rs750616287
This variant is located in the RASGRP1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶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.
About RASGRP1
This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
View all RASGRP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…