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Title: UNC13A is a modifier of survival in amyotrophic lateral sclerosis
Authors: Diekstra, Frank P ×
van Vught, Paul W J
van Rheenen, Wouter
Koppers, Max
Pasterkamp, R Jeroen
van Es, Michael A
Schelhaas, Helenius J
de Visser, Marianne
Robberecht, Wim
Van Damme, Philip
Andersen, Peter M
van den Berg, Leonard H
Veldink, Jan H #
Issue Date: Mar-2012
Publisher: Elsevier
Series Title: Neurobiology of Aging vol:33 issue:3 pages:630.e3-8
Abstract: A large genome-wide screen in patients with sporadic amyotrophic lateral sclerosis (ALS) showed that the common variant rs12608932 in gene UNC13A was associated with disease susceptibility. UNC13A regulates the release of neurotransmitters, including glutamate. Genetic risk factors that, in addition, modify survival, provide promising therapeutic targets in ALS, a disease whose etiology remains largely elusive. We examined whether UNC13A was associated with survival of ALS patients in a cohort of 450 sporadic ALS patients and 524 unaffected controls from a population-based study of ALS in The Netherlands. Additionally, survival data were collected from individuals of Dutch, Belgian, or Swedish descent (1767 cases, 1817 controls) who had participated in a previously published genome-wide association study of ALS. We related survival to rs12608932 genotype. In both cohorts, the minor allele of rs12608932 in UNC13A was not only associated with susceptibility but also with shorter survival of ALS patients. Our results further corroborate the role of UNC13A in ALS pathogenesis.
URI: 
ISSN: 0197-4580
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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