Department of Zoology, Government College University, Lahore, Pakistan,
Mol Biol Rep. 2014 Mar;41(3):1545-52. doi: 10.1007/s11033-013-3000-x. Epub 2014 Jan 9.
Myocardial infarction (MI) is the major cardiovascular disease. This can be caused by mutual interaction of environmental and genetic factors. The current study was designed to investigate the role of lipid metabolism related genetic polymorphisms with the onset of MI in Punjabi population of Pakistan. A total of 384 subjects was studied from April 2011 to July 2012. To determine the genetic associations with MI, the single nucleotide polymorphisms (SNPs) were genotyped by sequencing, as well as one label extension method. Out of eight SNPs in four candidate genes, seven genetic variants were significantly (P < 0.05) associated with elevated risk of MI. In current study two SNPs rs662799 risk allele G (P = 0.03) and rs3135506 risk allele C (P = 0.05) of APOA5 were found to be associated with significant higher risk of triglyceride levels, irrespective of age, sex, obesity, diabetes, hypertension and smoking. Gene variants (rs1558861, rs662799 and rs10750097) in APOA5 showed almost complete linkage disequilibrium and their minor allele frequencies (0.34, 0.28, and 0.41 respectively) were more prevalent (P < 0.05) in cases than controls. We further revealed risk haplotypes (C-T-G-A, G-C-A-G; P = 0.001) and protective haplotypes (G-T-A-G, C-C-G-A; P = 0.005) between these four SNPs for the progression of MI. Current study confirms the correlation between lipid metabolism related SNPs with MI and supports the role of APOA5 in raising plasma triglyceride levels in Pakistanis. However further studies are needed for delineating the role of these SNPs.
心肌梗死（MI）是主要的心血管疾病。这可能是由环境和遗传因素的相互作用引起的。本研究旨在探讨脂质代谢相关基因多态性与巴基斯坦旁遮普人群 MI 发病的关系。2011 年 4 月至 2012 年 7 月期间共研究了 384 例患者。为了确定与 MI 相关的遗传相关性，通过测序以及一种标签扩展方法对单核苷酸多态性（SNP）进行了基因分型。在四个候选基因中的 8 个 SNP 中，有 7 个遗传变异与 MI 风险升高显著相关（P<0.05）。在本研究中，APOA5 的两个 SNP rs662799 风险等位基因 G（P=0.03）和 rs3135506 风险等位基因 C（P=0.05）与甘油三酯水平升高的显著更高风险相关，而与年龄、性别、肥胖、糖尿病、高血压和吸烟无关。APOA5 中的基因变异（rs1558861、rs662799 和 rs10750097）几乎完全连锁不平衡，其次要等位基因频率（分别为 0.34、0.28 和 0.41）在病例中更为常见（P<0.05）。我们进一步揭示了这些四个 SNP 之间的风险单倍型（C-T-G-A、G-C-A-G；P=0.001）和保护单倍型（G-T-A-G、C-C-G-A；P=0.005）与 MI 的进展有关。本研究证实了脂质代谢相关 SNP 与 MI 之间的相关性，并支持 APOA5 在提高巴基斯坦人血浆甘油三酯水平中的作用。然而，需要进一步研究来阐明这些 SNP 的作用。
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