title: Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease?
abstract: 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.
authors.affiliation: INSERM, U744, Institut Pasteur de Lille, Université de Lille, Lille, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Hansmannel
authors.forename: Corinne
authors.initials: C
authors.lastname: Lendon
authors.forename: Florence
authors.initials: F
authors.lastname: Pasquier
authors.forename: Julie
authors.initials: J
authors.lastname: Dumont
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Julien
authors.initials: J
authors.lastname: Chapuis
authors.forename: Geoffroy
authors.initials: G
authors.lastname: Laumet
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Ayral
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.forename: Philippe
authors.initials: P
authors.lastname: Amouyel
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Lambert
mesh_terms: 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
chemical_list: D001057:Apolipoproteins E; D009954:Ornithine Carbamoyltransferase