Article
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Nature genetics - 1 Nov 2016
Bronson Paola G, Chang Diana, Bhangale Tushar, Seldin Michael F, Ortmann Ward, Ferreira Ricardo C, Urcelay Elena, Pereira Luis Fernández, Martin Javier, Plebani Alessandro, Lougaris Vassilios, Friman Vanda, Freiberger Tomáš, Litzman Jiri, Thon Vojtech, Pan-Hammarström Qiang, Hammarström Lennart, Graham Robert R, Behrens Timothy W
Abstract excerpt
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;...
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