rs28914832
This is a variant in the SLC6A4 gene that changes a isoleucine to an valine.
▶ClinVar annotation
Behavior disorder; Obsessive-compulsive disorder, susceptibility to
View on ClinVar →▶Research that mentions this SNP (1)
▶Association and gene–gene interaction of SLC6A4 and ITGB3 in autismAssociationN=290Ma DQ et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Family-based association study of 290 Caucasian families investigating SLC6A4 and ITGB3 genes in autism, stratified by family history. While individual SNPs showed no significant associations after multiple testing correction, stratification by family history revealed nominally significant associations at rs2066713 (SLC6A4) in both positive and negative family history groups, and rs3809865 (ITGB3) in positive family history families. Gene-gene interaction analysis confirmed a significant interaction between rs2066713 (SLC6A4) and rs5918 (ITGB3, Leu33Pro) (p=0.014, survived multiple testing correction), suggesting family history is an important index of genetic heterogeneity in autism susceptibility.
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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