Please use this identifier to cite or link to this item: http://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.
RMID: 0020133068
DOI: 10.1038/ng.2792
Appears in Collections:Medicine publications

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