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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
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2011 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 43, no 3, 253-258 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2011. Vol. 43, no 3, 253-258 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-148999DOI: 10.1038/ng.766ISI: 000287693800017PubMedID: 21336280OAI: oai:DiVA.org:uu-148999DiVA: diva2:403630
Available from: 2011-03-14 Created: 2011-03-14 Last updated: 2017-12-11Bibliographically approved

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