Alzheimer病中载脂蛋白E基因与α1-抗糜蛋白酶基因的相互影响

The relation between α 1 antichymotrypsin gene polymorphism and ε4 allele of apolipoprotein E gene in Alzheimer disease in Chinese

目的探讨中国汉族Ａｌｚｈｅｉｍｅｒ病（Ａｌｚｈｅｉｍｅｒｄｉｓｅａｓｅ，ＡＤ）患者中载脂蛋白Ｅ基因多态性与α１抗糜蛋白酶基因多态性之间的关系。方法应用聚合酶链式反应（ＰＣＲ）－限制性片段长度多态性（ＲＦＬＰ）方法，在１２５例ＡＤ患者和１４０例正常人中观察了ＡＡＣＴ信号肽基因和ＡｐｏＥ基因多态性的分布，并对ＡＡＣＴ信号肽基因多态性与ＡｐｏＥ基因ε４等位基因进行关联分析。结果（１）ＡＡＣＴ信号肽基因多态性与ＡＤ之间不存在任何关联（Ｐ＞０．０５）；（２）无论是ＡｐｏＥε４型抑或非ＡｐｏＥε４型ＡＤ，均不出现与ＡＡＣＴ信号肽基因多态性的关联；（３）ＡＡＣＴ＊ＡＡ型ＡＤ患者与ＡｐｏＥ基因多态性无关，ＡＡＣＴ＊ＡＴ、ＡＡＣＴ＊ＴＴ型ＡＤ与ＡｐｏＥε４等位基因正关联。结论中国人群中ＡＡＣＴ信号肽基因多态性与ＡＤ之间不具关联，二者间的关系不受ＡｐｏＥε４等位基因的影响，但ＡＡＣＴ信号肽多态性可能对ＡｐｏＥε４等位基因与ＡＤ的关联产生影响。

Objective To detect the relation between α 1 antichymotrpsin(AACT) gene polymorphism and ε 4 allele of apolipoprotein E(ApoE) gene in Alzheimer disease (AD) in Chinese. Methods The gene polymorphisms of ApoE and AACT were genotyped in 125 AD cases and 140 controls with PCR methods RFLP typing. Then the association between AACT polymorphism and ApoE ε4 was analysed.Results There was no association between AD and any allele or genotype of AACT polymorphsim; AACT polymorphism was not associated with AD ApoE ε4 or without ApoE ε4.In AACT*AT and AACT*TT genotypes, ApoE ε4 allele was associated with AD, but no association was observed in AACT*AA genotype.Conclusion AACT may not be associated with AD in Chinese, and this effect can not be influenced by ApoE ε4,but AACT gene polymorphism may affect the association between ApoE ε4 allele and AD.