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- Title
Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
- Authors
Schmitt, Ina; Wüllner, Ullrich; van Rooyen, Jan Pierre; Khazneh, Hassan; Becker, Julian; Volk, Alexander; Kubisch, Christian; Becker, Tim; Kostic, Vladimir S; Klein, Christine; Ramirez, Alfredo
- Abstract
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.
- Subjects
ALPHA-synuclein; PARKINSON'S disease &; genetics; NON-coding RNA; MICRORNA genetics; ALLELES; CONTROL groups; GENETIC regulation
- Publication
European Journal of Human Genetics, 2012, Vol 20, Issue 12, p1265
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2012.84