Choline transporter gene variation is associated with attention-deficit hyperactivity disorder

Brett A. English, Maureen K. Hahn, Ian R. Gizer, Michelle Mazei-Robison, Angela Steele, Daniel M. Kurnik, Mark A. Stein, Irwin D. Waldman, Randy D. Blakely
2009 Journal of Neurodevelopmental Disorders  
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, ratelimiting determinant of ACh production in the brain and periphery and is consequently upregulated during tasks that
more » ... equire 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 Brett A. English, Maureen K. Hahn and Ian R.Gizer have contributed equally to this study. Electronic supplementary material The online version of this article (
doi:10.1007/s11689-009-9033-8 pmid:21547719 pmcid:PMC3164006 fatcat:7bpjq7ryd5aeznpv563dzc55me