Corder E H, Saunders A M, Strittmatter W J, Schmechel D E, Gaskell P C, Small G W, Roses A D, Haines J L, Pericak-Vance M A
Department of Medicine, Joseph and Kathleen Bryan Alzheimer's Disease Research Center, Duke University Medical Center, Durham, NC 27710.
Science. 1993 Aug 13;261(5123):921-3. doi: 10.1126/science.8346443.
The apolipoprotein E type 4 allele (APOE-epsilon 4) is genetically associated with the common late onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE-epsilon 4 alleles in 42 families with late onset AD. Thus APOE-epsilon 4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE-epsilon 4 was virtually sufficient to cause AD by age 80.
载脂蛋白E4等位基因(APOE-ε4)在基因上与常见的晚发型家族性和散发性阿尔茨海默病(AD)相关。在42个晚发型AD家族中,随着APOE-ε4等位基因数量的增加,患AD的风险从20%增至90%,发病的平均年龄从84岁降至68岁。因此,APOE-ε4基因剂量是晚发型AD的主要风险因素,在这些家族中,APOE-ε4纯合子在80岁时几乎足以引发AD。