Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field To understand the genetic predisposition to selective immunoglobulin A deficiency (IgAD), we performed a genome-wide association study in 430 affected individuals (cases) from Sweden and Ic...

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Bibliographic Details
Published in:Nature Genetics
Main Authors: Ferreira, Ricardo C, Pan-Hammarström, Qiang, Graham, Robert R, Gateva, Vesela, Fontán, Gumersindo, Lee, Annette T, Ortmann, Ward, Urcelay, Elena, Fernández-Arquero, Miguel, Núñez, Concepción, Jorgensen, Gudmundur, Ludviksson, Bjorn R, Koskinen, Sinikka, Haimila, Katri, Clark, Hilary F, Klareskog, Lars, Gregersen, Peter K, Behrens, Timothy W, Hammarström, Lennart
Other Authors: Genentech, Inc., South San Francisco, California, USA.
Format: Article in Journal/Newspaper
Language:English
Published: Nature Pub. Co 2010
Subjects:
Alleles
Autoimmune Diseases
Autoimmunity
Case-Control Studies
DEAD-box RNA Helicases
Finland
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Iceland
IgA Deficiency
Linkage (Genetics)
Risk
Spain
Sweden
Validation Studies as Topic
Online Access:http://hdl.handle.net/2336/113726
https://doi.org/10.1038/ng.644
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Summary:To access publisher full text version of this article. Please click on the hyperlink in Additional Links field To understand the genetic predisposition to selective immunoglobulin A deficiency (IgAD), we performed a genome-wide association study in 430 affected individuals (cases) from Sweden and Iceland and 1,090 ethnically matched controls, and we performed replication studies in two independent European cohorts. In addition to the known association of HLA with IgAD, we identified association with a nonsynonymous variant in IFIH1 (rs1990760G>A, P = 7.3 x 10(-10)) which was previously associated with type 1 diabetes and systemic lupus erythematosus. Variants in CLEC16A, another known autoimmunity locus, showed suggestive evidence for association (rs6498142C>G, P = 1.8 x 10(-7)), and 29 additional loci were identified with P < 5 x 10(-5). A survey in IgAD of 118 validated non-HLA autoimmunity loci indicated a significant enrichment for association with autoimmunity loci as compared to non-autoimmunity loci (P = 9.0 x 10(-4)) or random SNPs across the genome (P < 0.0001). These findings support the hypothesis that autoimmune mechanisms may contribute to the pathogenesis of IgAD.

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