MTHFR C677T基因多态性与慢性肺源性心脏病易感性研究

摘要

目的：探讨血浆同型半胱氨酸（Hcy）代谢酶N5,10-亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与慢性肺源性心脏病（CPHD）的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）的分析方法，检测慢性肺源性心脏病患者（病例组）120例和对照组120例的MTHFR C677T基因多态性，并进行基因分型；同时用全自动生化分析仪检测Hcy水平及其他相关生化指标。结果 Hcy水平在病例组和对照组差异有统计学意义（P＜0.05）。病例组和对照组中 CC、CT、TT 3种基因型的频率分别为24.17%、43.33%、32.50%和35.00%、47.50%、17.50%；病例组中C和T等位基因为45.83%和54.17%，对照组中为58.75%和41.25%。3种基因型总体频率分布差异有统计学意义（χ2=8.010，P＜0.05）；病例组T等位基因频率显著高于对照组，差异有统计学意义（χ2=8.025，P＜0.05）。结论 Hcy升高及其代谢酶MTHFR C677T基因多态性可能与肺心病的发生发展相关。%Objective To investigate the relationship between gene polymorphisms of homocysteine (Hcy), metabolic enzymes methylenetetrahydrofolate reductase MTHFR C677T and chronic pulmonary heart disease (CPHD). Methods The gene polymorphisms of MTHFR C677T were determined by the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)in CPHD patients (n=120) and healthy control (HC, n=120), and genotyping was carried on. The automatic biochemistry analyzer was used to detect the level of Hcy and other related biochemical indicators. Results There was significant difference in Hcy level between the CPHD group and HC group (P<0.05). The mutation frequencies of CC, CT and TT were 24.17%, 43.33%and 32.50%, 35.00%, 47.50%and 17.50%in the CPHD group and HC group. The mutation frequencies of allele C/T were 45.83%and 54.17%in HC group, and 58.75%and 41.25%in control group. There was significant difference in the overall frequency distribution between the three genotypes (χ2 =8.010, P<0.05). The frequency of T allele was significantly higher in CPHD group than that in control group (χ2=8.025,P<0.05). Conclusion The increased Hcy and its metabolic enzyme MTHFR C677T may be involved in the occurrence and development of CPHD.