Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression

Ina Schmitt, Ullrich Wüllner, Jan Pierre Van Rooyen, Hassan Khazneh, Julian Becker, Alexander Volk, Christian Kubisch, Tim Becker, Vladimir S. Kostic, Christine Klein, Alfredo Ramirez*

*Corresponding author for this work
10 Citations (Scopus)


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.

Original languageEnglish
JournalEuropean Journal of Human Genetics
Issue number12
Pages (from-to)1265-1269
Number of pages5
Publication statusPublished - 01.12.2012


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