Vitamin D receptor gene polymorphism and bone mineral density in 0–6-year-old Han children

This study aims to investigate the four vitamin D receptor (VDR) gene single nucleotide polymorphisms and their possible relationship with bone mineral density (BMD) in Chinese 0–6-year-old Han children. Two hundred four 0–6-year-old Han children without metabolic bone disease were randomly recruited in Shanghai, China. The BMD of the middle tibia was measured by an ultrasonic bone density instrument. VDR genotypes were determined by polymerase chain reaction restriction fragment length polymorphism using endonuclease ApaI, BsmI, TaqI and FokI. The alleles of a, T, b and F and the genotypes of aa, TT, bb and Ff were predominant. The frequency alleles of a, T, b and F were, respectively, 70.6, 95.8, 95.3 and 57.6%. When the influences of confounders such as serum 25(OH)D, serum zinc and outdoor activities on BMD were removed, the genotypes of BsmI and FokI were found apparently to be related to BMD. The BMD of the Bb carrier was much lower than that of the bb carrier (22.00 ± 27.84 and 43.14 ± 31.98, P < 0.05). The BMD of the ff carrier was lower than that of the Ff or FF carrier (26.97 ± 34.22 and 37.95 ± 29.70 and 53.52 ± 30.35, P < 0.001), while the genotypes of ApaI and TaqI have no relation with BMD in 0–6-year-old Han children. These findings show that the Bb and ff genotypes of the VDR BsmI and FokI variants are significantly associated with a decreased BMD in Chinese Han children aged 0–6 years, while the VDR ApaI and TaqI polymorphisms are not significantly associated with it.