Objective: Polymorphism in 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 study was to determine the frequencies of VDR genotypes in the Han and Uygur nationalities in China.
Methods: We analyzed the polymorphism of Bsm I restriction enzyme by PCR-RFLP technique in 162 healthy postmenopausal women of the Han nationality and 50 healthy postmenopausal women of the Uygur nationality in China. The genotype frequencies of VDR were calculated using Hardy-Weinberg equilibrium formula.
Results: In the Han nationality, the bb, Bb, and BB genotype accounted for 91.36%, 8.64% and 0%, respectively. In the Uygur nationality, frequencies were 74.00%, 18.00% and 8.00%, respectively.
Conclusion: There was a significant difference between the Han and Uygur nationalities in the frequency distribution of VDR genotype (P < 0.01). Compared with the Caucasian population in the United States, Australia and France, there was a similar value to Uygur nationality in the BB genotype. This investigation gave us further evidence on the different etiopathology of osteoporosis in various ethnic groups.