rs4583306
This is a intron variant variant in the SLC6A4 gene.
▶Research that mentions this SNP (1)
▶Family‐based association study of TPH1 and TPH2 polymorphisms in autismAssociationN=42Nicolas Ramoz et al.(2006)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Family-based association study in 42 Antioquia families examining serotonergic gene variants and autism. Found significant associations with SLC6A4 variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03), and evidence of epistasis between SLC6A4 and HTR2A (p<0.001) in autism etiology. The haplotype 5HTTLPR-rs4583306 (S-G) showed tripled autism risk (OR=3.4, p=0.01).
About SLC6A4
This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]
View all SLC6A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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