The Bsml vitamin D receptor gene polymorphism in Israeli populations and in perimenopausal and osteoporotic Ashkenazi women

Background: The association between vitamin D receptor (VDR) gene polymorph isms and bone mineral density (BMD) is controversial, and may be effected b y ethnic ancestry and age. Aims: To determine the distribution of the BsmlV DR gene polymorphism in healthy Israeli populations, and to study its assoc iation with BMD in peri menopausal and osteoporotic Ashkenazi women. Method s: Allele and genotype frequencies of the VDR gene defined by Bsml restrict ion site were determined in 634 healthy Israelis of seven ethnic groups, 90 Ashkenazi perimenopausal women and in 75 Ashkenazi osteoporotic women. Gen otype-related differences in spinal and femoral neck BMD were determined in Ashkenazi perimenopausal women. Allele and genotype frequencies in Ashkena zi osteoporotic women were compared with Ashkenazi controls. Results: The f requency of the BE genotype was higher in Yemenites compared with Ashkenazi and Libyan Jews (23, 11 and 8%, respectively, p < 0.05), and lower in Ashk enazi compared with Iraqi and Persian Jews (11, 20 and 21%, respectively, p = 0.05). BMD did not vary by genotype in perimenopausal women, nor were th ere differences in the frequencies of the B allele or the BE genotype in os teoporotic women compared with controls. Conclusions: There is ethnic varia bility in the frequency of the Bsml VDR gene polymorphism. In Ashkenazi per imenopausal and osteoporotic women this polymorphism is not associated with BMD. Copyright (C) 2001 S. Karger AG, Basel.