Camacho-Mejorado Rafael, Gómez Rocío, Torres-Sánchez Luisa E, Alhelí Hernández-Tobías Esther, Noris Gino, Santana Carla, Magaña Jonathan J, Orozco Lorena, de la Peña-Díaz Aurora, de la Luz Arenas-Sordo María, Meraz-Ríos Marco Antonio, Majluf-Cruz Abraham
Departamento de Toxicología, Cinvestav-IPN, Mexico City 07360, Mexico.
Centro de Investigación en Salud Poblacional, Instituto Nacional de Salud Pública, Cuernavaca, Morelos, Mexico.
R Soc Open Sci. 2020 Jan 15;7(1):190775. doi: 10.1098/rsos.190775. eCollection 2020 Jan.
Atherothrombosis is the cornerstone of cardiovascular diseases and the primary cause of death worldwide. Genetic contribution to disturbances in lipid metabolism, coagulation, inflammation and oxidative stress increase the susceptibility to its development and progression. Given its multifactorial nature, the multiloci studies have been proposed as potential predictors of susceptibility. A cross-sectional study was conducted to explore the contribution of nine genes involved in oxidative stress, inflammatory and thrombotic processes in 204 subjects with atherothrombosis matched by age and gender with a healthy group ( = 204). To evaluate the possibility of spurious associations owing to the Mexican population genetic heterogeneity as well as its ancestral origins, 300 unrelated mestizo individuals and 329 Native Americans were also included. , , and gene polymorphisms, as well as their multiallelic combinations, were twice to four times more frequent in those individuals with clinical manifestations of atherothrombosis than in the healthy group. Once adjusting for population stratification was done, these differences remained. Our results add further evidence on the contribution of , , and polymorphisms to atherothrombosis development in the middle-aged group, emphasizing the multiethnic studies in search of gene risk polymorphisms.
动脉粥样硬化血栓形成是心血管疾病的基石,也是全球主要死因。脂质代谢、凝血、炎症和氧化应激紊乱的遗传因素增加了其发生和发展的易感性。鉴于其多因素性质,多位点研究已被提议作为易感性的潜在预测指标。进行了一项横断面研究,以探讨参与氧化应激、炎症和血栓形成过程的9个基因在204例动脉粥样硬化血栓形成患者中的作用,这些患者按年龄和性别与健康组(n = 204)匹配。为评估由于墨西哥人群遗传异质性及其祖先起源导致的虚假关联的可能性,还纳入了300名无关的混血个体和329名美洲原住民。在有动脉粥样硬化血栓形成临床表现的个体中,PAI-1、MTHFR、IL-6和TNF-α基因多态性及其多等位基因组合的频率是健康组的两倍至四倍。在对人群分层进行调整后,这些差异仍然存在。我们的结果进一步证明了PAI-1、MTHFR、IL-6和TNF-α多态性对中年人群动脉粥样硬化血栓形成发展的作用,强调了在寻找基因风险多态性方面进行多民族研究的重要性。