Study On The Association Between Vitamin D Receptor Gene Polymorphism And Vitamin D Deficiency Rickets In Infants

Objective To study the association between vitamin D receptor(VDR) gene polymorphism and vitamin D deficiency rickets in Infants and to explore the genetic susceptibility of its.Methods Case-control study was adapted. Choose confirmed 56 cases of infants with rickets(case group) and 76 cases of normal infants (control group) as the subjects. VDR gene ApaI and BsmI polymorphisms were determined by PCR-RFLP technology. The frequencies of the VDR genotype and allele were compared between the two groups. Frequency of haplotypes and linkage disequilibrium of ApaI and BsmI polymorphism in two groups were analysis by the SHEsis programs.Results Frequencies of AA, Aa and aa genotypes were 14.3%, 46.4% and 39.3% in the rickets group, and 13.3%, 50% and 36.8% in the control group respectively, frequencies of A, a alleles were 37.5%, 62.5% in the rickets group and 38.2%, 61.8% in the control group respectively. Frequencies of BB, Bb and bb genotypes were 3.6%, 21.4% and 75.0% in the rickets group, and 1.3%, 18.4% and 80.3% in the control group respectively, frequencies of B, b alleles were 14.3%, 85.7% in the rickets group and 10.5%, 89.5% in the control group respectively. No significant difference was found in either the frequency distribution of this VDR genotype or this allele (A or a; B or b) between two groups. Two polymorphisms didn't show linkage disequilibrium and D' and r~2 is respectively 0.230, 0.010. The haplotype analysis revealed that there was not different in Frequency of haplotypes between two groups.Conclusion The ApaI and BsmI polymorphism of VDR gene might be not associated with vitamin D deficiency rickets in infants.