rs1186902
This is a protein-altering variant in the GABRR1 gene.
▶Research that mentions this SNP (2)
▶Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremorAssociationN=450Elena García-Martín et al.(2011)· Journal of Neurology
Case-control study of 200 essential tremor (ET) patients and 250 healthy Spanish controls found no significant associations between GABRR1/GABRR2/GABRR3 polymorphisms (rs12200969, rs1186902, rs282129, rs832032) and ET risk. The GABRR polymorphisms were also unrelated to age of onset, tremor localization, or response to ethanol treatment.
▶GABRR1andGABRR2, encoding the GABA‐A receptor subunits ρ1 and ρ2, are associated with alcohol dependenceAssociationN=1,923Xiaoling Xuei et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Family-based association study of GABRR1 and GABRR2 (GABA-A receptor ρ1 and ρ2 subunits) with alcohol dependence in 1,923 European Americans from 219 multiplex families. Six SNPs were significantly associated with DSM-IV alcohol dependence (p<0.05), with rs282129 (Met430Thr coding SNP in GABRR2, p=0.03) being notable. Associations were strongest in individuals with early-onset alcohol dependence (age ≤21), with 16 SNPs showing significant association in this subgroup.
About GABRR1
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
View all GABRR1 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…