The Correlation between Vitamin D Receptor Gene Polymophism and Bone Metabolism Disorder in Children with Nephrotic Syndrome / 昆明医科大学学报

ABSTRACT

Objective To study the correlation between VDR gene polymorphism and the transformation of bone markers in children with nephrotic syndrome and to observe whether active intervention treatment of vitamin D with nephrotic syndrome is influenced by VDR gene polymorphism. Methods We used polymerase chain reaction restriction fragment length polymorphism (PCR- RFLP) technology to detect the VDR genotypes of 70 children with nephrotic syndrome (one group received hormone for 2 weeks and the other received no hormone therapy) . Then we detected bone metabolism index among patients with nephrotic syndrome and 30 normal children (control group) and compared the index between the two groups with and without hormone therapy.We divided 70 children with nephrotic syndrome into the AA+Aa genotype group and the aa genotype group to study the difference between various genotypes of bone metabolism indexes. After retesting bone metabolism index of those children receiving the same dose of calcitriol therapy after 2 weeks, we divided them into three groups AA genotype, Aa genotype and aa genotype to detect the changes of bone metabolism index in different genotypes.Results (1) The calcitonin and serum phosphorus of children with AA+Aa genotype were significantly lower than those of childrenwith aa genotype (P＜ 0.05);25 (OH) D3 of children with aa genotype was significantly lower than that of ones with Aa + Aa genotype (P＜ 0.05) . (2) The changes of bone metabolism index in children with nephrotic syndrome after receiving the same dose of calcitriol for 2 weeks the calcitonin and 25 (OH) D3 in AA+Aa genotype group were significantly higher after treatment (P＜0.05) .Conclusions Vitamin D receptor gene ApaⅠpolymorphism may be a genetic susceptibility factors affecting bone metabolic abnormalities. AA and Aa genotype may be a protective factor of bone metabolic abnormalities.The AA+Aa genetype of Vitamin D receptor gene ApaⅠpolymorphism response to treatment of calcitriol is positive.