【摘要】 目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因多态性及其酶代谢物与老年性白内障的相关性。方法选取2019年1月至2020年6月绵阳市中心医院就诊的老年性白内障患者663例为疾病组,同期体检健康者646例为健康人对照组;分别检测各组MTHFR基因多态性（CC、CT或TT基因型）以及血清同型半胱氨酸（HCY）、叶酸（FOL）、维生素B₁₂(VitB₁₂)和维生素B₆（VitB₆）水平。采用多元Logistic回归分析各指标与老年性白内障的相关性。结果疾病组MTHFR C677T突变率（χ²=24.910,P<0.001）和HCY水平（Z=17.104,P <0.001）显著高于健康人对照组,而FOL （Z=-11.695,P <0.001）、VitB₁₂（Z=-10.903,P<0.001）和VitB₆（Z=-7.646,P<0.001）显著低于健康人对照组。随着MTHFR C677T突变数增加（即CC→CT→TT）,在疾病组和健康人对照组中HCY呈上升趋势（Z分别为7.653和8.266,P均<0.001）,而FOL （Z分别为-5.212和-10.634,P均<0.001）和VitB₁₂（Z分别为-2.226和-3.069,P均<0.001）均呈下降趋势。经多元Logistic回归分析,HCY（OR分别为1.24和1.18,P均<0.001）和FOL（OR分别为0.95和0.91,P均<0.001）与老年性白内障及MTHFR基因突变均有关;而VitB₁₂仅与老年性白内障有关联（OR=0.86,P=0.001）;与CC型相比,受试者CT型（OR=1.62,P<0.01）和TT型（OR=1.76,P<0.01）患老年性白内障风险增加。结论监测MTHFR基因多态性以及血清HCY、FOL和VitB₁₂水平的变化对预测老年性白内障具有参考价值。更多还原

【Abstract】 Objective To investigate the correlations of methylenetetrahydrofolate reductase（ MTHFR） gene polymorphism and its enzyme metabolites with senile cataract. Methods A total of 663 patients with senile cataract in Mianyang Central Hospital from January 2019 to June 2020 were collected as the study group,and 646 healthy subjects were randomly selected as the control group in the same period. MTHFR gene polymorphism i.e.,CC,CT or TT genotypes and the levels of serum homocysteine（ HCY）,folic acid（ FOL）,vitamin B₁₂( VitB₁₂) and vitamin B₆（ VitB₆） were detected respectively. Multiple Logistic regression was used to analyze the correlation between each parameters and senile cataract. Results The mutation rate of MTHFR C677T（ χ²= 24.910,P<0.001） and HCY levels（ Z = 17. 104,P < 0. 001） in the study group were significantly higher than those in control group,while the levels of FOL（ Z =-11.695,P<0.001）,VitB₁₂（ Z=-10.903,P<0.001） and VitB₆（ Z=-7.646,P<0.001） were significantly lower. With the increase of MTHFR C677T mutation i.e.,CC→CT→TT,HCY level showed an upward trend（ Z = 7.653 and 8.266,both P< 0.001） while FOL level（ Z =-5.212 and-10.634,both P<0.001） and VitB₁₂（ Z=-2.226 and-3.069,both P<0.001） showed a decreased trend in both of study group and control group. Multiple Logistic regression analysis showed that the levels of HCY（ OR = 1.24 and 1.18,both P <0.001） and FOL（ OR = 0.95 and 0.91,both P<0.001） were associated with senile cataract and MTHFR mutations. VitB₁₂ was only associated with senile cataract（ OR = 0.86,P = 0.001）. Compared with CC genotype,in the patients with CT（ OR = 1.62,P<0.01） and TT（ OR = 1.76,P<0.01） genotype the risk of senile cataract increased. Conclusion Monitoring MTHFR gene polymorphism and the changes of serum HCY,FOL and VitB₁₂ levels may be of reference value in predicting senile cataract.更多还原