MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and...

Area of Science:

• Genetics and Neurology
• Cardiovascular Medicine
• Molecular Biology

Background:

• Cardioembolic stroke (CES) is a severe ischemic stroke subtype linked to diabetes mellitus, hypertension, smoking, hyperlipidemia, and atrial fibrillation.
• Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (C677T and A1298C) are increasingly associated with ischemic stroke risk.

Purpose of the Study:

• To investigate the prevalence of MTHFR gene polymorphisms (C677T and A1298C).
• To analyze the correlation between MTHFR polymorphisms and cardiovascular risk factors in patients with CES due to non-valvular atrial fibrillation (NVAF).

Main Methods:

• Cross-sectional study involving 67 acute CES patients with NVAF.
• Evaluations included physical examination, neurological status, stroke severity assessment, imaging, and genetic testing for MTHFR C677T and A1298C polymorphisms.

Main Results:

• MTHFR polymorphisms were prevalent: 38.2% for C677T and 40.3% for A1298C.
• The C677T mutation correlated with increased diastolic blood pressure, total cholesterol, LDLc, triglycerides, hsCRP, HbA1c, and lower HDLc, alongside higher CHA2DS2VASC and HASBLED scores.
• The A1298C mutation was linked to increased stroke severity (NIHSS, mRS) and higher triglyceride levels (OR=2.983).

Conclusions:

• MTHFR gene polymorphisms are highly prevalent in NVAF-related CES patients.
• The C677T mutation is associated with greater stroke severity and a higher incidence of cardiovascular comorbidities like hypertension, dyslipidemia, diabetes, and inflammation.
• The A1298C mutation correlated with increased lacunar stroke, stroke recurrence, and dyslipidemia.