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

Abstract

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.

Polimorfismo de metilenotetrahidrofolato reductasa en pacientes jóvenes con ataque cerebrovascular e infección por virus de inmunodeficiencia humana

“…Los niveles circulatorios elevados de homocisteína han sido reconocidos como un factor de riesgo independiente para enfermedad cardiovascular y particularmente se relaciona con la extensión de la isquemia en ACV (2), donde los mecanismos fisiopatológicos incluyen alteraciones en el endotelio, estrés oxidativo y la inflamación con activación de la coagulación (20). Además, induce la hipometilación del ácido desoxirribonucleico y empeora la apoptosis, promoviendo la susceptibilidad al daño neuronal (9,(21)(22).…”

Associations of MTHFR gene polymorphism with lipid metabolism and risk of cerebral infarction in the Northwest Han Chinese population

“…Age Numerous studies have shown that various environmental variables and genetic variations contribute to the etiology of CI (19). Previously published studies have demonstrated associations between MTHFR polymorphisms and CI, although the results have been mixed (20,21).…”

Association of methylenetetrahydrofolate reductase (MTHFR) rs1801133 (677C>T) gene polymorphism with ischemic stroke risk in different populations: An updated meta-analysis

“…Many researchers have examined the relationship between MTHFR rs1801133 (677C>T) polymorphism and IS risk. However, there have been no definitive conclusions because different populations were examined and inconsistent results were obtained ( Herak et al, 2017 ; Jiménez-González et al, 2021 ; Huang et al, 2022 ). Two meta-analyses were performed separately in 2016 and 2019 that reported a correlation between MTHFR rs1801133 (677C>T) polymorphism and IS ( Song et al, 2016 ; Chang et al, 2019 ).…”