rs1805476
This variant is located in the GRIN2B gene.
▶Research that mentions this SNP (3)
▶Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.ReviewMarta Sánchez Delgado et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This review examines the genetic and epigenetic basis of Tourette Syndrome (TS), a neurodevelopmental disorder with high heritability (0.45-0.77). The paper reviews candidate gene associations including variants in SLITRK1 (rs9593835, rs9546538, rs9531520), DRD2/ANKK1 (rs1800497), ADORA1/ADORA2A (rs2228079, rs5751876), and other dopaminergic genes, along with a large GWAS in 1285 cases and 4964 controls highlighting rs7868992 in COL27A1. The review proposes that epigenetic mechanisms (DNA methylation, histone modifications, non-coding RNAs) may link genetic susceptibility with environmental factors in TS pathogenesis.
▶Association of GRIN1 and GRIN2A‐D With schizophrenia and genetic interaction with maternal herpes simplex virus‐2 infection affecting disease riskAssociationN=2,484Ditte Demontis et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This Danish case-control association study examined SNP variations in GRIN1 and GRIN2A-D genes (encoding NMDA receptor subunits) in 984 schizophrenia cases and 1,500 controls. Nine SNPs in GRIN2B were significantly associated with schizophrenia, with rs1806194 remaining significant after Bonferroni correction (P=0.0008). Notably, strong gene-environment interactions were found between GRIN2B genetic variation and maternal HSV-2 infection in 365 cases and 365 controls, with rs1805539 (P=0.0001) and rs1806205 (P=0.0008) remaining significant after correction.
▶NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific mannerAssociationN=812Larissa Arning et al.(2007)· Human Genetics
This association study examined genetic modifiers of age at onset in Huntington disease (HD) by fine-mapping GRIN2A and GRIN2B glutamate receptor genes in 250 HD patients. The study identified sex-specific effects, with GRIN2B C2664T (rs1806201) showing significant association in females (R²=0.56, p=0.005) but not males. Combined GRIN2A and GRIN2B variants explained 7.2% additional variance in age at onset beyond the pathogenic CAG repeat expansion.
About GRIN2B
This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
View all GRIN2B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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