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  • Swaminathan, BhairaviLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine (author)

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.

  • Article/chapterEnglish2015

Publisher, publication year, extent ...

  • 2015-05-26
  • Springer Science and Business Media LLC,2015
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:49d76660-acbb-4abb-af14-25044a6ee936
  • https://lup.lub.lu.se/record/5442375URI
  • https://doi.org/10.1038/ncomms8213DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-257040URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:131416085URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Multiple myeloma (MM) is characterized by an uninhibited, clonal growth of plasma cells. While first-degree relatives of patients with MM show an increased risk of MM, the genetic basis of inherited MM susceptibility is incompletely understood. Here we report a genome-wide association study in the Nordic region identifying a novel MM risk locus at ELL2 (rs56219066T; odds ratio (OR)=1.25; P=9.6 × 10(-10)). This gene encodes a stoichiometrically limiting component of the super-elongation complex that drives secretory-specific immunoglobulin mRNA production and transcriptional regulation in plasma cells. We find that the MM risk allele harbours a Thr298Ala missense variant in an ELL2 domain required for transcription elongation. Consistent with a hypomorphic effect, we find that the MM risk allele also associates with reduced levels of immunoglobulin A (IgA) and G (IgG) in healthy subjects (P=8.6 × 10(-9) and P=6.4 × 10(-3), respectively) and, potentially, with an increased risk of bacterial meningitis (OR=1.30; P=0.0024).

Subject headings and genre

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  • Thorleifsson, Guðmar (author)
  • Jöud, MagnusLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-mjo (author)
  • Ali, MinaLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-ma16 (author)
  • Johnsson, EllinorLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)efor-ejo (author)
  • Ajore, RamLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-rao (author)
  • Sulem, Patrick (author)
  • Halvarsson, Britt-MarieLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-bhv (author)
  • Eyjolfsson, Guðmundur (author)
  • Haraldsdottir, Vilhelmina (author)
  • Hultman, ChristinaKarolinska Institutet (author)
  • Ingelsson, ErikUppsala universitet,Molekylär epidemiologi(Swepub:uu)ering425 (author)
  • Kristinsson, Sigurður YKarolinska Institutet (author)
  • Kähler, Anna KKarolinska Institutet (author)
  • Lenhoff, StigLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)med-slf (author)
  • Masson, Gisli (author)
  • Mellqvist, Ulf-Henrik (author)
  • Månsson, RobertKarolinska Institutet (author)
  • Nelander, SvenUppsala universitet,Neuroonkologi(Swepub:uu)svene843 (author)
  • Olafsson, Isleifur (author)
  • Sigurðardottir, Olof (author)
  • Steingrimsdóttir, Hlif (author)
  • Vangsted, Annette (author)
  • Vogel, Ulla (author)
  • Waage, Anders (author)
  • Nahi, HarethKarolinska Institutet (author)
  • Gudbjartsson, Daniel F (author)
  • Rafnar, Thorunn (author)
  • Turesson, IngemarLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)medf-itu (author)
  • Gullberg, UrbanLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)efor-ugu (author)
  • Stefánsson, Kári (author)
  • Hansson, MarkusLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)hema-mha (author)
  • Thorsteinsdóttir, Unnur (author)
  • Nilsson, BjörnLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)klin-bni (author)
  • Avdelningen för hematologi och transfusionsmedicinInstitutionen för laboratoriemedicin (creator_code:org_t)

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  • In:Nature Communications: Springer Science and Business Media LLC6, s. 1-82041-1723

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