摘要
目的 探讨联合检测MTHFR基因多态性、血清同型半胱氨酸(Hcy)水平在下肢髂股动脉硬化闭塞症的应用价值.方法 选择下肢髂股动脉硬化闭塞症患者92 例为病例组和同期住院患者80 例为对照组,收集年龄、性别和体重指数等临床资料,统计血清总胆固醇、糖化血红蛋白、低密度脂蛋白、D-二聚体、纤维蛋白原及血清Hcy等数据,并应用焦磷酸测序技术进行MTHFR C677T基因多态性的分析.比较两组MTHFR C677T基因多态性和血清Hcy水平的差异及联系.结果 病例组纤维蛋白原、D-二聚体、肌酐、糖化血红蛋白和Hcy均明显高于对照组,差异均有统计学意义(Z分别=3.70、4.99、4.90、2.80、2.76,P均<0.05).病例组中MTHFR C677T基因多态性CC型的分布频率低于对照组(χ2=4.07,P<0.05),而TT型高于对照组(χ2=3.85,P<0.05),两组CT型分布频率比较,差异无统计学意义(χ2=0.81,P>0.05).病例组等位基因的分布频率与对照组比较,差异有统计学意义(χ2=2.37,P<0.05).病例组TT基因型血清Hcy均明显高于本组CC、CT基因型,且明显高于对照组,差异均有统计学意义(Z分别=2.50、2.10、2.11,P均<0.05).结论 MTHFR C677T基因多态性中TT基因型及血清高Hcy水平是下肢髂股动脉硬化闭塞症形成的重要危险因素.联合检测可以提高早期下肢髂股动脉硬化闭塞症的诊断阳性率并早期预防.
Abstract
Objective To explore the application value of combined detection of MTHFR gene(5,10-methylenetetra-hydrofolate reductase)polymorphism and serum homocysteine levels in lower limb iliac and femoral artery atherosclerosis obliterans.Methods Totally 92 patients with lower limb iliac femoral artery sclerosis obliterans(case group)and 80 patients at the same period(control group)were selected to collect clinical data such as age,gender,and body mass in-dex.Biochemical indicators such as glycated hemoglobin,serum total cholesterol,low-density lipoprotein,fibrinogen,D-di-mer,and serum homocysteine were measured,and the MTHFR C677T gene polymorphism was analyzed using pyrophos-phate sequencing technology.The differences and relationships between the MTHFR C677T gene polymorphism and se-rum homocysteine levels between two groups were compared.Results The fibrinogen,D-dimer,creatinine,glycated he-moglobin,and homocysteine levels in the case group were significantly higher than those in the control group,and the dif-ferences were statistically significant(Z=3.70,4.99,4.90,2.80,2.76,P<0.05).The distribution frequency of MTHFR C677T gene polymorphism CC type in the case group was lower than that in the control group(χ2=4.07,P<0.05),while TT type frequency was higher than that in the con-trol group(χ2=3.85,P<0.05).There was no statisti-cally significant difference in the distribution fre-quency of CT type between the two groups(χ2=0.81,P>0.05).The distribution frequency of the allele be-tween two groups was significantly different(χ2=2.37,P<0.05).The serum homocysteine level of the TT genotype in the case group was significantly higher than that of the CC and CT genotypes in the control group,and the differences were statistically significant(Z=2.50,2.10,2.11,P<0.05).Conclusion The TT genotype in MTHFR C677T gene polymorphism and high serum Hcy levels are important risk factors for the formation of lower limb iliac and femoral artery sclerosis obliterans.Combining detecting can improve the diagnostic positive rate and early prevention of lower limb iliac and femoral artery sclerosis obliterans.