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

Christopher J Lessard 1 He Li Indra Adrianto John A Ice Astrid Rasmussen Kiely M Grundahl Jennifer A Kelly 2 Mikhail G Dozmorov Corinne Miceli-Richard 3 Simon Bowman 4 Sue Lester 5 Per Eriksson Maija-Leena Eloranta 6 Johan G Brun 7 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 8 James James 9 Judith A James 9 Rajaram Gopalakrishnan 10 Kimberly S Hefner Glen D Houston Andrew J W Huang 11 Pamela J Hughes 12 David M Lewis 13 Lida Radfar Michael D Rohrer Donald U Stone 14 Jonathan D Wren Timothy J Vyse 15 Patrick M Gaffney 16, 17 Roald Omdal Marie Wahren-Herlenius Gabor G Illei Torsten Witte Roland Jonsson 18 Maureen Rischmueller Lars Rönnblom 6 Gunnel Nordmark 6 Wan-Fai Ng Xavier Mariette 3 Juan-Manuel Anaya Nelson L Rhodus Barbara M Segal R Hal Scofield Courtney G Montgomery 19 John B Harley 20 Kathy L Sivils He Lessard Deborah S Cunninghame Graham Alain Saraux 21, 22, 23
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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https://hal.univ-brest.fr/hal-01558145
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Submitted on : Friday, July 7, 2017 - 11:00:28 AM
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  • HAL Id : hal-01558145, version 1
  • PUBMED : 24097067

Citation

Christopher J Lessard, He Li, Indra Adrianto, John A Ice, Astrid Rasmussen, et al.. Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.. Nature Genetics, Nature Publishing Group, 2013, 45 (11), pp.1284-92. ⟨hal-01558145⟩

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