Variations in the APP gene promoter region and risk of Alzheimer disease.
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.
Guyant-Maréchal
L
L
INSERM U614, Faculty of Medicine, IFRMP, 76000 Rouen, France.
Rovelet-Lecrux
A
A
Goumidi
L
L
Cousin
E
E
Hannequin
D
D
Raux
G
G
Penet
C
C
Ricard
S
S
Macé
S
S
Amouyel
P
P
Deleuze
J-F
JF
Frebourg
T
T
Brice
A
A
Lambert
J-C
JC
Campion
D
D
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
C545487:APP protein, human; D016564:Amyloid beta-Protein Precursor; D014408:Biomarkers, Tumor; D058255:Protease Nexins; D011956:Receptors, Cell Surface