dc.creatorZhao, Jian 
dc.creatorWu, Hui 
dc.creatorKhosravi, Melanie 
dc.creatorCui, Huijuan 
dc.creatorQian, Xiaoxia 
dc.creatorKelly, Jennifer A. 
dc.creatorKaufman, Kenneth M. 
dc.creatorLangefeld, Carl D. 
dc.creatorWilliams, Adrienne H. 
dc.creatorComeau, Mary 
dc.creatorZiegler, Julie T. 
dc.creatorMarion, Miranda C. 
dc.creatorAdler, Adam 
dc.creatorGlenn, Stuart B. 
dc.creatorAlarcón-Riquelme, Marta E. 
dc.creatorPons-Estel, Bernardo A. 
dc.creatorHarley, John B. 
dc.creatorBae, Sang-Cheol 
dc.creatorBang, So-Young 
dc.creatorCho, Soo-Kyung 
dc.creatorJacob, Chaim O. 
dc.creatorVyse, Timothy J. 
dc.creatorNiewold, Timothy B. 
dc.creatorGaffney, Patrick M. 
dc.creatorMoser, Kathy L. 
dc.creatorKimberly, Robert P. 
dc.creatorEdberg, Jeffrey C. 
dc.creatorBrown, Elizabeth E. 
dc.creatorAlarcón, Graciela S. 
dc.creatorPetri, Michelle A. 
dc.creatorRamsey-Goldman, Rosalind 
dc.creatorVilá, Luis M. 
dc.creatorReveille, John D. 
dc.creatorJames, Judith A. 
dc.creatorGilkeson, Gary S. 
dc.creatorKamen, Diane L. 
dc.creatorFreedman, Barry I. 
dc.creatorAnaya, Juan-Manuel 
dc.creatorMerrill, Joan T. 
dc.creatorCriswell, Lindsey A. 
dc.creatorScofield, Robert H. 
dc.creatorStevens, Anne M. 
dc.creatorGuthridge, Joel M. 
dc.creatorChang, Deh-Ming 
dc.creatorSong, Yeong Wook 
dc.creatorPark, Ji Ah 
dc.creatorYoung Lee, Eun 
dc.creatorBoackle, Susan 
dc.creatorGrossman, Jennifer M. 
dc.creatorHahn, Bevra H. 
dc.creatorGoodship, Timothy H. J. 
dc.creatorCantor, Rita M. 
dc.creatorYu, Chack-Yung 
dc.creatorShen, Nan 
dc.creatorTsao, Betty P. 
dc.description.abstractSystemic lupus erythematosus (SLE), a complex polygenic autoimmune disease, is associated with increased complement activation. Variants of genes encoding complement regulator factor H (CFH) and five CFH-related proteins (CFHR1-CFHR5) within the chromosome 1q32 locus linked to SLE, have been associated with multiple human diseases and may contribute to dysregulated complement activation predisposing to SLE. We assessed 60 SNPs covering the CFH-CFHRs region for association with SLE in 15,864 case-control subjects derived from four ethnic groups. Significant allelic associations with SLE were detected in European Americans (EA) and African Americans (AA), which could be attributed to an intronic CFH SNP (rs6677604, in intron 11, Pmeta = 6.6×10-8, OR = 1.18) and an intergenic SNP between CFHR1 and CFHR4 (rs16840639, Pmeta = 2.9×10-7, OR = 1.17) rather than to previously identified disease-associated CFH exonic SNPs, including I62V, Y402H, A474A, and D936E. In addition, allelic association of rs6677604 with SLE was subsequently confirmed in Asians (AS). Haplotype analysis revealed that the underlying causal variant, tagged by rs6677604 and rs16840639, was localized to a ~146 kb block extending from intron 9 of CFH to downstream of CFHR1. Within this block, the deletion of CFHR3 and CFHR1 (CFHR3-1Δ), a likely causal variant measured using multiplex ligation-dependent probe amplification, was tagged by rs6677604 in EA and AS and rs16840639 in AA, respectively. Deduced from genotypic associations of tag SNPs in EA, AA, and AS, homozygous deletion of CFHR3-1Δ (Pmeta = 3.2×10-7, OR = 1.47) conferred a higher risk of SLE than heterozygous deletion (Pmeta = 3.5×10-4, OR = 1.14). These results suggested that the CFHR3-1Δ deletion within the SLE-associated block, but not the previously described exonic SNPs of CFH, might contribute to the development of SLE in EA, AA, and AS, providing new insights into the role of complement regulators in the pathogenesis of SLE.
