rs274618
This variant is located in the GRM3 gene.
▶Research that mentions this SNP (1)
▶Genetic Association, Mutation Screening, and Functional Analysis of a Kozak Sequence Variant in the Metabotropic Glutamate Receptor 3 Gene in Bipolar DisorderAssociationN=2,251Radhika Kandaswamy et al.(2013)· JAMA Psychiatry
This genetic association and functional analysis study identified a rare Kozak sequence variant (rs148754219) in the GRM3 (metabotropic glutamate receptor 3) gene significantly associated with bipolar disorder in 1099 cases and 1152 controls (P=0.005, odds ratio 4.20). The variant was found in 1.7% of bipolar cases versus 0.3% of controls. Functional experiments demonstrated that the variant creates a novel transcription factor binding site and strongly suppresses translation of one GRM3 isoform, suggesting a mechanism for increased bipolar disorder risk.
About GRM3
L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]
View all GRM3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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