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Li, J.* ; Jørgensen, S.F.* ; Maggadottir, S.M.* ; Bakay, M.* ; Warnatz, K.* ; Glessner, J.T.* ; Pandey, R.C.* ; Salzer, U.* ; Schmidt, R.E.* ; Perez, E.* ; Resnick, E.* ; Goldacker, S.* ; Buchta, M.* ; Witte, T.* ; Padyukov, L.* ; Videm, V.* ; Folseraas, T.* ; Atschekzei, F.* ; Elder, J.T.* ; Nair, R.P.* ; Winkelmann, J. ; Gieger, C. ; Nöthen, M.M.* ; Büning, C.* ; Brand, S.* ; Sullivan, K.E.* ; Orange, J.S.* ; Fevang, B.* ; Schreiber, S.* ; Lieb, W.* ; Aukrust, P.* ; Chapel, H.* ; Cunningham-Rundles, C.* ; Franke, A.* ; Karlsen, T.H.* ; Grimbacher, B.* ; Hakonarson, H.* ; Hammarström, L.* ; Ellinghaus, E.*

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.

Nat. Commun. 6:6804 (2015)
Publ. Version/Full Text DOI PMC
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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 that CLEC16A may be involved in immune regulatory pathways of relevance to CVID. In conclusion, the CLEC16A associations in CVID represent the first robust evidence of non-HLA associations in this immunodeficiency condition.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association; Susceptibility Gene Clec16a; Selective Iga Deficiency; Multiple Common; Celiac-disease; Loci; Autoimmunity; Mutations; Complex; Identification
Language english
Publication Year 2015
HGF-reported in Year 2015
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 6, Issue: , Pages: , Article Number: 6804 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
Institute of Neurogenomics (ING)
POF-Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504091-004
G-500700-001
G-504100-001
G-503200-002
PubMed ID 25891430
DOI 10.1038/ncomms7804
WOS ID WOS:000353702500044
Scopus ID 84928139974
Erfassungsdatum 2015-04-23
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