Association of the methylenetetrahydrofolate reductase (MTHFR) gene variant C677T with serum homocysteine levels and the severity of ischaemic stroke: a case–control study in the southwest of China

• Published in: Journal of international medical research Vol. 50; no. 2; p. 3000605221081632
• Main Authors: Huang, Lu-Wen, Li, Lin-Lin, Li, Juan, Chen, Xiao-Rong, Yu, Ming
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01.02.2022; Sage Publications Ltd; SAGE Publishing
• Subjects: Brain Ischemia - genetics; Case-Control Studies; Genetic Predisposition to Disease; Genotype; Homocysteine; Humans; Ischemia; Ischemic Stroke; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Polymorphism; Retrospective Clinical Research Report; Risk Factors; Stroke; homocysteine; case–control study; C677T mutation; MTHFR gene polymorphisms; Ischaemic stroke
• ISSN: 0300-0605; 1473-2300; 1473-2300
• DOI: 10.1177/03000605221081632

Objective To determine whether the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism is linked to the risk of ischaemic stroke and circulating homocysteine (Hcy) levels in a Chinese population. Methods This case–control study recruited angiogram-diagnosed patients with ischaemic stroke and healthy control subjects. The plasma Hcy concentrations were measured and the MTHFR C677T gene polymorphism was genotyped. The National Institutes of Health Stroke Scale (NIHSS) was used to assess the severity of the ischaemic stroke. Results This study recruited 198 patients with ischaemic stroke and 168 controls. The TT genotype conferred a higher risk for ischaemic stroke than the CC genotype (odds ratio of 3.563; 95% confidence interval [CI] 1.412, 4.350). The T allele was the predisposing allele for ischaemic stroke. Hcy had an area under the receiver operating characteristic (ROC) curve of 0.624 (95% CI 0.530, 0.758). The ROC for Hcy demonstrated its usefulness in predicting ischaemic stroke. Hcy levels were not associated with ischaemic stroke severity as measured by the NIHSS. Conclusion The MTHFR C677T gene polymorphism affects circulating Hcy levels. The MTHFR C677T gene polymorphism and hyperhomocysteinaemia may play important roles in predicting the risk of ischaemic stroke.