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载脂蛋白E等位基因作为阿尔茨海默病的风险因素。

Apolipoprotein E alleles as risk factors in Alzheimer's disease.

作者信息

Roses A D

机构信息

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

出版信息

Annu Rev Med. 1996;47:387-400. doi: 10.1146/annurev.med.47.1.387.

Abstract

Alzheimer's disease (AD) is unique in medicine in that millions of people suffer from what appears to be the same form of disease, and unlike most other late-onset diseases, the genetic etiologies have been well identified. Three early onset forms of AD inherited as autosomal dominant traits account for less than 2% of prevalent AD. A major susceptibility locus, apolipoprotein E (APOE, gene; apoE, protein) is associated with risk and age of onset distributions for the common familial and sporadic late-onset AD. The identification of additional genetic susceptibility genes in the etiology of AD and the metabolic mechanisms leading to differences in age of onset and disease pathogenesis are active areas of current research.

摘要

阿尔茨海默病(AD)在医学领域具有独特性,因为数以百万计的人患有看似相同形式的疾病,而且与大多数其他晚发性疾病不同,其遗传病因已得到明确鉴定。三种以常染色体显性性状遗传的早发性AD形式占AD流行病例的比例不到2%。一个主要的易感基因座,载脂蛋白E(APOE,基因;apoE,蛋白质)与常见家族性和散发性晚发性AD的发病风险和发病年龄分布相关。在AD病因中鉴定其他遗传易感基因以及导致发病年龄差异和疾病发病机制的代谢机制是当前研究的活跃领域。

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