Abstract：
Epidemiological studies have reported that the Mexican population is highly susceptible to dyslipidemia. The MARC1, ADCY5, and BCO1 genes have recently been involved in lipidic abnormalities. This study aimed to analyze the association of single nucleotide polymorphisms (SNPs) rs2642438, rs56371916, and rs6564851 on MARC1, ADCY5, and BCO1 genes, respectively, with the lipid profile in a cohort of Mexican adults. We included 1900 Mexican adults from the Health Workers Cohort Study. Demographic and clinical data were collected through a structured questionnaire and standardized procedures. Genotyping was performed using a predesigned TaqMan assay. A genetic risk score (GRS) was created on the basis of the three genetic variants. Associations analysis was estimated using linear and logistic regression. Our results showed that rs2642438-A and rs6564851-A alleles had a risk association for hypertriglyceridemia (OR = 1.57, p = 0.013; and OR = 1.33, p = 0.031, respectively), and rs56371916-C allele a trend for low HDL-c (OR = 1.27, p = 0.060) only in men. The GRS revealed a significant association for hypertriglyceridemia (OR = 2.23, p = 0.022). These findings provide evidence of an aggregate effect of the MARC1, ADCY5, and BCO1 variants on the risk of hypertriglyceridemia in Mexican men. This knowledge could represent a tool for identifying at-risk males who might benefit from early interventions and avoid secondary metabolic traits.
摘要：
流行病学研究报告说，墨西哥人群极易患血脂异常。MARC1、ADCY5和BCO1基因最近与脂质异常有关。本研究旨在分析单核苷酸多态性（SNPs）rs2642438，rs56371916和rs6564851在MARC1，ADCY5和BCO1基因上的关联。分别,与一组墨西哥成年人的血脂特征。我们纳入了来自卫生工作者队列研究的1900名墨西哥成年人。通过结构化问卷和标准化程序收集人口统计学和临床数据。使用预先设计的TaqMan测定法进行基因分型。基于三种遗传变异产生遗传风险评分(GRS)。使用线性和逻辑回归估计关联分析。我们的结果显示rs2642438-A和rs6564851-A等位基因具有高甘油三酯血症的风险关联(分别为OR=1.57,p=0.013;和OR=1.33,p=0.031),rs56371916-C等位基因仅在男性中出现低HDL-c的趋势(OR=1.27,p=0.060)。GRS显示与高甘油三酯血症显著相关(OR=2.23,p=0.022)。这些发现提供了MARC1，ADCY5和BCO1变体对墨西哥男性高甘油三酯血症风险的综合作用的证据。这些知识可以代表一种工具，用于识别可能从早期干预中受益并避免次要代谢特征的高危男性。
