Title |
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome
|
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Published in |
Nature Genetics, October 2013
|
DOI | 10.1038/ng.2792 |
Pubmed ID | |
Authors |
Christopher J Lessard, He Li, Indra Adrianto, John A Ice, Astrid Rasmussen, Kiely M Grundahl, Jennifer A Kelly, Mikhail G Dozmorov, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Helmi Jazebi, Deborah S Cunninghame Graham, Martha E Grandits, Abu N M Nazmul-Hossain, Ketan Patel, Adam J Adler, Jacen S Maier-Moore, A Darise Farris, Michael T Brennan, James A Lessard, James Chodosh, Rajaram Gopalakrishnan, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Michael D Rohrer, Donald U Stone, Jonathan D Wren, Timothy J Vyse, Patrick M Gaffney, Judith A James, Roald Omdal, Marie Wahren-Herlenius, Gabor G Illei, Torsten Witte, Roland Jonsson, Maureen Rischmueller, Lars Rönnblom, Gunnel Nordmark, Wan-Fai Ng, Xavier Mariette, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, R Hal Scofield, Courtney G Montgomery, John B Harley, Kathy L Sivils |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 33% |
Australia | 2 | 22% |
Canada | 1 | 11% |
India | 1 | 11% |
United Kingdom | 1 | 11% |
Unknown | 1 | 11% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 67% |
Scientists | 1 | 11% |
Practitioners (doctors, other healthcare professionals) | 1 | 11% |
Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 2 | <1% |
United States | 2 | <1% |
Ireland | 1 | <1% |
Brazil | 1 | <1% |
France | 1 | <1% |
Saudi Arabia | 1 | <1% |
Netherlands | 1 | <1% |
Japan | 1 | <1% |
Mexico | 1 | <1% |
Other | 0 | 0% |
Unknown | 291 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 64 | 21% |
Researcher | 54 | 18% |
Student > Bachelor | 25 | 8% |
Student > Master | 21 | 7% |
Professor | 18 | 6% |
Other | 64 | 21% |
Unknown | 56 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 79 | 26% |
Agricultural and Biological Sciences | 60 | 20% |
Biochemistry, Genetics and Molecular Biology | 39 | 13% |
Immunology and Microbiology | 22 | 7% |
Neuroscience | 6 | 2% |
Other | 30 | 10% |
Unknown | 66 | 22% |