细胞间黏附分子1基因K469E多态性与广西壮族人群缺血性脑卒中的遗传易感性

Intercellular adhesion molecule-1 gene K469E polymorphism an d genetic susceptibility of ischemic stroke in Chinese Zhuang populations

目的探讨细胞间黏附分子1(intercellularadhesionmolecule1,ICAM1)基因多态性与广西地区壮族人群缺血性脑卒中(ischemicstroke,IS)的关系。方法采用聚合酶链反应限制性片段长度多态性和DNA序列测定法检测205例IS及210名对照者ICAM1基因第6外显子K469E多态性,同时采用酶联免疫吸附试验检测IS和对照者血清ICAM1水平。结果IS组ICAM1血清水平显著高于对照组(P<0.01),ICAM1基因K469E基因型频率和等位基因频率在IS组和对照组比较差异有统计学意义(P<0.05),等位基因频率的相对风险分析发现,E等位基因携带者患IS的风险是K等位基因的1.424倍(OR=1.424,95%CI:1.071～1.894),携带E等位基因的IS患者ICAM1血清水平显著高于不携带者[(501.24±139.56)ng/mlvs(475.17±118.35)ng/ml,P<0.01]。结论ICAM1基因K469E多态性与IS的发病具有相关性,E等位基因可能是广西地区壮族人群IS发病的遗传易感基因,携带E等位基因的个体可能通过促进ICAM1的高度表达进而增加IS的发病风险。

Objective To examine the relationship between intercellular adhesion molecule-1 (ICAM-1) gene polymorphism and ischemic stroke(IS) in Chinese Zhuang populations. Methods The K469E polymorphism in the exon 6 of ICAM-1 gene was det ected by po lymerase chain reaction-restriction fragment length polymorphism ana lysis and DNA sequencing in 205 patients with IS of Zhuang nationality and in 21 0 healthy controls, and the serum level of ICAM-1 was determined by enzyme-lin ked immunosorbent assay. Results The IS group showed significa ntly higher serum levels of ICAM-1 than did the control group(P<0.01). Ther e was significant difference in frequencies of allele and genotype in K469E poly morphism between IS and control groups, respectively(P<0.05). The K allele carriers had 1.424 times the risk of suffering from IS as compared with the E a llele carriers (OR=1.424,95%CI:1.071-1.894); the serum ICAM-1 level of E a llele carriers was significantly higher than that of K allele carriers (501.24± 139.56 ng/ml vs 475.17±118.35 ng/ml, P<0.01). Conclusion T here is an association between ICAM-1 gene K469E polymorphism and I S, and E allele may be a genetic risk factor of IS among Guangxi Zhuangs, in whi ch the ICAM-1 E allele carriers may have up-regulated expression of ICAM-1 and hence are at a higher risk of ischemic stroke.