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Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. | LitMetric

AI Article Synopsis

  • * A large-scale association study found strong links between the disease and several genes, particularly in the HLA region and others like IRF5-TNPO3, STAT4, and IL12A.
  • * The findings underscore the role of genes related to both innate and adaptive immunity in the development of Sjögren's syndrome.

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867192PMC
http://dx.doi.org/10.1038/ng.2792DOI Listing

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