No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population.
Recently, a polymorphism located in the promoter of the presenilin 1 gene was associated with early-onset Alzheimer disease (EOAD). To determine if this polymorphism is also a risk factor for late-onset Alzheimer's disease (LOAD), we analysed its potential impact in a French population of LOAD patients only. Genotype and allelic distributions of the -48CT polymorphism were similar for controls and AD patients. Our result suggests that this polymorphism may not influence the development of LOAD. Other studies need to be undertaken to confirm this association restricting the impact of this polymorphism to EOAD patients.
Unité INSERM 508, Institut Pasteur de Lille, 1 rue du Pr Calmette, BP 245, F-59019 Lille Cedex, France.
L
L
Araria-Goumidi
J B
JB
Huguet
J C
JC
Lambert
B
B
Frigard
D
D
Cottel
P
P
Amouyel
M C
MC
Chartier-Harlin
D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D053764:Presenilin-1; D011401:Promoter Regions, Genetic / Q000235:genetics; D012016:Reference Values
D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1