rs42460

This variant is located in the SLC6A2 gene.

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ClinVar annotation

Uncertain Significance
1 submitter

Uterine carcinosarcoma

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Research that mentions this SNP (2)

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Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: A preliminary study
AssociationN=474Joseph Biederman et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This family-based association study investigated four ADHD candidate genes (COMT, SLC6A2, MAOA, SLC6A4) for sexually dimorphic genetic effects in 474 ADHD-affected offspring. The Met allele of COMT Val158Met showed stronger association in males (OR=1.42, p=0.003) but not females (p=0.936), and when combined with prior data showed significant gender effects (p=0.007). SLC6A2 and MAOA also showed sex-stratified associations, supporting the hypothesis that ADHD risk genes have sexually dimorphic effects.

Traits studied:Attention-Deficit/Hyperactivity Disorder (ADHD)
PubMedDOIMetascience 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 SLC6A2

This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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