Urbano-Cano Astrid Lorena, Álvarez-Rosero Rosa Elvira, Liscano Yamil
Grupo de Investigación en Salud Integral (GISI), Departamento Facultad de Salud, Universidad Santiago de Cali, Cali 760035, Colombia.
Grupo de Investigación en Genética Humana Aplicada (GIGHA), Departamento de Ciencias Fisiológicas, Universidad del Cauca, Popayan 190003, Colombia.
Genes (Basel). 2025 Apr 30;16(5):545. doi: 10.3390/genes16050545.
Cardiovascular disease remains the leading cause of death worldwide, and dyslipidemia is a critical, modifiable risk factor.
We sought to evaluate the relationship between polymorphisms in (rs3764261), (rs662799), (rs1800796), and (Q192R) and lipid parameters, and to assess their contribution to dyslipidemia and overall cardiovascular risk in an urban cohort from Cauca, Colombia.
In this cross-sectional observational study, 304 participants aged 40-69 years were enrolled. Clinical, anthropometric, and biochemical data were collected, and genotyping was performed for the four target polymorphisms. We used descriptive statistics to characterize the sample, non-parametric tests to compare lipid levels by genotype, and multivariable logistic regression to identify independent predictors of dyslipidemia.
Individuals with dyslipidemia exhibited significantly higher total cholesterol and VLDL levels, lower HDL levels, and an elevated Castelli II index compared with the non-dyslipidemia group. Although genotype frequencies differed between groups, only the rs662799 variant was significantly associated with increased VLDL levels, suggesting its potential role as a genetic biomarker of cardiovascular risk.
Our findings underscore the interplay between metabolic factors and genetic variants in the pathogenesis of dyslipidemia. Notably, the rs662799 polymorphism emerged as a key determinant of VLDL concentration, highlighting its promise for personalized cardiovascular risk stratification and management in this population.
心血管疾病仍然是全球主要的死亡原因,而血脂异常是一个关键的、可改变的危险因素。
我们试图评估(rs3764261)、(rs662799)、(rs1800796)和(Q192R)基因多态性与血脂参数之间的关系,并评估它们对哥伦比亚考卡省一个城市队列中血脂异常和总体心血管风险的影响。
在这项横断面观察性研究中,纳入了304名年龄在40 - 69岁之间的参与者。收集了临床、人体测量和生化数据,并对四个目标多态性进行基因分型。我们使用描述性统计来描述样本特征,使用非参数检验按基因型比较血脂水平,并使用多变量逻辑回归来确定血脂异常的独立预测因素。
与非血脂异常组相比,血脂异常个体的总胆固醇和极低密度脂蛋白(VLDL)水平显著升高,高密度脂蛋白(HDL)水平降低,Castelli II指数升高。尽管各组之间的基因型频率有所不同,但只有rs662799变异与VLDL水平升高显著相关,表明其作为心血管风险遗传生物标志物的潜在作用。
我们的研究结果强调了代谢因素与基因变异在血脂异常发病机制中的相互作用。值得注意的是,rs662799多态性成为VLDL浓度的关键决定因素,突出了其在该人群中进行个性化心血管风险分层和管理的前景。