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Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study

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dc.creatorLessard, Christopher J.
dc.creatorAdrianto, Indra
dc.creatorIce, John A.
dc.creatorWiley, Graham B.
dc.creatorKelly, Jennifer A.
dc.creatorGlenn, Stuart B.
dc.creatorAdler, Adam J.
dc.creatorLi, He
dc.creatorRasmussen, Astrid
dc.creatorWilliams, Adrienne H.
dc.creatorZiegler, Julie
dc.creatorComeau, Mary
dc.creatorMarion, Miranda
dc.creatorWakeland, Benjamin E.
dc.creatorLiang, Chaoying
dc.creatorRamos, Paula S.
dc.creatorGrundahl, Kiely M.
dc.creatorGallant, Caroline J.
dc.creatorAlarcón-Riquelme, Marta E.
dc.creatorAlarcón, Graciela S.
dc.creatorAnaya, Juan-Manuel
dc.creatorBae, Sang-Cheol
dc.creatorBoackle, Susan
dc.creatorBrown, Elizabeth E.
dc.creatorChang, Deh-Ming
dc.creatorCho, Soo-Kyung
dc.creatorCriswel, Lindsey A.
dc.creatorEdberg, Jeffrey C.
dc.creatorFreedman, Barry I.
dc.creatorGilkeson, Gary S.
dc.creatorJacob, Chaim O.
dc.creatorJames, Judith A.
dc.creatorKamen, Diane L.
dc.creatorKimberly, Robert P.
dc.creatorKim, Jae-Hoon
dc.creatorMartin, Javier
dc.creatorMerrill, Joan T.
dc.creatorNiewold, Timothy B.
dc.creatorPark, So-Yeon
dc.creatorPetri, Michelle A.
dc.creatorPons-Estel, Bernardo A.
dc.creatorRamsey-Goldman, Rosalind
dc.creatorReveille, John D.
dc.creatorScofield, Robert H.
dc.creatorSong, Yeong Wook
dc.creatorStevens, Anne M.
dc.creatorTsao, Betty P.
dc.creatorVila, Luis M.
dc.creatorVyse, Timothy J.
dc.creatorYu, Chack-Yung
dc.creatorGuthridge, Joel M.
dc.creatorKaufman, Kenneth M.
dc.creatorHarley, John B.
dc.creatorWakeland, Edward K.
dc.creatorLangefeld, Carl D.
dc.creatorGaffney, Patrick M.
dc.creatorMontgomery, Courtney G.
dc.creatorMoser, Kathy L.
dc.creator.googleLessard, Christopher J.spa
dc.creator.googleAdrianto, Indraspa
dc.creator.googleIce, John A.spa
dc.creator.googleWiley, Graham B.spa
dc.creator.googleKelly, Jennifer A.spa
dc.creator.googleGlenn, Stuart B.spa
dc.creator.googleAdler, Adam J.spa
dc.creator.googleLi, Hespa
dc.creator.googleRasmussen, Astridspa
dc.creator.googleWilliams, Adrienne H.spa
dc.creator.googleZiegler, Juliespa
dc.creator.googleComeau, Mary E.spa
dc.creator.googleMarion, Mirandaspa
dc.creator.googleWakeland, Benjamin E.spa
dc.creator.googleLiang, Chaoyingspa
dc.creator.googleRamos, Paula S.spa
dc.creator.googleGrundahl, Kiely M.spa
dc.creator.googleAlarcón-Riquelme, Marta E.spa
dc.creator.googleAlarcón, Graciela S.spa
dc.creator.googleAnaya, Juan-Manuelspa
dc.creator.googleBae, Sang-Cheolspa
dc.creator.googleBoackle, Susan A.spa
dc.creator.googleBrown, Elizabeth E.spa
dc.creator.googleChang, Deh-Mingspa
dc.creator.googleCho, Soo-Kyungspa
dc.creator.googleEdberg, Jeffrey C.spa
dc.creator.googleFreedman, Barry I.spa
dc.creator.googleGilkeson, Gary S.spa
dc.creator.googleJames, Judith A.spa
dc.creator.googleKimberly, Robert P.spa
dc.creator.googleKim, Jae-Hoonspa
dc.creator.googleMartin, Javierspa
dc.creator.googleMerrill, Joan T.spa
dc.creator.googleNiewold, Timothy B.spa
dc.creator.googlePark, So-Yeonspa
dc.creator.googlePetri, Michelle A.spa
dc.creator.googlePons-Estel, Bernardo A.spa
dc.creator.googleRamsey-Goldman, Rosalindspa
dc.creator.googleReveille, John D.spa
dc.creator.googleScofield, R. Halspa
dc.creator.googleSong, Yeong Wookspa
dc.creator.googleStevens, Anne M.spa
dc.creator.googleTsao, Betty P.spa
dc.creator.googleVyse, Timothy J.spa
dc.creator.googleYu, Chack-Yungspa
dc.creator.googleGuthridge, Joel M.spa
dc.creator.googleKaufman, Kenneth M.spa
dc.creator.googleWakeland, Edward K.spa
dc.creator.googleLangefeld, Carl D.spa
dc.creator.googleGaffney, Patrick M.spa
dc.creator.googleMontgomery, Courtney G.spa
dc.creator.googleMoser, Kathy L.spa
dc.date.accessioned2018-11-22T20:48:23Z
dc.date.available2018-11-22T20:48:23Z
dc.date.created2012
dc.date.issued2012
