The common genetic variant in the promoter region of the hepatic lipase gene [LIPC −250G/A(rs2070895)] has an ambiguous association with cardiovascular disease. In this context, our study was performed to identify the relationships between the rs2070895 with carotid atherosclerosis, plasma lipids, and parameters of reverse cholesterol transport. A total of 285 normolipidemic and asymptomatic participants from an initial sample of 598,288 individuals (inclusion criteria: LDL‐C ≤130 mg/dL and triglycerides ≤150 mg/dL; age: 20–75 years, both genders; confirmation of clinical, anthropometric and laboratory data; attended all visits; DNA was achieved to perform genetic analysis) were enrolled and the rs2070895 variant was genotyped by TaqMan® OpenArray® Plataform. Carotid intima‐media thickness and the screening of atherosclerotic plaques were determined by B‐mode ultrasonography. The rs2070895 genotype frequencies were 0.44, 0.41, and 0.15 (GG, GA, and AA, respectively). Logistic regression analysis showed that the risk of having plaques was increased in participants carrying the AA or AG genotypes (OR = 3.90; 95% CI = 1.54–10.33), despite an increase in high‐density lipoprotein cholesterol levels, HDL diameter and apolipoprotein A‐I, as compared to the GG genotype. Hepatic lipase and endogenous lecithin cholesterol acyl transferase activities were reduced (38% and 19%, respectively) and lipoprotein lipase was increased by 30% (AA vs GG). Our results provide evidence that the AA or AG genotypes of the rs2070895 were associated with carotid atherosclerosis in apparently healthy participants, probably as a consequence of reduced reverse cholesterol transport and accumulation of HDL subfraction 2 rich in triglycerides and depleted in cholesteryl esters that could become dysfunctional.

中文翻译：

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肝酶-250A / G（rs2070895）变体C增强巴西正常血脂和无症状个体的颈动脉粥样硬化。

肝脂肪酶基因[ LIPC]启动子区域的常见遗传变异−250G / A（rs2070895）]与心血管疾病有不明确的关联。在这种情况下，我们进行了研究，以确定rs2070895与颈动脉粥样硬化，血浆脂质和胆固醇反向转运参数之间的关系。初始样本为598,288人，共有285名降血脂和无症状参与者（纳入标准：LDL-C≤130mg / dL和甘油三酸酯≤150mg / dL；年龄：20-75岁，男女；临床，人体测量学确认实验室数据；参加所有访问；获得DNA进行遗传分析），并用TaqMan®OpenArray®Plataform对rs2070895变体进行基因分型。颈动脉内膜中层厚度和动脉粥样硬化斑块的筛查通过B超检查确定。rs2070895基因型频率分别为0.44、0.41，和0.15（分别为GG，GA和AA）。Logistic回归分析显示，尽管高密度脂蛋白胆固醇水平，HDL直径和载脂蛋白A有所增加，但携带AA或AG基因型的参与者发生斑块的风险有所增加（OR = 3.90； 95％CI = 1.54–10.33）。 ‐I，与GG基因型相比。肝脂肪酶和内源性卵磷脂胆固醇酰基转移酶活性降低（分别为38％和19％），脂蛋白脂肪酶提高30％（AA vs GG）。我们的结果提供了证据，表明rs2070895的AA或AG基因型与明显健康的参与者的颈动脉粥样硬化有关，