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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.
Publication year - 2002
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1359/jbmr.2002.17.8.1527
Subject(s) - osteoporosis , allele , bone mineral , medicine , runx2 , genetics , bone density , endocrinology , biology , gene , transcription factor
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.