PRESENILIN-1 INTRON-8 POLYMORPHISM IS NOT ASSOCIATED WITH AUTOPSY-CONFIRMED LATE-ONSET ALZHEIMERS-DISEASE

Mutations in the presenilin-1 (PS-1) gene may account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. However, th ere is controversy as to whether the bi-allelic intron 8 PS-1 polymorp hism plays a role in late-onset AD (LOAD). AS previous association stu dies with this polymorphism have all investigated clinically diagnosed LOAD cases, we have analysed the frequency of the PS-1 intronic polym orphism in a series of autopsy-confirmed early- (n = 54) and late-onse t (n = 199) cases and a large control population of non-demented, aged individuals (n = 215). Our sample size should have had the power to r eveal effects of the size previously reported for the PS-1 polymorphis m, but we detected no significant increase in the 1/l risk genotype di stribution in EOAD or LOAD cases. Thus, we have been unable to find an association between the PS-1 intronic polymorphism and early- or late -onset AD within this autopsy-confirmed population. (C) 1997 Elsevier Science Ireland Ltd.