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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。
Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of FokI and BsmI and the genetic susceptibility to vitamin D deficiency rickets in infants and young children in Suzhou district. Methods A case-control study was conducted. Totally 62 children with rickets and 73 healthy infants were enrolled in this study. Polymorphisms of vitamin D receptor (VDR) gene FokI and BsmI loci were detected by polymerase chain reaction and gene sequencing. Sex was tested and the genotype and allele distribution frequency was compared between the two groups. Results There were significant differences in the distribution of different genotypes of FokI locus in infants and young children in Suzhou between cases and controls (P = 0.009). The risk of rickets in TT genotype was higher (OR = 4.323, 95% CI: 1.088-17.17, P = 0.038). The levels of 25 vitamin D and BMD were lower in individuals with TT genotype than those with CT and CC genotypes (P <0.05). The BsmI in both cases and controls There was no significant difference in distribution (P> 0.05). Conclusion The Fokl gene polymorphism of vitamin D receptor (VDR) gene in infants and young children in Suzhou is related to the susceptibility to rickets. TT genotype may be the genetic risk factor for rickets.