Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.

@article{Vaughan2002AllelesOR,
  title={Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.},
  author={Tanya Vaughan and Julie A Pasco and Mark A Kotowicz and Geoffrey Charles Nicholson and Nigel A. Morrison},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2002},
  volume={17 8},
  pages={1527-34}
}
The aim of this study was to determine if DNA polymorphism within runt-related gene 2 (RUNX2)/core binding factor A1 (CBFA1) is related to bone mineral density (BMD). RUNX2 contains a glutamine-alanine repeat where mutations causing cleidocranial dysplasia (CCD) have been observed. Two common variants were detected within the alanine repeat: an 18-bp deletion and a synonymous alanine codon polymorphism with alleles GCA and GCG (noted as A and G alleles, respectively). In addition, rare… CONTINUE READING