title: Presenilin-1 polymorphism in patients with Alzheimer's disease, vascular dementia and alcohol-associated dementia in Japanese population.
abstract: We investigated the genetic association between intronic polymorphism in Presenilin-1 (PS-1) gene and patients with various types of dementia such as Alzheimer's disease (AD), vascular dementia (VD) and alcohol associated dementia (ALD), in Japanese population. Homozygosity for allele 1 of the PS-1 polymorphism was significantly increased in late-onset sporadic AD, but not in early-onset sporadic AD, familial AD, VD and ALD. When late-onset sporadic AD patients were divided on the basis of apolipoprotein E (APOE) genotype, homozygosity for the allele 1 of the PS-1 polymorphism was significantly increased in patients with late-onset sporadic AD without APOE epsilon 4 allele, but not in those with APOE epsilon 4 allele. Intronic mutation in PS-1 gene may be specific and one of the genetic risk factor for late-onset sporadic AD.
authors.affiliation: Division of Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Isoe
authors.forename: K
authors.initials: K
authors.lastname: Urakami
authors.forename: Y
authors.initials: Y
authors.lastname: Ji
authors.forename: Y
authors.initials: Y
authors.lastname: Adachi
authors.forename: K
authors.initials: K
authors.lastname: Nakashima
mesh_terms: D017668:Age of Onset; D000368:Aged; D000437:Alcoholism / Q000150:complications*; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D003704:Dementia / Q000139:chemically induced* / Q000235:genetics*; D015140:Dementia, Vascular / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1