ArticleEuropean archives of psychiatry and clinical neuroscience2014
Further evidence for the association between a polymorphism in the promoter region of SLC6A3/DAT1 and ADHD: findings from a sample of adults.
Article in European archives of psychiatry and clinical neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Association study and a systematic meta-analysis of the VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention-deficit hyperactivity disorder.Journal of neural transmission (Vienna, Austria : 1996) · 2019Pooled it
- Attention-deficit hyperactivity disorder in adults: A systematic review and meta-analysis of genetic, pharmacogenetic and biochemical studies.Molecular psychiatry · 2016Pooled it
- Presence of recombination hotspots throughout SLC6A3.PloS one · 2019Trial
- The neurodivergent blood donor: Fairness, discrimination, screening, and behavior.Transfusion · 2026Article
- Kappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant.Molecular psychiatry · 2025Article
- Analysis of targeted and whole genome sequencing of PacBio HiFi reads for a comprehensive genotyping of gene-proximal and phenotype-associated Variable Number Tandem Repeats.PLoS computational biology · 2025Article
- The Relationship between Gene SLC6A3 Variable Number of Tandem Repeat (VNTR) and Attention-Deficit/Hyperactivity Disorder.Iranian journal of psychiatry · 2024Article
- Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children.Molecular neurobiology · 2024Article
- Functional SLC6A3 polymorphisms differentially affect autism spectrum disorder severity: a study on Indian subjects.Metabolic brain disease · 2022Article
- Analysis of Relationships betweenGenes · 2021Article
- Short-active photoperiod gestation induces psychiatry-relevant behavior in healthy mice but a resiliency to such effects are seen in mice with reduced dopamine transporter expression.Scientific reports · 2020Article
- Association analyses reveal gender-specific associations of DAT1 40-bp VNTR and -839C/T polymorphisms with obsessive-compulsive disorder and obsessive-compulsive symptoms.Molecular biology reports · 2019Article
- Common and specific genes and peripheral biomarkers in children and adults with attention-deficit/hyperactivity disorder.The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry · 2018Review
- Separating the wheat from the chaff: systematic identification of functionally relevant noncoding variants in ADHD.Molecular psychiatry · 2016Article
- Dopamine transporter gene may be associated with bipolar disorder and its personality traits.European archives of psychiatry and clinical neuroscience · 2015Article
- Prediction of methylphenidate treatment outcome in adults with attention-deficit/hyperactivity disorder (ADHD).European archives of psychiatry and clinical neuroscience · 2014Review
- Historical aspects of Mozart's mental health and diagnostic insights of ADHD and personality disorders.European archives of psychiatry and clinical neuroscience · 2014Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The dopamine transporter (SLC6A3/DAT1) plays a key role in the regulation of dopaminergic neurotransmission and is the major site of action for methylphenidate, a first-line medication for attention deficit hyperactivity disorder (ADHD). Most genetic association studies with ADHD have investigated a 40-bp variable number of tandem repeats (VNTR) polymorphism in the 3'-untranslated region (UTR) of the DAT1, but these investigations have reported heterogeneous findings. The few studies focused on the 5' region have reported promising results. Despite rs2652511 not being included, nor having any proxy SNP available in GWAS, the few candidate gene studies that analyzed it suggested an association with ADHD and schizophrenia. Here, we analyzed the -839 C/T (rs2652511) promoter variant and the 3'-UTR and intron 8 (Int8) VNTR polymorphisms in 522 adults with ADHD and 628 blood donor controls. The diagnostic procedures followed the DSM-IV criteria. A significant association was detected (P = 0.002) between the rs2652511 C-allele with ADHD. In addition, the 6-repeat allele of Int8 VNTR was associated with higher inattention scores (P = 0.034). The haplotype analysis including DAT1 3'-UTR and Int8 VNTR polymorphisms did not reveal associations with ADHD susceptibility or severity dimensions. These findings extend to adult samples previous findings from children samples on the role of the rs2652511 polymorphism in the promoter region of DAT1 as a risk factor for ADHD susceptibility.
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