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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.date.accessioned2018-11-29T14:09:24Z
dc.date.available2018-11-29T14:09:24Z
dc.date.created2011
dc.date.issued2011 
dc.identifier.issnISSN 0002-9297
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/18752
dc.descriptionSystemic 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.
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Human Genetics, ISSN: 0002-9297, Vol. 88/No. 1 (2011) pp. 83-91
dc.relation.urihttps://ac.els-cdn.com/S0002929710006014/1-s2.0-S0002929710006014-main.pdf?_tid=3a3b3608-0ceb-4cbd-a36b-a4b96f664c62&acdnat=1540058212_4b380053c89c72215bdc4c10cf96e29a
dc.rights.urihttps://www.elsevier.com/about/policies/open-access-licenses/elsevier-user-license
dc.subjectCd44V Antigen
dc.subjectPyruvate Dehydrogenase Complex
dc.subjectAfrican American
dc.subjectAmerican Indian
dc.subjectAsian
dc.subjectCaucasian
dc.subjectChromosome 11P
dc.subjectCohort Analysis
dc.subjectControlled Study
dc.subjectGene Locus
dc.subjectGenetic Association
dc.subjectGenetic Susceptibility
dc.subjectHispanic
dc.subjectHuman
dc.subjectMajor Clinical Study
dc.subjectMale
dc.subjectMeta Analysis
dc.subjectPriority Journal
dc.subjectSingle Nucleotide Polymorphism
dc.subjectStatistical Analysis
dc.subjectSystemic Lupus Erythematosus
dc.subjectAfrican Americans
dc.subjectAmerican Native Continental Ancestry Group
dc.subjectAntigens, Cd44
dc.subjectAsian Continental Ancestry Group
dc.subjectChromosomes, Human, Pair 11
dc.subjectCohort Studies
dc.subjectEuropean Continental Ancestry Group
dc.subjectGenetic Loci
dc.subjectGenetic Predisposition To Disease
dc.subjectHaplotypes
dc.subjectHispanic Americans
dc.subjectLinkage Disequilibrium
dc.subjectMale
dc.subjectPolymorphism, Single Nucleotide
dc.subjectPyruvate Dehydrogenase Complex
dc.subject.lembLupus Eritomatoso Sistémico
dc.subject.lembEnfermedades autoinmunes
dc.subject.lembEnfermedades de la piel
dc.titleIdentification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study
dc.typearticle
dc.subject.keywordArticle
dc.subject.keywordFemale
dc.subject.keywordFemale
dc.subject.keywordHumans
dc.subject.keywordLupus Erythematosus, Systemic
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
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. 373-379
dc.rights.cc
dc.creator.googleLessard, Christopher J.
dc.creator.googleAdrianto, Indra
dc.creator.googleKelly, Jennifer A.
dc.creator.googleKaufman, Kenneth M.
dc.creator.googleGrundahl, Kiely M.
dc.creator.googleAdler, Adam
dc.creator.googleWilliams, Adrienne H.
dc.creator.googleGallant, Caroline J.
dc.creator.googleAlarcón-Riquelme, Marta E.
dc.creator.googleAnaya, Juan-Manuel
dc.creator.googleBae, Sang-Cheol
dc.creator.googleBoackle, Susan A.
dc.creator.googleBrown, Elizabeth E.
dc.creator.googleChang, Deh-Ming
dc.creator.googleCriswel, Lindsey A.
dc.creator.googleEdberg, Jeffrey C.
dc.creator.googleFreedman, Barry I.
dc.creator.googleGregersen, Peter K.
dc.creator.googleGilkeson, Gary S.
dc.creator.googleJacob, Chaim O.
dc.creator.googleJames, Judith A.
dc.creator.googleKamen, Diane L.
dc.creator.googleKimberly, Robert P.
dc.creator.googleMartin, Javier
dc.creator.googleMerrill, Joan T.
dc.creator.googleNiewold, Timothy B.
dc.creator.googlePark, So-Yeon
dc.creator.googlePetri, Michelle A.
dc.creator.googlePons-Estel, Bernardo A.
dc.creator.googleRamsey-Goldman, Rosalind
dc.creator.googleReveille, John D.
dc.creator.googleSong, Yeong Wook
dc.creator.googleStevens, Anne M.
dc.creator.googleTsao, Betty P.
dc.creator.googleVila, Luis M.
dc.creator.googleVyse, Timothy J.
dc.creator.googleYu, Chack-Yung
dc.creator.googleGuthridge, Joel M.
dc.creator.googleLangefeld, Carl D.
dc.creator.googleMontgomery, Courtney
dc.creator.googleHarley, John B.
dc.creator.googleScofield, R. Hal
dc.creator.googleScofield, R. Hal
dc.creator.googleGaffney, Patrick M.
dc.creator.googleMoser, Kathy L.


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