关键词: 佝偻病, 维生素D受体基因, FokI, BsmI

Abstract: Objective To investigate the association between two single nucleotide polymorphisms(SNP) of BsmI,FokI loci in vitamin D receptor gene(VDR) with the genetic susceptibility of rickets among infants in Suzhou. Methods A case-control study was performed in 62 infants with rickets and 73 healthy infants in Suzhou.The genotypes of two SNPs in VDR gene,BsmI,FokI loci were identified using polymerase chain reaction (PCR) and DNA sequencing.The frequencies of genotypes and alleles of VDR gene were compared between the two groups. Results There were significant differences in genotype frequencies of FokI between the case and control groups (P=0.009).And compared with its wild-type counterpart,a significant increased rickets risk associated with TT genotype (OR=4.323,95%CI:1.088~17.17,P=0.038).Besides,the levels of 25-(OH)D and bone mineral density in the infants.The TT genotype were significantly lower than those with CT or CC genotype(P<0.05).In terms of BsmI,the frequencies of the genotypes and alleles showed no significant differences between the two groups(P>0.05). Conclusion The polymorphisms of FokI in VDR gene may be associated with increased rickets risk among the infants in Suzhou,and TT genotype may be a genetic risk factor for the development of rickets.

Key words: rickets, vitamin D receptor, FokI, BsmI