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Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study

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dc.creatorLessard, Christopher J.
dc.creatorAdrianto, Indra
dc.creatorKelly, Jennifer A.
dc.creatorKaufman, Kenneth M.
dc.creatorGrundahl, Kiely M.
dc.creatorAdler, Adam
dc.creatorWilliams, Adrienne H.
dc.creatorGallant, Caroline J.
dc.creatorAlarcón-Riquelme, Marta E.
dc.creatorAnaya, Juan-Manuel
dc.creatorBae, Sang-Cheol
dc.creatorBoackle, Susan
dc.creatorBrown, Elizabeth E.
dc.creatorChang, Deh-Ming
dc.creatorCriswel, Lindsey A.
dc.creatorEdberg, Jeffrey C.
dc.creatorFreedman, Barry I.
dc.creatorGregersen, Peter K.
dc.creatorGilkeson, Gary S.
dc.creatorJacob, Chaim O.
dc.creatorJames, Judith A.
dc.creatorKamen, Diane L.
dc.creatorKimberly, Robert P.
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.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.creatorBruner, Gail R.
dc.creatorLangefeld, Carl D.
dc.creatorMontgomery, Courtney
dc.creatorHarley, John B.
dc.creatorScofield, Robert H.
dc.creatorGaffney, Patrick M.
dc.creatorMoser, Kathy L.
dc.creator.googleLessard, Christopher J.spa
dc.creator.googleAdrianto, Indraspa
dc.creator.googleKelly, Jennifer A.spa
dc.creator.googleKaufman, Kenneth M.spa
dc.creator.googleGrundahl, Kiely M.spa
dc.creator.googleAdler, Adamspa
dc.creator.googleWilliams, Adrienne H.spa
dc.creator.googleGallant, Caroline J.spa
dc.creator.googleAlarcón-Riquelme, Marta E.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.googleCriswel, Lindsey A.spa
dc.creator.googleEdberg, Jeffrey C.spa
dc.creator.googleFreedman, Barry I.spa
dc.creator.googleGregersen, Peter K.spa
dc.creator.googleGilkeson, Gary S.spa
dc.creator.googleJacob, Chaim O.spa
dc.creator.googleJames, Judith A.spa
dc.creator.googleKamen, Diane L.spa
dc.creator.googleKimberly, Robert P.spa
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.googleSong, Yeong Wookspa
dc.creator.googleStevens, Anne M.spa
dc.creator.googleTsao, Betty P.spa
dc.creator.googleVila, Luis M.spa
dc.creator.googleVyse, Timothy J.spa
dc.creator.googleYu, Chack-Yungspa
dc.creator.googleGuthridge, Joel M.spa
dc.creator.googleLangefeld, Carl D.spa
dc.creator.googleMontgomery, Courtneyspa
dc.creator.googleHarley, John B.spa
dc.creator.googleScofield, R. Halspa
dc.creator.googleScofield, R. Halspa
dc.creator.googleGaffney, Patrick M.spa
dc.creator.googleMoser, Kathy L.spa
dc.date.accessioned2018-11-29T14:09:24Z
dc.date.available2018-11-29T14:09:24Z
dc.date.created2011
dc.date.issued2011
dc.description.abstractSystemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental factors. We sought to replicate a putative association at 11p13 not yet exceeding genome-wide significance (p < 5 × 10-8) identified in a genome-wide association study (GWAS). Our GWA scan identified two intergenic SNPs located between PDHX and CD44 showing suggestive evidence of association with SLE in cases of European descent (rs2732552, p = 0.004, odds ratio [OR] = 0.78; rs387619, p = 0.003, OR = 0.78). The replication cohort consisted of >15,000 subjects, including 3562 SLE cases and 3491 controls of European ancestry, 1527 cases and 1811 controls of African American (AA) descent, and 1265 cases and 1260 controls of Asian origin. We observed robust association at both rs2732552 (p = 9.03 × 10-8, OR = 0.83) and rs387619 (p = 7.7 × 10-7, OR = 0.83) in the European samples with pmeta = 1.82 × 10-9 for rs2732552. The AA and Asian SLE cases also demonstrated association at rs2732552 (p = 5 × 10-3, OR = 0.81 and p = 4.3 × 10-4, OR = 0.80, respectively). A meta-analysis of rs2732552 for all racial and ethnic groups studied produced pmeta = 2.36 × 10-13. This locus contains multiple regulatory sites that could potentially affect expression and functions of CD44, a cell-surface glycoprotein influencing immunologic, inflammatory, and oncologic phenotypes, or PDHX, a subunit of the pyruvate dehydrogenase complex. © 2011 The American Society of Human Genetics.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issnISSN 0002-9297
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/18752
dc.language.isoengspa
dc.relation.citationEndPage91
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage83
dc.relation.citationTitleAmerican Journal of Human Genetics
dc.relation.citationVolumeVol. 88
dc.relation.ispartofAmerican Journal of Human Genetics, ISSN: 0002-9297, Vol. 88/No. 1 (2011) pp. 83-91spa
dc.relation.urihttps://ac.els-cdn.com/S0002929710006014/1-s2.0-S0002929710006014-main.pdf?_tid=3a3b3608-0ceb-4cbd-a36b-a4b96f664c62&acdnat=1540058212_4b380053c89c72215bdc4c10cf96e29aspa
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.bibliographicCitationMoser, K.L., Kelly, J.A., Lessard, C.J., Harley, J.B., Recent insights into the genetic basis of systemic lupus erythematosus (2009) Genes Immun., 10, pp. 373-379spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectCd44V Antigenspa
dc.subjectCd44spa
dc.subjectPair 11spa
dc.subjectAmerican Indianspa
dc.subjectAsianspa
dc.subjectCaucasianspa
dc.subjectChromosome 11Pspa
dc.subjectCohort Analysisspa
dc.subjectControlled Studyspa
dc.subjectGene Locusspa
dc.subjectGenetic Associationspa
dc.subjectGenetic Susceptibilityspa
dc.subjectHispanicspa
dc.subjectHumanspa
dc.subjectMajor Clinical Studyspa
dc.subjectMalespa
dc.subjectMeta Analysisspa
dc.subjectPriority Journalspa
dc.subjectSingle Nucleotide Polymorphismspa
dc.subjectStatistical Analysisspa
dc.subjectSystemic Lupus Erythematosusspa
dc.subjectAfrican Americansspa
dc.subjectAmerican Native Continental Ancestry Groupspa
dc.subjectAntigensspa
dc.subjectAsian Continental Ancestry Groupspa
dc.subjectChromosomesspa
dc.subjectCohort Studiesspa
dc.subjectEuropean Continental Ancestry Groupspa
dc.subjectGenetic Locispa
dc.subjectGenetic Predisposition To Diseasespa
dc.subjectHaplotypesspa
dc.subjectHispanic Americansspa
dc.subjectLinkage Disequilibriumspa
dc.subjectMalespa
dc.subjectPolymorphismspa
dc.subjectPyruvate Dehydrogenase Complexspa
dc.subject.keywordSystemiceng
dc.subject.keywordArticlespa
dc.subject.keywordFemalespa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.lembLupus Eritomatoso Sistémicospa
dc.subject.lembEnfermedades autoinmunesspa
dc.subject.lembEnfermedades de la pielspa
dc.titleIdentification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic studyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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