Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?
Expression of ornithine transcarbamylase (OTC) is strongly induced in the brain of individuals suffering from Alzheimer's Disease (AD). Association studies in a population from northern France have revealed that two SNPs -389 G/A (rs5963409) and -241 A/G (rs5963411) located in the promoter of the OTC gene are associated with the risk of developing AD. In the present work, these association studies were extended to a population of 2113 AD cases and 1580 controls from northern France, western France, the United Kingdom and Italy. The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD (OR=1.19, p=0.004). This association was independent of age and ApoE status. Our results support that the OTC gene may be a minor genetic determinant of AD.
Hansmannel
Franck
F
INSERM, U744, Institut Pasteur de Lille, Université de Lille, Lille, France.
Lendon
Corinne
C
Pasquier
Florence
F
Dumont
Julie
J
Hannequin
Didier
D
Chapuis
Julien
J
Laumet
Geoffroy
G
Ayral
Anne-Marie
AM
Galimberti
Daniela
D
Scarpini
Elio
E
Campion
Dominique
D
Amouyel
Philippe
P
Lambert
Jean-Charles
JC
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005602:France; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007391:International Cooperation; D007558:Italy; D008297:Male; D016017:Odds Ratio; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012737:Sex Factors; D006113:United Kingdom
D001057:Apolipoproteins E; D009954:Ornithine Carbamoyltransferase