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

• 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
• 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

• EL_1359817.pdf

• 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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