CMTM5基因rs723840单核苷酸多态性与阿司匹林治疗下血小板高反应性的相关性研究

目的:探讨趋化素样因子超家族成员5 ( CKLF-like MARVEL transmembrane member 5, CMTM5 )基因rs723840单核苷酸多态性与阿司匹林治疗下血小板高反应性的相关关系. 方法:采用临床单组观察试验研究设计方法,共入选210例北京大学第一医院老年内科住院患者,采用光学比浊法测定0. 5 g/L花生四烯酸( arachidonic acid,AA)诱导的血小板聚集率(platelet aggregation ratio,PR),阿司匹林治疗下血小板高反应性(high on aspirin platelet reactivity,HAPR)定义为PR≥3/4 PR界值. 将入选患者按照PR分为HAPR组和非血小板高反应性组( No-HAPR). 采用焦磷酸测序法测定CMTM5基因rs723840单核苷酸多态性在HAPR组和No-HAPR组的基因型及等位基因分布频率,采用卡方检验统计分析基因型与等位基因在两组间的差异. 结果:CMTM5基因rs723840多态在两组间基因型分布频率皆符合Hardy-Weinberg平衡定律,3种基因型( CC型、CT型和TT型)分布频率在HAPR组和No-HAPR组分别为48. 4%、51. 6%、0. 0%和73. 7%、22. 9%、0. 034%, 3种基因型在两组间分布频率差异存在统计学意义(P=0. 004),C、T等位基因分布频率在两组间差异亦有统计学意义(P=0. 031,OR=2. 002,95% CI:1. 056~3. 793). Logistic回归校正了年龄、性别、体重指数、吸烟、高血压、糖尿病及高脂血症等冠心病易患因素后, CMTM5基因rs723840单核苷酸多态性仍与冠心病患者HAPR的发生存在显著相关性. 结论:CMTM5基因单核苷酸多态位点rs723840与冠心病患者血小板高反应性发生存在显著相关性.

Association between CMTM5 gene rs723840 single nucleotide polymorphism and high on asprin platelet reactivity

Objective: To elucidate the correlation between the single nucleotide polymorphism of CKLF-like MARVEL transmembrane member 5 ( CMTM5 ) gene rs723840 and the occurrence of high on aspirin platelet reactivity ( HAPR) . Methods:The present study is a case-control study. A total of 210 hospitalized patients in Peking University First Hospital were enrolled. Aspirin response was assessed by 0. 5 g/L arachidonic acid (AA)-induced platelet aggregation ratio (PR), and ≥3/4 quartile of PR of the population was defined as HAPR. Accordingly all the enrolled 210 coronary artery diseases ( CAD) patients were divided into HAPR group and No-HAPR group. The genotypes were determined by poly-merase chain reaction ( PCR) and sequencing analysis for rs723840 of CMTM5 gene. Results:The geno-type frequencies in rs723840 C>T of CMTM5 gene conformed well to the Hardy-Weinberg equilibrium in both HAPR group and No-HAPR group. Between the two groups, the genotypes frequencies in HAPR and No-HAPR groups were 48 . 4%, 51 . 6%, 0 . 0% and 73 . 7%, 22 . 9%, 0 . 034%, respectively ( P=0. 004). The C, T allele frequencies were significantly different in the two groups (P =0. 031,OR =0 . 501 , 95%CI:0 . 264-0 . 947 ) . Conclusion:Our study finds a significant correlation between CMTM5 gene rs723840 polymorphism and high on aspirin platelet reactivity.