终末糖化产物受体基因Gly82Ser多态性与脑梗死低分子肝素试验亚型相关性研究

Association of advanced glycation end products gene Gly82Ser polymorphism with cerebral stroke groups by TOAST

目的 探讨终末糖化产物（AGEs）受体基因Gly82Ser多态性与脑梗死低分子肝素试验（TOAST）分型各亚型的关系.方法 应用聚合酶链反应-限制性片段多态性的方法检测261例脑梗死患者AGEs受体基因Gly82Ser exon3内82位点基因型频率和等位基因频率,其中TOAST分型大动脉粥样硬化（LAA）型88例（LAA型组）,小动脉闭塞（SVO）型115例（SVO型组）,心源性栓塞（CE）型31例（CE型组）,其他明确因为（ODE）型22例（ODE型组）,因为不明（UE）型5例（UE型组）.并与50例汉族健康体检者（对照组）进行对照.结果 SVO型组AGEs受体基因杂合子基因型（GS）频率（66.1%,76/115）显著高于对照组（42.0%,21/50）（P〈0.01）,变异等位基因（S）频率与对照组比较差异无统计学意义;LAA型、CE型、ODE型和UE型各组GS频率和S频率与对照组比较差异无统计学意义.结论 SVO型脑梗死AGEs受体基因Gly82Ser杂合子基因型明显增多,Gly82Ser基因突变可能与SVO型脑梗死有相关性.AGEs受体基因Gly82Ser多态性与LAA型、CE型、ODE型和UE型脑梗死的发病、发展无相关性.

Objective To study the relationship between advanced glycation end products（RAGE）gene Gly82Ser polymorphism in patients with cerebral stroke classified by TOAST according to multple factors leading to disease.Methods The Gly82Ser gene at position of RAGE gene exon 3 was determined by PCR-RFLP method in 88 cases of large-artery atherosclerosis stroke（LAA group）,115 cases of small vessel occlusion（SVO group）,31 cases of cardio-embolism stroke（CE group）,22 cases of other demonstrated etiology（ODE group）,5 cases of other undetermined etiology（UE group）and 50 healthy control of Han nationality（control group）.Results The frequencies of RAGE gene Gly82Ser GS heterozygous genotype were significantly higher in SVO group（66.1%,76/115）than those in control group（42.0%,21/50）（P〈0.01）,and there was no significant difference in the S allele frequency between the two groups（P〉0.05）.The frequencies of RAGE gene Gly82Ser,GS heterozygous genotype and S allele frequency in LAA,CE,ODE and UE group had no significant difference compared with those in control group.Conclusions The frequencies of RAGE gene Gly82Ser GS heterozygous genotype significandy increase in SVO patients,and this may be associated with SVO.The polymorphism of Gly82Ser is not associated with the occurrence and development of LAA,CE,ODE and UE cerebral stroke.