Liu L, Forsell C, Lilius L, Axelman K, Corder E H, Lannfelt L
Karolinska Institute, Department of Clinical Neuroscience, Huddinge, Sweden.
Am J Med Genet. 1996 May 31;67(3):306-11. doi: 10.1002/(SICI)1096-8628(19960531)67:3<306::AID-AJMG7>3.0.CO;2-K.
An association between the epsilon 4 allele of the apolipoprotein E gene (APOE) and late-onset Alzheimer's disease (AD) was recently demonstrated. In order to confirm the association and to gauge the ability of standard genetic linkage methods to identify susceptibility genes, we investigated 15 Swedish late-onset Ad families. We found an association of familial AD to the APOE epsilon 4 allele (P = 0.01) but no indication of linkage to the APOE region using 2-point linkage analysis, and only weak evidence using the affected pedigree-member (APM) method. Our results confirm an APOE epsilon 4 association with late-onset familial AD and indicate that susceptibility genes can easily be missed when using standard lod score and APM genetic linkage analysis.
最近有研究表明，载脂蛋白E基因（APOE）的ε4等位基因与晚发性阿尔茨海默病（AD）之间存在关联。为了证实这种关联并评估标准基因连锁方法识别易感基因的能力，我们对15个瑞典晚发性AD家族进行了研究。我们发现家族性AD与APOE ε4等位基因存在关联（P = 0.01），但通过两点连锁分析未发现与APOE区域连锁的迹象，使用患病家系成员（APM）方法也仅有微弱证据。我们的结果证实了APOE ε4与晚发性家族性AD的关联，并表明在使用标准对数优势比分（lod score）和APM基因连锁分析时，易感基因很容易被遗漏。
