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  • Swaminathan, Bhairavi (author)

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

  • E-article/E-chapterEnglish2015

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  • 2015

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  • LIBRIS-ID:20194547
  • http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-257040uri
  • urn:nbn:se:uu:diva-257040urn
  • 10.1038/ncomms8213doi

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  • Language:English

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  • 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 x 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 x 10(-9) and P = 6.4 x 10(-3), respectively) and, potentially, with an increased risk of bacterial meningitis (OR = 1.30; P = 0.0024).

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  • Thorleifsson, Guomar (author)
  • Joud, Magnus (author)
  • Ali, Mina (author)
  • Johnsson, Ellinor (author)
  • Ajore, Ram (author)
  • Sulem, Patrick (author)
  • Halvarsson, Britt-Marie (author)
  • Eyjolfsson, Guomundur (author)
  • Haraldsdottir, Vilhelmina (author)
  • Hultman, Christina (author)
  • Ingelsson, Erik (author)
  • Kristinsson, Sigurour Y. (author)
  • Kahler, Anna K. (author)
  • Lenhoff, Stig (author)
  • Masson, Gisli (author)
  • Mellqvist, Ulf-Henrik (author)
  • Mansson, Robert (author)
  • Nelander, Sven (author)
  • Olafsson, Isleifur (author)
  • Siguroardottir, Olof (author)
  • Steingrimsdottir, Hlif (author)
  • Vangsted, Annette (author)
  • Vogel, Ulla (author)
  • Waage, Anders (author)
  • Nahi, Hareth (author)
  • Gudbjartsson, Daniel F. (author)
  • Rafnar, Thorunn (author)
  • Turesson, Ingemar (author)
  • Gullberg, Urban (author)
  • Stefansson, Kari (author)
  • Hansson, Markus (author)
  • Thorsteinsdottir, Unnur (author)
  • Nilsson, Bjorn (author)
  • Uppsala universitetMedicinska och farmaceutiska vetenskapsområdet (publisher)
  • Uppsala universitetMedicinska och farmaceutiska vetenskapsområdet (publisher)

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  • Part of/supplement to:channel record
  • In:VärdpublikationNature Communications62041-1723

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