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https://hdl.handle.net/2440/81947
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Type: | Journal article |
Title: | Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjogren's syndrome |
Author: | Lessard, C. Rischmueller, M. |
Citation: | Nature Genetics, 2013; 45(11):1284-1294 |
Publisher: | Nature Publishing Group |
Issue Date: | 2013 |
ISSN: | 1061-4036 1546-1718 |
Statement of Responsibility: | Christopher J Lessard ... Maureen Rischmueller ... et al. |
Abstract: | Sjögren's syndrome is a common autoimmune disease (affecting ∼0.7% of European Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we report results of a large-scale association study of Sjögren's syndrome. In addition to strong association within the human leukocyte antigen (HLA) region at 6p21 (Pmeta = 7.65 × 10(-114)), we establish associations with IRF5-TNPO3 (Pmeta = 2.73 × 10(-19)), STAT4 (Pmeta = 6.80 × 10(-15)), IL12A (Pmeta = 1.17 × 10(-10)), FAM167A-BLK (Pmeta = 4.97 × 10(-10)), DDX6-CXCR5 (Pmeta = 1.10 × 10(-8)) and TNIP1 (Pmeta = 3.30 × 10(-8)). We also observed suggestive associations (Pmeta < 5 × 10(-5)) with variants in 29 other regions, including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2 and PHIP, among others. These results highlight the importance of genes that are involved in both innate and adaptive immunity in Sjögren's syndrome. |
Keywords: | UK Primary Sjögren's Syndrome Registry Humans Sjogren's Syndrome Histocompatibility Antigens Class II Immunity, Innate Genetic Variation Genetic Loci Adaptive Immunity Genetic Association Studies |
Rights: | © 2013 Nature America, Inc. All rights reserved. |
DOI: | 10.1038/ng.2792 |
Appears in Collections: | Aurora harvest 4 Medicine publications |
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