title: Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.
abstract: Alzheimer's disease (AD) is a complex, multifactorial disorder, probably resulting from an interaction between environmental and genetic factors. Increasing evidence points to a link between cholesterol turnover and AD, suggesting that genes implicated in brain cholesterol homeostasis may be potential candidate genes for AD. With this background, we tested the potential association of the CYP46, APOM and APOF genes with the risk of developing AD. CYP46 encodes the enzyme cholesterol 24-hydrolase, which plays a key role in brain cholesterol turnover, and APOF and APOM encode apolipoproteins belonging to the large lipocalin family, which also includes ApoE. In contrast to two previous reports but in accordance with one other, we were unable to detect an association between an intron 2 polymorphism of CYP46 and AD. We also searched for polymorphisms within the APOM and APOF by dHPLC. We were unable to detect any polymorphisms in the coding and exon/intron sequences of the APOF. Finally, we excluded APOM as a genetic determinant of AD in our large French case control population.
authors.affiliation: Unité INSERM 508, Institut Pasteur de Lille, BP 245, 1 rue du Professeur Calmette, 59019 Lille Cédex, France.
authors.forename: Amro
authors.initials: A
authors.lastname: Kabbara
authors.forename: Nathalie
authors.initials: N
authors.lastname: Payet
authors.forename: Dominique
authors.initials: D
authors.lastname: Cottel
authors.forename: Bernard
authors.initials: B
authors.lastname: Frigard
authors.forename: Philippe
authors.initials: P
authors.lastname: Amouyel
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Lambert
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D001053:Apolipoproteins / Q000235:genetics*; D000075243:Apolipoproteins M; D001921:Brain / Q000378:metabolism; D001923:Brain Chemistry / Q000235:genetics; D016022:Case-Control Studies; D002784:Cholesterol / Q000378:metabolism*; D000072556:Cholesterol 24-Hydroxylase; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005602:France / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D054834:Lipocalins; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D013250:Steroid Hydroxylases / Q000235:genetics* / Q000378:metabolism
chemical_list: C400523:APOM protein, human; D001053:Apolipoproteins; D000075243:Apolipoproteins M; D054834:Lipocalins; C036321:apolipoprotein F; D002784:Cholesterol; D013250:Steroid Hydroxylases; D000072556:Cholesterol 24-Hydroxylase