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 × 10 -10), transmembrane protein 39A (TMEM39A; rs1132200; p meta-all = 8.62 × 10 -9), and 17q21 (rs1453560; p meta-all = 3.48 × 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 × 10 -8 < p meta-Euro < 9.99 × 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. © 2012 The American Society of Human Genetics.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issnISSN 0002-9297
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/18736
dc.language.isoengspa
dc.relation.citationEndPage660
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage648
dc.relation.citationTitleAmerican Journal of Human Genetics
dc.relation.citationVolumeVol. 90
dc.relation.ispartofAmerican Journal of Human Genetics, ISSN: 0002-9297, Vol. 90/No. 4 (2012) pp. 648-660spa
dc.relation.urihttps://ac.els-cdn.com/S0002929712001085/1-s2.0-S0002929712001085-main.pdf?_tid=580154f5-9daa-4fd4-804f-82e2cbe1101b&acdnat=1540053229_b8df4ef9a7c6f331620255b5a6872575spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.urihttps://www.elsevier.com/about/policies/open-access-licenses/elsevier-user-license
dc.source.bibliographicCitationPetri, M., Epidemiology of systemic lupus erythematosus (2002) Best Pract. Res. Clin. Rheumatol., 16, pp. 847-858spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectAutoantigenspa
dc.subjectIkaros Transcription Factorspa
dc.subjectInterferonspa
dc.subjectInterferon Consensus Sequence Binding Proteinspa
dc.subjectMembrane Proteinspa
dc.subjectProtein Ikzf3spa
dc.subjectTransmembrane Protein 39Aspa
dc.subjectUnclassified Drugspa
dc.subjectZona Pellucida Binding Protein 2spa
dc.subjectAdamtsl1 Genespa
dc.subjectAfrican Americanspa
dc.subjectAmerican Indianspa
dc.subjectAsianspa
dc.subjectC1Orf64 Genespa
dc.subjectCadm2 Genespa
dc.subjectCfhr1 Genespa
dc.subjectChromosome 17Qspa
dc.subjectControlled Studyspa
dc.subjectEnvironmental Factorspa
dc.subjectEthnicityspa
dc.subjectEuropean Americanspa
dc.subjectFam19A2 Genespa
dc.subjectGenespa
dc.subjectGene Identificationspa
dc.subjectGene Locusspa
dc.subjectGene Mappingspa
dc.subjectGene Sequencespa
dc.subjectGenetic Associationspa
dc.subjectGenetic Riskspa
dc.subjectGenetic Susceptibilityspa
dc.subjectGenetic Variabilityspa
dc.subjectGenome Analysisspa
dc.subjectGenotypespa
dc.subjectHaplotypespa
dc.subjectHeritabilityspa
dc.subjectHigh Risk Populationspa
dc.subjectHispanicspa
dc.subjectHumanspa
dc.subjectIkzf3 Genespa
dc.subjectIl12A Genespa
dc.subjectImmune Responsespa
dc.subjectImmunological Tolerancespa
dc.subjectImmunoregulationspa
dc.subjectIrf8 Genespa
dc.subjectLoc6392 Genespa
dc.subjectLpp Genespa
dc.subjectMajor Clinical Studyspa
dc.subjectOr8D4 Genespa
dc.subjectPriority Journalspa
dc.subjectSingle Nucleotide Polymorphismspa
dc.subjectSlu7 Genespa
dc.subjectStxbp6 Genespa
dc.subjectSystemic Lupus Erythematosusspa
dc.subjectTmem39A Genespa
dc.subjectZpbp2 Genespa
dc.subjectAfrican Continental Ancestry Groupspa
dc.subjectAsian Continental Ancestry Groupspa
dc.subjectChromosome Mappingspa
dc.subjectEgg Proteinsspa
dc.subjectEuropean Continental Ancestry Groupspa
dc.subjectGenetic Predisposition To Diseasespa
dc.subjectHaplotypesspa
dc.subjectHispanic Americansspa
dc.subjectIkaros Transcription Factorspa
dc.subjectInterferon Regulatory Factorsspa
dc.subjectMalespa
dc.subjectMembrane Proteinsspa
dc.subject.keywordSingle Nucleotideeng
dc.subject.keywordArticlespa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordIndianseng
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordPolymorphismeng
dc.subject.keywordSequence Analysiseng
dc.subject.lembLupus eritematoso sistémicospa
dc.subject.lembGenéticaspa
dc.subject.lembPatologíaspa
dc.titleIdentification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication studyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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