Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjogren's syndrome
2013 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 45, no 11, 1284-+ p.Article in journal (Refereed) Published
Sjogrens syndrome is a common autoimmune disease (affecting similar to 0.7% of European Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we report results of a large-scale association study of Sjogrens syndrome. In addition to strong association within the human leukocyte antigen (HLA) region at 6p21 (P-meta = 7.65 x 10(-114)), we establish associations with IRF5-TNPO3 (P-meta = 2.73 x 10(-19)), STAT4 (Pmeta = 6.80 x 10-15), IL12A (P-meta = 1.17 x 10(-10)), FAM167ABLK (P-meta = 4.97 x 10(-10)), DDX6-CXCR5 (P-meta = 1.10 x 10(-8)) and TNIP1 (P-meta = 3.30 x 10(-8)). We also observed suggestive associations (P-meta andlt; 5 x 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 Sjogrens syndrome.
Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP, 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA , 2013. Vol. 45, no 11, 1284-+ p.
Engineering and Technology
IdentifiersURN: urn:nbn:se:liu:diva-102078DOI: 10.1038/ng.2792ISI: 000326384100008OAI: oai:DiVA.org:liu-102078DiVA: diva2:669044
Funding Agencies|NIH|P50 AR06080405P01 AR049084-105P30 AR0534831U01 AI1019345P30 GM103510|Intramural Research Program of the National Institute of Dental and Craniofacial Research||American College of Rheumatology Research and Education Foundation/Abbott Health Professional Graduate Student Preceptorship Award||2013-12-022013-11-292014-03-11