期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 20, 期 12, 页码 1265-1269出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.84
关键词
miRNA-433; SNCA; 3 ' UTR; expression; Parkinson's disease
资金
- Volkswagen
- Hermann and Lilly Schilling Foundation
- Intramural Bonfor Research Program of the University Bonn
- Hans-Tauber Stiftung of the Deutsche Parkinson Vereinigung (dPV)
- Deutsche Forschungsgemeinschaft [Wu184/9-1]
Alpha-synuclein (SNCA) is a major risk gene for Parkinson's disease (PD) and increased SNCA gene dosage results in a parkinsonian syndrome in affected families. Regulatory regions relevant for SNCA expression include the 3' untranslated region (UTR), which among other regulatory elements contains several micro-RNA-binding sites. Interestingly, variants located in the 3' region of SNCA have been associated with PD in two genome-wide association studies. To test whether private mutations in this region contribute to PD, we sequenced the 3'UTR of SNCA in 1285 PD patients and 1120 age/sex-matched healthy controls. We found two rare variants, the one corresponding to the single nucleotide polymorphism rs145304567 and the novel variant c.*1004_1008delTTTTT. Although rs145304567 affects the putative-binding site of microRNA (miRNA) -433, the allele distribution was similar in PD patients and controls, and the expression of SNCA mRNA was not related to the genotype. Furthermore, a regulatory effect of miRNA-433 on SNCA expression levels was not detected. European Journal of Human Genetics (2012) 20, 1265-1269; doi:10.1038/ejhg.2012.84; published online 23 May 2012
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