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[Relationship between dopamine D4 receptor gene polymorphisms and primary nocturnal enuresis]
Xiao-Mei Dai1, Hong-Wei Ma, Yao Lu
1Department of Developmental Pediatrics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
Summary
Genetic variations in the dopamine D4 receptor (DRD4) gene, specifically the -616C/G polymorphism and the LCT haplotype, are linked to primary nocturnal enuresis (PNE) in children. These DRD4 gene changes may reduce protein expression, contributing to PNE.
Area of Science:
- Genetics
- Neuroscience
- Pediatrics
Context:
- Primary nocturnal enuresis (PNE) is a common condition in children.
- The dopamine D4 receptor (DRD4) gene is implicated in various neurological functions.
- Understanding genetic predispositions for PNE is crucial for developing targeted interventions.
Purpose:
- To investigate the association between dopamine D4 receptor (DRD4) gene polymorphisms and primary nocturnal enuresis (PNE) in a pediatric cohort.
- To analyze specific DRD4 gene polymorphisms (-1240L/S, -616C/G, -521C/T) and their frequencies in children with PNE compared to healthy controls.
Summary:
- Significant differences in allele and genotype frequencies of the DRD4-616C/G polymorphism were observed between children with PNE and controls.
- The LCT haplotype, comprising DRD4-1240L/S, -616C/G, and -521C/T, was found at a statistically higher frequency in PNE patients.
- These findings suggest that the DRD4-616C/G change and the LCT haplotype may influence DRD4 gene transcription and protein expression, potentially leading to PNE.
Impact:
- Identifies specific DRD4 gene polymorphisms and haplotypes associated with primary nocturnal enuresis.
- Provides insights into the molecular mechanisms potentially underlying PNE.
- May inform future genetic screening and therapeutic strategies for PNE.
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