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

摘要： 目的 探讨苏州地区婴幼儿维生素D受体(VDR)基因FokI、BsmI位点单核苷酸多态性与维生素D缺乏性佝偻病遗传易感性的关系。方法 采用病例-对照的研究方法,选取苏州地区佝偻病患儿62名和健康婴幼儿73名,应用PCR聚合酶链反应和基因测序法对维生素D受体(VDR)基因FokI、BsmI位点基因多态性进行检测,并对两组之间基因型和等位基因分布频率进行比较。结果 苏州地区婴幼儿VDR基因FokI位点不同基因型在病例组和对照组中的分布差异有统计学意义(P=0.009),其中TT基因型个体佝偻病发生的危险度升高(OR=4.323,95%CI:1.088~17.17,P=0.038);TT基因型个体25羟维生素D水平和骨密度分别低于携带CT和CC基因型个体(P<0.05);BsmI在病例组和对照组中的分布差异无统计学意义(P>0.05)。结论 苏州地区婴幼儿维生素D受体(VDR)基因FokI位点基因多态性与佝偻病的易感性相关,TT基因型可能是佝偻病发生的遗传学危险因素。

关键词: 佝偻病, 维生素D受体基因, FokI, BsmI