Reddy S, Kaur Naindeep, Singh Jagtar
Department of Cardiology, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India.
J Genet. 2018 Dec;97(5):1371-1378.
There is a drastic increase in the number of people suffering from coronary artery disease (CAD) worldwide with Indians being no exception. Being a developing country and experiencing a dramatic shift in lifestyle and eating habits, urbanization and industrialization, all these factors have collectively predisposed the Indian population towards CAD and the prevalence data arequite alarming. Genetic studies have disclosed the role of genes in CAD susceptibility and severity. One such gene is proprotein convertase subtilisin/kexin type 9 () which is sought to modulate the cholesterol levels and hence, has implications in CAD. We aim to explore the association of A/G (rs505151) polymorphism and hence, the susceptibility towards CAD in the north Indian population. Five-hundred angiographically confirmed CAD patients and 500 healthy individuals as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis revealed a significant association with the G allele with odds ratio (OR)=1.50, 95% confidence interval (CI)=1.22-1.85 and =0.000. Also, a strong association was observedfor CAD risk with OR=1.590, 95% CI=1.106-2.284 and =0.012. However, the homozygous GG mutant genotype was found to be completely absent from our population. Analysis of the dominant model also revealed an association with CAD risk. Our work demonstrated for the first time the association of A/G (rs505151) polymorphism with CAD risk in the north Indian population.
全球范围内,冠心病(CAD)患者数量急剧增加,印度人也不例外。作为一个发展中国家,印度在生活方式、饮食习惯、城市化和工业化方面经历了巨大转变,所有这些因素共同使印度人口易患CAD,其患病率数据相当惊人。基因研究揭示了基因在CAD易感性和严重程度中的作用。其中一个基因是前蛋白转化酶枯草溶菌素/kexin 9型(),该基因旨在调节胆固醇水平,因此与CAD有关。我们旨在探讨A/G(rs505151)多态性与印度北部人群CAD易感性之间的关联。通过聚合酶链反应-限制性片段长度多态性对500例经血管造影确诊的CAD患者和500例健康个体作为对照进行基因分型。统计分析显示,G等位基因与CAD存在显著关联,比值比(OR)=1.50,95%置信区间(CI)=1.22-1.85,P=0.000。此外,观察到CAD风险与OR=1.590、95%CI=1.106-2.284和P=0.012之间存在强关联。然而,我们研究人群中完全不存在纯合GG突变基因型。显性模型分析也显示与CAD风险存在关联。我们的研究首次证明了A/G(rs505151)多态性与印度北部人群CAD风险之间的关联。