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

• Autoři: 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
• Rok publikování: 2016
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Nature Genetics
• Fakulta / Pracoviště MU: Lékařská fakulta
• Doi: https://doi.org/10.1038/ng.3675
• Obor: Epidemiologie, infekční nemoci a klinická imunologie
• Klíčová slova: Autoimmune diseases; Genome-wide association studies; Immunological deficiency syndromes

Přiložené soubory

• EL_1359817.pdf

• Popis: 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).

Související projekty

• The Pathophysiology and Natural Course of Patients with Primary Antibody Deficiency
• CETOCOEN Plus