rs2228622
This is a synonymous variant in the SLC1A1 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Influence of polymorphisms in genes SLC1A1, GRIN2B, and GRIK2 on clozapine-induced obsessive–compulsive symptomsAssociationN=250Jun Cai et al.(2013)· Psychopharmacology
This study examined whether polymorphisms in glutamate-related genes SLC1A1, GRIN2B, and GRIK2 are associated with clozapine-induced obsessive-compulsive symptoms in 250 Han Chinese schizophrenia patients. Rs890 (GRIN2B) showed significant association with OC symptoms (OR=1.75, p=0.002), while rs2228622 (SLC1A1) showed trends (OR=1.68, p=0.017). A significant gene-gene interaction between rs2228622 and rs890 was identified (p=0.0021), with AA/TT genotypes showing elevated symptom severity.
▶Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental
This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.
▶Association of the Glutamate Transporter Gene SLC1A1 With Atypical Antipsychotics–Induced Obsessive-compulsive SymptomsAssociationN=1,123Jun Soo Kwon et al.(2009)· Archives of General Psychiatry
Case-control association study examining six SNPs in the SLC1A1 (glutamate transporter) gene in 615 Korean OCD patients and 508 healthy controls. While no significant associations were found between individual SNPs or haplotypes and OCD status (all p > 0.05), the C-T-G haplotype at rs301430-rs301434-rs3087879 was significantly associated with higher personal distress scores (p = 0.0419). Results suggest SLC1A1 variants may not contribute to OCD development but may influence trait empathy dimensions.
▶Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjectsReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental
A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.
About SLC1A1
This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
View all SLC1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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