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Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture
journal contribution
posted on 2002-08-01, 00:00 authored by T Vaughan, Julie PascoJulie Pasco, Mark KotowiczMark Kotowicz, G Nicholson, N MorrisonThe 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.
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Journal
Journal of bone and mineral researchVolume
17Issue
8Pagination
1527 - 1534Publisher
Wiley - BlackwellLocation
Durham, NCPublisher DOI
ISSN
0884-0431eISSN
1523-4681Language
engPublication classification
C1.1 Refereed article in a scholarly journalCopyright notice
2002, American Society for Bone and Mineral ResearchUsage metrics
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