title: Variations in the APP gene promoter region and risk of Alzheimer disease.
abstract: We genotyped five polymorphisms, including two polymorphisms with known effects on transcriptional activity, in a large cohort of 427 Alzheimer disease (AD) cases and 472 control subjects. An association between rs463946 (-3102 G/C) and AD was found and was confirmed in a replication sample of a similar size. By contrast, analysis of three recently described rare mutations influencing APP transcription did not confirm their association with AD risk.
authors.affiliation: INSERM U614, Faculty of Medicine, IFRMP, 76000 Rouen, France.
authors.forename: L
authors.initials: L
authors.lastname: Guyant-Maréchal
authors.forename: A
authors.initials: A
authors.lastname: Rovelet-Lecrux
authors.forename: L
authors.initials: L
authors.lastname: Goumidi
authors.forename: E
authors.initials: E
authors.lastname: Cousin
authors.forename: D
authors.initials: D
authors.lastname: Hannequin
authors.forename: G
authors.initials: G
authors.lastname: Raux
authors.forename: C
authors.initials: C
authors.lastname: Penet
authors.forename: S
authors.initials: S
authors.lastname: Ricard
authors.forename: S
authors.initials: S
authors.lastname: Macé
authors.forename: P
authors.initials: P
authors.lastname: Amouyel
authors.forename: J-F
authors.initials: JF
authors.lastname: Deleuze
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: J-C
authors.initials: JC
authors.lastname: Lambert
authors.forename: D
authors.initials: D
authors.lastname: Campion
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005602:France / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic; D058255:Protease Nexins; D011956:Receptors, Cell Surface / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: C545487:APP protein, human; D016564:Amyloid beta-Protein Precursor; D014408:Biomarkers, Tumor; D058255:Protease Nexins; D011956:Receptors, Cell Surface