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PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes

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dc.audienceComunidad Rosaristaspa
dc.creatorNamjou, Bahram
dc.creatorKim-Howard, Xana
dc.creatorSun, Celi
dc.creatorAdler, Adam
dc.creatorChung, Sharon
dc.creatorKaufman, Kenneth M.
dc.creatorKelly, Jennifer A.
dc.creatorGlenn, Stuart B.
dc.creatorGuthridge, Joel M.
dc.creatorScofield, Robert H.
dc.creatorKimberly, Robert P.
dc.creatorBrown, Elizabeth E.
dc.creatorAlarcón, Graciela S.
dc.creatorEdberg, Jeffrey C.
dc.creatorKim, Jae-Hoon
dc.creatorChoi, Jiyoung
dc.creatorRamsey-Goldman, Rosalind
dc.creatorPetri, Michelle A.
dc.creatorReveille, John D.
dc.creatorVilá, Luis M.
dc.creatorBoackle, Susan
dc.creatorFreedman, Barry I.
dc.creatorTsao, Betty P.
dc.creatorLangefeld, Carl D.
dc.creatorVyse, Timothy J.
dc.creatorJacob, Chaim O.
dc.creatorPons-Estel, Bernardo A.
dc.creatorNiewold, Timothy B.
dc.creatorMoser Sivils, Kathy
dc.creatorMerrill, Joan T.
dc.creatorAnaya, Juan-Manuel
dc.creatorGilkeson, Gary S.
dc.creatorGaffney, Patrick M.
dc.creatorBae, Sang-Cheol
dc.creatorAlarcón-Riquelme, Marta E.
dc.creatorHarley, John B.
dc.creatorCriswell, Lindsey A.
dc.creatorJames, Judith A.
dc.creatorNath, Swapan K.
dc.creator.googleNamjou, Bahram
dc.creator.googleKim-Howard, Xana
dc.creator.googleSun, Celi
dc.creator.googleAdler, Adam
dc.creator.googleChung, Sharon A.
dc.creator.googleKaufman, Kenneth M.
dc.creator.googleKelly, Jennifer A.
dc.creator.googleGlenn, Stuart B.
dc.creator.googleGuthridge, Joel M.
dc.creator.googleScofield, Robert H.
dc.creator.googleKimberly, Robert P.
dc.creator.googleBrown, Elizabeth E.
dc.creator.googleAlarcón, Graciela S.
dc.creator.googleEdberg, Jeffrey C.
dc.creator.googleKim, Jae-Hoon
dc.creator.googleChoi, Jiyoung
dc.creator.googleRamsey-Goldman, Rosalind
dc.creator.googlePetri, Michelle A.
dc.creator.googleReveille, John D.
dc.creator.googleVilá, Luis M.
dc.creator.googleBoackle, Susan A.
dc.creator.googleFreedman, Barry I.
dc.creator.googleTsao, Betty P.
dc.creator.googleLangefeld, Carl D.
dc.creator.googleVyse, Timothy J.
dc.creator.googleJacob, Chaim O.
dc.creator.googlePons-Estel, Bernardo
dc.creator.googleNiewold, Timothy B.
dc.creator.googleMoser Sivils, Kathy L.
dc.creator.googleMerrill, Joan T.
dc.creator.googleAnaya, Juan-Manuel
dc.creator.googleGilkeson, Gary S.
dc.creator.googleGaffney, Patrick M.
dc.creator.googleBae, Sang-Cheol
dc.creator.googleAlarcón-Riquelme, Marta E.
dc.creator.googleHarley, John B.
dc.creator.googleCriswell, Lindsey A.
dc.creator.googleJames, Judith A.
dc.creator.googleNath, Swapan K.
dc.date.accessioned2014-08-11T14:25:29Z
dc.date.available2014-08-11T14:25:29Z
dc.date.created2013-08
dc.date.issued2013
dc.description.abstractProtein tyrosine phosphatase non-receptor type 22 (PTPN22) is a negative regulator of T-cell activation associated with several autoimmune diseases, including systemic lupus erythematosus (SLE). Missense rs2476601 is associated with SLE in individuals with European ancestry. Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 association with SLE and its clinical subphenotypes across four ethnically diverse populations. Ten SNPs were genotyped in 8220 SLE cases and 7369 controls from in European-Americans (EA), African-Americans (AA), Asians (AS), and Hispanics (HS). We performed imputation-based association followed by conditional analysis to identify independent associations. Significantly associated SNPs were tested for association with SLE clinical sub-phenotypes, including autoantibody profiles. Multiple testing was accounted for by using false discovery rate. We successfully imputed and tested allelic association for 107 SNPs within the PTPN22 region and detected evidence of ethnic-specific associations from EA and HS. In EA, the strongest association was at rs2476601 (P = 4.761029, OR = 1.40 (95% CI = 1.25–1.56)). Independent association with rs1217414 was also observed in EA, and both SNPs are correlated with increased European ancestry. For HS imputed intronic SNP, rs3765598, predicted to be a cis-eQTL, was associated (P = 0.007, OR = 0.79 and 95% CI = 0.67–0.94). No significant associations were observed in AA or AS. Case-only analysis using lupus-related clinical criteria revealed differences between EA SLE patients positive for moderate to high titers of IgG anti-cardiolipin (aCL IgG .20) versus negative aCL IgG at rs2476601 (P = 0.012, OR = 1.65). Association was reinforced when these cases were compared to controls (P = 2.761025, OR = 2.11). Our results validate that rs2476601 is the most significantly associated SNP in individuals with European ancestry. Additionally, rs1217414 and rs3765598 may be associated with SLE. Further studies are required to confirm the involvement of rs2476601 with aCL IgG.eng
dc.format.mediumRecurso electrónicospa
dc.format.mimetypeapplication/pdf
dc.format.tipoDocumentospa
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0069404
dc.identifier.issnISSN:1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/8763
dc.language.isoeng
dc.publisherUniversidad del Rosariospa
dc.relation.citationTitlePLoS ONE 8
dc.relation.ispartofPLoS ONE 8(8): e69404. doi:10.1371/journal.pone.0069404spa
dc.relation.urihttp://www.ncbi.nlm.nih.gov.ez.urosario.edu.co/pmc/articles/PMC3737240/pdf/pone.0069404.pdf
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto completo)spa
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.spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.ddcEnfermedades
dc.subject.decsLupus eritematoso sistémicospa
dc.subject.decsPTPN22spa
dc.subject.decsInmunologíaspa
dc.subject.keywordArthritis and Clinical Immunology Research Programeng
dc.subject.keywordUniversity of Texas Health Science Center at Houstoneng
dc.subject.keywordCincinnati Children’s Hospital Medical Centereng
dc.subject.keywordJohns Hopkins University School of Medicineeng
dc.subject.keywordNorthwestern University Feinberg School of Medicineeng
dc.subject.keywordOklahoma Medical Research Foundationeng
dc.subject.keywordRosalind Russell Medical Research Center for Arthritiseng
dc.subject.keywordUS Department of Veterans Affairs Medical Centereng
dc.subject.keywordUniversity of Oklahoma Health Sciences Centereng
dc.subject.keywordUniversity of Alabama at Birminghameng
dc.subject.keywordDivision of Rheumatologyeng
dc.subject.keywordDepartment of Medicineeng
dc.subject.keywordDepartment of Internal Medicineeng
dc.subject.keywordUniversity of Puerto Rico Medical Sciences Campuseng
dc.titlePTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaArtículospa
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