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- W1818450144 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 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)." @default.
- W1818450144 created "2016-06-24" @default.
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- W1818450144 date "2015-05-26" @default.
- W1818450144 modified "2023-10-18" @default.
- W1818450144 title "Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma" @default.
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- W1818450144 doi "https://doi.org/10.1038/ncomms8213" @default.
- W1818450144 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4455110" @default.
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- W1818450144 hasPublicationYear "2015" @default.
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