title: Vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Indian women.
abstract: OBJECTIVE
  Osteoporosis is a common condition in postmenopausal women. Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a particular genetic background. However, consensus on the association of BMD with specific gene locus has not been reached. The race and ethnicity specific divergence in association studies must be assessed to predict the susceptibility and therapeutic response of associated genes. We investigated the potential association of Vitamin D receptor (VDR) gene polymorphisms ApaI, BsmI, FokI and TaqI with BMD in 246 postmenopausal Indian women (average age 54.2+/-3.4 years).
  
  
  METHODS
  The subjects were genotyped by PCR-RFLP and underwent BMD measurements at spine and hip by dual energy X-ray absorptiometery.
  
  
  RESULTS
  The average BMD at spine and hip of women with genotypes aa, bb (presence of restriction sites for ApaI and BsmI), FF and TT (absence of restriction sites for FokI and TaqI) was more than 10% higher than those with genotypes AA, BB, ff and tt, respectively. The interaction between BsmI, ApaI and TaqI genotypes showed significant effect of BsmI-ApaI genotypes (p=0.052) in this combination on BMD. However, presence of T allele in combination showed positive influence on BMD. Within the group, genotypes BB, ff and tt were significantly prevalent in women with osteoporotic bone mass, tt and BB had significantly higher adjusted odd ratio (OR) for age more than 55years.
  
  
  CONCLUSIONS
  Study reveals that VDR gene polymorphisms are associated with BMD in Indian women and perhaps, influence some determinant of bone metabolism. Ethnicity may attribute to frequency variation, however, allele impact remains same.
authors.affiliation: Molecular Immuno-diagnostics Division, National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai 400012, India.
authors.forename: Sumegha
authors.initials: S
authors.lastname: Mitra
authors.forename: Meena
authors.initials: M
authors.lastname: Desai
authors.forename: M
authors.initials: M
authors.lastname: Ikram Khatkhatay
mesh_terms: D015502:Absorptiometry, Photon; D015519:Bone Density; D017931:DNA Primers; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018167:Receptors, Calcitriol / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018167:Receptors, Calcitriol