Study on the association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets in infants / 中国综合临床

ABSTRACT

Objective To study the association of vitamin D receptor(VDR) gene BsmI polymorphism and the genetic susceptibility of vitamin D deficiency rickets in infants and to explore a new way of diagnosis and treat-ment. Methods Case-control study was adopted. 56 infants confirmed with rickets (case group) and 76 cases of normal infants (control group) were chosen as the subjects. PCR-RFLP was applied to examine VDR gene BsmI site polymorphism. The frequencies of the VDR genotype and allele were compared between the two groups. Results Frequencies of BB,Bb and bb genotypes were 3.6% (2/56),21.4% (12/56) and 75.0% (42/56) in the rickets group,and 1.3% (1/76),18.4% (14/76) and 80.3% (61/76) in the control group respectively(χ20.521,P> 0.05),frequencies of B,b alleles were 14.3% (16/112),85.7% (96/112) in the rickets group and 10.5% (16/152),89.5% (134/152) in the control group respectively(χ20.783,P>0.05). Multiple logistic regression analysis showed that VDR gene polymorphism Bsml had not higher risk of vitamin D deficiency rickets in Infants. Conclusion VDR gene polymorphism BsmI doesn't appear to pose risk on infants in developing vitamin D deficien-cy rickets.