Afzali Masoumeh, Hashemi Mohammad, Tabatabaei Seyed Payman, Fakheri Kourosh Tirgar, Nakhaee Alireza
Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran; Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
Biomed Rep. 2017 Jan;6(1):83-88. doi: 10.3892/br.2016.802. Epub 2016 Nov 7.
The aim of the present study was to investigate the association between a genetic variation, A+644G, in the Niemann-Pick type C1 (NPC1) gene and the risk of cardiovascular disease (CVD) in a Southeast Iranian population. A total of 320 individuals, including 200 patients with CVD and 120 healthy individuals, were involved in the present study. The polymorphism was determined using a polymerase chain reaction-restriction fragment length polymorphism method. The results indicated that the frequency of the GG genotype was markedly lower in patients with CVD compared with the control group (7 vs. 16.7%), and that the NPC1 rs1805081 polymorphism was associated with reduced risk of CVD [odds ratio (OR)=0.110; 95% confidence interval (CI)=0.017-0.715; P=0.021]. In addition, the prevalence of the minor allele (G) in patients with CVD differed from that of the control group with the frequency of 25.5 and 33.4% for the former and latter, respectively, and this difference reached statistical significance (OR=0.658; 95% CI=0.482-0.971; P=0.037). Furthermore, analysis of clinical characteristics of the individuals according to the NPC1 genotypes revealed an association between the lipid profile and NPC1 gene polymorphism. These findings demonstrated that the NPC1 A+644G variant was associated with reduced risk of CVD and serves a protective role against susceptibility to CVD in the Iranian population.
本研究的目的是调查伊朗东南部人群中尼曼-匹克C1型（NPC1）基因的一个基因变异A+644G与心血管疾病（CVD）风险之间的关联。本研究共纳入320名个体，包括200例CVD患者和120名健康个体。采用聚合酶链反应-限制性片段长度多态性方法确定该多态性。结果表明，与对照组相比，CVD患者中GG基因型的频率显著较低（7%对16.7%），且NPC1 rs1805081多态性与CVD风险降低相关[比值比（OR）=0.110；95%置信区间（CI）=0.017-0.715；P=0.021]。此外，CVD患者中次要等位基因（G）的患病率与对照组不同，前者和后者的频率分别为25.5%和33.4%，且这种差异具有统计学意义（OR=0.658；95%CI=0.482-0.971；P=0.037）。此外，根据NPC1基因型对个体的临床特征进行分析，发现血脂谱与NPC1基因多态性之间存在关联。这些发现表明，NPC1 A+644G变异与CVD风险降低相关，在伊朗人群中对CVD易感性起保护作用。
