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| http://dx.doi.org/10.3324/haematol.2014.118786 | DOI Listing |
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Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression.
Nat Commun
November 2016
Division of Genetics and Epidemiology, The Institute of Cancer Research, Surrey SM2 5NG, UK.
Genome-wide association studies have identified several risk loci for multiple myeloma (MM); however, the mechanisms by which they influence MM are unknown. Here by using genetic association data and functional characterization, we demonstrate that rs4487645 G>T, the most highly associated variant (P = 5.30 × 10), resides in an enhancer element 47 kb upstream of the transcription start site of c-Myc-interacting CDCA7L.
View Article and Find Full Text PDFThe 7p15.3 (rs4487645) association for multiple myeloma shows strong allele-specific regulation of the MYC-interacting gene CDCA7L in malignant plasma cells.
Haematologica
March 2015
German Cancer Research Center, Heidelberg, Germany Center for Primary Health Care Research, Lund University, Malmo, Sweden.
Inherited genetic susceptibility to monoclonal gammopathy of unknown significance.
Blood
April 2014
Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany;
Monoclonal gammopathy of undetermined significance (MGUS) is present in ∼2% of individuals age >50 years. The increased risk of multiple myeloma (MM) in relatives of individuals with MGUS is consistent with MGUS being a marker of inherited genetic susceptibility to MM. Common single-nucleotide polymorphisms (SNPs) at 2p23.
View Article and Find Full Text PDFMonoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor to multiple myeloma (MM). Though several genetic variants have been identified for MM, none have been identified for MGUS. Recently, Broderick .
View Article and Find Full Text PDFCommon variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
Nat Genet
November 2011
Molecular and Population Genetics, Division of Genetics and Epidemiology, Institute of Cancer Research, Surrey, UK.
To identify risk variants for multiple myeloma, we conducted a genome-wide association study of 1,675 individuals with multiple myeloma and 5,903 control subjects. We identified risk loci for multiple myeloma at 3p22.1 (rs1052501 in ULK4; odds ratio (OR) = 1.
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