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

Vaughan, Tanya, Pasco, Julie A., Kotowicz, Mark A., Nicholson, Geoff C. and Morrison, Nigel A. 2002, Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture, Journal of bone and mineral research, vol. 17, no. 8, pp. 1527-1534.

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Title Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture
Formatted title Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture
Author(s) Vaughan, Tanya
Pasco, Julie A.
Kotowicz, Mark A.
Nicholson, Geoff C.
Morrison, Nigel A.
Journal name Journal of bone and mineral research
Volume number 17
Issue number 8
Start page 1527
End page 1534
Total pages 8
Publisher Wiley - Blackwell
Place of publication Durham, NC
Publication date 2002-08
ISSN 0884-0431
1523-4681
Keyword(s) bone mineral density
RUNX2
fracture
alleles
osteoporosis
Summary 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.
Language eng
Field of Research 119999 Medical and Health Sciences not elsewhere classified
Socio Economic Objective 970111 Expanding Knowledge in the Medical and Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2002, American Society for Bone and Mineral Research
Persistent URL http://hdl.handle.net/10536/DRO/DU:30042840

Document type: Journal Article
Collection: School of Medicine
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