dc.format.mediumRecurso electrónico
dc.relation.ispartofPLoS Genetics ISSN 15537390 V. 7 N. 5 May 2011
dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.titleAssociation of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
dc.audienceComunidad Rosarista
dc.publisherUniversidad del Rosario
dc.subject.keywordcomplement factor H
dc.subject.keywordcomplement regulator factor H related protein 1
dc.subject.keywordcomplement regulator factor H related protein 2
dc.subject.keywordcomplement regulator factor H related protein
dc.subject.keywordcomplement regulator factor H related protein
dc.subject.keywordcomplement regulator factor H related protein
dc.subject.keywordplasma protein
dc.subject.keywordunclassified drug
dc.subject.keywordbladder tumor associated antigen
dc.subject.keywordbladder tumor-associated antigen
dc.subject.keywordcomplement factor H
dc.subject.keywordtumor antigen
dc.subject.keywordtumor marker
dc.subject.decsLupus eritematoso sistémico
dc.rights.accesoAbierto (Texto completo)
dc.rights.licenciaEL AUTOR, manifiesta que la obra objeto de la presente autorización es original y la realizó sin violar o usurpar derechos de autor de terceros, por lo tanto la obra es de exclusiva autoría y tiene la titularidad sobre la misma.
dc.creator.googleZhao, Jian
dc.creator.googleWu, Hui
dc.creator.googleKhosravi, Melanie
dc.creator.googleCui, Huijuan
dc.creator.googleQian, Xiaoxia
dc.creator.googleKelly, Jennifer A.
dc.creator.googleKaufman, Kenneth M.
dc.creator.googleLangefeld, Carl D.
dc.creator.googleWilliams, Adrienne H.
dc.creator.googleComeau, Mary E.
dc.creator.googleZiegler, Julie T.
dc.creator.googleMarion, Miranda C.
dc.creator.googleAdler, Adam
dc.creator.googleGlenn, Stuart B.
dc.creator.googleAlarcón-Riquelme, Marta E.
dc.creator.googlePons-Estel, Bernardo A.
dc.creator.googleHarley, John B.
dc.creator.googleBae, Sang-Cheol
dc.creator.googleBang, So-Young
dc.creator.googleCho, Soo-Kyung
dc.creator.googleJacob, Chaim O.
dc.creator.googleVyse, Timothy J.
dc.creator.googleNiewold, Timothy B.
dc.creator.googleGaffney, Patrick M.
dc.creator.googleMoser, Kathy L.
dc.creator.googleKimberly, Robert P.
dc.creator.googleEdberg, Jeffrey C.
dc.creator.googleBrown, Elizabeth E.
dc.creator.googleAlarcon, Graciela S.
dc.creator.googlePetri, Michelle A.
dc.creator.googleRamsey-Goldman, Rosalind
dc.creator.googleVilá, Luis M.
dc.creator.googleReveille, John D.
dc.creator.googleJames, Judith A.
dc.creator.googleGilkeson, Gary S.
dc.creator.googleKamen, Diane L.
dc.creator.googleFreedman, Barry I.
dc.creator.googleAnaya, Juan-Manuel
dc.creator.googleMerrill, Joan T.
dc.creator.googleCriswell, Lindsey A.
dc.creator.googleScofield, R. Hal
dc.creator.googleStevens, Anne M.
dc.creator.googleGuthridge, Joel M.
dc.creator.googleChang, Deh-Ming
dc.creator.googleSong, Yeong Wook
dc.creator.googlePark, Ji Ah
dc.creator.googleLee, Eun Young
dc.creator.googleBoackle, Susan A.
dc.creator.googleGrossman, Jennifer M.
dc.creator.googleHahn, Bevra H.
dc.creator.googleGoodship, Timothy H. J.
dc.creator.googleCantor, Rita M.
dc.creator.googleYu, Chack-Yung
dc.creator.googleShen, Nan
dc.creator.googleTsao, Betty P.

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