Zhang Qian, Chu Yang, Jin Guojiang, Dai Jinna, Kang Hui
Department of Laboratory Medicine, The First Affiliated Hospital of China Medical University, Shenyang, China.
Genet Test Mol Biomarkers. 2020 Mar;24(3):138-144. doi: 10.1089/gtmb.2019.0209. Epub 2020 Feb 26.
Carotid atherosclerosis is one of the major risk factors for ischemic stroke. The presence of carotid plaque has been widely used to assess the risk of clinical atherosclerotic disease. Lectin-type oxidized LDL (low-density lipoprotein) receptor 1 (LOX-1), lysosomal acid lipase (LAL), and acyl-CoA:cholesterol acyltransferase 1 (ACAT1) are important for lipid accumulation in atherosclerosis. The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) in the , , and genes and the presence of carotid plaque in a Northern Chinese population. Three polymorphisms in (rs1050286), (rs11203042), and (rs11576517) were identified and genotyped in 215 patients with carotid plaque and 252 controls using the polymerase chain reaction with high-resolution melting analysis. The (rs1050286) AA and (rs11203042) TT genotypes were significantly associated with increased risk of carotid plaque, whereas a (rs11576517) TT genotype was shown to be protective against carotid plaque in a Northern Chinese population ( < 0.05). Even after the Bonferroni correction, the (rs11203042) TT genotype (odds ratio = 3.838, 95% confidence interval = 1.748-8.426, < 0.001) was still associated with an increased risk for carotid plaque. These results suggest that the (rs11203042) TT genotype is associated with increased risk for carotid plaque in a Northern Chinese population, and that the (rs1050286) AA genotype shows a nonstatistically significant trend towards association. However, no association was found between the (rs11576517) polymorphisms and carotid plaque presence.
颈动脉粥样硬化是缺血性卒中的主要危险因素之一。颈动脉斑块的存在已被广泛用于评估临床动脉粥样硬化疾病的风险。凝集素型氧化低密度脂蛋白（LDL）受体1（LOX-1）、溶酶体酸性脂肪酶（LAL）和酰基辅酶A：胆固醇酰基转移酶1（ACAT1）在动脉粥样硬化的脂质蓄积过程中起重要作用。本研究的目的是调查中国北方人群中LOX-1、LAL和ACAT1基因的单核苷酸多态性（SNP）与颈动脉斑块存在情况之间的关系。采用聚合酶链反应-高分辨率熔解分析技术，对215例有颈动脉斑块的患者和252例对照者进行了LOX-1基因（rs1050286）、LAL基因（rs11203042）和ACAT1基因（rs11576517）的3个多态性位点的鉴定和基因分型。在中国北方人群中，LOX-1基因（rs1050286）的AA基因型和LAL基因（rs11203042）的TT基因型与颈动脉斑块风险增加显著相关，而ACAT1基因（rs11576517）的TT基因型对颈动脉斑块具有保护作用（P<0.05）。即使经过Bonferroni校正，LAL基因（rs11203042）的TT基因型（优势比=3.838，95%置信区间=1.748-8.426，P<0.001）仍与颈动脉斑块风险增加相关。这些结果表明，在中国北方人群中，LAL基因（rs11203042）的TT基因型与颈动脉斑块风险增加相关，LOX-1基因（rs1050286）的AA基因型显示出一种无统计学意义的关联趋势。然而，未发现ACAT1基因（rs11576517）多态性与颈动脉斑块存在情况之间存在关联。
