血栓素A2受体基因启动子多态性在急性脑梗死中的作用
혈전소A2수체기인계동자다태성재급성뇌경사중적작용
The role of thromboxane A2 receptor gene promoter polymorphism in acute cerebral infarction
  • 万方数据
    中华危重病急救医学 중화위중병급구의학
    Chinese Critical Care Medicine
    2014年 5期 309-314 ,共6页

    王云玲%毛玲群%林宝妹%张叶青%陶涛涛%齐玉祥%林霞%金皎蕾%黄睿

    왕운령%모령군%림보매%장협청%도도도%제옥상%림하%금교뢰%황예

    脑梗死,急性%血栓素A2受体%基因多态性%rs2271875位点%rs768963位点 腦梗死,急性%血栓素A2受體%基因多態性%rs2271875位點%rs768963位點
    뇌경사,급성%혈전소A2수체%기인다태성%rs2271875위점%rs768963위점
    Acute cerebral infarction%Thromboxane A2 receptor%Gene polymorphism%rs768963 gene%rs2271875 gene
    目的 探讨中国汉族人群血栓素A2受体(TXA2R)基因启动子m2271875、m768963位点的多态性与急性脑梗死的关系.方法 采用前瞻性研究方法,选择2009年10月至2013年5月浙江省台州市中心医院223例脑梗死患者(脑梗死组)及142例门诊体检正常者(健康对照组).采用酶比色法检测甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C);采用己糖激酶法测定血糖;采用聚合酶链反应-连接酶检测反应(PCR-LDR)技术检测TXA2R基因启动子rs2271875、rs768963位点多态性的基因型.比较两组在性别、年龄、血清TG、TC、HDL-C、LDL-C、血糖水平及收缩压、舒张压方面的差异;比较两组TXA2R基因启动子m2271875、rs768963基因型、等位基因频率的分布差异.结果 脑梗死组男性例数(例:147比57,x2=23.385,P=0.000)、血清TG(mmol/L:2.02±1.14比1.56±0.79,t=4.663,P=0.000)、血糖(mmol/L:6.40±2.50比5.28±0.92,t=6.084,P=0.000)、收缩压[mmHg(1 mmHg=0.133 kPa):146.64±21.34比135.73±18.09,t=5.234,P=0.000]、舒张压(mmHg:86.29±11.79比80.74±11.23,t=4.468,P=0.000)与健康对照组比较差异均有统计学意义.Logistic多元逐步回归分析显示,男性是脑梗死的危险因素[优势比(OR)=3.300,95％可信区间(95％ CI) 1.905 ～ 5.175,P=0.000].与健康对照组相比,脑梗死组TxA2R基因rs768963基因型(TT:0.112比0.183,TC:0.498比0.535,CC:0.390比0.282,x 2=6.298,P=0.043)及等位基因频率(T:0.361比0.451,C:0.639比0.549,x 2=5.839,P=0.016)分布差异有统计学意义;而rs2271875位点基因型(GG:0.336比0.352,GA:0.480比0.451,AA:0.184比0.197,x2=0.302,P=0.859)及等位基因频率(G:0.576比0.577,A:0.424比0.423,x2=0.001,P=0.974)分布差异无统计学意义.rs2271875与rs768963的连锁不平衡系数(D’)为0.684.rs2271875(A)与rs768963(T)配对呈单倍型AT时,在脑梗死组中的出现频率明显低于健康对照组(0.034比0.081,x2=7.883,P=0.005).结论 rs768963位点的基因突变与急性脑梗死的发生有显著相关性,而m2271875位点的基因突变与急性脑梗死的发生没有显著相关性;并且TXA2R基因rs2271875与rs768963之间存在较松散连锁不平衡的关系,单倍型AT能使急性脑梗死的发病风险减少.
    목적 탐토중국한족인군혈전소A2수체(TXA2R)기인계동자m2271875、m768963위점적다태성여급성뇌경사적관계.방법 채용전첨성연구방법,선택2009년10월지2013년5월절강성태주시중심의원223례뇌경사환자(뇌경사조)급142례문진체검정상자(건강대조조).채용매비색법검측감유삼지(TG)、총담고순(TC)、고밀도지단백담고순(HDL-C)、저밀도지단백담고순(LDL-C);채용기당격매법측정혈당;채용취합매련반응-련접매검측반응(PCR-LDR)기술검측TXA2R기인계동자rs2271875、rs768963위점다태성적기인형.비교량조재성별、년령、혈청TG、TC、HDL-C、LDL-C、혈당수평급수축압、서장압방면적차이;비교량조TXA2R기인계동자m2271875、rs768963기인형、등위기인빈솔적분포차이.결과 뇌경사조남성례수(례:147비57,x2=23.385,P=0.000)、혈청TG(mmol/L:2.02±1.14비1.56±0.79,t=4.663,P=0.000)、혈당(mmol/L:6.40±2.50비5.28±0.92,t=6.084,P=0.000)、수축압[mmHg(1 mmHg=0.133 kPa):146.64±21.34비135.73±18.09,t=5.234,P=0.000]、서장압(mmHg:86.29±11.79비80.74±11.23,t=4.468,P=0.000)여건강대조조비교차이균유통계학의의.Logistic다원축보회귀분석현시,남성시뇌경사적위험인소[우세비(OR)=3.300,95％가신구간(95％ CI) 1.905 ～ 5.175,P=0.000].여건강대조조상비,뇌경사조TxA2R기인rs768963기인형(TT:0.112비0.183,TC:0.498비0.535,CC:0.390비0.282,x 2=6.298,P=0.043)급등위기인빈솔(T:0.361비0.451,C:0.639비0.549,x 2=5.839,P=0.016)분포차이유통계학의의;이rs2271875위점기인형(GG:0.336비0.352,GA:0.480비0.451,AA:0.184비0.197,x2=0.302,P=0.859)급등위기인빈솔(G:0.576비0.577,A:0.424비0.423,x2=0.001,P=0.974)분포차이무통계학의의.rs2271875여rs768963적련쇄불평형계수(D’)위0.684.rs2271875(A)여rs768963(T)배대정단배형AT시,재뇌경사조중적출현빈솔명현저우건강대조조(0.034비0.081,x2=7.883,P=0.005).결론 rs768963위점적기인돌변여급성뇌경사적발생유현저상관성,이m2271875위점적기인돌변여급성뇌경사적발생몰유현저상관성;병차TXA2R기인rs2271875여rs768963지간존재교송산련쇄불평형적관계,단배형AT능사급성뇌경사적발병풍험감소.
