Presenilin-2 mutation and polymorphism in Japanese Alzheimer disease patients

The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds. However, the genetic influence of presenilin 2 gene on sporadic Alzheimer disease remai ns unknown. In this study, the frequency of the mutation and genetic associ ation with the presenilin 2 locus were investigated in Japanese sporadic ca ses. The Asn141Ile mutation was not found in 88 cases of sporadic Alzheimer disease or 13 unrelated cases of familial Alzheimer disease. Fifty cases o f late onset sporadic Alzheimer disease and 50 age-matched controls indicat ed no association with an exon 3 polymorphism of the presenilin 2 gene. The se results indicate that the presenilin 2 mutation is not a major cause of Alzheimer disease. (C) 1999 Elsevier Science B.V. All rights reserved.