摘要
目的探讨趋化素样因子超家族成员5(CMTM5)基因rs723840单核苷酸多态性与冠心病(CAD)发生风险的关系。方法选取2016年8月—2017年12月在首都医科大学附属北京世纪坛医院心血管内科住院治疗的患者1110例,经冠状动脉造影检查后根据是否诊断为CAD分为CAD组(560例)和对照组(550例)。采用焦磷酸测序法测定两组的CMTM5基因rs723840单核苷酸多态性基因型及等位基因分布频率。比较两组基因型及等位基因的分布差异,并分析CAD的易患因素。结果两组CMTM5基因rs723840位点的基因型分布符合Hardy-Weinberg平衡定律,三种基因型(CC、CT、TT型)的分布频率在CAD组分别为53.9%、40.9%、5.2%,在对照组分别为69.3%、28.7%、2.0%,差异有统计学意义(P<0.05)。T等位基因的分布频率高于C等位基因(25.6%vs.16.4%),携带T等位基因者罹患CAD的概率是携带C等位基因者的1.566倍(95%CI 1.325~1.850,P<0.001)。Logistic回归分析结果提示,CMTM5基因rs723840单核苷酸多态性是发生CAD的危险因素。结论CMTM5基因单核苷酸多态位点rs723840与CAD的发生风险存在明显相关性,携带T等位基因者发生CAD的风险较高。
Objective To elucidate the correlation between the single nucleotide polymorphism ofCKLF-like MARVEL transmembrane domain containing member 5(CMTM5)gene rs723840 and the occurrence of coronary artery disease(CAD).Methods The present study is a case-control study.A total of 1110 hospitalized patients in Shijitan Hospital were enrolled in this study.Patients were divided into CAD group(n=560)and control group(n=550).CAD were diagnosed by coronary angiography,which was defined as at least one blood vessel diameter stenosis≥50%according to the result of coronary angiography.Genotypes were determined by polymerase chain reaction(PCR)and using sequencing analysis to detect rs723840 of CMTM5 gene.The proportions of genotype and allele of CMTM5 gene were analyzed.Results The genotype frequencies in rs723840 C>T of CMTM5 gene conformed well to the Hardy-Weinberg equilibrium in both CAD group and control group.Between the two groups,the genotypes frequency(CC,CT and TT)in CAD and control groups were 53.9%,40.9%,5.2%and 69.3%,28.7%,2.0%,respectively(P<0.001).T allele frequency was significantly higher than that in C allele frequency(25.6%vs.16.4%,OR=1.566,95%CI 1.325-1.850,P<0.001).After adjusted for the risk factors of age,gender,BMI,smoking,hypertension,diabetes and hyperlipidemia,logistic regression analysis results indicated that CMTM5 was the susceptibility factors of CAD,which showed significant correlation with CAD.Conclusions A significant correlation was found between CMTM5 gene rs723840 polymorphism and the occurrence of CAD,T allele carriers are closely related to the occurrence of CAD.
作者
刘滕飞
周迎
任利辉
叶慧明
雷力成
彭建军
李广平
LIU Teng-fei;ZHOU Ying;REN Li-hui;YE Hui-ming;LEI Li-cheng;PENG Jian-jun;LI Guang-ping(Department of Cardiology,Shijitan Hospital Affiliated to Capital Medical University,Beijing 100034,China)
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2019年第10期862-865,共4页
Medical Journal of Chinese People's Liberation Army
基金
中国铁路总公司科技研究开发计划课题(J2017Z608)
首都医科大学附属北京世纪坛医院院青年基金(2017-q27)~~
关键词
冠心病
趋化素样因子超家族成员5
多态性
单核苷酸
coronary disease
CKLF-like MARVEL transmembrane domain containing member 5
polymorphism,single nucleotide