Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

Nature Genetics
International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)Jennifer A Kelly

Abstract

Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with complex etiology but strong clustering in families (lambda(S) = approximately 30). We performed a genome-wide association scan using 317,501 SNPs in 720 women of European ancestry with SLE and in 2,337 controls, and we genotyped consistently associated SNPs in two additional independent sample sets totaling 1,846 affected women and 1,825 controls. Aside from the expected strong association between SLE and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome 7q32, we found evidence of association with replication (1.1 x 10(-7) < P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). We also found evidence for association (P < 1 x 10(-5)) at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases, as well as at > or =9 other loci (P < 2 x 10(-7)). Our results show that numerous genes, some with known immune-related functions, predispose to SLE.

References

Mar 1, 1992·Arthritis and Rheumatism·D DeapenT M Mack
Sep 1, 1991·Immunology Today·B P Morgan, M J Walport
Feb 15, 1997·The Journal of Clinical Investigation·B P TsaoJ I Rotter
Dec 9, 1998·Proceedings of the National Academy of Sciences of the United States of America·K L MoserJ B Harley
May 12, 2004·Journal of Urban Health : Bulletin of the New York Academy of Medicine·Maria K MitchellUNKNOWN New York Cancer Project
Jul 27, 2004·American Journal of Human Genetics·Chieko KyogokuTimothy W Behrens
Apr 9, 2005·Arthritis and Rheumatism·Donato Alarcón-SegoviaUNKNOWN Grupo Latinoamericano de Estudio del Lupus Eritematoso (GLADEL)
Jul 7, 2005·JAMA : the Journal of the American Medical Association·Ian M ThompsonCharles A Coltman
Sep 15, 2006·Genes and Immunity·P ForaboscoL A Criswell
Nov 24, 2006·Nature·Richard RedonMatthew E Hurles
Jan 5, 2007·Annual Review of Immunology·Bing-Hao LuoTimothy A Springer
Sep 7, 2007·The New England Journal of Medicine·Elaine F RemmersPeter K Gregersen

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Citations

Sep 18, 2010·Inflammatory Bowel Diseases·Rinse K WeersmaBehrooz Z Alizadeh
Sep 17, 2009·Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]·Eniko SafranyBela Melegh
May 18, 2012·Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]·Young Ho LeeGwan Gyu Song
Jan 6, 2010·Rheumatology International·Anna KozłowskaPaweł Piotr Jagodziński
Jan 19, 2011·Rheumatology International·Eun-Mi KimSang-Cheol Bae
Mar 21, 2013·Rheumatology International·Gwan Gyu SongYoung Ho Lee
Mar 23, 2011·Zeitschrift für Rheumatologie·I Melchers
Feb 5, 2010·Archives of Dermatological Research·Zheng ZhangSen Yang
Jun 23, 2011·Human Genetics·Edward A Ruiz-NarvaezLynn Rosenberg
Apr 14, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Krzysztof KirylukAli G Gharavi
Dec 24, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Stephen D Marks, Kjell Tullus
Jul 12, 2012·Modern Rheumatology·Su-juan HuXue-jun Zhang
Oct 15, 2009·Molecular Biology Reports·Teresa WarchołPaweł P Jagodziński
Jun 26, 2012·Molecular Biology Reports·Piotr PiotrowskiPaweł P Jagodziński
Jun 21, 2012·Molecular Biology Reports·Ya-Ling LiangXiao-Dong Xie
Aug 7, 2008·Current Allergy and Asthma Reports·Benjamin D KormanElaine F Remmers
Aug 15, 2013·Current Rheumatology Reports·Patrícia Costa-Reis, Kathleen E Sullivan
Aug 5, 2009·Clinical Reviews in Allergy & Immunology·Esteban Ballestar
Jul 2, 2008·Immunologic Research·Stephen H Clarke
Aug 14, 2009·Expert Reviews in Molecular Medicine·Lisa C WillcocksMenna R Clatworthy
Aug 2, 2001·Nature Medicine·P MarrackB L Kotzin
Sep 11, 2008·European Journal of Human Genetics : EJHG·Paola ForaboscoCathryn M Lewis
Oct 15, 2009·European Journal of Human Genetics : EJHG·Jian YangNaomi R Wray
Feb 19, 2009·European Journal of Human Genetics : EJHG·Tim Becker, Christine Herold
Dec 24, 2010·European Journal of Human Genetics : EJHG·Johanna K SandlingAnn-Christine Syvänen
Dec 20, 2012·European Journal of Human Genetics : EJHG·Chuan WangJohanna K Sandling
Dec 19, 2008·Genes and Immunity·Angélica M Delgado-VegaMarta E Alarcón-Riquelme
Dec 2, 2011·Genes and Immunity·I AllozaK Vandenbroeck

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