Association study of genetic variants of SV2C and attention-deficit/hyperactivity disorder

Abstract

Various animal models of the pathophysiology of ADHD suggest that several neurotransmitter systems are involved in its pathogenic mechanism. The effectiveness of pharmacotherapy and imaging findings support the assumption of a particular involvement of monoaminergic neurotransmitters. In neuronal signal transmission, synaptic vesicles are important for the release and reuptake of neurotransmitters. The SV2C gene investigated in this dissertation is located on the long arm of chromosome 5q13.3 and encodes a protein situated in the membrane of synaptic vesicles and involved in regulating exocytosis during neurotransmission. A previous molecular genetic study identified a duplication that partially includes SV2C. This duplication could result in dysregulation of SV2C and of its overall functionality in neurotransmission. SV2C is therefore an interesting candidate gene for ADHD. The aim of this dissertation is to molecularly investigate SV2C using three selected polymorphisms from the promoter region for an association with ADHD.