Ghaznavi Habib, Aali Ehsan, Soltanpour Mohammad Soleiman
Health Promotion Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Pharmacology, School of Medicine, Qazvin University of Medical Sciences, Qazvin, Iran.
Open Access Maced J Med Sci. 2018 Feb 11;6(2):274-279. doi: 10.3889/oamjms.2018.063. eCollection 2018 Feb 15.
plays essential roles in the biogenesis of high -density lipoprotein - cholesterol. Variations in the ABCA1 gene may influence the risk of coronary artery disease (CAD).
Present study aimed to investigate the association of rs2230806 (R219K) polymorphism of gene with the development and severity of CAD in an Iranian population.
Our study population consisted of 100 patients with angiographically confirmed CAD and 100 controls. The genotyping of mutation of gene was determined by PCR - RFLP method. Lipid profile was determined using routine colourimetric assays. Statistical analysis was done by SPSS - 16.
The genotypic (P = 0.024) and allelic (P = 0.001) distribution of the polymorphism were significantly different between the two groups. In a univariate analysis (with genotype RR as the reference), the genotype (OR = 0.46, 95%CI = 0.25-0.86, P = 0.020) and genotype (OR = 0.27, 95%CI = 0.11 - 0.66, P = 0.005) was significantly associated with a decreased risk of CAD. A multiple logistic regression analysis revealed that smoking (0.008), diabetes (P = 0.023), triglyceride (P = 0.001), HDL - cholesterol (P = 0.002) and genotype (P = 0.009) were significantly and independently associated with the risk of CAD. The association between different genotypes of polymorphism with lipid profile was not significant in both groups (P > 0.05). The polymorphism was significantly associated with severity of CAD (P < 0.05).
The carriage of K allele of polymorphism has a protective effect on CAD risk and correlates with a decreased severity of CAD. This protective effect seems to be mediated independently of plasma lipid levels.
在高密度脂蛋白胆固醇的生物合成中起重要作用。ABCA1基因的变异可能影响冠状动脉疾病（CAD）的风险。
本研究旨在调查伊朗人群中ABCA1基因rs2230806（R219K）多态性与CAD发生发展及严重程度的关联。
我们的研究人群包括100例经血管造影证实的CAD患者和100例对照。采用PCR-RFLP方法对ABCA1基因突变进行基因分型。使用常规比色法测定血脂谱。采用SPSS-16进行统计分析。
两组间ABCA1多态性的基因型分布（P = 0.024）和等位基因分布（P = 0.001）有显著差异。在单因素分析中（以RR基因型为参照），RK基因型（OR = 0.46，95%CI = 0.25 - 0.86，P = 0.020）和KK基因型（OR = 0.27，95%CI = 0.11 - 0.66，P = 0.005）与CAD风险降低显著相关。多因素logistic回归分析显示，吸烟（P = 0.008）、糖尿病（P = 0.023）、甘油三酯（P = 0.001）、高密度脂蛋白胆固醇（P = 0.002）和KK基因型（P = 0.009）与CAD风险显著且独立相关。两组中ABCA1多态性不同基因型与血脂谱之间的关联均不显著（P > 0.05）。ABCA1多态性与CAD严重程度显著相关（P < 0.05）。
ABCA1多态性K等位基因的携带对CAD风险具有保护作用，并与CAD严重程度降低相关。这种保护作用似乎独立于血浆脂质水平介导。
