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目的研究维生素 D 受体基因起始密码子(VDRSC)多态性在晚发性佝偻病组、维生素 D 缺乏状态组及正常对照组中分布频率的差异,探讨晚发性佝偻病的遗传易感因素。方法用聚合酶链反应——限制性长度多态性(RFLP)分析晚发性佝偻病组30例、维生素 D 缺乏状态组35例以及正常对照组60例 VDRSC 多态性的分布频率。结果三组 VDRSC 基因型分布频率差异有统计学意义(χ~2=13.184,P=0.010);等位基因分布频率差异也有统计学意义(χ~2=8.975,P=0.011)。组间两两比较晚发性佝偻病组 VDRSC 基因型和等位基因与其他两组比较差异有统计学意义,其 FF 型频率(56.7%)明显高于正常对照组(21.7%,P=0.006),也明显高于维生素 D 缺乏状态组(22.9%,P=0.002);晚发性佝偻病组 F 型(70.0%)明显高于正常对照组(48.3%,P=0.006),也明显高于维生素 D 缺乏状态组(47.1%,P=0.009)。多项分类 Logistic 回归分析结果显示,在调整了其他危险因素后,FF 型仍是晚发性佝偻病的危险因素,相对危险度(OR)=3.120。结论 VDRSC 多态性可能决定晚发性佝偻病的遗传易感性。
Objective To investigate the frequency distribution of VDRSC polymorphism in patients with late-onset rickets, vitamin D deficiency and normal controls and to explore the genetic susceptibility to late rickets. Methods The distribution frequencies of VDRSC polymorphisms in 30 patients with late-onset rickets, 35 patients with vitamin D deficiency and 60 normal controls were analyzed by polymerase chain reaction-restriction fragment length polymorphism (RFLP). Results There was significant difference in the distribution frequency of VDRSC among the three groups (χ ~ 2 = 13.184, P = 0.010). There was also a significant difference in allele frequencies (χ ~ 2 = 8.975, P = 0.011). The genotypes and alleles of VDRSC in late onset rickets group were significantly different from each other in the pairwise comparisons of the two groups (P <0.05). The FF type frequency (56.7%) was significantly higher than that in the normal control group (21.7%, P = 0.006) (22.9%, P = 0.002). The incidence of type F in patients with advanced rickets (70.0%) was significantly higher than that of the normal control group (48.3%, P = 0.006) and also significantly higher than that of vitamin D D-deficient group (47.1%, P = 0.009). Logistic regression analysis showed that type FF was still a risk factor for late rickets after adjusting for other risk factors, with relative risk (OR) = 3.120. Conclusion VDRSC polymorphism may determine the genetic susceptibility to late-onset rickets.