Genome-wide association study identifies two susceptibility loci for osteosarcoma

Nat Genet. 2013 Jul;45(7):799-803. doi: 10.1038/ng.2645. Epub 2013 Jun 2.

Abstract

Osteosarcoma is the most common primary bone malignancy of adolescents and young adults. To better understand the genetic etiology of osteosarcoma, we performed a multistage genome-wide association study consisting of 941 individuals with osteosarcoma (cases) and 3,291 cancer-free adult controls of European ancestry. Two loci achieved genome-wide significance: a locus in the GRM4 gene at 6p21.3 (encoding glutamate receptor metabotropic 4; rs1906953; P = 8.1 × 10⁻⁹) and a locus in the gene desert at 2p25.2 (rs7591996 and rs10208273; P = 1.0 × 10⁻⁸ and 2.9 × 10⁻⁷, respectively). These two loci warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Bone Neoplasms / ethnology
  • Bone Neoplasms / genetics*
  • Case-Control Studies
  • Female
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Osteosarcoma / ethnology
  • Osteosarcoma / genetics*
  • Polymorphism, Single Nucleotide
  • White People / genetics
  • Young Adult