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中国汉族人群中rs1122608单核苷酸多态性与急性心肌梗死易感性及临床特征的相关性:一项病例对照研究

Correlation of rs1122608 SNP with acute myocardial infarction susceptibility and clinical characteristics in a Chinese Han population: A case-control study.

作者信息

Chen Quan Fang, Wang Wei, Huang Zhou, Huang Dong Ling, Li Tian, Wang Fan, Li Jun

机构信息

Department of Emergency, The First Affiliated Hospital, Guangxi Medical University; Guangxi-People's Republic of China.

出版信息

Anatol J Cardiol. 2018 Apr;19(4):249-258. doi: 10.14744/AnatolJCardiol.2018.35002.

Abstract

OBJECTIVE

The correlation of the BRG1 rs1122608 single nucleotide polymorphism (SNP) with acute myocardial infarction (AMI) has been reported in American and European populations. However, whether rs1122608 acts as a protective factor or a risk factor for AMI is controversial. In this study, we aimed to detect the associations between rs1122608 and the clinical characteristics of AMI as well as susceptibility, gene-environment interactions, and risk factors for AMI in a Chinese Han population.

METHODS

In this study, 300 AMI patients and 300 healthy controls of Chinese Han ancestry were enrolled. PCR-RFLP was used to genotype rs1122608 SNPs. Genotypic and allelic frequencies of rs1122608 were compared between the AMI and control groups and among four AMI subgroups, which were subdivided by typical symptom, diagnosis time (DT), infarction location andserious complication.

RESULTS

Significant differences were detected between the AMI patients and the controls in both the genotypic and allelic frequencies of rs1122608 (p<0.001 for each). There were also interactions between the subjects with a minor T allele and smoking or alcohol consumption (p<0.001 for each).

CONCLUSION

In the Chinese Han study population, the mutant GT and TT genotypes and minor T allele of rs1122608 were positively correlated with the risk of AMI. For the first time, we discovered that the GT genotype of the rs1122608 SNP is significantly correlated with diagnosis time of AMI. In addition, the interactions between the minor T allele of rs1122608 and smoking or alcohol use and between the rs1122608 CC genotype and alcohol use appear to increase the risk of AMI.

摘要

目的

美国和欧洲人群中已报道BRG1基因rs1122608单核苷酸多态性(SNP)与急性心肌梗死(AMI)的相关性。然而,rs1122608是AMI的保护因素还是危险因素仍存在争议。在本研究中,我们旨在检测rs1122608与中国汉族人群中AMI临床特征、易感性、基因-环境相互作用及AMI危险因素之间的关联。

方法

本研究纳入300例中国汉族AMI患者和300例健康对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对rs1122608 SNP进行基因分型。比较AMI组与对照组以及根据典型症状、诊断时间(DT)、梗死部位和严重并发症划分的四个AMI亚组之间rs1122608的基因型和等位基因频率。

结果

rs1122608的基因型和等位基因频率在AMI患者与对照组之间均存在显著差异(各p<0.001)。携带次要T等位基因的受试者与吸烟或饮酒之间也存在相互作用(各p<0.001)。

结论

在中国汉族研究人群中,rs1122608的突变GT和TT基因型及次要T等位基因与AMI风险呈正相关。我们首次发现rs1122608 SNP的GT基因型与AMI诊断时间显著相关。此外,rs1122608的次要T等位基因与吸烟或饮酒之间以及rs1122608 CC基因型与饮酒之间的相互作用似乎会增加AMI风险。

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