ArticleJournal of neurodevelopmental disorders2009
Choline transporter gene variation is associated with attention-deficit hyperactivity disorder.
Article in Journal of neurodevelopmental disorders, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- A Systematic Review and Meta-analysis of Chemical Exposures and Attention-Deficit/Hyperactivity Disorder in Children.Prevention science : the official journal of the Society for Prevention Research · 2024Pooled it
- Electro-acupuncture treatment for internet addiction: Evidence of normalization of impulse control disorder in adolescents.Chinese journal of integrative medicine · 2017Trial
- Mapping ADHD Heterogeneity and Biotypes by Topological Deviations in Morphometric Similarity Networks.JAMA psychiatry · 2026Article
- Mapping ADHD Heterogeneity and Biotypes through Topological Deviations in Morphometric Similarity Networks.medRxiv : the preprint server for health sciences · 2025Article
- An Open-Source Tool for Investigation of Differential RNA Expression Between Spinal Cord Cells of Male and Female Mice.Journal of neuroscience research · 2024Article
- Disrupted Choline Clearance and Sustained Acetylcholine ReleaseThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Cholinergic blockade of neuroinflammation: from tissue to RNA regulators.Neuronal signaling · 2022Review
- Attention-deficit/hyperactive disorder updates.Frontiers in molecular neuroscience · 2022Review
- Choline Transporter regulates olfactory habituation via a neuronal triad of excitatory, inhibitory and mushroom body neurons.PLoS genetics · 2021Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- Review
- Modulation of cholinergic activity through lynx prototoxins: Implications for cognition and anxiety regulation.Neuropharmacology · 2020Review
- Repetitive mild concussion in subjects with a vulnerable cholinergic system: Lasting cholinergic-attentional impairments in CHT+/- mice.Behavioral neuroscience · 2019Article
- New Insights Into Cholinergic Neuron Diversity.Frontiers in molecular neuroscience · 2019Review
- The neuroscience of cognitive-motivational styles: Sign- and goal-trackers as animal models.Behavioral neuroscience · 2018Article
- Hemicholinium-3 sensitive choline transport in human T lymphocytes: Evidence for use as a proxy for brain choline transporter (CHT) capacity.Neurochemistry international · 2017Article
- Personalized genetics of the cholinergic blockade of neuroinflammation.Journal of neurochemistry · 2017Review
- Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder.Psychiatric genetics · 2017Article
- Genetic associations with reflexive visual attention in infancy and childhood.Developmental science · 2017Article
- Differential impact of genetically modulated choline transporter expression on the release of endogenous versus newly synthesized acetylcholine.Neurochemistry international · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
The neurotransmitter acetylcholine (ACh) plays a critical role in brain circuits mediating motor control, attention, learning and memory. Cholinergic dysfunction is associated with multiple brain disorders including Alzheimer's Disease, addiction, schizophrenia and Attention-Deficit Hyperactivity Disorder (ADHD). The presynaptic choline transporter (CHT, SLC5A7) is the major, rate-limiting determinant of ACh production in the brain and periphery and is consequently upregulated during tasks that require sustained attention. Given the contribution of central cholinergic circuits to the control of movement and attention, we hypothesized that functional CHT gene variants might impact risk for ADHD. We performed a case-control study, followed by family-based association tests on a separate cohort, of two purportedly functional CHT polymorphisms (coding variant Ile89Val (rs1013940) and a genomic SNP 3' of the CHT gene (rs333229), affording both a replication sample and opportunities to reduce potential population stratification biases. Initial genotyping of pediatric ADHD subjects for two purportedly functional CHT alleles revealed a 2-3 fold elevation of the Val89 allele (n = 100; P = 0.02) relative to healthy controls, as well as a significant decrease of the 3'SNP minor allele in Caucasian male subjects (n = 60; P = 0.004). In family based association tests, we found significant overtransmission of the Val89 variant to children with a Combined subtype diagnosis (OR = 3.16; P = 0.01), with an increased Odds Ratio for a haplotype comprising both minor alleles. These studies show evidence of cholinergic deficits in ADHD, particularly for subjects with the Combined subtype, and, if replicated, may encourage further consideration of cholinergic agonist therapy in the disorder.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.