The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma

Nat Genet. 2013 May;45(5):522-525. doi: 10.1038/ng.2583. Epub 2013 Mar 17.

Abstract

A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genome-wide association studies of multiple myeloma including a total of 1,661 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(11;14)(q13;q32) translocation in which CCND1 is placed under the control of the immunoglobulin heavy chain enhancer was strongly associated with the CCND1 c.870G>A polymorphism (P = 7.96 × 10(-11)). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Cyclin D1 / genetics*
  • Genome, Human
  • Genome-Wide Association Study*
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Multiple Myeloma / etiology*
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors
  • Translocation, Genetic*

Substances

  • CCND1 protein, human
  • Cyclin D1