摘要
探讨细胞间黏附分子1(ICAM-1)基因K469E多态性各等位基因及基因型在广西壮族脑梗死患者中的分布频率,初步分析其基因及血清水平与脑梗死的关系。采用聚合酶连反应-限制性片段长度多态性(PCR-RFLP)和DNA序列测定法检测19例脑梗死及210例对照者ICAM-1基因第6外显子K469E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ICAM-1水平。脑梗死组ICAM-1血清水平显著高于对照组(P<0.01),ICAM-1基因K469E基因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<0.05),等位基因频率的相对风险分析发现,E等位基因携带者患脑梗死的风险是K等位基因的1.454倍(OR=1.454,95%CI1.090~1.940),携带E等位基因的脑梗死患者ICAM-1血清水平显著高于不携带者(503.31±141.32)ng/ml和(489.80±122.43)ng/ml,(P<0.01)。ICAM-1基因K469E多态性与脑梗死的发病具有相关性,E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E等位基因的个体可能通过促进ICAM-1的高度表达进而增加脑梗死的发病风险。
To study the relationship of the allele frequencies and genotype distribution of the ICAM,1 gene K469E polymorphism with cerebral infarction and to analyze the association of serum levels and genotypes of ICAM,1 with cerebral infarction in Chinese Zhuang population. The K469E polymorphism in the exon 4 of ICAM,1 gene was analyzed by PCR,RFLP and DNA sequencing among 195 patients with cerebral infarction of Zhuang population in Guangxi autonomous region and 210 healthy individuals as normal control. The serum level of ICAM,1 was determined by ELISA. It was found that the cerebral infarction group showed significantly higher serum level of ICAM,1 than that of the control group, and there was significant difference in frequencies of alleles and genotypes in K469 polymorphism between cerebral infarction group and the control group. The relative risk analysis on allele frequency demonstrated that, the risk of the E,allele carriers suffered from cerebral infarction was 1.454 times of the K,allele carriers (OR=1.454,95% CI:1.090~1.940). The serum ICAM,1 level was significantly higher among E,allele carriers in comparison with that of the non,E allele carriers (K,allele carriers) (503.31±141.32) ng/ml vs(489.80±122.43) ng/ml,(P<0.01). It concludes that ICAM,1 K469E gene polymorphism correlates with the pathogenesis of cerebral infarction and the E,allele may be a genetic risk factor for cerebral infarction among Zhuang population in Guangxi autonomous region. In which individuals carrying the E,allele could increase risk to develop cerebral infarction by enhancing the higher degree of ICAM,1 expression.
出处
《现代免疫学》
CAS
CSCD
北大核心
2005年第1期66-69,共4页
Current Immunology
基金
广西壮族自治区卫生厅课题(Z2004037)
广西自治区右江民族学院科研基金资助项目