期刊
NEUROBIOLOGY OF AGING
卷 33, 期 3, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2011.10.029
关键词
Amyotrophic lateral sclerosis (ALS); UNC13A; rs12608932; Survival
资金
- Prinses Beatrix Fonds
- VSB
- H. Kersten and M. Kersten (Kersten Foundation)
- Netherlands ALS Foundation
- Adessium Foundation (L.H.v.d.B.)
- Brain Foundation of The Netherlands
- Thierry Latran Foundation
- Netherlands Organization of Scientific Research NWO Investments [175.010.2005.011, 911-03-012]
- Research Institute for Diseases in the Elderly (RIDE) [014-93-015]
- Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) [050-060-810]
- Swedish Brain Research Foundation
- Hallstens Research Foundation
- Swedish Medical Society
- Bjorklund Foundation for ALS Research
- Swedish Association for the Neurologically Disabled
- University of Leuven (Methusalem)
- Belgian Federal Science Policy Office [P6/43]
- European Community [259867]
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. (C) 2012 Elsevier Inc. All rights reserved.
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