A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease. Laumet, G., Petitprez, V., Sillaire, A., Ayral, A., Hansmannel, F., Chapuis, J., Hannequin, D., Pasquier, F., Scarpini, E., Galimberti, D., Lendon, C., Campion, D., Amouyel, P., & Lambert, J. Neuroscience Letters, 468(1):1–2, January, 2010. doi abstract bibtex 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.
@article{laumet_study_2010,
title = {A study of the association between the {ADAM12} and {SH3PXD2A} ({SH3MD1}) genes and {Alzheimer}'s disease},
volume = {468},
issn = {1872-7972},
doi = {10.1016/j.neulet.2009.10.040},
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.},
language = {eng},
number = {1},
journal = {Neuroscience Letters},
author = {Laumet, Geoffroy and Petitprez, Vincent and Sillaire, Adeline and Ayral, Anne-Marie and Hansmannel, Franck and Chapuis, Julien and Hannequin, Didier and Pasquier, Florence and Scarpini, Elio and Galimberti, Daniela and Lendon, Corinne and Campion, Dominique and Amouyel, Philippe and Lambert, Jean-Charles},
month = jan,
year = {2010},
pmid = {19837132},
keywords = {Aged, Alzheimer Disease, Humans, Female, Male, Genetic Predisposition to Disease, Risk Factors, Case-Control Studies, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Membrane Proteins, ADAM Proteins, ADAM12 Protein, Adaptor Proteins, Vesicular Transport},
pages = {1--2}
}
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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. 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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. 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