CYP2C19基因多态性与心力衰竭患病及预后的相关性研究  

Correlation between CYP2C19 gene polymorphism and heart failure pathogenesis and prognosis

作　　者：永佳蕙 陶静[1,2] 丽霞 王凯阳[1,2] 杨毅宁 YONG Jiahui;TAO Jing;LI Xia;WANG Kaiyang;YANG Yining(Department of Cardiology,People’s Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830000,P.R.China;Xinjiang Key Laboratory of Cardiovascular Homeostasis and Regeneration Research,Urumqi 830000,P.R.China;Department of Radiology,People’s Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830011,P.R.China)

机构地区：[1]新疆维吾尔自治区人民医院心血管内科,乌鲁木齐830000 [2]新疆心脏血管稳态与再生医学研究重点实验室,乌鲁木齐830000 [3]新疆维吾尔自治区人民医院放射科,乌鲁木齐830000

出　　处：《华西医学》2024年第9期1398-1405,共8页West China Medical Journal

基　　金：新疆维吾尔自治区“科技创新领军人才项目—高层次领军人才”项目(2022TSYCLJ0028);新疆维吾尔自治区人民医院院内项目(20230201)。

摘　　要：目的探讨CYP2C19基因多态性与心力衰竭患病及预后的相关性。方法选择2021年6月—2022年12月期间就诊于新疆维吾尔自治区人民医院心血管内科并行基因组学检测的1368例患者。在对基因型数据进行质量控制后,依据诊断标准将患者分为缺血性心衰组和非心衰组。采用TaqMan-SNP基因分型技术对31个基因和62个单核苷酸多态性进行基因分型,比较了两组患者在等位基因分布与临床指标中的差异,并对缺血性心衰组患者心血管不良事件发生率进行随访。结果共纳入1352例患者。其中,缺血性心衰组169例和非心衰组1183例。在CYP2C19基因的rs12769205位点,患者携带等位基因G时的患病风险低于携带等位基因A(比值比=0.733,P=0.023)。控制混杂因素后,年龄、冠心病、体质量指数、与等位基因类型是心力衰竭的独立影响因素(P<0.05)。2个突变等位基因携带者的心肌肌钙蛋白T水平高于1个突变等位基因携带者(P=0.044)与野生型等位基因携带者(P=0.028)。随访期间,rs12769205位点的3种基因型之间在主要心血管不良事件的累积发生率上未见差异。结论CYP2C19基因的rs12769205多态性位点与心力衰竭的发生具有相关性,这可能为心力衰竭的诊断与治疗提供理论依据。Objective To investigate the correlation between CYP2C19 gene polymorphisms and the incidence and prognosis of heart failure.Methods 1368 patients who underwent parallel genomic testing and visited the Department of Cardiology at the People’s Hospital of Xinjiang Uygur Autonomous Region between June 2021 and December 2022 were selected.After quality control of genotype data,the patients were divided into a heart failure group and a control group based on diagnostic criteria.Genotyping of 31 genes and 62 single nucleotide polymorphism(SNPs)was performed using TaqMan-SNP genotyping technology.Differences in allele distribution and clinical indicators between the two groups were compared,and the incidence of cardiovascular adverse events in the heart failure group was followed up and calculated.Results A total of 1352 patients were included.Among them,there were 169 cases in the heart failure group and 1183 cases in the control group.At the rs12769205 locus of the CYP2C19 gene,the risk of disease for patients carrying the G allele was lower than those carrying the A allele(odds ratio=0.733,P=0.023).In addition to age,coronary heart disease,BMI,and the type of allele was also an independent influencing factor for heart failure(P<0.05).Moreover,the level of cardiac troponin T in carriers of two mutant alleles was significantly higher than in carriers of one mutant allele(P=0.044)and in carriers of the wild-type allele(P=0.028).During the follow-up period,no significant differences were observed in the cumulative incidence of major cardiovascular adverse events among the three genotypes at the rs12769205 locus.Conclusion The polymorphic locus rs12769205 of the CYP2C19 gene is associated with the occurrence of heart failure,which may provide a theoretical basis for the diagnosis and treatment of heart failure.

关 键 词：心力衰竭 CYP2C19 基因多态性 基因组分析 

分 类 号：R541.6[医药卫生—心血管疾病]