NADPH氧化酶p22phox亚基基因多态性在动脉粥样硬化性脑梗死发病中的意义

Significance of the Nicotinamide Adenine Dinucleotide Phosphate Oxidase Subunit p22phox Polymorphism in Atherosclerotic Cerebral Infarction

目的探讨还原型烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶p22phox亚基-A930G、C549T基因多态性与动脉粥样硬化性脑梗死(CI)的关系。方法采用PCR-RFLP技术检测269例CI患者(CI组)和187例无CI对照者(对照组)的基因多态性。结果与对照组比较,CI组的-A930G基因型分布差异有统计学意义,而-A930G等位基因、C549T基因型和等位基因分布差异无统计学意义。另外,等位基因930A与549T配对、呈单倍型AT时,CI组的出现率明显高于对照组。结论 -A930G的基因突变可能与急性CI的发生相关,同时单倍型AT可能使CI的发病风险增高。

Aim To evaluate the association between the polymorphisms of the NADPH oxidase subunit p22phox gene -A930G, C549T and atherosclerotic cerebral infarction （CI） risk. Methods The genotypes of the -A930G, C549T were detected by the polymerase chain reaction-restriction fragment length polymorphism in 269 CI patients and 187 subjects without CI. Results Compared with the subjects without CI, there was significant statistic association among the -A930G genotype mutations, and there were no significant statistic differences in the distribution of-A930G alleles, C549T genotypes and alleles. The frequency of AT haplotype was significantly higher than that in the CI group. Conclusion -A930G gene mutations might be susceptible individually to the risk of CI, while AT haplotype carrier demonstrating a higher risk of CI.