BLK and ITGAM–ITGAX. N Engl J Med, 358:900-909

Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, Milani L, Wang C, Gustafsdottir SM, Sigurdsson S, Lundmark A, Tienari PJ, Koivisto K, Elovaara I, Pirttilä T, Reunanen M, Peltonen L, Saarela J, Hillert J, Olsson T, Landegren U, Alcina A, Fernández O, Leyva L, Guerrero M, Lucas M, Izquierdo G, Matesanz F, Syvänen AC (2008) Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet, 45:362-369

Sigurdsson S, Göring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling J, Eloranta M-L, Feng D, Sangster-Guity N, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Barnes BJ, Alm G, Rönnblom L, Syvänen A-C (2008) Comprehensive Evaluation of the Genetic Variants of Interferon Regulatory Factor 5 Reveals a Novel 5 bp Length Polymorphism as Strong Risk Factor for Systemic Lupus Erythematosus. Hum Mol Genet, 17:872-881

Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jönsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen A-C, Rönnblom L (2008) A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet, 17:2868-2876

Amundsen SS, Adamovic S, Hellqvist Å, Nilsson S, Gudjónsdóttir AH, Ascher H, Ek J, Larsson K, Wahlström J, Lie BA, Sollid LM, Naluai ÅT (2007) A comprehensive screen for SNP associations on chromosome region 5q31-33 in Swedish/Norwegian celiac disease families. Eur J Hum Genet, 15:980-987

Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, Syvänen AC (2007) An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet, 16:3008-3016

Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Rönnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvänen AC, Bohjanen PR, Daly MJ, Behrens TW, Altshuler D. (2007) Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci, 104:6758-6763

Sigurdsson S, Padyukov L, Kurreeman F, Liljedahl U, Wiman A-C, Alfredsson L, Toes R, Rönnelid J, Klareskog L, Huizinga T, Alm G, Syvänen A-C, Rönnblom L (2007) Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. Arthritis & Rheumatism, 56:2202-2210

Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, Koskenmies S, Widen E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Ronnblom L, Syvanen A-C (2005) Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet, 76:528-537

 

Population studies

Forsberg Lars A, Rasi C, Razzaghian Hamid R, Pakalapati G, Waite L, Thilbeault Krista S, Ronowicz A, Wineinger Nathan E, Tiwari Hemant K, Boomsma D, Westerman Maxwell P, Harris Jennifer R, Lyle R, Essand M, Eriksson F, Assimes Themistocles L, Iribarren C, Strachan E, O'Hanlon Terrance P, Rider Lisa G, Miller Frederick W, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A, Pedersen Nancy L, Absher D, Dumanski Jan P (2012) Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells. Am J Hum Genet 90(2), 217-228

McEvoy BP, Montgomery GW, McRae AF, Ripatti S, Perola M, Spector TD, Cherkas L, Ahmadi KR, Boomsma D, Willemsen G, Hottenga JJ, Peterson NL, Magnusson PK, Ohm Kyvik K, Christensen K, Kaprio J, Heikkila K, Palotie A, Widen E, Muilu J, Syvanen AC, Liljedahl U, Hardiman O, Cronin S, Peltonen L, Martin NG, Visscher PM (2009) Geographical structure and differential natural selection amongst North European populations. Genome Res, 19:804-814

Lundmark P, Liljedahl U, Boomsma D, Mannila H, Martin NG, Palotie A, Peltonen L, Perola M, Spector T, Syvänen A-C (2008) Evaluation of HapMap data in six populations of European descent. Eur J Hum Genet, 16:1142-1150

Silander K, Axelsson T, Widen E, Dahlgren A, Palotie A, Syvanen A-C (2003) Analysis of genetic variation in the GenomEUtwin project. Twin Res, 6:391-398

 

Technology

Gunnarsson R, Staaf J, Jansson M, Ottesen AM, Göransson H, Liljedahl U,Ralfkiær U, Mansouri M, Buhl AM, Smedby KE, Hjalgrim H, Syvänen C, Borg Å, Isaksson A, Jurlander J, Juliusson G, Rosenquist R. (2008) Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia - A comparative study of four differently designed, high resolution microarray platforms. Genes, Chromosomes and Cancer, 47:697-711

Milani L, Lundmark A, Nordlund J, Kiialainen A, Flaegstad T, Jonmundsson G, Kanerva J, Schmiegelow K, Gunderson KL, Lönnerholm G, Syvänen AC (2008) Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation. Genome Res, 19:1-11

Staaf J, Lindgren D, Vallon-Christersson J, Isaksson A, Göransson H, Juliusson G, Rosenquist R, Höglund M, Borg Å, Ringnér (2008) Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays. Genome Biology, 9:R136

Staaf J, Vallon-Christersson J, Lindgren D, Juliusson G, Rosenquist R, Höglund M, Borg Å, Ringnér M (2008) Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios. BMC Bioinformatics, 9:409

Edvardsen H, Alnaes GIG, Tsalenk A, Mulcahy T, Yurey A, Lindersson M, Lien S, Omholt S, Syvänen A-C, Börresen-Dale A-L, Kristenssen VN (2006) Experimental validation of data-mined SNPs from several databases and consecutive dbSNP builds. Pharmacogenetics and Genomics, 16:207-217

Lahermo P, Liljedahl U, Alnaes G, Axelsson T, Brookes A, Ellonen P, Groop P-E, Halldén C, Holmberg D, Holmberg K, Keinänen M, Kepp K, Kere J, Kiviluoma P, Kristensen V, Lindgren C, Odeberg J, Osterman P, Parkkonen M, Saarela J, Sterner M, Strömqvist L, Talas U, Wessman M, Palotie A, Syvänen A-C (2006) A Quality Assessment Survey of SNP Genotyping Laboratories. Hum Mutat, 27:711-714

Morin P, Luikart G, Wayne R and the SNP workshop group incl. Axelsson T (2004) SNPs in ecology, evolution and conservation. Trends in Ecology & Evolution, 19:208-216

 

Sequencing

Zhao H, Dahlö M, Isaksson A, Syvänen A-C, Pettersson U (2012) The transcriptome of the adenovirus infected cell. Virology 424(2), 115-128

Berglund E, Kiialainen A, Syvänen A-C. (2011) Next generation sequencing technologies and applications for human Genetic History and Forensics. Investigative Genetics 2:23

Kiialainen A, Karlberg O, Ahlford A, Sigurdsson S, Lindblad-Toh K, Syvänen AC (2011) Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PloS One, 6(2):e16486

Jolma A, Kivioja T, Toivonen J, Cheng L, Wei G, Enge M, Taipale M, Vaquerizas JM, Yan J, Sillanpää MJ, Bonke M, Palin K, Talukder S, Hughes TR, Luscombe NM, Ukkonen E, Taipale J (2010) Multiplexed massively parallel SELEX for characterization of human transcription factor binding specificities. Genome Res, 20:861-873

Sehat B, Tofigh A, Lin Y, Trocmé E, Liljedahl U, Lagergren J, Larsson O (2010) SUMOylation Mediates the Nuclear Translocation and Signaling of the IGF-1 Receptor. Sci Signal, 3, ra10