阿尔茨海默病是老年痴呆最常见的病因,而胆固醇分布及代谢均可能影响阿尔茨海默病(AD)发病。全基因组相关性研究(GWAS)揭示载脂蛋白E基因(APOE)、簇连蛋白(CLU)、补体受体1(CRl)、磷脂酰肌醇结合网格蛋白装配蛋白(PICALM)及桥连整合蛋白1(BINl)等基因与AD有关,而在AlzGene荟萃分析中有五个胆固醇相关基因结果呈阳性,分别是APOE、胆固醇-25-羟化酶(CI-125H)、CLU、低密度脂蛋白受体(LDLR)及分拣蛋白相关受体1(SORLl)。本文旨在探讨上述基因在脂质代谢中的潜在作用以及对AD发病机制可能的影响。
Alzheimer' s disease (AD) is the most common cause of senile dementia,and both of the distribution and metabolism of cholesterol may affect the pathogenesis of AD. Genome-wide association study (GWAS) have revealed five genes associated with AD, including apolipoprotein E (APOE), clusterin ( CLU), complement receptor 1 ( CR1 ), pbosphatidylinositol-binding clathrin assembly protein(PICALM) and bridging integrator protein 1 ( BIN1 ). However, five cholesterol-related genes which have been reported association with AD, have positive results in meta-analysis of AlzGene, respectively, APOE, cholesterol 25-hydroxylase ( CH25H ), CLU, low density lipoprotein receptor (LDLR) and sortilin-related receptor precursor(SORL1 ). This paper aims to explore the potential role of these genes in lipid metabolism and the potential affection in the pathogenesis of AD.