Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
DC Field | Value | Language |
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dc.contributor.author | Adrianto, Indra | - |
dc.contributor.author | Wen, Feng | - |
dc.contributor.author | Templeton, Amanda | - |
dc.contributor.author | Wiley, Graham | - |
dc.contributor.author | King, Jarrod B. | - |
dc.contributor.author | Lessard, Christopher J. | - |
dc.contributor.author | Bates, Jared S. | - |
dc.contributor.author | Hu, Yanqing | - |
dc.contributor.author | Kelly, Jennifer A. | - |
dc.contributor.author | Kaufman, Kenneth M. | - |
dc.contributor.author | Guthridge, Joel M. | - |
dc.contributor.author | Alarcon-Riquelme, Marta E. | - |
dc.contributor.author | Anaya, Juan-Manuel | - |
dc.contributor.author | Bae, Sang-Cheol | - |
dc.contributor.author | Bang, So-Young | - |
dc.contributor.author | Boackle, Susan A. | - |
dc.contributor.author | Brown, Elizabeth E. | - |
dc.contributor.author | Petri, Michelle A. | - |
dc.contributor.author | Gallant, Caroline | - |
dc.contributor.author | Ramsey-Goldman, Rosalind | - |
dc.contributor.author | Reveille, John D. | - |
dc.contributor.author | Vila, Luis M. | - |
dc.contributor.author | Criswell, Lindsey A. | - |
dc.contributor.author | Edberg, Jeffrey C. | - |
dc.contributor.author | Freedman, Barry I. | - |
dc.contributor.author | Gregersen, Peter K. | - |
dc.contributor.author | Gilkeson, Gary S. | - |
dc.contributor.author | Jacob, Chaim O. | - |
dc.contributor.author | James, Judith A. | - |
dc.contributor.author | Kamen, Diane L. | - |
dc.contributor.author | Kimberly, Robert P. | - |
dc.contributor.author | Martin, Javier | - |
dc.contributor.author | Merrill, Joan T. | - |
dc.contributor.author | Niewold, Timothy B. | - |
dc.contributor.author | Park, So-Yeon | - |
dc.contributor.author | Pons-Estel, Bernardo A. | - |
dc.contributor.author | Scofield, R. Hal | - |
dc.contributor.author | Stevens, Anne M. | - |
dc.contributor.author | Tsao, Betty P. | - |
dc.contributor.author | Vyse, Timothy J. | - |
dc.contributor.author | Langefeld, Carl D. | - |
dc.contributor.author | Harley, John B. | - |
dc.contributor.author | Moser, Kathy L. | - |
dc.contributor.author | Webb, Carol F. | - |
dc.contributor.author | Humphrey, Mary Beth | - |
dc.contributor.author | Montgomery, Courtney Gray | - |
dc.contributor.author | Gaffney, Patrick M. | - |
dc.date.accessioned | 2021-08-02T19:53:00Z | - |
dc.date.available | 2021-08-02T19:53:00Z | - |
dc.date.created | 2021-05-11 | - |
dc.date.issued | 2011-03 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/28176 | - |
dc.description.abstract | Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT>A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE in subjects of European (P = 1.58 x 10(-8), odds ratio = 1.70) and Korean (P = 8.33 x 10(-10), odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-kappa B subunits with reduced avidity. Further, compared with the non-risk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.title | Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Bae, Sang-Cheol | - |
dc.contributor.affiliatedAuthor | Bang, So-Young | - |
dc.identifier.doi | 10.1038/ng.766 | - |
dc.identifier.scopusid | 2-s2.0-79952192654 | - |
dc.identifier.wosid | 000287693800017 | - |
dc.identifier.bibliographicCitation | NATURE GENETICS, v.43, no.3, pp.253 - 258 | - |
dc.relation.isPartOf | NATURE GENETICS | - |
dc.citation.title | NATURE GENETICS | - |
dc.citation.volume | 43 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 253 | - |
dc.citation.endPage | 258 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | AFRICAN-AMERICANS | - |
dc.subject.keywordPlus | RHEUMATOID-ARTHRITIS | - |
dc.subject.keywordPlus | ENZYME A20 | - |
dc.subject.keywordPlus | ADMIXTURE | - |
dc.subject.keywordPlus | HAPLOTYPE | - |
dc.subject.keywordPlus | RISK | - |
dc.subject.keywordPlus | 6Q23 | - |
dc.subject.keywordPlus | MAP | - |
dc.subject.keywordPlus | POLYMORPHISMS | - |
dc.identifier.url | https://www.nature.com/articles/ng.766 | - |
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