DNA测序研究维生素D受体基因多态性与儿童克罗恩病相关性

目的：初步探讨维生素D受体基因多态性TaqI、BsmI、ApaI位点在儿童克罗恩病（CD）发病中的作用。方法：选取19例CD患儿为病例组，122例正常健康体检儿童为对照组。ELISA方法检测血清25羟维生素D3 25(OH)D3]水平；基因测序方法检测两组维生素D受体基因多态性TaqI、BsmI、ApaI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(OH)D3水平（17.3±2.4 ng/mL）较对照组（26.9±2.1 ng/mL）明显降低，差异有统计学意义（P0.05）。结论：CD患儿存在低25(OH)D3水平；维生素D受体基因多态性TaqI、BsmI、ApaI位点与CD的发生无关。

Association between vitamin D receptor gene polymorphisms and pediatric Crohn's disease in China: a study based on gene sequencing

OBJECTIVE: To investigate the association between TaqI, BsmI, and ApaI polymorphisms of vitamin D receptor (VDR) gene and pediatric Crohn''s disease (CD) in China. METHODS: Nineteen children with CD were selected as a case group, and 122 healthy children who underwent physical examination were selected as a control group. Serum 25-hydroxyvitamin D3 25(OH)D3] levels were measured using ELISA. The TaqI, BsmI, and ApaI polymorphisms of VDR gene were determined by gene sequencing, and the two groups were compared in terms of genotype and allele frequencies. RESULTS: The case group had significantly lower serum 25(OH)D3 levels than the control group (17.3±2.4 ng/mL vs 26.9±2.1 ng/mL; P<0.05). There were no significant differences in the frequencies of genotypes and alleles of TaqI, BsmI, and ApaI polymorphisms between the case and control groups (P>0.05). CONCLUSIONS: Children with CD have low serum 25(OH)D3 levels. TaqI, BsmI, and ApaI polymorphisms of VDR gene may not be associated with susceptibility to CD among the Chinese population.