rs7858819
This is a regulatory region variant variant in the SLC1A1 gene.
▶Research that mentions this SNP (1)
▶A Haplotype Containing Quantitative Trait Loci for SLC1A1 Gene Expression and Its Association With Obsessive-Compulsive DisorderAssociationN=987Jens R. Wendland et al.(2009)· Archives of General Psychiatry
Case-control study of 325 OCD probands and 662 controls identifying a three-SNP haplotype (rs3087879, rs301430, rs7858819) significantly associated with obsessive-compulsive disorder (odds ratio 1.89, p=0.001). rs301430 was confirmed as a functional expression quantitative trait locus, and rs3933331 showed association with OCD-related hoarding symptoms. The findings implicate SLC1A1, encoding the neuronal glutamate transporter, as a susceptibility gene for OCD.
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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