E-选择素基因多态性与脑梗死的相关性研究  

Link of E-selectin polymorphisms and cerebral infarction

作　　者：韦叶生[1] 刘运广[1] 徐群清[1] 赵邦[1] 蒙兰青[1] 梁丽艳[1] 

机构地区：[1]广西右江民族医学院附属医院临床检验中心,百色533000

出　　处：《医师进修杂志》2005年第1期15-17,21,共4页Journal of Postgraduates of Medicine

基　　金：广西教育厅课题 (2 0 0 42 0 );广西卫生厅课题(Z2 0 0 40 3 7);广西右江民族医学院科研基金资助项目

摘　　要：目的　探讨E -选择素 (E -selectin)基因多态性与广西地区壮族人脑梗死的关系。方法　采用聚合酶链反应 -限制性片段长度多态性 (PCR -RFLP)测定法检测 187例脑梗死及 2 10例对照者E -selectin基因第 2外显子G98T、第 4外显子A5 6 1C多态性 ,同时采用酶联免疫吸附试验 (ELISA)检测脑梗死和对照者血清E -selectin水平。结果　脑梗死组E -selectin血清水平显著高于对照组 (P <0 .0 1) ,E -selectin基因A5 6 1C基因型频率和等位基因频率在脑梗死组和对照组比较差异有显著性 (P <0 .0 5 ) ,对基因型频率的相对风险分析发现 ,AC基因型携带者患脑梗死的风险是AA基因型的 1.96 8倍 (OR =1.96 8,95 %CI:1.10 8～ 3.4 95 ) ,AC基因型携带者的E -selectin血清水平显著高于AA基因型 [(5 9.13± 15 .92 )ng mlvs (5 0 .4 6± 14 .38)ng ml,P <0 .0 1]。结论　E-selectin基因A5 6 1C多态性与脑梗死的发病具有相关性 ,C等位基因可能是广西地区壮族人脑梗死发病的遗传易感基因 ,携带AC基因型的个体可能通过促进E -selectin的高度表达进而增加脑梗死的发病风险。Objective To study the relationship between polymorphisms of E-selectin gene and cerebral infarction in Zhuang nationality of Guangxi area. Methods The G98T polymorphism in the exon 2 and the S128R polymorphism in the exon 4 of E-selectin gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis among 187 patients with cerebral infarction, and 210 healthy controls, and the serum level of E-selectin was determined by enzyme-linked immunosorbent assay (ELISA). Results Cerebral infarction group showed significantly higher in serum levels of E-selectin than control group(P<0.01), There was significant difference in frequencies of allele and genotype in A561C polymorphism between cerebral infarction and control groups respectively. The relative risk suffered from cerebral infarction of AA genotype was 1.968 times of the AC genotype (OR=1.968,95%CI:1.108～3.495), the serum E-selectin level was significantly higher among carriers of AC genotype as compared with non-carriers(AA genotype) [(59.13±15.92) ng/ml vs (50.46±14.38) ng/ml, P<0.01]. Conclusion E-selectin A561C polymorphism is associated with cerebral infarction, and C allele maybe a genetic risk factor of cerebral infarction among Zhuang nationality of Guangxi area. In which the E-selectin AC genotype carriers maybe increase risk by enhancing the E-selectin expression in the pathogenesis of cerebral infarction.

关 键 词：脑梗死 E—selectin E—选择素 基因多态性 携带者 对照组 血清水平 AC基因 外显子 等位基因频率 

分 类 号：R737.14[医药卫生—肿瘤] R743.33[医药卫生—临床医学]