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Published on: April 4, 2018
The Connotation of Variances in the Risk Predictors, Medications, Homocysteine, and Homocysteine Pathway Gene
Rizwan Masud1, Aleem Ul Haq Khan2, Aiman Farogh Anjum1
1Department of Physiology, CMH Kharian Medical College, Kharian, Pakistan.
Insights
This study found that elevated serum homocysteine, diastolic blood pressure, and a specific MTHFR gene variant (rs1801133) are linked to increased risk of cerebrovascular accidents (CVAs) or stroke. These biomarkers can aid in screening for CVA risk progression.
Area of Science:
- Genetics and Genomics
- Cardiovascular Medicine
- Neurology
Background:
- Cerebrovascular accidents (CVAs) are complex, multifactorial diseases influenced by genetic and environmental factors.
- Understanding the interplay of genetic predispositions and physiological markers is crucial for managing CVA risk.
Purpose of the Study:
- To investigate the association between cerebrovascular accidents (CVAs) and specific blood parameters.
- To explore the relationship between CVA risk and polymorphisms in homocysteine pathway genes.
- To identify genetic and biochemical markers for CVA risk assessment.
Main Methods:
- Analysis of single nucleotide polymorphisms (SNPs) in MTHFR, MS, PON1, and ACE genes using PCR-based methods.
- Assessment of blood parameters including serum homocysteine, cholesterol, high-density lipoproteins (HDL), and diastolic blood pressure.
- Statistical analysis using ANOVA and regression models to determine associations with CVA and transient ischemic attack (TIA).
Main Results:
- Cerebrovascular accidents (CVAs) showed significant associations with serum homocysteine, cholesterol, and diastolic blood pressure via ANOVA.
- Regression analysis identified serum homocysteine, diastolic blood pressure, HDL, and the MTHFR C677T (rs1801133) SNP as significant predictors of CVA/stroke risk.
- The study highlights the cumulative effect of genetic variations and circulating biomarkers on CVA risk.
Conclusions:
- Serum homocysteine, diastolic blood pressure, HDL levels, and MTHFR gene polymorphisms are valuable indicators for CVA risk.
- These identified genetic and biochemical variations can be utilized for screening purposes in stroke risk assessment.
- Further research into these factors can improve understanding and management of cerebrovascular diseases.
Abstract:
Cerebrovascular accidents (CVAs) are vascular multifactorial, multigenic ailments with intricate genetic, environmental risk influences. The present study aimed to establish affiliation of CVAs/stroke with blood parameters, differences in prescribed drugs consumption, and with differences in homocysteine pathway genes polymorphisms. The participants in study included controls n = 251, transient ischemic attack (TIA) patients n = 16, and stroke cases n = 122, respectively, (total participants, n = 389). The analyzed single nucleotide polymorphisms (SNPs) included C677T(rs1801133), A1298C(rs1801131) of methylene tetrahydrofolate reductase ( MTHFR ), A2756G(rs1805087) of methyl tetrahydrofolate homocysteine methyltransferase/methionine synthase ( MS ), and the A192G(rs662) of paraoxonase 1( PON1 ) genes, all validated by tetra-primer allele refractory mutation system polymerase chain reaction (T-ARMS-PCR). The insertion deletion (I/D; rs4646994) polymorphism in angiotensin converting enzyme ( ACE ) gene was analyzed using routine PCR. All studied traits were scrutinized through analysis of variance (ANOVA), and later through regression analysis. Through ANOVA and multiple comparison, there was association of CVA with serum homocysteine, cholesterol, and with diastolic blood pressure readings. When data was subjected to regression, serum homocysteine and diastolic blood pressure (significant through ANOVA), as well as two additional traits, high-density lipoproteins (HDL), and rs1801133 MTHFR SNP sustained statistical significance and noteworthy odds in relation to CVA and stroke. The ailments affecting cerebral vasculature are mutifactorial, whereby genes, proteins, and environmental cues all exert cumulative effects enhancing CVA risk. The current study emphasizes that SNPs and variation in circulating biomarkers can be used for screening purposes and for reviewing their effects in stroke/CVA-linked risk progression.
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