Evaluation of TRAF6 in a large multiancestral lupus cohort
Objective Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with significant immune system aberrations resulting from complex heritable genetics as well as environmental factors. We undertook to study the role of TRAF6 as a candidate gene for SLE, since it plays a major role i...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2012
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/22999
- Acceso en línea:
- https://doi.org/10.1002/art.34361
https://repository.urosario.edu.co/handle/10336/22999
- Palabra clave:
- Tumor necrosis factor receptor associated factor 6
African american
Article
Calculation
Controlled study
Ethnicity
Female
Gene linkage disequilibrium
Genetic association
Genetic heterogeneity
Genotype
Heredity
Human
Immunity
Immunopathogenesis
Major clinical study
Male
Meta analysis (topic)
Organogenesis
Pedigree analysis
Population based case control study
Priority journal
Rheumatoid arthritis
Signal transduction
Single nucleotide polymorphism
Systemic lupus erythematosus
Thrombocytopenia
Alleles
Case-control studies
Cohort studies
Female
Gene frequency
Genetic association studies
Genetic predisposition to disease
Genotype
Haplotypes
Humans
Male
Tnf receptor-associated factor 6
systemic
single nucleotide
Lupus erythematosus
Polymorphism
- Rights
- License
- Abierto (Texto Completo)
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Repositorio EdocUR - U. Rosario |
repository_id_str |
|
dc.title.spa.fl_str_mv |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
title |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
spellingShingle |
Evaluation of TRAF6 in a large multiancestral lupus cohort Tumor necrosis factor receptor associated factor 6 African american Article Calculation Controlled study Ethnicity Female Gene linkage disequilibrium Genetic association Genetic heterogeneity Genotype Heredity Human Immunity Immunopathogenesis Major clinical study Male Meta analysis (topic) Organogenesis Pedigree analysis Population based case control study Priority journal Rheumatoid arthritis Signal transduction Single nucleotide polymorphism Systemic lupus erythematosus Thrombocytopenia Alleles Case-control studies Cohort studies Female Gene frequency Genetic association studies Genetic predisposition to disease Genotype Haplotypes Humans Male Tnf receptor-associated factor 6 systemic single nucleotide Lupus erythematosus Polymorphism |
title_short |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
title_full |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
title_fullStr |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
title_full_unstemmed |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
title_sort |
Evaluation of TRAF6 in a large multiancestral lupus cohort |
dc.subject.keyword.spa.fl_str_mv |
Tumor necrosis factor receptor associated factor 6 African american Article Calculation Controlled study Ethnicity Female Gene linkage disequilibrium Genetic association Genetic heterogeneity Genotype Heredity Human Immunity Immunopathogenesis Major clinical study Male Meta analysis (topic) Organogenesis Pedigree analysis Population based case control study Priority journal Rheumatoid arthritis Signal transduction Single nucleotide polymorphism Systemic lupus erythematosus Thrombocytopenia Alleles Case-control studies Cohort studies Female Gene frequency Genetic association studies Genetic predisposition to disease Genotype Haplotypes Humans Male Tnf receptor-associated factor 6 |
topic |
Tumor necrosis factor receptor associated factor 6 African american Article Calculation Controlled study Ethnicity Female Gene linkage disequilibrium Genetic association Genetic heterogeneity Genotype Heredity Human Immunity Immunopathogenesis Major clinical study Male Meta analysis (topic) Organogenesis Pedigree analysis Population based case control study Priority journal Rheumatoid arthritis Signal transduction Single nucleotide polymorphism Systemic lupus erythematosus Thrombocytopenia Alleles Case-control studies Cohort studies Female Gene frequency Genetic association studies Genetic predisposition to disease Genotype Haplotypes Humans Male Tnf receptor-associated factor 6 systemic single nucleotide Lupus erythematosus Polymorphism |
