【摘要】 目的　探讨低密度脂蛋白受体相关蛋白 (LRP)基因两种多态性与阿尔茨海默病(Alzheimerdisease,AD)的相关情况。方法　应用分子生物学技术 ,在 42例患者和 40名正常人中观察LRP基因、ApoE基因多态性的分布 ,进行关联分析。结果　AD与LRP基因上游区域 5′端插入序列多态性无关联 ;AD与LRP基因外显子 3多态中的等位基因C正关联 (RR =2 .36 2 ,P <0 .0 5 ) ,与基因型C/C正关联 (RR =2 .710 ,P <0 .0 5 ) ;AD与ApoE基因ε4等位基因正关联 (RR =3.194,P <0 .0 1) ,与ε4/ 3基因型正关联 (RR =3.148,P <0 .0 5 ) ,但与ε4/ 2基因型无关 ;无ApoEε4等位基因的AD与LRPC/C基因型正关联 (RR =6 .842 ,P <0 .0 5 ) ,有ApoEε4等位基因的AD患者与LRPC/C基因型无关联(RR =1.85 7,P >0 .0 5 )。结论　ApoEε4是AD发病的风险因子 ;LRP基因多态性与AD正关联是由于LRP基因C/C型在患者中过表达所致 ;LRP基因C/C型是无ApoEε4的AD患者发病的风险因子。更多还原

【Abstract】 Objective To examine the asssociation of two low density lipoprotein receptor related protein (LRP) gene polymorphisms with sporadic late onset Alzheimer′s disease(AD). Methods The two polymorphisms in the LRP gene were genotyped in 42 AD cases and 40 controls with molecular biological methods. The apolipoprotein E (ApoE) gene polymorphism was also genotyped. Results There was no association between AD and the tetranucleotide polymorphism; AD was associated with allele C ( RR =2.362, P <0.05) and genotype C/C ( RR =2.710, P <0.05) for the LRP exon 3 polymorphism; AD was associated with ApoE ε4 ( RR =3.194, P < 0.01) and genotype ε4/3( RR =3.148, P <0.05); there was association between AD without ApoE ε4 and LRP C/C genotype ( RR =6.842, P <0.05). Conclusions The ApoE ε4 is a risk factor of AD; the AD is associated with LRP exon 3 polymorphism because of over represented C/C genotype of LRP gene; C/C genotype of LRP gene may be an independent risk factor of AD patients without ApoE ε4.更多还原