| Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. | |
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MedLine Citation:
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PMID: 20694011 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Ricardo C Ferreira; Qiang Pan-Hammarström; Robert R Graham; Vesela Gateva; Gumersindo Fontán; Annette T Lee; Ward Ortmann; Elena Urcelay; Miguel Fernández-Arquero; Concepción Núñez; Gudmundur Jorgensen; Björn R Ludviksson; Sinikka Koskinen; Katri Haimila; Hilary F Clark; Lars Klareskog; Peter K Gregersen; Timothy W Behrens; Lennart Hammarström |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-08-08 |
Journal Detail:
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Title: Nature genetics Volume: 42 ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-30 Completed Date: 2010-09-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 777-80 Citation Subset: IM |
Affiliation:
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Genentech, Inc., South San Francisco, California, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Autoimmune Diseases / complications, genetics Autoimmunity / genetics* Case-Control Studies DEAD-box RNA Helicases / genetics* Finland Genetic Predisposition to Disease Genome-Wide Association Study Humans Iceland IgA Deficiency / etiology, genetics*, immunology Linkage (Genetics) Risk Spain Sweden Validation Studies as Topic |
| Grant Support | |
ID/Acronym/Agency:
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AR043274/AR/NIAMS NIH HHS; R01NS057756/NS/NINDS NIH HHS; U19 AI067152/AI/NIAID NIH HHS; U24 NS051869/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.6.1.-/DEAD-box RNA Helicases; EC 3.6.1.-/IFIH1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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