title: A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease.
abstract: Several observations suggest that neurotoxicity in Alzheimer's disease (AD) can be partly attributed to beta-amyloid (Abeta) and senile plaques. Recent work has suggested that the FISH (five SH3 domains) adapter protein and ADAM12 (a disintegrin and metalloprotease) may mediate the neurotoxic effect of Abeta. Both genes are located on chromosome 10, within a region linked to AD (for SH3PXD2A) or nearby (for ADAM12). A recent study reported a statistically significant interaction between 2 variants of these genes (rs3740473 for SH3PXD2A and rs11244787 for ADAM12) with respect to the risk of developing AD. With a view to replicating this observation, we genotyped the two SNPs in four European case-control cohorts of Caucasian origin (1913 cases and 1468 controls) but were unable to confirm the initial results.
authors.affiliation: INSERM, U744, Université de Lille 2, Institut Pasteur de Lille, BP 245, 1, rue du professeur Calmette, F-59019 Lille Cedex, France.
authors.forename: Geoffroy
authors.initials: G
authors.lastname: Laumet
authors.forename: Vincent
authors.initials: V
authors.lastname: Petitprez
authors.forename: Adeline
authors.initials: A
authors.lastname: Sillaire
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Ayral
authors.forename: Franck
authors.initials: F
authors.lastname: Hansmannel
authors.forename: Julien
authors.initials: J
authors.lastname: Chapuis
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Florence
authors.initials: F
authors.lastname: Pasquier
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Corinne
authors.initials: C
authors.lastname: Lendon
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: D051722:ADAM Proteins / Q000235:genetics*; D000072199:ADAM12 Protein; D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D044465:White People
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D008565:Membrane Proteins; C478582:SH3PXD2A protein, human; D051722:ADAM Proteins; D000072199:ADAM12 Protein; C000606480:ADAM12 protein, human