Evaluation of Hyperhomocysteinemia and MTHFR C677T gene polymorphism as independent risk factors of ischemic stroke among Bangladeshis

Abstract

Stroke remains a leading cause of death and disability worldwide. This study investigated the relationship between hyperhomocysteinemia (HHcy) and MTHFR C677T gene polymorphism as independent risk factors of Ischemic stroke (IS) in Bangladesh. Blood samples and clinical data were collected from 30 IS patients (>18 years old) and 30 healthy controls. Levels of plasma homocysteine and other biochemical parameters were measured using an automated analyzer, and their relationship with HHcy was determined. DNA was extracted from blood using QIAamp DNA blood kits, and the MTHFR C677T gene polymorphism was genotyped using PCR-RFLP. The prevalence of HHcy was higher in IS patients (30%) than in healthy controls (6.67%), and the difference was statistically significant (p-value = 0.02095). The associations between HHcy and IS traditional risk factors were not statistically significant, suggesting that HHcy could influence IS outcomes through mechanisms independent of conventional risk factors. Unique dietary patterns modulating ischemic stroke risk were also identified. Participants eating fish less than three times a week were higher in numbers among IS patients (16.67%) than in controls (0%), and the observed difference in proportions was statistically significant (p-value = 0.0261). The T allele was more prevalent in individuals with HHcy (27.3 %) than in those without HHcy (16.3%), while the C allele dominated in those without HHcy (83.7 %) compared to the hyperhomocysteinemic individuals (72.7%). Similarly, the TT genotype was more prevalent in the HHcy group (9.1%) than in the non-HHcy group (2%). The CT genotype also dominated in the HHcy group (36.4%) compared to the non-HHcy group (28.6%). The high frequencies of the T allele and the TT genotype in individuals with HHcy compared to those without HHcy Indicate that predisposition to the MTHFR C677T polymorphism may result in hyperhomocysteinemia. These findings emphasize the need for routine homocysteine screening, maintenance of a healthy diet, and the necessity for genetic testing for the C677T mutation in the MTHFR gene for early detection and management of these critical IS risk factors. Future large-scale interventional studies are recommended to fully understand the complex interactions between hyperhomocysteinemia and MTHFR polymorphisms in the pathogenesis of ischemic stroke.