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目的探讨维生素D受体(VDR)基因ApaI多态性与糖耐量减低(IGT)及25羟基维生素D3(25-OH-VD3)的相关性。方法采用聚合酶链反应限制性片段长度多态性(PCR-RLFP)技术,检测105例IGT(IGT组)和105例健康者(NC组)VDR ApaI基因型,酶联免疫吸附(ELISA)法测血清25-OH-VD3水平,并检测相关临床及生化指标,比较VDR ApaI基因型和等位基因频率分布差异及不同基因型血清25-OH-VD3等相关指标的差异。结果①血清25-OH-VD3水平IGT组较NC组低(22.04±2.37 vs 32.04±2.64),P<0.05。血清25-OH-VD3水平<30 ng/mL占63.8%。②VDR基因ApaI位点基因型和等位基因频率在两组中的分布差异明显(P<0.05),IGT组等位基因a和基因型aa分布频率明显高于NC组。③基因型AA、Aa的25-OH-VD3高于aa(P<0.05)。血清低密度脂蛋白胆固醇(LDL-C)、体质量指数(BMI)、年龄、VDR基因ApaI与IGT发病呈正相关(OR分别为1.832、1.916、1.466、1.812,P<0.05),而与血清25-OH-VD3水平呈负相关(OR=-0.461)。结论维生素D不足较为普遍;VDR基因ApaI等位基因a和基因型aa可能为易发生IGT的危险性遗传标志;血清25-OH-VD3可能与VDR基因ApaI多态性相关。
Objective To investigate the association of ApaI polymorphism of vitamin D receptor (VDR) gene with impaired glucose tolerance (IGT) and 25-hydroxyvitamin D3 (25-OH-VD3). Methods The genotypes of VDR ApaI in 105 patients with IGT (IGT group) and 105 healthy subjects (NC group) were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The enzyme linked immunosorbent assay (ELISA) Serum levels of 25-OH-VD3 were measured, and the related clinical and biochemical indexes were detected. The differences of the frequency distribution of ApaI genotype and allele between VDR and the serum 25-OH-VD3 of different genotypes were compared. Results Serum level of 25-OH-VD3 in IGT group was lower than that in NC group (22.04 ± 2.37 vs 32.04 ± 2.64), P <0.05. Serum 25-OH-VD3 levels <30 ng / mL accounted for 63.8%. ② There was significant difference in genotype and allele frequencies of ApaI locus in the VDR gene between the two groups (P <0.05). The frequencies of allele a and genotype aa in IGT group were significantly higher than those in NC group. ③ 25-OH-VD3 of genotypes AA and Aa was higher than that of aa (P <0.05). Serum LDL-C, BMI, age, and VDR gene ApaI were positively correlated with the incidence of IGT (OR 1.832,1.916,1.466,1.812, P <0.05), but not with serum 25 -OH-VD3 level was negatively correlated (OR = -0.461). Conclusions Vitamin A deficiency is more common. ApaI allele a and genotype aa of VDR gene may be risk genetic markers of IGT. Serum 25-OH-VD3 may be associated with ApaI polymorphism of VDR gene.