rs10521329

This is a intron variant variant in the SLC6A2 gene.

Research that mentions this SNP (2)

Further evidence of association between amphetamine response and SLC6A2 gene variants
AssociationN=159Andrea M. Dlugos et al.(2009)· Psychopharmacology

This study examined 11 SLC6A2 gene SNPs in 159 healthy Caucasian volunteers using a double-blind crossover design with placebo and D-amphetamine (10 and 20 mg). SNPs rs36017 and rs1861647 were significantly associated with higher ratings of elation and vigor after 20 mg D-amphetamine, with p-values of 0.033 and 0.002 respectively. Haplotype blocks also showed significant associations with vigor responses.

Traits studied:Amphetamine response (elation)Amphetamine response (vigor)Drug response phenotype
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)

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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