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rs1746048单核苷酸多态性对广西汉族人群急性心肌梗死临床表现及发病率的影响。

Influence of rs1746048 SNPs on clinical manifestations and incidence of acute myocardial infarction in Guangxi Han population.

作者信息

Wang Fan, Wang Wei, Qin Shouming, Chen Quanfang, Huang Zhou, Huang Dongling, Li Tian, Li Jun, Sun Zhongyi, Liu Xuefeng, Zeng Xiangtao, Ning Zong, Liao Yuanli

机构信息

Graduate School, Guangxi Medical University Nanning, Guangxi, People's Republic of China.

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

出版信息

Int J Clin Exp Pathol. 2019 Jan 1;12(1):282-294. eCollection 2019.

Abstract

A relationship of the gene rs1746048 SNPs with AMI has been reported in American, European, Caucasian, and Pakistani populations. However, little is known about this association in the Guangxi Han population. In this study, we detect associations between rs1746048 SNPs and susceptibility, risk factors, clinical characteristics, and gene-environment interactions for AMI. 300 AMI patients and 300 healthy controls of Chinese Han were enrolled. Genotyping of rs1746048 SNPs was performed using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) and then confirmed by direct sequencing. Significant differences in both genotypic and allelic frequencies of rs1746048 SNPs between AMI and the control group were not detected ( > 0.05 for each). The frequency of CC genotypes of rs1746048 SNPs was the highest in the 2 h < DT ≤ 6 h subgroup ( < 0.05). The frequencies of the CT genotype and the T allele were significantly higher in the severe complications subgroup of AMI ( < 0.05). There were interactions between the subjects with rs1746048 SNPs and smoking or alcohol consumption ( < 0.017 for each). Rs1746048 SNPs were not correlated with the risk of AMI in present study. For the first time, we discovered that the CC genotype of the rs1746048 SNPs was significantly correlated with DT of AMI; the frequencies of the CT genotype and the minor T allele were positively correlated with the severe complications of AMI. Also, the interaction between the rs1746048 SNPs and smoking or alcohol appears to increase the risk of AMI exposure.

摘要

在美国、欧洲、白种人和巴基斯坦人群中,已报道了基因rs1746048单核苷酸多态性(SNPs)与急性心肌梗死(AMI)的关系。然而,关于广西汉族人群中的这种关联知之甚少。在本研究中,我们检测了rs1746048 SNPs与AMI易感性、危险因素、临床特征以及基因-环境相互作用之间的关联。纳入了300例中国汉族AMI患者和300例健康对照。使用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)对rs1746048 SNPs进行基因分型,然后通过直接测序进行确认。未检测到AMI组与对照组之间rs1746048 SNPs的基因型和等位基因频率存在显著差异(各P>0.05)。rs1746048 SNPs的CC基因型频率在2小时<D(发病至球囊扩张时间)≤6小时亚组中最高(P<0.05)。AMI严重并发症亚组中CT基因型和T等位基因的频率显著更高(P<0.05)。rs1746048 SNPs的受试者与吸烟或饮酒之间存在相互作用(各P<0.017)。在本研究中,rs1746048 SNPs与AMI风险无关。我们首次发现,rs1746048 SNPs的CC基因型与AMI的D显著相关;CT基因型和次要T等位基因的频率与AMI的严重并发症呈正相关。此外,rs1746048 SNPs与吸烟或饮酒之间的相互作用似乎增加了AMI暴露的风险。

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