候选基因中的变异及其与吸烟对急性冠状动脉综合征风险的相互作用。
Variants in candidate genes and their interactions with smoking on the risk of acute coronary syndrome.
作者信息
Franco Liliana, Gallego Natalia, Velarde Cristian, Valencia Diana, Pérez-Bedoya Juan Pablo, Betancur Kelly, Marisancen Kelly, Parra Paola, Carvalho Santiago, Parra Luisa, Jiménez Evert, Martínez Carlos, Saldarriaga Clara, Arango Juan Carlos, González-Jaramillo Nathalia, García Jenny, Valencia Ana
机构信息
Facultad de Medicina, Universidad Pontificia Bolivariana, Medellín, Colombia.
Centro de investigaciones, Clínica Cardio VID, Medellín, Colombia.
出版信息
Biomedica. 2025 Mar 28;45(1):107-117. doi: 10.7705/biomedica.7379.
INTRODUCTION
Multiple genetic and environmental factors interact with the development of acute coronary syndrome. Smoking is one of the environmental factors that might alter the metabolic pathways shared by genes associated with this condition.
OBJECTIVE
To investigate the association of acute coronary syndrome with genetic variants related to inflammation, lipid metabolism, and platelet aggregation among subjects from the northeastern region of Colombia. The effects of interactions between polymorphisms and smoking were also evaluated.
MATERIALS AND METHODS
We analyzed data from 330 acute coronary syndrome cases and 430 controls. Associations between 20 polymorphisms and acute coronary syndrome were evaluated using logistic regression, adjusting for confounders. Gene and smoking interaction terms were calculated, and variants were analyzed separately in smokers and non-smokers for their association with acute coronary syndrome.
RESULTS
Two variants were associated with acute coronary syndrome, rs10455872 in the LPA gene (OR = 2.69; 95% CI: 1.61-4.49) and rs429358 in the APOE gene (OR = 1.93; 95% CI: 1.30-2.87). We identified smoking interactions with the variants rs6511720 in the LDLR gene (p = 0.04) and rs2227631 in the SERPINE1 gene (p = 0.02), with significant effects in non-smokers (rs6511720: OR = 0.40; 95% CI: 0.19-0.88; and rs2227631: OR = 0.69; 95% CI: 0.48-1.00), but not in smokers (rs6511720: OR = 1.28; 95% CI: 0.66-2.46; and rs2227631: OR = 1.30; 95% CI: 0.91-1.87).
CONCLUSIONS
Variants in the candidate genes LPA and APOE are associated with an increased risk of acute coronary syndrome in a population from northeastern Colombia. The effects of rs6511720 in LDLR and rs2227631 in SERPINE1 differ according to smoking habits and are significant in non-smokers. These results are helpful for early risk screening of acute coronary syndrome, mainly in individuals without defined conventional risk factors.
引言
多种遗传和环境因素与急性冠状动脉综合征的发生相互作用。吸烟是可能改变与该疾病相关基因共享代谢途径的环境因素之一。
目的
研究哥伦比亚东北部地区人群中急性冠状动脉综合征与炎症、脂质代谢及血小板聚集相关基因变异之间的关联。同时评估多态性与吸烟之间的相互作用影响。
材料与方法
我们分析了330例急性冠状动脉综合征病例和430例对照的数据。使用逻辑回归评估20种多态性与急性冠状动脉综合征之间的关联，并对混杂因素进行校正。计算基因与吸烟的交互项，并分别分析吸烟者和非吸烟者中各变异与急性冠状动脉综合征的关联。
结果
两个变异与急性冠状动脉综合征相关，LPA基因中的rs10455872（OR = 2.69；95% CI：1.61 - 4.49）和APOE基因中的rs429358（OR = 1.93；95% CI：1.30 - 2.87）。我们发现LDLR基因中的rs6511720（p = 0.04）和SERPINE1基因中的rs2227631（p = 0.02）与吸烟存在相互作用，在非吸烟者中有显著影响（rs6511720：OR = 0.40；95% CI：0.19 - 0.88；rs2227631：OR = 0.69；95% CI：0.48 - 1.00），但在吸烟者中无显著影响（rs6511720：OR = 1.28；95% CI：0.66 - 2.46；rs2227631：OR = 1.30；95% CI：0.91 - 1.87）。
结论
候选基因LPA和APOE中的变异与哥伦比亚东北部人群急性冠状动脉综合征风险增加相关。LDLR基因中的rs6511720和SERPINE1基因中的rs2227631的影响因吸烟习惯而异，在非吸烟者中具有显著意义。这些结果有助于急性冠状动脉综合征的早期风险筛查，主要针对无明确传统风险因素的个体。
Zotero 插件