Apolipoprotein E (APOE) is consistently associated with dementia in the general population. Findings on the role of this gene in persons with Down's syndrome (DS) are inconclusive. We studied the effects of APOE on mortality and dementia in a longitudinal prospective study of a large population-based sample of persons with DS (n = 425), demented and non-demented. There was evidence that APOE ε4 is correlated with the rate of decline in the social competence rating scale (SRZ) (p = 0.04). In our population, we found overall a modest but not statistical significant effect on the prevalence of dementia (OR = 1.57, 95%CI: 0.87-2.82). We did observed a significant long-term effect on the incidence of dementia (HR = 4.66, 95%CI: 1.35-16.14), but for those with a follow-up less than 3 years the risk was not significantly increased: HR = 0.83 (95%CI 0.35-1.94). When pooling our data in a meta-analysis, the APOE ε4 allele shows a 1.59-fold (95%CI: 1.19-2.12) increase in risk of dementia in persons with DS. We conclude that APOE is influencing the risk of dementia in persons with DS.

Alzheimer's disease, Apolipoprotein E, Cognitive and functional decline, Down's syndrome
dx.doi.org/10.1016/j.neurobiolaging.2006.12.013, hdl.handle.net/1765/29387
Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology
Erasmus MC: University Medical Center Rotterdam

Coppus, A.M.W, Evenhuis, H.M, Verberne, G.J, Visser, F.E, Arias-Vásquez, A, Sayed-Tabatabaei, F.A, … Tikka-Kleemola, P. (2008). The impact of apolipoprotein E on dementia in persons with Down's syndrome. Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, 29(6), 828–835. doi:10.1016/j.neurobiolaging.2006.12.013