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Presenilin‐1 polymorphism in patients with Alzheimer's disease, vascular dementia and alcohol‐associated dementia in Japanese population
Author(s) -
Isoe K.,
Urakami K.,
Ji Y.,
Adachi Y.,
Nakashima K.
Publication year - 1996
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1996.tb07074.x
Subject(s) - apolipoprotein e , dementia , allele , vascular dementia , alzheimer's disease , presenilin , genotype , medicine , age of onset , degenerative disease , population , genetics , disease , biology , gene , environmental health
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 εe 4 allele, but not in those with APOE εe 4 allele. Intronic mutation in PS‐1 gene may be specific and one of the genetic risk factor for late‐onset sporadic AD.