脑梗塞患者糖皮质激素受体基因第4内含子G1666T的相关性研究

The association between glucocorticoid receptor gene G1666T polymorphism and cerebral infarction in Chinese

目的 探讨糖皮质激素受体 (gluocorticoid receptor,GR)基因第 4内含子 G16 6 6 T处多态性与脑梗塞 (cerebral infarction,CI)和原发性高血压 (essential hypertension,EH)的相关关系。方法 应用聚合酶链反应 -限制性片段长度多态性 (polymerase chain reaction- restriction fragment length polymor-phism,PCR- RFL P)方法 ,分析了 16 3名中国人 GR基因第 4内含子变异的多态性分布情况。结果从整体不分性别来看 ,GR基因第 4内含子的变异在 EH合并 CI组、CI组与对照组之间 ,其基因型频率、等位基因的频率差异无显著性。而在女性 ,EH合并 CI组等位基因 G的频率 (0 .6 4 )与对照组 (0 .4 6 )比较明显增高 ,差异有显著性 (P<0 .0 5 ) ;CI组等位基因 G的频率 (0 .6 9)亦明显高于对照组 (0 .4 6 ) ,差异有显著性(P<0 .0 5 )。结论 对女性来说 ,等位基因 G可能是脑梗塞的易感基因标志。

Objective To ascertain whether the human glucocorticoid receptor(GR) gene polymorphism is associated with cerebral infarction(CI) and essential hypertension (EH) in Chinese. Methods This is a case-control study of Chinese DNA samples abstracted from 163 subjects. The samples were analysed by a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) to determine the intron 4 variant of human GR gene. Results By analysis of the samples from both sexes as a whole, no association was observed between the EH+CI group and control group, and between the CI group and control group. However, by analysis of the samples from the females,weak association was observed between the EH+CI group and control group, and between the CI group and control group; the frequency of allele G was 0.64 for the EH+CI group, 0.69 for CI group and 0.46 for control group. Conclusion The G allele may be a predisposing gene marker, GR gene intron 4 polymorphism contributes to the development of CI in females.