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

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Authors

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 Jiří THON Vojtěch PAN-HAMMARSTRÖM Qiang HAMMARSTRÖM Lennart GRAHAM Robert R. BEHRENS Timothy W

Year of publication 2016
Type Article in Periodical
Magazine / Source Nature Genetics
MU Faculty or unit

Faculty of Medicine

Citation
Doi http://dx.doi.org/10.1038/ng.3675
Field Epidemiology, infectious diseases and clinical immunology
Keywords Autoimmune diseases; Genome-wide association studies; Immunological deficiency syndromes
Attached files
Description 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).
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