跨膜蛋白63C基因遗传多态性与缺血性脑卒中气虚证显著关联  

Transmembrane protein 63C gene polymorphism significantly associated with Qi deficiency syndrome of ischemic stroke

作　　者：古联[1] 梁宝云 周文君 刘永辉[1] 龙建雄[3] 严雁[1] 朱路路 苏莉[3] GU Lian;LIANG Bao-Yun;ZHOU Wen-Jun(Encephalopathy Section Two,the First Affiliated Hospital of Guangxi University of Chinese Medicine,Nanning 530023,Guangxi,China)

机构地区：[1]广西中医药大学第一附属医院脑病科二区,广西南宁530023 [2]广西中医药大学研究生学院,广西南宁530023 [3]广西医科大学公共卫生学院流行病与卫生统计学教研室 [4]广西医科大学公共卫生学院

出　　处：《中国老年学杂志》2023年第1期15-20,共6页Chinese Journal of Gerontology

基　　金：国家自然科学基金面上项目(81573756,81473670);广西自然科学基金重点项目(2018GXNSFDA050005);广西中医药大学第一附属医院医疗技术团队建设项目(院字[2018]147号)。

摘　　要：目的探索跨膜蛋白(TMEM)63C基因rs383459、rs3813539多态性与缺血性脑卒中(IS)中医证候要素的关联。方法纳入IS患者774例(病例组)、对照组793例,采用MassARRAY SNP基因分型技术进行基因分型检测,参照《中风病辨证诊断标准》的诊断标准进行中医证候分型及诊断,运用HITACHI日立7600全自动生化分析仪测定血脂及血尿酸(UA)水平,分别使用电极阻抗聚集度测定法和凝固法进行血小板(PLT)及凝血功能的测定,通过PLINK软件进行遗传关联分析。结果TMEM63C基因rs383459、rs3813539的基因型频率在IS气虚证与对照组之间的分布差异具有统计学意义(P<0.05)。校正性别、年龄后,rs383459多态性与IS气虚证的发生风险〔加性模型:OR_(adj)(95%CI)=1.46(1.06~2.01),P adj=0.021;隐性模型:OR_(adj)(95%CI)=1.98(1.15~3.41),P adj=0.014;等位基因模型:OR_(adj)(95%CI)=1.46(1.06~2.00),P adj=0.018〕、IS患者的三酰甘油(TG)水平〔隐性模型:β_(adj)(95%CI)=0.19(0.01~0.37),P adj=0.040〕、凝血酶原活动度(PTA)〔隐性模型:β_(adj)(95%CI)=3.79(0.08~7.51),P adj=0.047〕均显著关联;校正性别、年龄后,rs3813539多态性与IS气虚证的易感性〔加性模型:OR_(adj)(95%CI)=1.57(1.09~2.25),P adj=0.015;显性模型:OR_(adj)(95%CI)=1.59(1.02~2.48),P adj=0.043;隐性模型:OR_(adj)(95%CI)=2.48(1.04~5.91),P adj=0.040;等位基因模型:OR_(adj)(95%CI)=1.54(1.08~2.20),P adj=0.017〕、IS气虚证评分〔加性模型:β_(adj)(95%CI)=0.39(0.05~0.74),P adj=0.027〕及IS患者的UA水平〔隐性模型:β_(adj)(95%CI)=-13.39(-26.54~0.23),P adj=0.046;隐性模型:β_(adj)(95%CI)=-39.24(-77.92~-0.55),P adj=0.047〕亦显著关联。结论TMEM63C基因rs383459、rs3813539位点多态性可能影响IS气虚证的发生。Objective To explore the association between polymorphisms of transmembrane protein(TMEM)63C gene rs383459,rs3813539 and traditional Chinese medicine syndromeelements of ischemic stroke(IS).Methods 774 patients(case group)with IS and 793 controls were included.MassARRAY SNP genotyping technique was used to analyze genotype.The classification and diagnosis of traditional Chinese medicine syndromes were carried out according to"Diagnostic standard of Syndrome Differentiation of stroke".Serum lipid and blood uric acid(UA)were determined by HITACHI Hitachi automatic biochemical analyser model 7600.The platelet(PLT)was measured by multiple electrode aggregometry,and the coagulation function measured by coagulation method,genetic association analysis used by PLINK software.Results The genotype frequency of TMEM63C gene rs383459 and rs3813539 was significantly different between IS Qi deficiency syndrome and control group(P<0.05).After adjusting for gender and age,the polymorphism of rs383459 with the risk of IS Qi deficiency syndrome〔additive model:OR_(adj)(95%CI)=1.46(1.06~2.01),P adj=0.021;recessive model:OR_(adj)(95%CI)=1.98(1.15~3.41),P adj=0.014;allele model:OR_(adj)(95%CI)=1.46(1.06~2.00),P adj=0.018〕and the level of triglyceride(TG)in patients with IS〔recessive model:β_(adj)(95%CI)=0.19(0.01~0.37),P adj=0.040〕and prothrombin activity(PTA)〔recessive model:β_(adj)(95%CI)=3.79(0.08~7.51),P adj=0.047〕were significantly associated;after adjusting for gender and age,rs3813539 polymorphism and the susceptibility of IS Qi deficiency syndrome〔additive model:OR_(adj)(95%CI)=1.57(1.09~2.25),P adj=0.015;dominant model:OR_(adj)(95%CI)=1.59(1.02~2.48),P adj=0.043;recessive model:OR_(adj)(95%CI)=2.48(1.04~5.91),P adj=0.040;allele model:OR_(adj)(95%CI)=1.54(1.08~2.20),P adj=0.017〕and IS Qi deficiency syndrome score〔additive model:β_(adj)(95%CI)=0.39(0.05~0.74),P adj=0.027〕and IS UA levels in patients〔additive model:β_(adj)(95%CI)=-13.39(-26.54~0.23),P adj=0.046;recessive model:β_(adj)(95%CI)=-39.24(-77

关 键 词：跨膜蛋白63C 单核苷酸多态性 缺血性脑卒中 证候要素 遗传关联 

分 类 号：R277.7[医药卫生—中医学]