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Identification of sequence variants influencing immunoglobulin levels.
Jonsson, Stefan; Sveinbjornsson, Gardar; de Lapuente Portilla, Aitzkoa Lopez; Swaminathan, Bhairavi; Plomp, Rosina; Dekkers, Gillian; Ajore, Ram; Ali, Mina; Bentlage, Arthur E H; Elmér, Evelina; Eyjolfsson, Gudmundur I; Gudjonsson, Sigurjon A; Gullberg, Urban; Gylfason, Arnaldur; Halldorsson, Bjarni V; Hansson, Markus; Holm, Hilma; Johansson, Åsa; Johnsson, Ellinor; Jonasdottir, Aslaug; Ludviksson, Bjorn R; Oddsson, Asmundur; Olafsson, Isleifur; Olafsson, Sigurgeir; Sigurdardottir, Olof; Sigurdsson, Asgeir; Stefansdottir, Lilja; Masson, Gisli; Sulem, Patrick; Wuhrer, Manfred; Wihlborg, Anna-Karin; Thorleifsson, Gudmar; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Vidarsson, Gestur; Jonsdottir, Ingileif; Nilsson, Björn; Stefansson, Kari.
Afiliação
  • Jonsson S; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Sveinbjornsson G; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • de Lapuente Portilla AL; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Swaminathan B; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Plomp R; Center for Proteomics and Metabolomics, Leiden University Medical Center, Leiden, the Netherlands.
  • Dekkers G; Experimental Immunohematology, Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Ajore R; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Ali M; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Bentlage AEH; Experimental Immunohematology, Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Elmér E; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Eyjolfsson GI; Clinical Immunology and Transfusion Medicine, Office of Medical Services, Lund, Sweden.
  • Gudjonsson SA; Laboratory in Mjodd, Reykjavik, Iceland.
  • Gullberg U; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Gylfason A; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Halldorsson BV; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Hansson M; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Holm H; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland.
  • Johansson Å; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Johnsson E; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jonasdottir A; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Ludviksson BR; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Oddsson A; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Olafsson I; Department of Immunology, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland.
  • Olafsson S; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Sigurdardottir O; Department of Clinical Biochemistry, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland.
  • Sigurdsson A; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Stefansdottir L; Department of Clinical Biochemistry, Akureyri Hospital, Akureyri, Iceland.
  • Masson G; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
  • Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Wuhrer M; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Wihlborg AK; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Thorleifsson G; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Gudbjartsson DF; Center for Proteomics and Metabolomics, Leiden University Medical Center, Leiden, the Netherlands.
  • Thorsteinsdottir U; Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden.
  • Vidarsson G; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jonsdottir I; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Nilsson B; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
  • Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Nat Genet ; 49(8): 1182-1191, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28628107
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, ß = -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, ß = 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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Imunoglobulinas Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Imunoglobulinas Idioma: En Ano de publicação: 2017 Tipo de documento: Article