摘要
目的研究E-选择素（E-selectin）基因多态性与北方汉族人群脑血栓形成的关系。方法应用聚合酶链反应限制性片段长度多态性（PcR—RFLP）技术检测120例脑血栓形成患者和102例健康体检者的E-选择素基因型；生化技术测定血脂、血糖水平；酶联免疫吸附试验（ELISA）检测血清E-选择素水平。结果E-选择素S128R．基因型在2组中的分布差异有显著性（χ^2=6．39，P〈0．05），基因型频率的相对风险分析，SR基因型患脑血栓形成的风险是ss基因型的3．05倍，（OR=3．05，95％CI：1．29-7．20）；等位基因频率在2组中差异也有显著性（χ^2=5．94，P〈0．05，OR=2．84，95％CI：1．23--6．55）。结论E—selectin基因$128R多态性与脑血栓形成的发病具有相关性，R等位基因可能是北方汉族人脑血栓形成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脑血栓形成的发病风险。
[Objective] To study the relationship between polymorphisms of E-selecfin gene and cerbral thrombosis in Han nationality of Liaoning province. [Methods] 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 120 patients with cerbral thrombosis of Han nationality in Liaoning and 102 healthy controls. The effects of E-selectin genotypes on serum lipids, serum glucose variation were analyzed. The serum level of E-selectin was determined by enzyme-linked immunosorbent assay （ELISA）. [Results] There was significant difference in frequencies of allele and genotype in S128R polymorphism between cerbral thrombosis and control groups respectively （χ^2=6.39, P 〈0.05）. The relative risk suffered from cerbral thrombosis of SR genotype was 3.05 times of the SS genotype （OR=3.05, 95%CI： 1.29-7.20）. Allele frequency in SS and SR is also significant difference （χ^2=5.94,P 〈 0.05, OR=2.84, 95%CI： 1.23-6.55）. [Conclusions] E-seleetin S128R polymorphism was associated with cerbral thrombosis, and R allele may be a genetic risk factor of cerbral thrombosis among Han nationality, in whom the E-selectin SR genotype carriers maybe increase the risk of cerbral thrombosis by enhancing the E-seleetin expression.
出处
《中国现代医学杂志》
CAS
CSCD
北大核心
2009年第13期1989-1991,1997,共4页
China Journal of Modern Medicine
基金
辽宁省自然科学基金(No:20082179)
