Vitamin D receptor gene polymorphism and osteoporosis in the Turkish population

Osteoporosis is one of the most important medical problems facing the aging population. It is defined as a decrease in the bone mass leading to an unacceptably high risk of fractures. Osteoporosis is a multifactorial disease. It is well established that genetic factors are involved in the pathogenesis of osteoporosis. Polymorphism of the vitamin D receptor (VDR) gene has been reported to play a major role in variations for genetic regulation of bone mass. Its role within various ethnic populations is not clear. The purpose of this project was to determine the frequencies of VDR genotypes in Turkey. Three polymorphisms of the VDR gene were analyzed using the polymerase chain reaction-restriction fragment length polymorphism technique. The sample for our study was comprised of postmenopausal women in Turkey, 100 of whom were diagnosed with osteoporosis. They were compared with 146 healthy controls. BsmI genotype frequencies in Turks resemble Caucasians rather than Asians, and Taq genotype frequencies in Turks neither resemble Caucasians nor Asians. The genotype frequencies of VDR were not statistically different between patients with osteoporosis and the control group. Among VDR haplotypes, bbAATT and bbTtAa are more frequent in the osteoporosis group than the control group.