Abstract

Background Obsessive–compulsive disorder (OCD) is a chronic neurodevelopmental disorder that affects up to 3% of the general population. Although epigenetic mechanisms play a role in neurodevelopment disorders, epigenetic pathways associated with OCD have rarely been investigated. Oxytocin is a neuropeptide involved in neurobehavioral functions. Oxytocin has been shown to be associated with the regulation of complex socio-cognitive processes such as attachment, social exploration, and social recognition, as well as anxiety and other stress-related behaviors. Oxytocin has also been linked to the pathophysiology of OCD, albeit inconsistently. The aim of this study was to investigate methylation in two targets sequences located in the exon III of the oxytocin receptor gene (OXTR), in OCD patients and healthy controls. We used bisulfite sequencing to quantify DNA methylation in peripheral blood samples collected from 42 OCD patients and 31 healthy controls. ResultsWe found that the level of methylation of the cytosine-phosphate-guanine sites in two targets sequences analyzed was greater in the OCD patients than in the controls. The higher methylation in the OCD patients correlated with OCD severity. We measured DNA methylation in the peripheral blood, which prevented us from drawing any conclusions about processes in the central nervous system.ConclusionTo our knowledge, this is the first study investigating DNA methylation of the OXTR in OCD. Further studies are needed to evaluate the roles that DNA methylation and oxytocin play in OCD.

Highlights

  • Obsessive–compulsive disorder (OCD) is a chronic neurodevelopmental disorder that affects up to 3% of the general population

  • The OCD patients scored higher on the Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI), indicating that the population median for the healthy controls was lower than was that of the OCD patients, with a high confidence

  • Our analysis revealed hypermethylation in the CpG sites of two sequences targets located in the exon III, which are part of the CpG island that comprise exons I–III of oxytocin receptor gene (OXTR) gene, in patients with OCD when compared to healthy subjects and a positive correlation between hypermethylation and OCD symptom severity

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Summary

Introduction

Obsessive–compulsive disorder (OCD) is a chronic neurodevelopmental disorder that affects up to 3% of the general population. Epigenetic mechanisms play a role in neurodevelopment disorders, epigenetic pathways associated with OCD have rarely been investigated. Oxytocin has been shown to be associated with the regulation of complex socio-cognitive processes such as attachment, social exploration, and social recognition, as well as anxiety and other stress-related behaviors. The aim of this study was to investigate methylation in two targets sequences located in the exon III of the oxytocin receptor gene (OXTR), in OCD patients and healthy controls. Obsessive–compulsive disorder (OCD) [1] is a chronic psychiatric illness with a lifetime prevalence of 1–3% in the general population [2]. The neuropeptide oxytocin has been linked to emotional regulation processes in recent years. Its therapeutic use has gained momentum, and several trials have investigated the effects of oxytocin administration for the emotional responses of psychiatric disorder patients [6].

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