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Variants in ELL2 in...
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.
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- Swaminathan, Bhairavi (author)
- Lund 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
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Thorleifsson, Guðmar (author)
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- Jöud, Magnus (author)
- Lund 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
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- Ali, Mina (author)
- Lund 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
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- Johnsson, Ellinor (author)
- Lund 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
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- Ajore, Ram (author)
- Lund 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
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Sulem, Patrick (author)
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- Halvarsson, Britt-Marie (author)
- Lund 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
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Eyjolfsson, Guðmundur (author)
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Haraldsdottir, Vilhelmina (author)
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- Hultman, Christina (author)
- Karolinska Institutet
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- Ingelsson, Erik (author)
- Uppsala universitet,Molekylär epidemiologi
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- Kristinsson, Sigurður Y (author)
- Karolinska Institutet
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- Kähler, Anna K (author)
- Karolinska Institutet
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- Lenhoff, Stig (author)
- Lund 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
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Masson, Gisli (author)
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Mellqvist, Ulf-Henrik (author)
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- Månsson, Robert (author)
- Karolinska Institutet
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- Nelander, Sven (author)
- Uppsala universitet,Neuroonkologi
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Olafsson, Isleifur (author)
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Sigurðardottir, Olof (author)
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Steingrimsdóttir, Hlif (author)
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Vangsted, Annette (author)
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Vogel, Ulla (author)
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Waage, Anders (author)
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- Nahi, Hareth (author)
- Karolinska Institutet
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Gudbjartsson, Daniel F (author)
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Rafnar, Thorunn (author)
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- Turesson, Ingemar (author)
- Lund 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
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- Gullberg, Urban (author)
- Lund 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
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Stefánsson, Kári (author)
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- Hansson, Markus (author)
- Lund 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
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Thorsteinsdóttir, Unnur (author)
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- Nilsson, Björn (author)
- Lund 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
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(creator_code:org_t)
- 2015-05-26
- 2015
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6, s. 1-8
- Related links:
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https://uu.diva-port... (primary) (Raw object)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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Swaminathan, Bha ...
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Thorleifsson, Gu ...
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Jöud, Magnus
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Ali, Mina
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Johnsson, Ellino ...
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Ajore, Ram
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Sulem, Patrick
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Halvarsson, Brit ...
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Eyjolfsson, Guðm ...
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Haraldsdottir, V ...
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Hultman, Christi ...
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Ingelsson, Erik
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Kristinsson, Sig ...
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Kähler, Anna K
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Lenhoff, Stig
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Masson, Gisli
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Mellqvist, Ulf-H ...
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Månsson, Robert
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Nelander, Sven
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Olafsson, Isleif ...
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Sigurðardottir, ...
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Steingrimsdóttir ...
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Vangsted, Annett ...
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Vogel, Ulla
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Waage, Anders
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Nahi, Hareth
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Gudbjartsson, Da ...
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Rafnar, Thorunn
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Turesson, Ingema ...
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Gullberg, Urban
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Stefánsson, Kári
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Hansson, Markus
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Thorsteinsdóttir ...
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Nilsson, Björn
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
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Nature Communica ...
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Lund University
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Uppsala University
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Karolinska Institutet