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Войти в исследования Journal of pediatric urology · 2026
Circulating miRNAs as an epigenetic footprint in hypospadias.
СтатьяНазвание и аннотация: Перевод в очереди
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Yildiz Sadettin, Sezginer Guler Hazal, Inanc Irem, Atli Engin, Korkmaz Selcuk, Avlan Dincer
Аннотация
INTRODUCTION: Hypospadias is a common congenital malformation with a complex etiology involving genetic susceptibility and environmental factors. MicroRNAs (miRNAs), as epigenetic modulators, are hypothesized to bridge these factors by regulating genes essential for urogenital development. The aim of this study was to investigate the expression profiles of specific miRNAs associated with AR, ESR1, and FGFR2 genes in both tissue and systemic circulation (blood) of children with hypospadias compared to healthy controls, to evaluate their potential as epigenetic footprints.
METHODS: The study included 20 boys undergoing surgical repair for isolated hypospadias and 20 age-matched healthy boys undergoing routine circumcision. Preoperative venous blood and intraoperative foreskin tissue samples were collected from all participants. The expression levels of miR-203a-3p, miR-210, miR-218-5p, miR-22-3p, miR-302c-3p, miR-355-5p, and miR-488-5p were analyzed using quantitative Real-Time PCR (qRT-PCR).
RESULTS: In tissue samples, no statistically significant differences were observed in miRNA expression between the hypospadias and control groups. However, significant dysregulation was detected in blood samples. miR-203a-3p was significantly upregulated, while miR-210, miR-218-5p, miR-22-3p, miR-302c-3p, miR-355-5p, and miR-488-5p were significantly downregulated in the hypospadias group compared to controls. Furthermore, a significant source-dependent difference (tissue vs. blood) was observed exclusively within the patient group, whereas tissue and blood levels were similar in healthy controls.
DISCUSSION: The discrepancy between tissue and blood results suggests that while local tissue expression may normalize postnatally, the systemic circulation retains a distinct profile of these epigenetic modulators. These findings demonstrate that circulating miRNAs are significantly dysregulated in hypospadias patients, suggesting a potential association with systemic responses to developmental disruptions, rather than establishing a direct etiology.
CLINICAL/TRANSLATIONAL APPLICABILITY: This study demonstrates that specific circulating miRNA profiles are altered in hypospadias, suggesting a potential association with systemic epigenetic modulations rather than localized defects. These preliminary data provide a foundation for future comprehensive studies to explore their roles in developmental anomalies.
METHODS: The study included 20 boys undergoing surgical repair for isolated hypospadias and 20 age-matched healthy boys undergoing routine circumcision. Preoperative venous blood and intraoperative foreskin tissue samples were collected from all participants. The expression levels of miR-203a-3p, miR-210, miR-218-5p, miR-22-3p, miR-302c-3p, miR-355-5p, and miR-488-5p were analyzed using quantitative Real-Time PCR (qRT-PCR).
RESULTS: In tissue samples, no statistically significant differences were observed in miRNA expression between the hypospadias and control groups. However, significant dysregulation was detected in blood samples. miR-203a-3p was significantly upregulated, while miR-210, miR-218-5p, miR-22-3p, miR-302c-3p, miR-355-5p, and miR-488-5p were significantly downregulated in the hypospadias group compared to controls. Furthermore, a significant source-dependent difference (tissue vs. blood) was observed exclusively within the patient group, whereas tissue and blood levels were similar in healthy controls.
DISCUSSION: The discrepancy between tissue and blood results suggests that while local tissue expression may normalize postnatally, the systemic circulation retains a distinct profile of these epigenetic modulators. These findings demonstrate that circulating miRNAs are significantly dysregulated in hypospadias patients, suggesting a potential association with systemic responses to developmental disruptions, rather than establishing a direct etiology.
CLINICAL/TRANSLATIONAL APPLICABILITY: This study demonstrates that specific circulating miRNA profiles are altered in hypospadias, suggesting a potential association with systemic epigenetic modulations rather than localized defects. These preliminary data provide a foundation for future comprehensive studies to explore their roles in developmental anomalies.