rs140701

This is a intron variant variant in the SLC6A4 gene.

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Research that mentions this SNP (3)

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Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data
AssociationN=3,564Jiekun Yang et al.(2014)· Human Genetics

This association study examined 3,564 subjects from the SAGE dataset (2,428 European-American, 1,136 African-American) to determine associations between 88 variants in HTR3A, HTR3B, and SLC6A4 genes and alcohol, cocaine, and nicotine dependence. Individual SNP analysis found rs2066713 in SLC6A4 significantly associated with FTND in African-Americans (beta = -1.39, P = 1.6E-04). Haplotype analysis identified major haplotypes in HTR3B and HTR3A significantly associated with alcohol dependence and FTND. GMDR interaction analysis revealed significant SNP-by-SNP interactions within these three genes affecting multiple addictive phenotypes.

Traits studied:Alcohol DependenceCocaine DependenceFagerström Test for Nicotine DependenceNicotine Dependence
PubMedDOIMetascience Observatory
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Development and Validation of a High-Throughput Screening Method for Two Polymorphisms in the Serotonin Transporter Gene
MethodsN=169Moritz Eidens et al.(2009)· Molecular Diagnosis & Therapy

Development and validation of a high-throughput real-time PCR method for genotyping two SLC6A4 polymorphisms (rs140701 and rs2066713). In 169 individuals (87 mentally disordered, 82 healthy controls), allele frequencies were 68% for rs140701 and 61% for rs2066713, with no significant differences between groups. The LightCycler real-time PCR method proved faster and more reliable than traditional RFLP methods for routine screening.

Traits studied:AnxietyBipolar disorderDepressionMental disordersObsessive-compulsive disorderPanic disorderSchizophrenia
DOIMetascience Observatory
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SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families
AssociationN=364Kollins SH et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Haplotype-tagging SNP analysis in 364 individuals from 152 ADHD families identified significant associations between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596) and between reaction time variability and a SNP in the NET gene (rs3785155). These findings suggest that commission errors and reaction time variability are valid ADHD endophenotypes linked to dopaminergic and noradrenergic pathways.

Traits studied:ADHDCommission errors (Continuous Performance Task)Detectability (CPT)Hit reaction timeHit reaction time standard errorReaction time variability (Continuous Performance Task)
PubMedDOIMetascience Observatory

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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