Supplementary Tables from <i>ALOX5</i>, <i>LPA</i>, <i>MMP9</i> and <i>TPO</i> gene polymorphisms increase atherothrombosis susceptibility in middle-aged Mexicans

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 (<i>n</i> = 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. <i>ALOX5</i>, <i>LPA</i>, <i>MMP9</i> and <i>TPO</i> 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 <i>ALOX5</i>, <i>LPA</i>, <i>MMP9</i> and <i>TPO</i> 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（atherothrombosis）是心血管疾病的核心病理基础，亦是全球范围内致死的首要原因。脂代谢紊乱、凝血功能异常、炎症反应及氧化应激的遗传易感性，会增加其发生与进展的风险。鉴于其多因素致病的特性，多位点研究被提出作为疾病易感性的潜在预测指标。本研究开展了一项横断面研究，旨在探究参与氧化应激、炎症及血栓形成过程的9个基因在204名动脉粥样硬化血栓形成患者中的作用；该组患者按年龄与性别匹配了204名健康对照个体（n=204）。为评估因墨西哥人群遗传异质性及其祖先起源所导致的假关联风险，本研究同时纳入了300名无亲缘关系的梅斯蒂索（mestizo）个体与329名美洲原住民。与健康对照组相比，动脉粥样硬化血栓形成患者中，ALOX5、LPA、MMP9及TPO基因多态性及其多等位基因组合的出现频率高出2至4倍。在校正人群分层后，上述差异依然显著。本研究结果进一步为ALOX5、LPA、MMP9及TPO基因多态性与中年人群动脉粥样硬化血栓形成发生的相关性补充了证据，强调了多民族研究在探寻疾病风险基因多态性中的重要意义。