title: No replication of genetic association between candidate polymorphisms and Alzheimer's disease.
abstract: Alzheimer's disease is a genetically complex disorder, for which new putative susceptibility genes are constantly proposed in the literature. We selected 16 candidate genes involved in biological pathways closely related to the pathology, and for which a genetic association with Alzheimer's disease was previously detected: ACE, BACE1, BDNF, ECE1, HSPG2, IDE, IL1a, IL6, IL10, MAPT, PLAU, PrnP, PSEN1, SORL1, TFCP2 and TGFb1. The variants originally associated with the disease were genotyped in a French Caucasian sample including 428 cases and 475 controls and tested for association in order to replicate the initial results. Despite a careful replication study design, we failed to validate the initial findings for any of these variants, with the possible exception of MAPT, SORL1 and TFCP2 for which some nominal but inconsistent evidence of association was observed.
authors.affiliation: Biological Sciences Department, sanofi-aventis Recherche et Développement, Centre de Génétique humaine, 91057 Evry, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Cousin
authors.forename: Sandrine
authors.initials: S
authors.lastname: Macé
authors.forename: Corinne
authors.initials: C
authors.lastname: Rocher
authors.forename: Colette
authors.initials: C
authors.lastname: Dib
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Muzard
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Laurent
authors.initials: L
authors.lastname: Pradier
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Deleuze
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Génin
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D030541:Databases, Genetic; D005602:France / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D055106:Genome-Wide Association Study / Q000592:standards*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044465:White People / Q000235:genetics