dc.subject.keyword.eng.fl_str_mv |
systemic single nucleotide Lupus erythematosus Polymorphism |
description |
Objective Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with significant immune system aberrations resulting from complex heritable genetics as well as environmental factors. We undertook to study the role of TRAF6 as a candidate gene for SLE, since it plays a major role in several signaling pathways that are important for immunity and organ development. Methods Fifteen single-nucleotide polymorphisms (SNPs) across TRAF6 were evaluated in 7,490 SLE patients and 6,780 control subjects from different ancestries. Population-based case-control association analyses and meta-analyses were performed. P values, false discovery rate q values, and odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated. Results Evidence of associations was detected in multiple SNPs. The best overall P values were obtained for SNPs rs5030437 and rs4755453 (P = 7.85 × 10 -5 and P = 4.73 × 10 -5, respectively) without significant heterogeneity among populations (P = 0.67 and P = 0.50, respectively, in Q statistic). In addition, SNP rs540386, which was previously reported to be associated with rheumatoid arthritis (RA), was found to be in linkage disequilibrium with these 2 SNPs (r 2 = 0.95) and demonstrated evidence of association with SLE in the same direction (meta-analysis P = 9.15 × 10 -4, OR 0.89 [95% CI 0.83-0.95]). The presence of thrombocytopenia improved the overall results in different populations (meta-analysis P = 1.99 × 10 -6, OR 0.57 [95% CI 0.45-0.72], for rs5030470). Finally, evidence of family-based association in 34 African American pedigrees with the presence of thrombocytopenia was detected in 1 available SNP (rs5030437) with a Z score magnitude of 2.28 (P = 0.02) under a dominant model. Conclusion Our data indicate the presence of association of TRAF6 with SLE, consistent with the previous report of association with RA. These data provide further support for the involvement of TRAF6 in the pathogenesis of autoimmunity. Copyright © 2012 by the American College of Rheumatology. |
publishDate |
2012 |
dc.date.created.spa.fl_str_mv |
2012 |
dc.date.accessioned.none.fl_str_mv |
2020-05-25T23:59:11Z |
dc.date.available.none.fl_str_mv |
2020-05-25T23:59:11Z |
dc.type.eng.fl_str_mv |
article |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.spa.spa.fl_str_mv |
Artículo |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1002/art.34361 |
dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/22999 |
url |
https://doi.org/10.1002/art.34361 https://repository.urosario.edu.co/handle/10336/22999 |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationEndPage.none.fl_str_mv |
1969 |
dc.relation.citationIssue.none.fl_str_mv |
No. 6 |
dc.relation.citationStartPage.none.fl_str_mv |
1960 |
dc.relation.citationTitle.none.fl_str_mv |
Arthritis and Rheumatism |
dc.relation.citationVolume.none.fl_str_mv |
Vol. 64 |
dc.relation.ispartof.spa.fl_str_mv |
Arthritis and Rheumatism, Vol.64, No.6 (2012); pp. 1960-1969 |
dc.relation.uri.spa.fl_str_mv |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-84861829947&doi=10.1002%2fart.34361&partnerID=40&md5=81773a26674913ac32a5a908ad336b4e |
dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
dc.rights.acceso.spa.fl_str_mv |
Abierto (Texto Completo) |
rights_invalid_str_mv |
Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
dc.format.mimetype.none.fl_str_mv |
application/pdf |
institution |
Universidad del Rosario |
dc.source.instname.spa.fl_str_mv |
instname:Universidad del Rosario |
dc.source.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional EdocUR |
repository.name.fl_str_mv |
Repositorio institucional EdocUR |
repository.mail.fl_str_mv |
edocur@urosario.edu.co |
_version_ |
1814167663641886720 |
