Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture
Data(s) |
01/08/2002
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Resumo |
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 mutations that may be related to low BMD were observed within the glutamine repeat. In 495 randomly selected women of the Geelong Osteoporosis Study (GOS), the A allele was associated with higher BMD at all sites tested. The effect was maximal at the ultradistal (UD) radius (p = 0.001). In a separate fracture study, the A allele was significantly protective against Colles' fracture in elderly women but not spine and hip fracture. The A allele was associated with increased BMD and was protective against a common form of osteoporotic fracture, suggesting that RUNX2 variants may be related to genetic effects on BMD and osteoporosis.<br /> |
Identificador | |
Idioma(s) |
eng |
Publicador |
Wiley - Blackwell |
Relação |
http://dro.deakin.edu.au/eserv/DU:30042840/pasco-allelesof-2002.pdf http://dx.doi.org/10.1359/jbmr.2002.17.8.1527 |
Direitos |
2002, American Society for Bone and Mineral Research |
Palavras-Chave | #bone mineral density #RUNX2 #fracture #alleles #osteoporosis |
Tipo |
Journal Article |