CRNKL1基因rs12624987多态性与缺血性中风痰证及其凝血指标显著关联  

Rs12624987 polymorphism of CRNKL1 gene is significantly associated with phlegm syndrome ofischemic stroke

作　　者：古联[1] 杨怡冰 苏莉[3] 朱路路 李金玲 罗伟生[2] GU Lian;YANG Yibing;SU Li;ZHU Lulu;LI Jinling;LUO Weisheng(First Affiliated Hospital of the Guangxi University of Chinese Medicine,Nanning 530023,Guangxi,China;Guangxi University of Chinese Medicine,Nanning 530001,Guangxi,China;School of Public Health,Guangxi Medical University,Nanning 530021,Guangxi,China)

机构地区：[1]广西中医药大学第一附属医院,广西南宁530023 [2]广西中医药大学,广西南宁530001 [3]广西医科大学公共卫生学院,广西南宁530021

出　　处：《中华中医药学刊》2023年第9期1-5,共5页Chinese Archives of Traditional Chinese Medicine

基　　金：国家自然科学基金项目(82160849,81573756);广西自然科学基金项目(2018JJD140015)。

摘　　要：目的 探索曲颈前mRNA剪接因子1(crooked neck pre-mRNA splicing factor 1,CRNKL1)基因rs12624987多态性与中国汉族人群缺血性中风(ischemic stroke, IS)及其中医证候的关联。方法 纳入缺血性中风患者774例、健康对照者793例。使用Massarray技术进行基因分型。采用《中风病辨证诊断标准》对IS患者进行中医证候诊断。运用PLINK软件进行遗传关联分析。结果 CRNKL1基因rs12624987多态性与缺血性中风痰证发生风险显著相关[加性模型:ORadj(95%CI)=1.25(1.04~1.50),P_(adj)=0.017;隐性模型:ORadj(95%CI)=1.50(1.06~2.12),P_(adj)=0.022],且与IS患者痰证评分显著相关(隐性模型:P_(adj)=0.009)。另外,rs12624987多态性与IS痰证患者的活化部分凝血活酶时间(activated partial thromboplastin time, APTT)(加性模型:P_(adj)=0.004;显性模型:P_(adj)=0.006)、凝血酶原时间活动度(prothrombin time activity, PTA)(隐形模型:P_(adj)=0.044)的相关性具有统计学意义。结论 CRNKL1基因rs12624987多态性可能通过影响凝血功能而影响缺血性中风痰证的发生。Objective To explore the association between rs12624987 polymorphism of CRNKL1(crooked neck pre-mRNA splicing factor 1,CRNKL1)gene and ischemic stroke(IS)and its TCM syndromes in Chinese Han population.Methods:A total of 774 patients with ischemic stroke and 793 controls were enrolled.Genotyping was performed using Massarray technology.TCM syndrome diagnosis of IS patients was made by using the"Stroke Syndrome Differentiation and Diagnosis Criteria".PLINK software was used for genetic association analysis.Results:Rs12624987 polymorphism of CRNKL1 gene was significantly associated with the risk of sputum syndrome of ischemic stroke[additive model:ORadj(95%CI)=1.25(1.04~1.50),P_(adj)=0.017;recessive model:ORadj(95%CI)=1.50(1.06~2.12),P_(adj)=0.022].And rs12624987 was significantly correlated with the sputum syndrome score of IS patients[recessive model:P_(adj)=0.009].In addition,rs12624987 polymorphism was significantly correlated with activated partial prothrombin time(APTT)[additive model:P_(adj)=0.004;dominant model:P_(adj)=0.006]and prothrombin time activity(PTA)[recessive model:P_(adj)=0.044]in patients with IS phlegm syndrome.Conclusion:Rs12624987 polymorphism of CRNKL1 gene may affect the occurrence of sputum syndrome of ischemic stroke by affecting coagulation function.

关 键 词：CRNKL1 单核苷酸多态性 缺血性中风 中医证候 痰证 

分 类 号：R255.2[医药卫生—中医内科学]