Polymorphisms Of Vitamin D Receptor Gene And Its Association With Vitamin D Deficiency Rickets

Objective To investigate the frequency distribution of vitamin Dreceptor(VDR) genotype among the Hans in Taiyuan, Shanxi, and evaluate thecorrelation between VDR gene polymorphisms and vitamin D deficiencyrickets.Methods (1) Serum contents of Bone specific alkaline phosphatase (BALP)and 25(OH)D3 were detected by immunoassay and radioimmunoassayrespectively. According to the assay result above, we divided our subjects intotwo groups: the rickets group composed of 41 children with active Vitamin Ddeficiency rickets; the control group composed of 68 normal children. (2) VDRgene BsmI-polymorphism and ApaI-polymorphism were tested for every subject.Polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) and genetic analysis methods were used.Results The frequencies of Bb, bb, AA, Aa and aa genotypes were 14.6%,85.4%, 5.0%,52.5% and 42.5% in the rickets group, and 19.1%,80.9%,4.4%,55.9%,39.7% in the control group. There was no significant difference in thedistribution of genotype of VDR gene BsmI and ApaI polymorphism betweentwo groups.Conclusion (1) The distribution of BsmI polymorphism of the VDR gene inchildren of Hans in Taiyuan is unbalanced, and the bb genotype accounted for80.9%. The frequency of b allele is 90.4%. Compared with BsmI polymorphism,the distribution of ApaI polymorphism of the VDR gene is balanced, and thefrequency of A allele is 67.7%. (2) Our study showed that the genotype andallele frequencies of VDR in Chinese differed significantly from those inCaucasians, and VDR genotype was different in various ethnics. (3) Thecorrelation between VDR BsmI, ApaI polymorphism and vitamin D deficiency IIrickets was not found in this study. Further study on predicting function of VDRfor vitamin D deficiency rickets is necessary.