Masud Rizwan, Khan Aleem Ul Haq, Anjum Aiman Farogh, Jawwad Ghazala, Azeem Zahid, Baqai Haider Zaigham, Hashmi Shoaib Naiyar
Department of Physiology, CMH Kharian Medical College, Kharian, Pakistan.
Department of Biochemistry, CMH Kharian Medical College, Kharian, Pakistan.
Glob Med Genet. 2020 Dec;7(4):113-120. doi: 10.1055/s-0041-1722884. Epub 2021 Feb 9.
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 = 251, transient ischemic attack (TIA) patients = 16, and stroke cases = 122, respectively, (total participants, = 389). The analyzed single nucleotide polymorphisms (SNPs) included C677T(rs1801133), A1298C(rs1801131) of methylene tetrahydrofolate reductase ( ), A2756G(rs1805087) of methyl tetrahydrofolate homocysteine methyltransferase/methionine synthase ( ), and the A192G(rs662) of paraoxonase 1( ) 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 ( ) 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.
脑血管意外（CVA）是具有复杂遗传和环境风险影响的血管多因素、多基因疾病。本研究旨在确定CVA/中风与血液参数、处方药消费差异以及同型半胱氨酸途径基因多态性差异之间的关联。研究参与者分别包括对照组 = 251例、短暂性脑缺血发作（TIA）患者 = 16例和中风病例 = 122例（总参与者，= 389例）。分析的单核苷酸多态性（SNP）包括亚甲基四氢叶酸还原酶（MTHFR）的C677T（rs1801133）、A1298C（rs1801131），甲基四氢叶酸同型半胱氨酸甲基转移酶/甲硫氨酸合酶（MTR）的A2756G（rs1805087），以及对氧磷酶1（PON1）基因的A192G（rs662），所有这些均通过四引物等位基因特异性突变系统聚合酶链反应（T-ARMS-PCR）进行验证。使用常规PCR分析血管紧张素转换酶（ACE）基因中的插入缺失（I/D；rs4646994）多态性。所有研究性状均通过方差分析（ANOVA）进行审查，随后进行回归分析。通过ANOVA和多重比较，发现CVA与血清同型半胱氨酸、胆固醇以及舒张压读数之间存在关联。当对数据进行回归分析时，血清同型半胱氨酸和舒张压（通过ANOVA具有显著性），以及另外两个性状，即高密度脂蛋白（HDL）和rs1801133 MTHFR SNP在与CVA和中风的关系中保持统计学显著性和显著的优势比。影响脑血管的疾病是多因素的，基因、蛋白质和环境因素都会产生累积效应，增加CVA风险。当前研究强调，SNP和循环生物标志物的变异可用于筛查目的，并用于评估它们在中风/CVA相关风险进展中的作用。
