Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome Academic Article

journal

  • Nature Genetics

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.

authors

publication date

  • 2013/11/1

edition

  • 45

keywords

  • Adaptive Immunity
  • Autoimmune Diseases
  • Genes
  • HLA Antigens
  • Innate Immunity
  • Keratoconjunctivitis Sicca
  • Sjogren's Syndrome
  • Xerostomia

International Standard Serial Number (ISSN)

  • 1061-4036

number of pages

  • 9

start page

  • 1284

end page

  • 1292