rs150504822
This is a variant in the SLITRK1 gene that changes a threonine to an serine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencingAssociationN=908Yosuke Eriguchi et al.(2017)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study identified rare genetic variants in the opioid receptor genes OPRK1 and OPRM1 as susceptibility factors for Tourette syndrome in a French cohort of 120 patients. Exome sequencing combined with hypothesis-driven candidate gene screening revealed an excess of rare variants in OPRK1 (4.2% in cases vs 0.5-0.8% in controls, p=0.003) and a weaker association with OPRM1 (6.7% in cases vs 2.3% in controls, p=0.048). Functional studies in zebrafish demonstrated that oprk1 knockdown affects motor activity during early development, supporting a role for opioid receptor dysfunction in tic pathogenesis.
▶Association of Intronic Variants of the BTBD9 Gene With Tourette SyndromeAssociationN=382Jean-Baptiste Rivière et al.(2009)· Archives of Neurology
A targeted re-sequencing study of 382 individuals with Tourette Syndrome investigated four candidate genes (HDC, SLITRK1, BTBD9, SLC6A4) and identified five rare potentially functional variants: one novel HDC coding variant (p.I522L) and four SLITRK1 variants including rs146746846 and rs150504822. Notably, rs150504822 is in linkage disequilibrium with rs6563353, which has been associated with citalopram-induced side effects in depression patients.
About SLITRK1
This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
View all SLITRK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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