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Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study
Anders Breinbjerg1,2, Cecilie Siggaard Jørgensen1,2, G Bragi Walters3,4
1Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
The Journal of Urology
|August 2, 2024
Summary
Genetic variants on chromosomes 6 and 20 are linked to childhood daytime urinary incontinence (DUI). These findings implicate PRDM13 and RIPOR3 genes, offering potential new treatment targets for this condition.
Area of Science:
- Genetics
- Pediatrics
- Urology
Background:
- Childhood incontinence is a stigmatized condition with limited understanding of its underlying causes.
- There is a need to identify genetic factors contributing to daytime urinary incontinence (DUI) in children.
Purpose of the Study:
- To identify genetic variants associated with an increased risk of daytime urinary incontinence (DUI) in children.
- To explore the genetic architecture of childhood DUI.
Main Methods:
- A genome-wide association study (GWAS) was conducted using the Danish iPSYCH2015 cohort, including 3024 cases and 30,240 controls.
- Replication analysis was performed in the Icelandic deCODE cohort.
- Single-nucleotide polymorphism (SNP) heritability and cross-trait genetic correlations were calculated.
Main Results:
- Genome-wide significant risk variants were identified on chromosomes 6 (rs12210989, implicating PRDM13) and 20 (rs4809801, implicating RIPOR3).
- Heritability estimates for DUI liability ranged from 10.20% to 15.30%.
- Positive genetic correlation was observed between DUI and nocturnal enuresis, and polygenic risk for DUI was associated with attention-deficit/hyperactivity disorder and BMI.
Conclusions:
- Common genetic variants play a role in the risk of childhood daytime urinary incontinence.
- The identified genes are involved in neuronal development and detrusor smooth muscle function.
- These genetic insights may facilitate the development of novel therapeutic strategies for childhood DUI.
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