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dc.contributor.author배상철-
dc.date.accessioned2018-03-08T02:44:32Z-
dc.date.available2018-03-08T02:44:32Z-
dc.date.issued2012-04-
dc.identifier.citationAmerican journal of human genetics, APR 2012, 90(4), P.648-660en_US
dc.identifier.issn0002-9297-
dc.identifier.urihttp://www.cell.com/ajhg/fulltext/S0002-9297(12)00108-5-
dc.identifier.urihttp://hdl.handle.net/20.500.11754/43520-
dc.description.abstractSystemic lupus erythematosus (SLE) is a chronic heterogeneous autoimmune disorder characterized by the loss of tolerance to self-antigens and dysregulated interferon responses. The etiology of SLE is complex, involving both heritable and environmental factors. Candidate-gene studies and genome-wide association (GWA) scans have been successful in identifying new loci that contribute to disease susceptibility; however, much of the heritable risk has yet to be identified. In this study, we sought to replicate 1,580 variants showing suggestive association with SLE in a previously published GWA scan of European Americans; we tested a multiethnic population consisting of 7,998 SLE cases and 7,492 controls of European, African American, Asian, Hispanic, Gullah, and Amerindian ancestry to find association with the disease. Several genes relevant to immunological pathways showed association with SLE. Three loci exceeded the genome-wide significance threshold: interferon regulatory factor 8 (IRF8; rs11644034; p(meta-Euro) = 2.08 x 10(-10)), transmembrane protein 39A (TMEM39A; rs1132200; p(meta-all) 8.62 x 10(-9)), and 17q21 (rs1453560; p(meta-all) = 3.48 x 10(-10)) between IKAROS family of zinc finger 3 (AIOLOS; IKZF3) and zona pellucida binding protein 2 (ZPBP2). Fine mapping, resequencing, imputation, and haplotype analysis of IRF8 indicated that three independent effects tagged by rs8046526, rs450443, and rs4843869, respectively, were required for risk in individuals of European ancestry. Eleven additional replicated effects (5 x 10(-8) < p(meta-Euro) < 9.99 x 10(-5)) were observed with CFHR1, CADM2, LOC730109/IL12A, LPP, LOC63920, SLU7, ADAMTSL1, C10orf64, OR8D4 FAM19A2, and STXBP6. The results of this study increase the number of confirmed SLE risk loci and identify others warranting further investigation.en_US
dc.description.sponsorshipWe are grateful to all the individuals with SLE and those serving as healthy controls who participated in this study. We thank the following individuals for contributing samples: Sandra Marc Bijl, D'Alfonso, Emoke Endreffy, Inigo Rua-Figueroa, Cintia Garcilazo, Carmen Gutierrez, Peter Junker, Helle Laustrup, Rafaella Scorza, Berta Martins da Silva, Ana Suarez, and Carlos Vasconcelos. For the GENLES collaboration, we thank Eduardo Acevedo, Mario Cardiel, Ignacio Garcia de la Torre, Mabel Busajm, Cecilia Castel, Marco Maradiaga, Jose F. Moctezuma, and Jorge Musuruana. For the Asociacion Andaluza de Enfermedades Autoimmunes collaboration, we thank Juan Jimenez-Alonso, Norberto Ortego-Centeno, Enrique de Ramon, and Julio Sanchez-Roman. We would like to thank Summer Frank and Mei Li Zhu for their assistance in genotyping, quality-control analyses, and clinical data management. We would also like to thank Emily Cole for her assistance in preparing figures. Grant support information is provided in the Supplemental Acknowledgments available online.en_US
dc.language.isoenen_US
dc.publisherElsevier Science B.V., Amsterdamen_US
dc.subjectGENOME-WIDE ASSOCIATIONen_US
dc.subjectPRIMARY BILIARY-CIRRHOSISen_US
dc.subjectRHEUMATOID-ARTHRITISen_US
dc.subjectRISK LOCIen_US
dc.subjectGENETIC SUSCEPTIBILITYen_US
dc.subjectFAMILIAL AGGREGATIONen_US
dc.subjectIMMUNE-RESPONSEen_US
dc.subjectCROHNS-DISEASEen_US
dc.subjectFOLLOW-UPen_US
dc.subjectVARIANTSen_US
dc.titleIdentification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Studyen_US
dc.typeArticleen_US
dc.relation.no4-
dc.relation.volume90-
dc.identifier.doi10.1016/j.ajhg.2012.02.023-
dc.relation.page648-660-
dc.relation.journalAMERICAN JOURNAL OF HUMAN GENETICS-
dc.contributor.googleauthorMarta, E.-
dc.contributor.googleauthorLessard, Christopher J.-
dc.contributor.googleauthorAdrianto, I.-
dc.contributor.googleauthorIce, John A.-
dc.contributor.googleauthorWiley, Graham B.-
dc.contributor.googleauthorKelly, Jennifer A.-
dc.contributor.googleauthorGlenn, Stuart B.-
dc.contributor.googleauthorAdler, Adam J.-
dc.contributor.googleauthorLi, H.-
dc.contributor.googleauthorBae, Sang-Cheol-
dc.relation.code2012200481-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidscbae-
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