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

doi:10.1038/ng.2792

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

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Resumen

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 (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). We also observed suggestive associations (P meta < 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.

Idioma original	Inglés estadounidense
Páginas (desde-hasta)	1284-1294
Número de páginas	11
Publicación	Nature Genetics
Volumen	45
N.º	11
DOI	https://doi.org/10.1038/ng.2792
Estado	Publicada - nov. 2013

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Genética

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@article{2faa922a337140f8958e3be83210e298,

title = "Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sj{\"o}gren's syndrome",

abstract = "Sj{\"o}gren'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 Sj{\"o}gren's syndrome. In addition to strong association within the human leukocyte antigen (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). We also observed suggestive associations (P meta < 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 Sj{\"o}gren's syndrome.",

author = "Lessard, {Christopher J.} and He Li and Indra Adrianto and Ice, {John A.} and Astrid Rasmussen and Grundahl, {Kiely M.} and Kelly, {Jennifer A.} and Dozmorov, {Mikhail G.} and Corinne Miceli-Richard and Simon Bowman and Sue Lester and Per Eriksson and Eloranta, {Maija Leena} and Brun, {Johan G.} and G{\o}ransson, {Lasse G.} and Erna Harboe and Guthridge, {Joel M.} and Kaufman, {Kenneth M.} and Marika Kvarnstr{\"o}m and Helmi Jazebi and Graham, {Deborah S.Cunninghame} and Grandits, {Martha E.} and Nazmul-Hossain, {Abu N.M.} and Ketan Patel and Adler, {Adam J.} and Maier-Moore, {Jacen S.} and Farris, {A. Darise} and Brennan, {Michael T.} and Lessard, {James A.} and James Chodosh and Rajaram Gopalakrishnan and Hefner, {Kimberly S.} and Houston, {Glen D.} and Huang, {Andrew J.W.} and Hughes, {Pamela J.} and Lewis, {David M.} and Lida Radfar and Rohrer, {Michael D.} and Stone, {Donald U.} and Wren, {Jonathan D.} and Vyse, {Timothy J.} and Gaffney, {Patrick M.} and James, {Judith A.} and Roald Omdal and Marie Wahren-Herlenius and Illei, {Gabor G.} and Torsten Witte and Roland Jonsson and Maureen Rischmueller and Anaya, {Juan Manuel}",

year = "2013",

month = nov,

doi = "10.1038/ng.2792",

language = "English (US)",

volume = "45",

pages = "1284--1294",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "11",

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TY - JOUR

T1 - Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome

AU - Lessard, Christopher J.

AU - Li, He

AU - Adrianto, Indra

AU - Ice, John A.

AU - Rasmussen, Astrid

AU - Grundahl, Kiely M.

AU - Kelly, Jennifer A.

AU - Dozmorov, Mikhail G.

AU - Miceli-Richard, Corinne

AU - Bowman, Simon

AU - Lester, Sue

AU - Eriksson, Per

AU - Eloranta, Maija Leena

AU - Brun, Johan G.

AU - Gøransson, Lasse G.

AU - Harboe, Erna

AU - Guthridge, Joel M.

AU - Kaufman, Kenneth M.

AU - Kvarnström, Marika

AU - Jazebi, Helmi

AU - Graham, Deborah S.Cunninghame

AU - Grandits, Martha E.

AU - Nazmul-Hossain, Abu N.M.

AU - Patel, Ketan

AU - Adler, Adam J.

AU - Maier-Moore, Jacen S.

AU - Farris, A. Darise

AU - Brennan, Michael T.

AU - Lessard, James A.

AU - Chodosh, James

AU - Gopalakrishnan, Rajaram

AU - Hefner, Kimberly S.

AU - Houston, Glen D.

AU - Huang, Andrew J.W.

AU - Hughes, Pamela J.

AU - Lewis, David M.

AU - Radfar, Lida

AU - Rohrer, Michael D.

AU - Stone, Donald U.

AU - Wren, Jonathan D.

AU - Vyse, Timothy J.

AU - Gaffney, Patrick M.

AU - James, Judith A.

AU - Omdal, Roald

AU - Wahren-Herlenius, Marie

AU - Illei, Gabor G.

AU - Witte, Torsten

AU - Jonsson, Roland

AU - Rischmueller, Maureen

AU - Anaya, Juan Manuel

PY - 2013/11

Y1 - 2013/11

N2 - 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 (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). We also observed suggestive associations (P meta < 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.

AB - 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 (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). We also observed suggestive associations (P meta < 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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U2 - 10.1038/ng.2792

DO - 10.1038/ng.2792

M3 - Research Article

C2 - 24097067

AN - SCOPUS:84887116043

SN - 1061-4036

VL - 45

SP - 1284

EP - 1294

JO - Nature Genetics

JF - Nature Genetics

IS - 11

ER -

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

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Áreas temáticas de ASJC Scopus

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