    Objective To investigate the association between thromboxane A2 receptor (TXA2R) gene promoter rs2271875,rs768963 polymorphism and acute cerebral infarction in Chinese Han population.Methods A prospective study was conducted.From October 2009 to May 2013,223 patients with cerebral infarction (cerebral infarction group) and 142 cohorts with normal physical examination resuhs (control group) from Taizhou City Central Hospital in Zhejiang Province were enrolled.Triglyceride (TG),total cholesterol (TC),high density lipoprotein cholesterol (HDL-C) and low density lipoprotein cholesterol (LDL-C) were determined by enzymatic colorimetry,whereas blood glucose was determined with hexokinase.The genotypes of rs2271875 and rs768963 polymorphism in TXA2R gene were detected by the polymerase chain reaction-ligase detection reaction (PCR-LDR) technique.Differences in gender,age,serum TG,TC,HDL-C,LDL-C,concentration of blood glucose,and blood pressure (systohc pressure,diastolic pressure) between cerebral infarction group and control group were compared as well as TXA2R promoter rs2271875,rs768963 genotype and allele frequencies distribution.Results The significant differences in males(cases:147 vs.57,x2=23.385,P=0.000),serum TG (mmol/L:2.02 ± 1.14 vs.1.56 ± 0.79,t=4.663,P=0.000),blood glucose (mmol/L:6.40 ± 2.50 vs.5.28 ±0.92,t=6.084,P=0.000),systolic pressure [mmHg (1 mmHg=0.133 kPa):146.64 ± 21.34 vs.135.73 ± 18.09,t=5.234,P=0.000],diastolic blood pressure (mmHg:86.29 ± 11.79 vs.80.74 ± 11.23,t=4.468,P=0.000) between cerebral infarction patients and controls were found.The results from multi-logistic regression analysis suggested that male was an independent risk factor for cerebral infarction [odds ratio (OR) 3.300,95％ confidence interval (95％CI) 1.905-5.175,P=0.000].There were statistically significant differences between infarction group and the control group both in aspects of genotype (TT:0.112 vs.0.183,TC:0.498 vs.0.535,CC:0.390 vs.0.282,x2=6.298,P=0.043)and the allele frequency distribution (T:0.361 vs.0.451,C:0.639 vs.0.549,x2=5.839,P=0.016) of TXA2R gene rs768963.No statistical significant difference was found in rs2271875 in respect of genotype (GG:0.336 vs.0.352,GA:0.480 vs.0.451,AA:0.184 vs.0.197,x2=0.302,P=0.859) and the allele frequency distribution (G:0.576 vs.0.577,A:0.424 vs.0.423,x2=0.001,P=0.974).Coefficient of both linkage disequilibrium (D′) of rs2271875 and rs768963 was 0.684.When the pair was haplotype AT,the frequency in the infarction group was significantly lower than that in the control group (0.034 vs.0.081,x2 =7.883,P=0.005).Conclusions rs768963 gene mutation,but not that of the rs2271875,showed significant correlation with the occurrence of cerebral infarction.There was a loose linkage disequilibrium between rs2271875 and rs768963 of TXA2R.Haplotype AT reduces the risk of cerebral infarction.
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