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Title

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Authors
Cuyvers, Elise
van der Zee, Julie
Bettens, Karolien
Engelborghs, Sebastiaan
Vandenbulcke, Mathieu
Robberecht, Caroline
Dillen, Lubina
Merlin, Céline
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Published in Neurobiology of Aging. 2015, vol. 36, no. 5, p. 2005.e15-e22
Abstract Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 (SQSTM1) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgian AD patients selected to be enriched for a genetic background (n = 435) and geographically matched nonaffected individuals (n = 872) to investigate the role of both common and rare SQSTM1 variants. Results were extended to the European early-onset dementia cohorts (926 early-onset Alzheimer's disease [EOAD] patients and 1476 nonaffected individuals). Of the 61 detected exonic variants in SQSTM1, the majority were rare (n = 57). Rare variant (minor allele frequency <0.01) burden analysis did not reveal an increased frequency of rare variants in EOAD patients in any of the separate study populations nor when meta-analyzing all cohorts. Common variants p.D292= and p.R312= showed nominal association with AD (odds ratiop.D292= = 1.11 [95% confidence interval = 1-1.22], p = 0.04), only when including the Flanders-Belgian cohort in the meta-analysis. We cannot exclude a role of SQSTM1 genetic variability in late-onset AD, but our data indicate that SQSTM1 does not play a major role in the etiology of EOAD.
Identifiers
PMID: 25796131
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Research group Troubles de mémoire et maladie d'Alzeimer (935)
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CUYVERS, Elise et al. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study. In: Neurobiology of Aging, 2015, vol. 36, n° 5, p. 2005.e15-e22. https://archive-ouverte.unige.ch/unige:75880

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Deposited on : 2015-10-08

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