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基因单核苷酸多态性在冠心病患者中的作用

Roles of Single Nucleotide Polymorphisms of Gene in Patients with Coronary Artery Disease.

作者信息

Abudureyimu Shajidan, He Chunhui, Abulaiti Dilihumaer, Xie Wei, Airikenjiang Halisha, Qiu Haitang, Liu Mengjia, Cao Yan, Li Hui, Zhang Jian, Gao Ying

机构信息

Department of Comprehensive Internal Medicine, The First Affiliated Hospital of Xinjiang Medical University, 830011 Urumqi, Xinjiang, China.

Heart Failure Center, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), 100010 Beijing, China.

出版信息

Rev Cardiovasc Med. 2024 Apr 18;25(4):147. doi: 10.31083/j.rcm2504147. eCollection 2024 Apr.

DOI:10.31083/j.rcm2504147
PMID:39076552
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11263995/
Abstract

BACKGROUND

This study aims to investigate the association between nine tag single nucleotide polymorphisms (SNPs) in the gene locus and the risk of coronary artery disease (CAD) as well as lipid levels in the Chinese population, and to further explore the interactions between SNPs and environmental factors that may be associated with CAD risk.

METHODS

A case-control study was conducted to investigate the association between CAD and gene polymorphisms in a hospital setting. The study consisted of 944 CAD patients with a mean age of 55.97 10.182 years and 897 non-CAD controls with a mean age of 55.94 9.162 years. There were 565 males and 288 females in the CAD group and 583 males and 314 females in the control group. TagSNPs in the gene were identified by employing the improved multiplex ligation detection reaction (iMLDR) technique, and multifactor dimensionality reduction (MDR) analysis was utilized to investigate the gene-environment and gene-gene interactions in relation to the risk of CAD.

RESULTS

Results of the polymorphism study indicated that the genotype of was more frequent in the CAD group compared to the control group (10.9% vs 7.7%), with a statistically significant difference ( = 0.009). Moreover, the and genotype groups of in the CAD subgroup showed a significant difference in terms of serum triglyceride levels (2.326 1.889 vs 2.059 1.447, = 0.019). Analysis of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), apolipoprotein A (ApoA), and apolipoprotein B (ApoB) levels revealed no significant differences between the and genotypes. Furthermore, no significant differences in serum lipid levels were observed between genotypes of the other SNPs. Multivariable logistic analysis, controlling for gender, age, body mass index (BMI), triglycerides (TG), TC, HDL-C, LDL-C, ApoA and ApoB, demonstrated that was still an independent risk factor of CAD (OR = 1.499, 95% CI: 1.036-2.168, = 0.032). MDR analysis revealed that the interacted significantly with environmental factors such as smoking, diabetes, hypertension, BMI, and TG ( 0.05).

CONCLUSIONS

The variation of the gene could be linked to both lipid balance and the risk of CAD. It is conceivable that the interplay between polymorphisms and environmental elements could account for the etiology of CAD.

摘要

背景

本研究旨在调查基因位点中的9个标签单核苷酸多态性(SNP)与中国人群冠状动脉疾病(CAD)风险以及血脂水平之间的关联,并进一步探索SNP与可能与CAD风险相关的环境因素之间的相互作用。

方法

在医院环境中进行了一项病例对照研究,以调查CAD与基因多态性之间的关联。该研究包括944例CAD患者,平均年龄为55.97±10.182岁,以及897例非CAD对照,平均年龄为55.94±9.162岁。CAD组中有565名男性和288名女性,对照组中有583名男性和314名女性。采用改进的多重连接检测反应(iMLDR)技术鉴定基因中的标签SNP,并利用多因素降维(MDR)分析来研究与CAD风险相关的基因-环境和基因-基因相互作用。

结果

多态性研究结果表明,与对照组相比,CAD组中基因的基因型更为常见(10.9%对7.7%),差异具有统计学意义(P = 0.009)。此外,CAD亚组中基因的和基因型组在血清甘油三酯水平方面存在显著差异(2.326±1.889对2.059±1.447,P = 0.019)。对总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)。高密度脂蛋白胆固醇(HDL-C)、载脂蛋白A(ApoA)和载脂蛋白B(ApoB)水平的分析显示,和基因型之间没有显著差异。此外,其他SNP的基因型之间在血清脂质水平上未观察到显著差异。在控制性别、年龄、体重指数(BMI)、甘油三酯(TG)、TC、HDL-C、LDL-C、ApoA和ApoB的多变量逻辑分析表明,仍然是CAD的独立危险因素(OR = 1.499,95%CI:1.036 - 2.168,P = 0.032)。MDR分析显示,与吸烟、糖尿病、高血压、BMI和TG等环境因素存在显著相互作用(P < 0.05)。

结论

基因的变异可能与脂质平衡和CAD风险均有关联。可以想象,基因多态性与环境因素之间的相互作用可能是CAD病因的原因。

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