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

Sjögren’s syndrome is a common autoimmune disease (~0.7% of European Americans) typically presenting as keratoconjunctivitis sicca and xerostomia. In addition to strong association within the HLA region at 6p21 (P(meta)=7.65×10(−114)), we establish associations with IRF5-TNPO3 (P(meta)=2.73×10(−19))...

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Detalles Bibliográficos
Autores principales: Lessard, Christopher J., Li, He, Adrianto, Indra, Ice, John A., Rasmussen, Astrid, Grundahl, Kiely M., Kelly, Jennifer A., Dozmorov, Mikhail G., Miceli-Richard, Corinne, Bowman, Simon, Lester, Sue, Eriksson, Per, Eloranta, Maija-Leena, Brun, Johan G., Gøransson, Lasse G., Harboe, Erna, Guthridge, Joel M., Kaufman, Kenneth M., Kvarnström, Marika, Jazebi, Helmi, Graham, Deborah S. Cunninghame, Grandits, Martha E., Nazmul-Hossain, Abu N. M., Patel, Ketan, Adler, Adam J., Maier-Moore, Jacen S., Farris, A. Darise, Brennan, Michael T., Lessard, James A., Chodosh, James, Gopalakrishnan, Rajaram, Hefner, Kimberly S., Houston, Glen D., Huang, Andrew J.W., Hughes, Pamela J., Lewis, David M., Radfar, Lida, Rohrer, Michael D., Stone, Donald U., Wren, Jonathan D., Vyse, Timothy J., Gaffney, Patrick M., James, Judith A., Omdal, Roald, Wahren-Herlenius, Marie, Illei, Gabor G., Witte, Torsten, Jonsson, Roland, Rischmueller, Maureen, Rönnblom, Lars, Nordmark, Gunnel, Ng, Wan-Fai, Mariette, Xavier, Anaya, Juan-Manuel, Rhodus, Nelson L., Segal, Barbara M., Scofield, R. Hal, Montgomery, Courtney G., Harley, John B., Sivils, Kathy L. Moser
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867192/
https://www.ncbi.nlm.nih.gov/pubmed/24097067
http://dx.doi.org/10.1038/ng.2792
Descripción
Sumario:Sjögren’s syndrome is a common autoimmune disease (~0.7% of European Americans) typically presenting as keratoconjunctivitis sicca and xerostomia. In addition to strong association within the HLA region at 6p21 (P(meta)=7.65×10(−114)), we establish associations with IRF5-TNPO3 (P(meta)=2.73×10(−19)), STAT4 (P(meta)=6.80×10(−15)), IL12A (P(meta) =1.17×10(−10)), FAM167A-BLK (P(meta)=4.97×10(−10)), DDX6-CXCR5 (P(meta)=1.10×10(−8)), and TNIP1 (P(meta)=3.30×10(−8)). Suggestive associations with P(meta)<5×10(−5) were observed with 29 regions including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2, and PHIP amongst others. These results highlight the importance of genes involved in both innate and adaptive immunity in Sjögren’s syndrome.

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