| Literature DB >> 28628107 |
Stefan Jonsson1, Gardar Sveinbjornsson1, Aitzkoa Lopez de Lapuente Portilla2, Bhairavi Swaminathan2, Rosina Plomp3, Gillian Dekkers4, Ram Ajore2, Mina Ali2, Arthur E H Bentlage4, Evelina Elmér2,5, Gudmundur I Eyjolfsson6, Sigurjon A Gudjonsson1, Urban Gullberg2, Arnaldur Gylfason1, Bjarni V Halldorsson1,7, Markus Hansson2, Hilma Holm1, Åsa Johansson2, Ellinor Johnsson2, Aslaug Jonasdottir1, Bjorn R Ludviksson8, Asmundur Oddsson1, Isleifur Olafsson9, Sigurgeir Olafsson1, Olof Sigurdardottir10,11, Asgeir Sigurdsson1, Lilja Stefansdottir1, Gisli Masson1, Patrick Sulem1, Manfred Wuhrer3, Anna-Karin Wihlborg2, Gudmar Thorleifsson1, Daniel F Gudbjartsson1,12, Unnur Thorsteinsdottir1,11, Gestur Vidarsson4, Ingileif Jonsdottir1,8,11, Björn Nilsson2,13, Kari Stefansson1,11.
Abstract
Immunoglobulins are the effector molecules of the adaptive humoral immune system. In a genome-wide association study of 19,219 individuals, we found 38 new variants and replicated 5 known variants associating with IgA, IgG or IgM levels or with composite immunoglobulin traits, accounted for by 32 loci. Variants at these loci also affect the risk of autoimmune diseases and blood malignancies and influence blood cell development. Notable associations include a rare variant at RUNX3 decreasing IgA levels by shifting isoform proportions (rs188468174[C>T]: P = 8.3 × 10-55, β = -0.90 s.d.), a rare in-frame deletion in FCGR2B abolishing IgG binding to the encoded receptor (p.Asn106del: P = 4.2 × 10-8, β = 1.03 s.d.), four IGH locus variants influencing class switching, and ten new associations with the HLA region. Our results provide new insight into the regulation of humoral immunity.Entities:
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Year: 2017 PMID： 28628107 DOI： 10.1038/ng.3897
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330