目的：研究1~3岁佝偻病患儿中维生素D受体基因多态性FokⅠ位点与佝偻病相关性，初步探讨维生素D受体基因多态性FokⅠ位点在佝偻病发病中的作用。方法：病例组（佝偻病患儿）62例与对照组（正常健康儿童）60例，用ELISA方法检测血清25-羟维生素D3水平，比较两组之间血清25-羟维生素D3水平。用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测病例组和对照组维生素D受体基因多态性FokⅠ位点，比较两组之间基因型和等位基因分布频率。结果病例组血清25-羟维生素D3水平较对照组明显降低，差异有统计学意义（9.1±4.1 ng/mL vs 16.1±6.9 ng/mL;P＜0.05）。维生素D受体基因多态性FokⅠ位点病例组FF基因型明显高于对照组（53% vs 25%），基因型分布频率差异有统计学意义（χ2=10.221，P＜0.05），病例组F等位基因频率明显高于对照组（73% vs 57%），等位基因分布频率差异有统计学意义（χ2=7.511，P＜0.05）。结论维生素D受体基因多态性FokⅠ位点与佝偻病有相关性，提示其在佝偻病遗传易感性方面起重要作用。［中国当代儿科杂志，2010，12（7）：544-546］

OBJECTIVE: To study the correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets in children between 1 to 3 years old, and to explore the significance of hereditary factors in the development of vitamin D deficiency rickets. METHODS: Sixty-two children with vitamin D deficiency rickets and 60 healthy children as a control group were enrolled. Serum levels of 25-hydroxyvitamin D3 were measured using ELISA. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genetic analysis method was used. A restriction fragment length polymorphism in the vitamin D receptor genetic polymorphism Fok I was tested. The frequencies of the vitamin D receptor genotype and allele were compared between the two groups. RESULTS: Serum 25-hydroxyvitamin D3 levels in the rickets group were significantly lower than those in the control group ( 9.1±4.1 ng/mL vs 16.1±6.9 ng/mL; P<0.05 ). FF genotype in the vitamin D receptor genetic polymorphism Fok I was more common in the rickets group than in the control group (53% vs 25%; P<0.05). F allele frequency in the rickets group was significantly higher than that in the control group (73% vs 57%; P<0.05). CONCLUSIONS: There is a correlation between vitamin D receptor genetic polymorphism Fok I and vitamin D deficiency rickets. This suggests that vitamin D receptor genetic polymorphism might play an important role in determining susceptibility to development of vitamin D deficiency rickets.［Chin J Contemp Pediatr, 2010, 12 (7):544-546］