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Article

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

1
Department of Neurology, Arad County Emergency Clinical Hospital, 310158 Arad, Romania
2
Department of Cardiology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
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Department of Functional Sciences, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
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Department of Internal Medicine, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
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Department of Cardiology, Institute of Cardiovascular Diseases, 300020 Timisoara, Romania
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Department of Cardiology, Faculty of Medicine and Pharmacy, “Vasile Goldis” Western University of Arad, 310045 Arad, Romania
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Department of Neurology, Ovidius University of Constanta, 900527 Constanța, Romania
8
Deparment of Sport and Kinetotherapy, Faculty of Physical Education and Sport, Ovidius University of Constanta, 900527 Constanța, Romania
*
Authors to whom correspondence should be addressed.
Brain Sci. 2020, 10(8), 476; https://doi.org/10.3390/brainsci10080476
Received: 30 May 2020 / Revised: 7 July 2020 / Accepted: 20 July 2020 / Published: 24 July 2020
(This article belongs to the Section Molecular and Cellular Neuroscience)
Background: Cardioembolic stroke (CES), generally known as the most severe subtype of ischemic stroke, is related to many factors, including diabetes mellitus (DM), hypertension (HTN), smoking, hyperlipidemia and atrial fibrillation (AF). Genetic mutations of the methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C have been recently associated with ischemic stroke. The purpose of this study was to analyze the prevalence of MTHFR gene polymorphisms correlated with cardiovascular risk factors in a selected population of patients with CES due to non-valvular AF (NVAF). Methods: This cross-sectional study was performed on 67 consecutive patients with acute cardioembolic stroke admitted to our hospital. The protocol included general physical examination, neurological clinical status and stroke severity evaluation, imagistic evaluation and genetic testing of MTHFRC677T and A1298C polymorphisms. Results: The prevalence of MTHFR polymorphisms in the study population was 38.2% for C677T and 40.3% for A1298C. The C677T mutation was significantly correlated with increased diastolic blood pressure (DBP) values (p = 0.007), higher total cholesterol (TC) (p = 0.003), low-density lipoprotein cholesterol (LDLc) (p = 0.003) and triglycerides (TGL) (p = 0.001), increased high-sensitive C-reactive protein (hsCRP) values (p = 0.015), HbA1c (p = 0.004) and left ventricle ejection fraction (LVEF) (p = 0.047) and lower high-density lipoprotein cholesterol (HDLc) (p < 0.001) compared to patients without this genetic variant. This genetic profile also included significantly higher CHA2DS2VASC (p = 0.029) and HASBLED (Hypertension, Abnormal liver/renal function, Stroke, Bleeding, Labile INR, Elderly age(>65 years), Drug/Alcohol usage history/Medication usage with bleeding predisposition) (p = 0.025) scores. Stroke severity in patients with MTHFRA1298C mutation was significantly increased when applying National Institutes of Health Stroke Scale (NIHSS) (p = 0.006) and modified Rankin scale (mRS) (p = 0.020) scores. The presence of A1298C mutation as a dependent variable was associated with significantly higher TGL values (odds ratio (OR) = 2.983, 95%CI = (1.972, 7.994)). Conclusions: The results obtained in this study demonstrate that MTHFR gene polymorphisms have a high prevalence in an NVAF cardioembolic stroke population. Moreover, an association between C677T mutation and stroke severity was highlighted. The C677T mutation in patients with NVAF was correlated with a higher incidence of cardiovascular comorbidities (hypertension HTN, heart failure (HF), dyslipidemia, type II diabetes mellitus (T2DM) with high HbA1c and increased inflammatory state). The A1298CMTHFR gene mutation was associated with a higher incidence of previous lacunar stroke and stroke recurrence rate, while dyslipidemia was the main cardiovascular comorbidity in this category. View Full-Text
Keywords: cardioembolic stroke; MTHFR gene polymorphisms; C677T mutation; A1298C mutation; non-valvular atrial fibrillation cardioembolic stroke; MTHFR gene polymorphisms; C677T mutation; A1298C mutation; non-valvular atrial fibrillation
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MDPI and ACS Style

Chita, D.S.; Tudor, A.; Christodorescu, R.; Buleu, F.N.; Sosdean, R.; Deme, S.M.; Mercea, S.; Pop Moldovan, A.; Pah, A.M.; Docu Axelerad, A.; Docu Axelerad, D.; Dragan, S.R. MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and Severity. Brain Sci. 2020, 10, 476. https://doi.org/10.3390/brainsci10080476

AMA Style

Chita DS, Tudor A, Christodorescu R, Buleu FN, Sosdean R, Deme SM, Mercea S, Pop Moldovan A, Pah AM, Docu Axelerad A, Docu Axelerad D, Dragan SR. MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and Severity. Brain Sciences. 2020; 10(8):476. https://doi.org/10.3390/brainsci10080476

Chicago/Turabian Style

Chita, Dana S.; Tudor, Anca; Christodorescu, Ruxandra; Buleu, Florina N.; Sosdean, Raluca; Deme, Sanda M.; Mercea, Simona; Pop Moldovan, Adina; Pah, Ana M.; Docu Axelerad, Any; Docu Axelerad, Daniel; Dragan, Simona R. 2020. "MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and Severity" Brain Sci. 10, no. 8: 476. https://doi.org/10.3390/brainsci10080476

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