Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

ABSTRACT: Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10^-8) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10^-11; ATG13-AMBRA1, P = 6.7 × 10^-10; AHI1, P = 8.4 × 10^-10; CLEC16A, P = 1.4 × 10^-9) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3⁺ regulatory T cells. Pathway analysis of the meta-analysis results showed striking associati

SUBMITTER: Bronson PG 

PROVIDER: S-EPMC5086090 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature