dc.contributor.author | Swaminathan, Bhairavi | |
dc.contributor.author | Thorleifsson, Gudmar | |
dc.contributor.author | Jöud, Magnus | |
dc.contributor.author | Ali, Mina | |
dc.contributor.author | Johnsson, Ellinor | |
dc.contributor.author | Ajore, Ram | |
dc.contributor.author | Sulem, Patrick | |
dc.contributor.author | Halvarsson, Britt-Marie | |
dc.contributor.author | Eyjolfsson, Gudmundur I. | |
dc.contributor.author | Haraldsdottir, Vilhelmina | |
dc.contributor.author | Hultman, Christina | |
dc.contributor.author | Ingelsson, Erik | |
dc.contributor.author | Kristinsson, Sigurdur Y | |
dc.contributor.author | Kähler, Anna Katarina | |
dc.contributor.author | Lenhoff, Stig | |
dc.contributor.author | Masson, Gisli | |
dc.contributor.author | Mellqvist, Ulf-Henrik | |
dc.contributor.author | Månsson, Robert | |
dc.contributor.author | Nelander, Sven | |
dc.contributor.author | Olafsson, Isleifur | |
dc.contributor.author | Sigurdardóttir, Olöf Gudrun | |
dc.contributor.author | Steingrimsdottir, Hlif | |
dc.contributor.author | Vangsted, Annette | |
dc.contributor.author | Vogel, Ulla | |
dc.contributor.author | Waage, Anders | |
dc.contributor.author | Nahi, Hareth | |
dc.contributor.author | Gudbjartsson, Daniel F. | |
dc.contributor.author | Rafnar, Thorunn | |
dc.contributor.author | Turesson, Ingemar | |
dc.contributor.author | Gullberg, Urban | |
dc.contributor.author | Stefansson, Kari | |
dc.contributor.author | Hansson, Markus | |
dc.contributor.author | Thorsteinsdottir, Unnur | |
dc.contributor.author | Nilsson, Björn | |
dc.date.accessioned | 2015-09-29T12:07:21Z | |
dc.date.accessioned | 2015-10-20T09:29:53Z | |
dc.date.available | 2015-09-29T12:07:21Z | |
dc.date.available | 2015-10-20T09:29:53Z | |
dc.date.issued | 2015 | |
dc.identifier.citation | Nature Communications 2015, 6 | nb_NO |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | http://hdl.handle.net/11250/2357182 | |
dc.description.abstract | 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 genomewide
association study in the Nordic region identifying a novel MM risk locus at ELL2
(rs56219066T; odds ratio (OR)=1.25; P=9.6 x10 -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=8.6x 10- 9 and P=6.4x 10- 3, respectively) and, potentially, with an
increased risk of bacterial meningitis (OR=1.30; P=0.0024). | nb_NO |
dc.language.iso | eng | nb_NO |
dc.publisher | Nature Publishing Group | nb_NO |
dc.title | Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma | nb_NO |
dc.type | Journal article | nb_NO |
dc.type | Peer reviewed | en_GB |
dc.date.updated | 2015-09-29T12:07:21Z | |
dc.source.volume | 6 | nb_NO |
dc.source.journal | Nature Communications | nb_NO |
dc.identifier.doi | 10.1038/ncomms8213 | |
dc.identifier.cristin | 1257321 | |
dc.description.localcode | (c)2015 Macmillan Publishers Limited. All rights reserved. Creative Commons Attribution License 4.0. | nb_NO |