期刊
NATURE GENETICS
卷 42, 期 9, 页码 777-U69出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.644
关键词
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资金
- US National Institutes of Health [U19 AI067152, AR043274, R01NS057756, U24 NS051869]
- Swedish Research Council
- European Research Council [242551-ImmunoSwitch]
- EURO-PADnet [201549]
- Genentech, Inc.
- Stockholm County Council
- Karolinska Institutet
- Fundacao para a Ciencia e Tecnologia, Portugal [SFRH/BD/16281/2004]
- Nordic Center of Excellence in Disease Genetics
- Yale Center for Human Genetics and Genomics
- Yale Program on Neurogenetics
- Fundação para a Ciência e a Tecnologia [SFRH/BD/16281/2004] Funding Source: FCT
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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