title: RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index.
abstract: Bone mineral density (BMD) is influenced by both environmental and genetic factors. We previously reported the association of the RUNX2 A allele with increased bone mineral density (BMD) and protection against a common form of osteoporotic fracture within a Geelong population. We genotyped 991 women from a Scottish cohort to decipher the role of RUNX2 alleles in regulating BMD. The alleles of RUNX2 within the glutamine-alanine repeat were determined by MspA1I restriction digest. Allele frequencies estimated from Scottish cohort were G allele, 0.87 +/- 0.01; A allele, 0.08 +/- 0.01; and 11Ala alanine deletion allele, 0.05 +/- 0.01. Analysis of covariance (ANCOVA) was used to adjust for the covariates weight and age for BMD at the femoral neck (FN). The A allele was associated with higher FN BMD (P = 0.035) within a postmenopausal subgroup of the population (n = 312). The effect of RUNX2 A alleles increased with increasing weight; A alleles were associated with FN BMD in those above the median BMI (BMI > 25), while no association was observed in thin/normal (BMI </= 25) postmenopausal women. Glutamine variants and an alanine insertion were identified within the group. These data suggest that the RUNX2 alleles are associated with BMD in a menopause- and weight-dependent manner.
authors.affiliation: School of Health Science, Griffith University Gold Coast Campus, 4215 Queensland, Australia.
authors.forename: Tanya
authors.initials: T
authors.lastname: Vaughan
authors.forename: David M
authors.initials: DM
authors.lastname: Reid
authors.forename: Nigel A
authors.initials: NA
authors.lastname: Morrison
authors.forename: Stuart H
authors.initials: SH
authors.lastname: Ralston
mesh_terms: D000704:Analysis of Variance; D001483:Base Sequence / Q000235:genetics; D015992:Body Mass Index; D015519:Bone Density / Q000235:genetics*; D015331:Cohort Studies; D050659:Core Binding Factor Alpha 1 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008593:Menopause / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D012606:Scotland; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D004268:DNA-Binding Proteins; C493709:RUNX2 protein, human; D050656:Transcription Factor AP-2; D014157:Transcription Factors