作者
Jin Li, Silje F Jørgensen, S Melkorka Maggadottir, Marina Bakay, Klaus Warnatz, Joseph Glessner, Rahul Pandey, Ulrich Salzer, Reinhold E Schmidt, Elena Perez, Elena Resnick, Sigune Goldacker, Mary Buchta, Torsten Witte, Leonid Padyukov, Vibeke Videm, Trine Folseraas, Faranaz Atschekzei, James T Elder, Rajan P Nair, Juliane Winkelmann, Christian Gieger, Markus M Nöthen, Carsten Büning, Stephan Brand, Kathleen E Sullivan, Jordan S Orange, Børre Fevang, Stefan Schreiber, Wolfgang Lieb, Pål Aukrust, Helen Chapel, Charlotte Cunningham-Rundles, Andre Franke, Tom H Karlsen, Bodo Grimbacher, Hakon Hakonarson, Lennart Hammarström, Eva Ellinghaus
发表日期
2015/4/20
期刊
Nature communications
卷号
6
期号
1
页码范围
6804
出版商
Nature Publishing Group UK
简介
Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overlap with autoimmune disorders. Here, in the largest genetic study performed in CVID to date, we compare 778 CVID cases with 10,999 controls across 123,127 single-nucleotide polymorphisms (SNPs) on the Immunochip. We identify the first non-HLA genome-wide significant risk locus at CLEC16A (rs17806056, P=2.0 × 10−9) and confirm the previously reported human leukocyte antigen (HLA) associations on chromosome 6p21 (rs1049225, P=4.8 × 10−16). Clec16a knockdown (KD) mice showed reduced number of B cells and elevated IgM levels compared with controls, suggesting …
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J Li, SF Jørgensen, SM Maggadottir, M Bakay… - Nature communications, 2015