rs7224199

This variant is located in the SLC6A4 gene.

ClinVar annotation

Likely Benign★★★
2 submitters1 publication

Behavior disorder; not provided

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Research that mentions this SNP (1)

Neurotransmission and bipolar disorder: A systematic family‐based association study
AssociationN=1,115Jiajun Shi et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A family-based association study examined 1005 tag SNPs across 90 genes from five neurotransmission systems (dopaminergic, serotonergic, noradrenergic, GABAergic, and glutamatergic) in 304 bipolar disorder families. Gene-wide significant associations were found for GRIA1 (rs2926835), GRIN2D (rs1799281), and QDPR (rs744731) for allelic associations, and GRIN2C, QDPR, and SLC6A3 for haplotypic associations; however, none survived correction for multiple testing across all systems. The study found no significant SNP associations with comorbid sub-phenotypes or gene-gene interactions, suggesting common variants in these neurotransmission genes do not have major effects on bipolar disorder risk.

Traits studied:AlcoholismBipolar I disorderBipolar disorderPsychosisSchizoaffective disorder bipolar typeSubstance abuseSuicide attempts

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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