Background:Tourette Syndrome (TS) is a neurodevelopmental disorder that presents with
motor and vocal tics early in childhood. The aim of this study was to investigate
genetic variants in the 3' untranslated region (3'UTR) of TS candidate genes with
a putative link to microRNA (miRNA) mediated regulation or gene expression. Methods:We
used anin silicoapproach to identify 32 variants in the 3'UTR of 18 candidate genes
putatively changing the binding site for miRNAs. In a sample composed of TS cases
and controls (n= 290), as well as TS family trios (n= 148), we performed transmission
disequilibrium test (TDT) and meta-analysis. Results:We found positive association
of rs3750486 in the LIM homeobox 6 (LHX6) gene (p= 0.021) and rs7795011 in the inner
mitochondrial membrane peptidase subunit 2 (IMMP2L) gene (p= 0.029) with TS in our
meta-analysis. The TDT showed an over-transmission of the A allele of rs1042201 in
the arylacetamide deacetylase (AADAC) gene in TS patients (p= 0.029). Conclusion:This
preliminary study provides further support for the involvement of LHX6, IMMP2L, and
AADAC genes, as well as epigenetic mechanisms, such as altered miRNA mediated gene
expression regulation in the etiology of TS.
