rs6039806

This variant is located in the SNAP25 gene.

ClinVar annotation

Benign★★★
2 submitters1 publication
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Research that mentions this SNP (3)

Candidate gene studies of ADHD: a meta-analytic review
Meta-analysisIan R. Gizer et al.(2009)· Human Genetics

Meta-analytic review of candidate gene studies for childhood ADHD examining 19 genes. Significant associations identified for DAT1 (3' UTR VNTR: OR=1.12, p=0.028; rs27072: OR=1.20, p=0.006), DRD4 (exon 3 VNTR: OR=1.33, p=0.00007; rs1800955: OR=1.21, p=0.007), DRD5, 5HTT, HTR1B (rs6296: OR=1.11, p=0.010), and SNAP25 (rs3746544: OR=1.15, p=0.030).

Traits studied:Attention-deficit/hyperactivity disorderChildhood ADHD
Conduct disorder and ADHD: Evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study
AssociationN=590Richard J.L. Anney et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Analysis of 554 SNPs across 47 candidate genes in 590 families from the IMAGE ADHD genetics study found no overall parent-of-origin effect (χ² = 1.82, P = 0.117) for ADHD transmission. Five SNP markers in DDC, TPH2, and SLC6A2 showed nominal associations (P < 0.01) with ADHD combined subtype when restricted to maternal or paternal transmission only, but these findings likely represent false positives given multiple comparisons.

Traits studied:ADHD combined subtypeAttention-deficit/hyperactivity disorder (ADHD)
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)

About SNAP25

Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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