title: Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease.
abstract: A rare amyloid precursor protein gene variant, A673T (rs63750847) was recently reported to protect against Alzheimer's disease and age-related cognitive decline among Icelanders and the same rare variant was observed also in Finnish, Norwegian, and Swedish populations. We investigated this variant in 1674 late-onset Alzheimer's disease cases and 2644 elderly control subjects, all North American Whites (US Whites). We did not observe any example of the A673T variant in our large sample. Our findings suggest that this rare variant could be specific to the individuals of the origin from the Nordic countries.
authors: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Mikhil N
authors: MN
authors: Bamne
authors: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
authors: F Yesim
authors: FY
authors: Demirci
authors: Department of Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Sarah
authors: S
authors: Berman
authors: Department of Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Beth E
authors: BE
authors: Snitz
authors: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Samantha L
authors: SL
authors: Rosenthal
authors: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Xingbin
authors: X
authors: Wang
authors: Department of Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Oscar L
authors: OL
authors: Lopez
authors: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: kamboh@pitt.edu.
authors: M Ilyas
authors: MI
authors: Kamboh
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016022:Case-Control Studies; D003072:Cognition Disorders / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009656:North America; D012306:Risk; D044465:White People / Q000235:genetics
chemical_list: D016564:Amyloid beta-Protein Precursor
keywords: A673T; APP; Alzheimer's disease; Amyloid precursor protein; Cognitive decline; Cognitive impairment; rs63750847