rs3749380
This is a synonymous variant in the GRM7 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome‐wide association study of both common and rare variantsAssociationN=2,003Yang L. et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This GWAS examined 1,040 Han Chinese ADHD cases and 963 controls using Affymetrix 6.0 array genotyping. While no individual SNPs achieved genome-wide significance, the study found significant polygenic architecture with SNP-heritability of 0.42 (SE 0.13, P=0.0017) and increased burden of rare copy number variants (P=0.038, burden ratio 1.02). Pathway analyses revealed enrichment for neurodevelopmental genes in synaptic transmission, neuron projection, and cell adhesion, with a cross-ethnic SNP-genetic correlation of 0.39 (SE 0.15, P=0.0072) with European ADHD samples.
About GRM7
L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it 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 three 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
View all GRM7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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