title: KIBRA genetic polymorphism influences episodic memory in Alzheimer's disease, but does not show association with disease in a Japanese cohort.
abstract: OBJECTIVE
  A single-nucleotide polymorphism (SNP) in the KIBRA gene, rs17070145, was reported to be significantly associated with episodic memory in cognitively normal cohorts. This observation has expanded genetic studies on KIBRA to Alzheimer's disease (AD). Importantly, the association between KIBRA and episodic memory in AD has never been addressed. In this study, we investigated whether the KIBRA rs17070145 SNP influences AD episodic memory and the disease in a Japanese cohort.
  
  
  METHODS
  Blood samples from 346 AD patients and 375 normal cognitive controls were collected and genotyped for rs17070145. Episodic memory was measured in 32 AD patients, diagnosed for the first time, by use of the Rivermead Behavioral Memory Test (RBMT).
  
  
  RESULTS
  We found that KIBRA C allele carriers scored significantly lower than KIBRA non-C carriers on both RBMT total profile score (p = 0.042, effect size = 0.84) and RBMT total screening score (p < 0.001, effect size = 1.42). The KIBRA gene did not show association with AD in our Japanese cohort.
  
  
  CONCLUSIONS
  Our results evidence a strong association between the KIBRA gene and episodic memory impairment in AD, but show no influence on AD in our Japanese cohort. We propose that KIBRA might have an effect similar to cognitive reserve.
authors.affiliation: Department of Psychiatry, Osaka University Graduate School of Medicine, Japan.
authors.forename: Noriyuki
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authors.lastname: Hayashi
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Kazui
authors.forename: Kouzin
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authors.lastname: Kamino
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Tokunaga
authors.forename: Masahiko
authors.initials: M
authors.lastname: Takaya
authors.forename: Mikiko
authors.initials: M
authors.lastname: Yokokoji
authors.forename: Ryo
authors.initials: R
authors.lastname: Kimura
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Kito
authors.forename: Tamiki
authors.initials: T
authors.lastname: Wada
authors.forename: Keiko
authors.initials: K
authors.lastname: Nomura
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Sugiyama
authors.forename: Daisuke
authors.initials: D
authors.lastname: Yamamoto
authors.forename: Tetsuhiko
authors.initials: T
authors.lastname: Yoshida
authors.forename: Antonio
authors.initials: A
authors.lastname: Currais
authors.forename: Salvador
authors.initials: S
authors.lastname: Soriano
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Hamasaki
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Yuka
authors.initials: Y
authors.lastname: Yasuda
authors.forename: Ryota
authors.initials: R
authors.lastname: Hashimoto
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Tanimukai
authors.forename: Shinji
authors.initials: S
authors.lastname: Tagami
authors.forename: Masayasu
authors.initials: M
authors.lastname: Okochi
authors.forename: Toshihisa
authors.initials: T
authors.lastname: Tanaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Kudo
authors.forename: Takashi
authors.initials: T
authors.lastname: Morihara
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Takeda
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D000704:Analysis of Variance; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D008297:Male; D011939:Mental Recall / Q000502:physiology*; D008875:Middle Aged; D009483:Neuropsychological Tests; D010750:Phosphoproteins; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D012016:Reference Values
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D010750:Phosphoproteins; D011506:Proteins; C513637:WWC1 protein, human