Turkish Ministry of Health, National Public Health Agency, 06100, Sıhhiye Ankara, Turkey.
Mol Biol Rep. 2012 Dec;39(12):10459-68. doi: 10.1007/s11033-012-1926-z. Epub 2012 Oct 13.
Atherosclerosis, a major cause of ischemic stroke, may be associated with variability of triglyceride (TG) levels. Apolipoprotein A5 (APOA5) genetic polymorphisms are associated with altered TG levels. The objective of this study was to investigate the coding region polymorphisms S19W (rs3135506) and G185C (rs2075291) and the promoter region polymorphism -1131T>C (rs662799) of the APOA5 gene as risk factors for ischemic stroke in Turkish population. Study group consisted of 272 ischemic stroke patients and 123 controls. Genotypes were determined by real-time polymerase chain reaction (PCR) for S19W and PCR-restriction fragment length polymorphism analysis (PCR-RFLP) for -1131T>C and G185C. 19W allele frequency was 0.090 in stroke patients and 0.062 in controls (P = 0.191). Minor allele frequencies of -1131T>C and G185C in patients were 0.106 and 0.004, respectively, and were nearly the same in controls. Total cholesterol and LDL-cholesterol levels were significantly higher for stroke patients having at least one 19W allele compared to non-carriers. A significant difference was also found for LDL-cholesterol levels of stroke patients; higher in -1131C allele carriers compared to wild type patients. There was a trend for higher frequency of ischemic stroke among -1131C allele carrier hypertensive, diabetic or obese subjects compared to non-carriers. However, APOA5 genotypes were not associated with the risk of ischemic stroke by logistic regression analysis. The present study demonstrated that carrying rare alleles of APOA5 S19W, -1131T>C and G185C alone do not constitute a risk for ischemic stroke in the studied Turkish subjects.
动脉粥样硬化是缺血性中风的主要原因，可能与甘油三酯 (TG) 水平的变化有关。载脂蛋白 A5 (APOA5) 基因的遗传多态性与 TG 水平的改变有关。本研究旨在探讨 APOA5 基因的编码区多态性 S19W(rs3135506)、G185C(rs2075291)和启动子区多态性-1131T>C(rs662799)是否为土耳其人群缺血性中风的危险因素。研究组包括 272 例缺血性中风患者和 123 例对照。S19W 采用实时聚合酶链反应 (PCR)，-1131T>C 和 G185C 采用 PCR-限制性片段长度多态性分析 (PCR-RFLP) 确定基因型。中风患者 19W 等位基因频率为 0.090，对照组为 0.062(P=0.191)。患者-1131T>C 和 G185C 等位基因频率分别为 0.106 和 0.004，与对照组相近。与非携带者相比，至少携带一个 19W 等位基因的中风患者总胆固醇和 LDL-胆固醇水平显著升高。中风患者-1131C 等位基因携带者 LDL-胆固醇水平也明显高于野生型患者。与非携带者相比，-1131C 等位基因携带者中高血压、糖尿病或肥胖患者的缺血性中风发生率呈上升趋势。然而，通过逻辑回归分析，APOA5 基因型与缺血性中风的风险无关。本研究表明，在研究的土耳其人群中，单独携带 APOA5 S19W、-1131T>C 和 G185C 的罕见等位基因并不构成缺血性中风的风险。
