Hameed Hafsa, Faryal Maemona, Aslam Muhammad Assad, Akbar Atif, Saad Abu Bakar Ali, Pasha Muhammad Burhan, Latif Muhammad, Rehan Sadiq Shaikh Rehan Rehan Sadiq Shaikh, Ali Muhammad, Iqbal Furhan
Institute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University Multan, Pakistan.
Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University Multan, Pakistan.
Pak J Pharm Sci. 2016 May;29(3):869-76.
Acute coronary artery syndrome (ACS) is the major cause of mortality in Pakistan with genetic and environmental influence on the incidence of the disease. This case-control study was designed to find out if a correlation is existing between ACS and single nucleotide polymorphisms (SNPs) in DNA repair genes XPD [at codon 751, rs 13181 (Lys to Gln)] and XRCC1 [at codon 399, rs25487 (Arg to Gln); 280, rs25489 (Arg to His) and 194, rs 1799782 (Arg to Trp)] either individually or in various combination with each other (haplotype analysis). The objective of this study was to find out the association of various studied risk factors and serum lipid profile of the subjects with the disease, if any. PCR-RFLP method was used to determine genotype at specific codon in 221 subjects (115 ACS patients and 106 healthy controls) from Southern Punjab population. Genotypic and allelic frequency distribution among the cases and controls revealed that all the studied SNPs were not individually associated with the ACS. Haplotype analysis revealed that subjects having wild type combination of all three XRCC1 SNPs had greater susceptibility to ACS than any other studied genotypic combinations. Analysis of risk factors revealed that hypertension (P<0.001), age (P=0.05), education (P<0.001), gender (P<0.001), family history (P=0.005), smoking habit (P=0.002) and diabetes (P<0.001) were significantly associated with the incidence of ACS. Serum lipid profile analysis indicated that cholesterol level was significantly higher (P=0.048) in patients (161.5mg/dL) than controls (142.1mg/dL) while triglyceride remained unaffected (P=0.87) when compared between the two treatments.
急性冠状动脉综合征（ACS）是巴基斯坦主要的死亡原因，该病的发病率受遗传和环境因素影响。本病例对照研究旨在确定ACS与DNA修复基因XPD [密码子751，rs 13181（赖氨酸到谷氨酰胺）]和XRCC1 [密码子399，rs25487（精氨酸到谷氨酰胺）；280，rs25489（精氨酸到组氨酸）以及194，rs 1799782（精氨酸到色氨酸）]中的单核苷酸多态性（SNP）之间是否存在相关性，无论是单独存在还是相互之间的各种组合（单倍型分析）。本研究的目的是找出所研究的各种风险因素以及受试者的血清脂质谱与该疾病之间是否存在关联（若有）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对来自旁遮普邦南部人群的221名受试者（115例ACS患者和106名健康对照）特定密码子的基因型进行测定。病例组和对照组之间的基因型和等位基因频率分布显示，所有研究的SNP均未单独与ACS相关。单倍型分析显示，与任何其他研究的基因型组合相比，具有所有三个XRCC1 SNP野生型组合的受试者对ACS的易感性更高。风险因素分析显示，高血压（P<0.001）、年龄（P=0.05）、教育程度（P<0.001）、性别（P<0.001）、家族病史（P=0.005）、吸烟习惯（P=0.002）和糖尿病（P<0.001）与ACS的发病率显著相关。血清脂质谱分析表明，患者（161.5mg/dL）的胆固醇水平显著高于对照组（142.1mg/dL）（P=0.048），而两种治疗方法比较时甘油三酯水平未受影响（P=0.87）。
