Relationship between MTHFR C677T gene polymorphism and homocysteine and coronary heart disease
ZHAO Chang1 HE Xin2▲
1. The Third Department of Cardiology, Fuxin Central Hospital, Liaoning Province, Fuxin 123000, China;
2. The Third Department of Cardiology, the First Affiliated Hospital of Jinzhou Medical University, Liaoning Province, Jinzhou 121000, China
Abstract：Objective To investigate the relationship between C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) and the level of plasma homocysteine (Hcy) as well as coronary heart disease (CHD). Methods From December 2016 to October 2019, 153 patients with CHD from Fuxin Fifth People′s Hospital and the First Affiliated Hospital of Jinzhou Medical University were selected as CHD group, and 149 subjects for healthy examination were selected as the control group at the same period. The clinical data of biochemical indexes such as blood lipid and Hcy were collected. The plasma Hcy level was measured by enzyme circulation method. The blood samples were taken to extract genomic DNA, and the C677T polymorphism of MTHFR gene was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The Hcy level was the lowest in CC genotype and the highest in TT genotype in CHD group (P＜0.05). In the control group, the Hcy level in different genotypes showed no significant difference (P＞0.05). The proportions of CC genotype and C allele frequency in the CHD group were lower than those in the control group, and the differences were statistically significant (P＜0.05). The proportions of TT genotype and T allele frequency in the CHD group were higher than those in the control group, and the differences were statistically significant (P＜0.05). TT genotype was an independent risk factor for CHD (OR=4.388, 95%CI: 2.091-5.695, P=0.001), and CC genotype was an independent protective factor for CHD (OR=0.590, 95%CI: 0.393-0.921, P=0.001). Conclusion TT genotype in MTHFR C677T polymorphism is a risk factor for CHD. The plasma Hcy level is closely related to it, the increase of plasma Hcy level is related to TT genotype mutation and T allele. Hcy level in plasma and MTHFR C677T polymorphism may be an important reference indexes to study the etiology, pathogenesis and genetic mechanism of CHD.
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