title: Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.
abstract: OBJECTIVE
  Mutations in the presenilin 2 (PSEN2) gene cause familial Alzheimer's disease (AD). Common polymorphisms affect gene activity and increase the risk of AD. Nonsynonymous polymorphisms in the PSEN2 gene showed Lewy body dementia (LBD) phenotypes clinically. Therefore, we aimed to investigate whether PSEN2 gene polymorphisms were associated with AD or LBD.
  
  
  METHODS
  Seven single nucleotide polymorphisms (SNPs) of the gene were analyzed using a case-control study design comprising 288 AD patients, 76 LBD patients, and 105 age-matched controls.
  
  
  RESULTS
  Linkage disequilibrium (LD) examination showed strong LD from rs1295645 to rs8383 on the gene in our cases from Japan. There were no associations between the SNPs studied here and AD onset, and haplotypic analyses did not detect genetic associations between AD and the PSEN2 gene. Although the number of the cases was small, the SNPs studied did not modify the risk of developing LBD in a Japanese population.
  
  
  CONCLUSIONS
  The common SNPs of the PSEN2 gene did not affect the risk of AD or LBD in a Japanese population. Because genetic variability of the PSEN2 gene is associated with behavioral and psychological symptoms of dementia (BPSD) in AD and LBD, further detailed analyses considering BPSD of both diseases would be required.
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Suzuki
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Nobuto
authors.initials: N
authors.lastname: Shibata
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Kasanuki
authors.affiliation: Department of Psychiatry, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan; Division of Molecular Genetics, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Nagata
authors.affiliation: Department of Psychiatry, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Shinagawa
authors.affiliation: Department of Psychiatry, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Kobayashi
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohnuma
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Takeshita
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Kawai
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Takayama
authors.affiliation: Departments of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Kenya
authors.initials: K
authors.lastname: Nishioka
authors.affiliation: Departments of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Motoi
authors.affiliation: Departments of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.affiliation: Department of Psychiatry, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakayama
authors.affiliation: Division of Molecular Genetics, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Yamada
authors.affiliation: Departments of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Heii
authors.initials: H
authors.lastname: Arai
keywords: Alzheimer's disease; Apolipoprotein E; Lewy body dementia; Presenilin 2; Single nucleotide polymorphism