【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缺血性脑卒中(ischemic stroke,IS)的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)和DNA序列测定法检测205例IS及210例对照组E-selectin基因第2外显子G98T、第4外显子A561C(S128R)多态性,同时采用酶联免疫吸附试验(enzyme linked immunosorbent assay,ELISA)检测IS和对照者血清E-selectin水平。结果IS组E-selectin水平显著高于对照组(P<0.01),E-selectin基因S128R基因型频率和等位基因频率在IS组和对照组比较差异有显著性(P<0.05),基因型频率的相对风险分析发现,SR基因型携带者患IS的风险是SS基因型的2.008倍(OR=2.008,95%CI1.144～3.524),SR基因型携带者的E-selectin血清水平显著高于SS基因型[(58.72±16.23)ng/mlvs(50.35±13.76)ng/ml,P<0.01]。E-selectin基因G98T基因型频率和等位基因频率在IS组和对照组之间比较差异无显著性(P>0.05)。结论E-selectin基因S128R多态性与IS的发病具有相关性,R等位基因可能是广西地区壮族人IS发病的遗传易感基因,携带SR基因型的个体可能通过促进E-selectin的高度表达进而增加IS的发病风险。更多还原

【Abstract】 Objective To study the relationship between polymorphisms of E-selectin gene and ischemic stroke (IS) in Zhuang nationality of Guangxi province. 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 and DNA sequencing among 205 patients with IS of Zhuang nationality in Guangxi and 210 healthy controls. The serum level of E-selectin was determined by enzyme-linked immunosorbent assay (ELISA). Results IS group showed significantly higher serum levels of E-selectin than control group (P<0.01). There was significant difference in frequencies of allele and genotype in S128R polymorphism between IS and control groups respectively. The relative risk suffered from IS of SS genotype was 2.008 times of the SR genotype (OR=2.008, 95%CI: 1.144-3.524). The serum E-selectin level was significantly higher among carriers of SR genotype as compared with non-carriers (SS genotype) [(58.72±16.23) ng/ml vs (50.35±13.76)ng/ml, P<0.01]. There was no significant difference in genotype distribution for the E-selectin gene G98T genotype between IS and control groups (P>0.05). Conclusion E-selectin S128R polymorphism was associated with IS, and R allele may be a genetic risk factor of IS among Guangxi Zhuang natioalities, in whom the E-selectin SR genotype carriers maybe increase the risk of ischemic stroke by enhancing the E-selectin expression.更多还原