Vitamin D receptor gene polymorphisms and peak bone mass in southern Chinese women

Controversial results were reported on the association of vitamin D receptor (VDR) polymorphisms and bone mineral density (BMD). We studied allelic frequencies of the BsmI, ApaI, and TaqI restriction fragment length polymorphisms (RFLPs) in 144 normal healthy southern Chinese premenopausal women aged between 30 and 40 years, and correlated their peak bone mass with the VDR genotypes. In comparison to Western populations, the B allele of the BsmI site is only found in 5% of the Chinese population. The BBAAtt genotype is virtually nonexistent in Chinese people. Except for the slightly higher BMD values at the midlateral L-3 vertebra (13.8%, p = 0.045) and at the Ward's triangle (13.3%, p = 0.08) in the bb subjects, no difference could be detected at other sites between the Bb and bb subjects. The same findings were observed when comparing the Tt to tt subjects. Analysis of the VDR genotype revealed that subjects with BbAaTt and BbAATt haplotypes had the lowest peak bone mass. Their L2-4 lumbar spine, midlateral L-3 vertebra, and Ward's triangle BMD was 1.04, 0.90, and 0.75 standard deviation (SD), respectively, lower than the bbAATT counterparts, but none of the comparisons were statistically significant. However, with the low frequency of the B allele, our study had limited power to detect a small difference in the BMD of the various genotypes. In conclusion, although VDR polymorphism is believed to affect calcium absorption, this study failed to confirm a strong relationship between the VDR genotype and peak bone mass in our population with low dietary calcium intake.