title: Associations of polymorphisms in the vitamin D receptor gene (BsmI and FokI) with bone mineral density in postmenopausal women in Malta.
abstract: Previous studies have suggested that variations in the vitamin D receptor (VDR) gene are related to bone mineral density (BMD). In this study, the T-->C transition in the start codon and the G-->A polymorphism at the 3' end of the VDR gene, identified by endonucleases FokI and BsmI, respectively, were analysed and correlated with BMD in postmenopausal Maltese women ( n=104). Genotype frequencies observed for the VDR start codon polymorphism (SCP) were CC: 60.4%; CT: 30.7% and TT: 8.9%, while those observed for the 3' in this study were GG: 16.4%; GA: 51.9%; AA: 31.7%. In postmenopausal women, both lumbar and femoral BMD were observed to be highest in CC homozygotes for the FokI genotype and in GG homozygotes for the BsmI genotype, although in both groups the difference between the genotypes was not statistically significant, even after adjusting BMD for age, BMI and years since menopause. No evidence of linkage disequilibrium between the two alleles was observed.
authors.affiliation: Department of Pathology, University of Malta Medical School, Malta.
authors.forename: C
authors.initials: C
authors.lastname: Vidal
authors.forename: C
authors.initials: C
authors.lastname: Grima
authors.forename: M
authors.initials: M
authors.lastname: Brincat
authors.forename: N
authors.initials: N
authors.lastname: Megally
authors.forename: A
authors.initials: A
authors.lastname: Xuereb-Anastasi
mesh_terms: D000328:Adult; D000368:Aged; D015519:Bone Density / Q000235:genetics*; D018387:Codon, Initiator; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D005260:Female; D005272:Femur Neck / Q000502:physiology; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008159:Lumbar Vertebrae / Q000502:physiology; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017698:Postmenopause / Q000235:genetics / Q000502:physiology; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D018167:Receptors, Calcitriol; C053864:endodeoxyribonuclease BsmI; C035042:endodeoxyribonuclease FokI; D015252:Deoxyribonucleases, Type II Site-Specific