spelling |
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We undertook to study the role of TRAF6 as a candidate gene for SLE, since it plays a major role in several signaling pathways that are important for immunity and organ development. Methods Fifteen single-nucleotide polymorphisms (SNPs) across TRAF6 were evaluated in 7,490 SLE patients and 6,780 control subjects from different ancestries. Population-based case-control association analyses and meta-analyses were performed. P values, false discovery rate q values, and odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated. Results Evidence of associations was detected in multiple SNPs. The best overall P values were obtained for SNPs rs5030437 and rs4755453 (P = 7.85 × 10 -5 and P = 4.73 × 10 -5, respectively) without significant heterogeneity among populations (P = 0.67 and P = 0.50, respectively, in Q statistic). In addition, SNP rs540386, which was previously reported to be associated with rheumatoid arthritis (RA), was found to be in linkage disequilibrium with these 2 SNPs (r 2 = 0.95) and demonstrated evidence of association with SLE in the same direction (meta-analysis P = 9.15 × 10 -4, OR 0.89 [95% CI 0.83-0.95]). The presence of thrombocytopenia improved the overall results in different populations (meta-analysis P = 1.99 × 10 -6, OR 0.57 [95% CI 0.45-0.72], for rs5030470). Finally, evidence of family-based association in 34 African American pedigrees with the presence of thrombocytopenia was detected in 1 available SNP (rs5030437) with a Z score magnitude of 2.28 (P = 0.02) under a dominant model. Conclusion Our data indicate the presence of association of TRAF6 with SLE, consistent with the previous report of association with RA. These data provide further support for the involvement of TRAF6 in the pathogenesis of autoimmunity. Copyright © 2012 by the American College of Rheumatology.application/pdfhttps://doi.org/10.1002/art.34361https://repository.urosario.edu.co/handle/10336/22999eng1969No. 61960Arthritis and RheumatismVol. 64Arthritis and Rheumatism, Vol.64, No.6 (2012); pp. 1960-1969https://www.scopus.com/inward/record.uri?eid=2-s2.0-84861829947&doi=10.1002%2fart.34361&partnerID=40&md5=81773a26674913ac32a5a908ad336b4eAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURTumor necrosis factor receptor associated factor 6African americanArticleCalculationControlled studyEthnicityFemaleGene linkage disequilibriumGenetic associationGenetic heterogeneityGenotypeHeredityHumanImmunityImmunopathogenesisMajor clinical studyMaleMeta analysis (topic)OrganogenesisPedigree analysisPopulation based case control studyPriority journalRheumatoid arthritisSignal transductionSingle nucleotide polymorphismSystemic lupus erythematosusThrombocytopeniaAllelesCase-control studiesCohort studiesFemaleGene frequencyGenetic association studiesGenetic predisposition to diseaseGenotypeHaplotypesHumansMaleTnf receptor-associated factor 6systemicsingle nucleotideLupus erythematosusPolymorphismEvaluation of TRAF6 in a large multiancestral lupus cohortarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Namjou, BahramChoi, Chan?BumHarley, Isaac T. W.Alarcón?Riquelme, Marta E.Kelly, Jennifer A.Glenn, Stuart B.Ojwang, Joshua O.Adler, AdamKim, KwangwooGallant, Caroline J.Boackle, Susan A.Criswell, Lindsey A.Kimberly, Robert P.Brown, Elizabeth E.Edberg, JeffreyAlarcón, Graciela S.Stevens, Anne M.Jacob, Chaim O.Gilkeson, Gary S.Kamen, Diane L.Tsao, Betty P.Kim, Eun?MiPark, So?YeonSung, Yoon?KyoungGuthridge, Joel M.Merrill, Joan T.Petri, MichelleRamsey?Goldman, RosalindVilá, Luis M.Niewold, Timothy B.Martin, JavierPons?Estel, Bernardo A.Vyse, Timothy J.Freedman, Barry I.Moser, Kathy L.Gaffney, Patrick M.Williams, Adrienne H.Comeau, Mary E.Reveille, John D.Kang, ChangwonJames, Judith A.Scofield, R. HalLangefeld, Carl D.Kaufman, Kenneth M.Harley, John B.Bae, Sang?CheolAnaya, Juan-Manuel10336/22999oai:repository.urosario.edu.co:10336/229992022-05-02 07:37:14.470347https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co |