Death-associated protein kinase 1 variation and Parkinson's disease
| Autor: | J C, Dachsel, C, Wider, C, Vilariño-Güell, J O, Aasly, A, Rajput, A H, Rajput, T, Lynch, D, Craig, A, Krygowska-Wajs, B, Jasinska-Myga, G, Opala, M, Barcikowska, K, Czyzewski, R-M, Wu, M G, Heckman, R J, Uitti, Z K, Wszolek, M J, Farrer, O A, Ross |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Aged 80 and over Male Genetic Variation Parkinson Disease Middle Aged Polymorphism Single Nucleotide Death-Associated Protein Kinases Young Adult Case-Control Studies Calcium-Calmodulin-Dependent Protein Kinases Humans Female Genetic Predisposition to Disease Longitudinal Studies Protein Multimerization Apoptosis Regulatory Proteins Aged |
| Zdroj: | European journal of neurology. 18(8) |
| ISSN: | 1468-1331 |
| Popis: | Mutations of the LRRK2 gene are now recognized as major risk factors for Parkinson's disease. The Lrrk2 protein is a member of the ROCO family, which also includes Lrrk1 and Dapk1. Functional genetic variants of the DAPK1 gene (rs4877365 and rs4878104) have been previously associated with Alzheimer's disease. Herein, we assessed the role of DAPK1 variants (rs4877365 and rs4878104) in risk of Parkinson's disease with Sequenom iPLEX genotyping, employing one Taiwanese series (391 patients with Parkinson's disease, 344 controls) and five separate Caucasian series' (combined sample size 1962 Parkinson's disease patients, 1900 controls). We observed no evidence of association for rs4877365 and rs4878104 and risk of Parkinson's disease in any of the individual series or in the combined Caucasian series under either an additive or recessive model. These specific DAPK1 intronic variants do not increase the risk of Parkinson's disease. However, further functional studies are required to elucidate the potential therapeutic implications with the dimerization of the Dapk1 and Lrrk2 proteins. |
| Databáze: | OpenAIRE |
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