Abstract

The dopamine D4 receptor (DRD4) promoter (−616; rs747302) has been associated with primary nocturnal enuresis (PNE); however, its relationship with neuroimaging has not been investigated. Therefore, we assessed the effects of the DRD4 −616 C/G single nucleotide polymorphism on the gray matter volume (GMV) and functional connectivity density (FCD) during resting-state functional magnetic resonance imaging in children with PNE using voxel-based morphometry and FCD methods. Genomic and imaging data were obtained from 97 children with PNE and 105 healthy controls. DRD4 −616 C/G was genotyped. Arousal from sleep (AS) was assessed on a scale of 1–8. Both the main effect of genotype and the group (PNE/control)-by-genotype interaction on GMV and FCD were calculated. Our results showed that C-allele carriers were associated with a higher AS, decreased GMV and FCD in the pregenual anterior cingulate cortex; children with PNE carrying the C allele exhibit decreased GMV and FCD in the thalamus; however, controls carrying the C allele exhibit increased FCD in the posterior cingulate cortex. These effects of genetic variation of the DRD4 locus may help us understand the genetic susceptibility of the DRD4 −616 C allele to PNE.

Highlights

  • The dopamine D4 receptor (DRD4) promoter (−616; rs747302) has been associated with primary nocturnal enuresis (PNE); its relationship with neuroimaging has not been investigated

  • Our results showed that C-allele carriers were associated with a higher Arousal from sleep (AS), decreased gray matter volume (GMV) and functional connectivity density (FCD) in the pregenual anterior cingulate cortex; children with PNE carrying the C allele exhibit decreased GMV and FCD in the thalamus; controls carrying the C allele exhibit increased FCD in the posterior cingulate cortex

  • There were no significant differences between genotype (C/G) with regard to gender, age, years of education, full-scale intelligence quotient (FIQ) scores or framewise displacement (FD) (Tables 1 and 2)

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Summary

Introduction

The dopamine D4 receptor (DRD4) promoter (−616; rs747302) has been associated with primary nocturnal enuresis (PNE); its relationship with neuroimaging has not been investigated. We assessed the effects of the DRD4 −616 C/G single nucleotide polymorphism on the gray matter volume (GMV) and functional connectivity density (FCD) during resting-state functional magnetic resonance imaging in children with PNE using voxel-based morphometry and FCD methods. The purpose of the study was to assess effects of the DRD4 −616 C/G SNP on the gray matter volume (GMV) and resting state functional connectivity (rsFC) in children with PNE and healthy controls using voxel-based morphometry (VBM) and functional connectivity density (FCD) methods. Both the effect of genotype and the group-genotype interaction were evaluated in the VBM and FCD analyses

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