期刊
JOURNAL OF MOLECULAR NEUROSCIENCE
卷 47, 期 3, 页码 425-430出版社
HUMANA PRESS INC
DOI: 10.1007/s12031-011-9669-1
关键词
Parkinson's disease; Alpha-synuclein; DNA polymorphisms; Genetic risk
资金
- Fundacion Parkinson Asturias
- Obra Social Cajastur
- Spanish European Union [FIS-05/008, 08/0915]
- FICYT-Principado de Asturias
- Spanish Ministry of Science and Technology
- European Social Fund
- Spanish Ministry of Education and Science [SAF2006-10126]
- Fundacio La Marato de TV3 [061131]
- UTE, Spain
Alpha-synuclein gene (SNCA) polymorphisms have been associated with the common sporadic form of Parkinson's disease (PD). We searched for DNA variants at the SNCA 3' UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165 SNCA 3' UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six SNCA 3' UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (p = 0.0001; odd ratio = 1.37, 95%CI = 1.19-1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on SNCA expression.
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