https://scholars.lib.ntu.edu.tw/handle/123456789/463690
標題: | Death-associated protein kinase 1 variation and Parkinson's disease | 作者: | Dachsel J.C Wider C Vilari?o-G?ell C Aasly J.O Rajput A Rajput A.H Lynch T Craig D Krygowska-Wajs A Jasinska-Myga B Opala G Barcikowska M Czyzewski K RUEY-MEEI WU Heckman M.G Uitti R.J Wszolek Z.K Farrer M.J Ross O.A. |
公開日期: | 2011 | 卷: | 18 | 期: | 8 | 起(迄)頁: | 1090-1093 | 來源出版物: | European Journal of Neurology | 摘要: | Background and purpose: 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. Methods: 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). Results: 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. Conclusion: 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. ? 2010 The Author(s). European Journal of Neurology ? 2010 EFNS. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/463690 | ISSN: | 1351-5101 | DOI: | 10.1111/j.1468-1331.2010.03255.x | SDG/關鍵字: | death associated protein kinase; death associated protein kinase 1; leucine rich repeat kinase 2; unclassified drug; adult; aged; article; Caucasian; controlled study; female; gene mutation; genetic association; genetic risk; genetic susceptibility; genetic variability; genotype; human; intron; major clinical study; male; Parkinson disease; priority journal; risk factor; single nucleotide polymorphism; Taiwan |
顯示於: | 醫學系 |
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