AN INTRONIC POLYMORPHISM IN THE PRESENILIN-1 GENE DOES NOT INFLUENCE THE AMOUNT OR MOLECULAR-FORM OF THE AMYLOID-BETA PROTEIN DEPOSITED IN ALZHEIMERS-DISEASE

The frequency of the allele-1 polymorphism in intron 8 of the presenil in-1 (PS-1) gene, and the proportion of individuals homozygous in this respect, was investigated in 57 patients with autopsy verified Alzhei mer's disease (AD). In 33 of these patients the amount of amyloid beta protein (A beta) was compared across the three PS-1 genotype groups ( 1/1, 1/2, 2/2). No excess of the allele-1 was detected in these patien ts with confirmed AD and no variations in the extent of A beta deposit ion, as either A beta(40) or A beta(42), in terms of plaque number or percentage area of tissue occupied, were found. We conclude that this intronic PS-1 polymorphism does not influence the pathological phenoty pe of AD, at least as far as A beta deposition is concerned. (C) 1997 Elsevier Science Ireland Ltd.