【摘要】目的分析维生素D 受体TaqI 基因多态性与慢性肾脏病透析患者预后的相关性，以期能否根据基因多态性评估患者预后。方法采取病例对照研究方式，选择2015 年4 月～2016 年4 月就诊于成都市第一人民医院的75 例慢性肾脏病透析患者作为观察组，另选择同期于成都市第一人民医院健康体检者70 例作为对照组。使用PCR 扩增产物酶切后琼脂糖凝胶电泳检测并对比2 组入选者维生素D 受体TaqI 位点的单核苷酸多态性，随访，统计观察组治疗1 年后的存活率，并对比不同位点基因型患者临床特征、存活率及中位生存时间的差异。结果分析维生素D 受体TaqI 基因多态性结果发现，观察组中TT34 例，Tt23 例，tt18 例；观察组维生素D 受体TaqI 位点基因型tt 型发生率比对照组低(χ2=9.504，P=0.002)；2 组TT 型、Tt 型发生率相比，差异无统计学意义(χ2=2.362、2.838，P=0.124、0.092)；观察组总突变率(76.00%)比对照组(51.43%)高，差异有统计学意义(χ2=9.504，P=0.002)；TT 型、Tt 型、tt 型的性别、年龄、原发病、低密度脂蛋白、高密度脂蛋白、三酰甘油、尿素氮、血肌酐、血钙、血磷及1,25(OH)2D3等
各指标相比，差异无统计学意义(χ2=0.308, P=0.857；F=0.272、P=0.762；χ2=3.682, P=0.720；F=0.027, P=0.973；F= 0.136, P=0.824；F=0.053, P=0.948；F=0.157, P=0.855；F=0.020, P=0.980；F=0.020, P=0.971；F=0.177, P=0.838；F=0.297, P=0.744)；治疗后随访1 年，75 例患者中存活56 例，存活率为74.67%。tt 型治疗1 年后的存活率、中位生存时间＞Tt 型＞TT 型，差异有统计学意义(χ2=6.871，P=0.032；F=78.697，P＜0.001)。结论维生素D 受体TaqI 基因多态性在慢性肾脏病透析患者中分布频率存在差异，且与患者生存率及生存时间密切相关，其中发生突变患者的生存时间较短，可指导预后的判断。

【Abstract】Objective To analyze the correlation between the TaqI polymorphism in vitamin D receptor gene and the prognosis of chronic kidney disease (CKD) patients on dialysis, in order to evaluate the gene polymorphism relating to the prognosis of the patients. Methods This was a casEcontrol study. Seventy-five CKD patients on dialysis admitted to Chengdu First People's Hospital from April 2015 to April 2016 were recruited as the observation group, and 70 healthy patients undergoing physical examination in Chengdu First People's Hospital were selected as the control group. PCR products were digested with the restriction enzyme and then separated in agarose gels to identify the TaqI polymorphism. Genotype of the TaqI polymorphism in
vitamin D receptor gene, results of follow-up study and survival rate after one year were compared between the two groups. Clinical characteristics, survival rate and median survival time were also compared in patients with different genotypes of the polymorphism. Results In observation group, the genotype frequency of TaqI polymorphism in vitamin D receptor gene was TT genotype 34 cases, Tt genotype 23 cases, and tt genotype 18 cases, demonstrating that the frequency of tt genotype was lower in observation group than in control group (χ2=9.504, P=0.002) and the frequencies of TT genotype and Tt genotype were similar between the two groups (χ2=2.362 and 2.838 respectively, P=0.124 and 0.092 respectively). The total mutation rate was 76.00% in observation group, higher than that in control group (51.43%; χ2=29.504,P=0.002). There were no significant differences in sex, age, primary disease, low density lipoprotein,high density lipoprotein, triglyceride, urea nitrogen, serum creatinince, calcium, pbosphorus and 1,25 (OH)2D3 among the patients with TT genotype, Tt genotype and tt genotype (χ2= 0.308, P=0.857; F=0.272, P=0.762; χ2=3.682, P=0.720; F=0.027,P=0.973; F=0.136, P=0.824; F=0.053, P=0.948; F= 0.157, P=0.855; F=0.020, P=0.980; F=0.020, P=0.971; F=0.177, P=0.838; F=0.297, P=0.744). The results of follow-up study for one year showed that 56 of the 75 patients(74.67%) survived. The onEyear survival rate was 74.6% (56/75 survived). The onEyear survival rate and median survival time were statistically higher in patients with tt genotype than in those with Tt genotype and TT genotype(χ2=6.871, P=0.032; F=78.697, P＜0.001). Conclusion The genotype frequency of TaqI polymorphism in vitamin D receptor gene was different between CKD patients on dialysis and healthy people, and was closely related to the survival rate and survival time of the patients. The survival time was shorter in patients with mutation, which can be used for the prognostic prediction.