Molecular Biology Lab, Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, UP, 226025, India.
Department of Cardiology, Era's Lucknow Medical College and Hospital, Lucknow, India.
Mol Cell Biochem. 2018 Aug;445(1-2):117-122. doi: 10.1007/s11010-017-3257-9. Epub 2018 Jan 3.
Coronary artery disease (CAD) is the leading cause of death worldwide and it is basically caused by atherosclerosis. The atherosclerotic process includes complex events and each one involves a specific biological pathway and different genes. According to World Health Organization report, Cardiovascular diseases will be the largest cause of death and disability by 2020, with an estimated 2.6 million Indians predicted to die due to CAD predominantly with myocardial infarction. Genetic factors are estimated to contribute 30-60% of the CAD risk. The aim of this study is to investigate the association of COL4A1 and CD14 genes polymorphism with CAD. This study included 345 subjects, 185 CAD cases and 160 healthy controls. Single-nucleotide polymorphisms were evaluated by polymerase chain reaction and restriction fragment length polymorphism. Alleles and genotype frequencies between cases and controls were compared using χ and Student's t tests. Odds ratios and 95% confidence intervals were calculated by logistic regression to assess the relative association between disease and genotypes. In this study, CD14 (rs2569190), CC (P = 0.008) genotypes, and C allele (P = 0.007) were found to be a positive risk factor, while TT genotype (P = 0.045) and T allele (P = 0.007) as negative risk factor for CAD. Significant differences were not observed in COL4A1 (rs605143 and rs565470) gene polymorphism with CAD. It seems that CD14 gene polymorphism might be associated with the risk of CAD, whereas COL4A1 gene polymorphism was not found to confer any risk of CAD.
冠心病（CAD）是全球范围内导致死亡的主要原因，其基本病因是动脉粥样硬化。动脉粥样硬化过程包括复杂的事件，每一个事件都涉及特定的生物学途径和不同的基因。根据世界卫生组织的报告，心血管疾病将成为 2020 年最大的死亡和致残原因，预计将有 260 万印度人主要因 CAD 而死亡，其中以心肌梗死为主。遗传因素估计占 CAD 风险的 30-60%。本研究旨在探讨 COL4A1 和 CD14 基因多态性与 CAD 的关系。本研究纳入了 345 名受试者，其中 185 例 CAD 患者和 160 名健康对照者。通过聚合酶链反应和限制性片段长度多态性评估单核苷酸多态性。使用 χ 和 Student's t 检验比较病例组和对照组的等位基因和基因型频率。使用逻辑回归评估疾病和基因型之间的相对关联，计算比值比和 95%置信区间。在这项研究中，CD14（rs2569190）CC 基因型（P=0.008）和 C 等位基因（P=0.007）被发现是阳性危险因素，而 TT 基因型（P=0.045）和 T 等位基因（P=0.007）是 CAD 的阴性危险因素。COL4A1（rs605143 和 rs565470）基因多态性与 CAD 之间无显著差异。似乎 CD14 基因多态性可能与 CAD 的发病风险相关，而 COL4A1 基因多态性未发现与 CAD 的发病风险相关。
