ArticleScientific reports2020
Altered mechanisms of genital development identified through integration of DNA methylation and genomic measures in hypospadias.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Aberrant methylation of mitochondrial genes as a link between oxidative phosphorylation dysregulation and the pathogenesis of hypospadias: a multiomics and clinical sample study.Translational andrology and urology · 2026Article
- Genetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.Genes · 2025Review
- MAFB-mediated CEBPA regulated human urothelium growth through Wnt/β-catenin signaling pathway.Genes & diseases · 2025Article
- Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.Epigenetics · 2024Review
- Maternal periconceptional folic acid supplementation and risk for fetal congenital genitourinary system defects.Pediatric research · 2024Article
- Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization.Animals : an open access journal from MDPI · 2023Article
- Role of epigenetics in the etiology of hypospadias through penile foreskin DNA methylation alterations.Scientific reports · 2023Article
- Quantitative proteomics reveals specific protein regulation of severe hypospadias.Translational andrology and urology · 2022Article
- Significance of Continuous Nursing of Omaha System in Children after Hypospadias Surgery and Its Influence on Infection Complications.Contrast media & molecular imaging · 2022Article
- Endocrine disrupting chemicals in the pathogenesis of hypospadias; developmental and toxicological perspectives.Current research in toxicology · 2021Review
- Exploring the risk of hypospadias in children born from mothers living close to a vineyard.PloS one · 2021Article
- Epigenetic Signatures in Hypospadias: Systematic Review.Journal of Indian Association of Pediatric SurgeonsArticle
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypospadias is a common birth defect where the urethral opening forms on the ventral side of the penis. We performed integrative methylomic, genomic, and transcriptomic analyses to characterize sites of DNA methylation that influence genital development. In case-control and case-only epigenome-wide association studies (EWAS) of preputial tissue we identified 25 CpGs associated with hypospadias characteristics and used one-sample two stage least squares Mendelian randomization (2SLS MR) to show a causal relationship for 21 of the CpGs. The largest difference was 15.7% lower beta-value at cg14436889 among hypospadias cases than controls (EWAS P = 5.4e-7) and is likely causal (2SLS MR P = 9.8e-15). Integrative annotation using two-sample Mendelian randomization of these methylation regions highlight potentially causal roles of genes involved in germ layer differentiation (WDHD1, DNM1L, TULP3), beta-catenin signaling (PKP2, UBE2R2, TNKS), androgens (CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z2P, EPHX1, CD33/SIGLEC3, SIGLEC5, SIGLEC7, KLK5, KLK7, KLK10, KLK13, KLK14), and reproductive traits (ACAA1, PLCD1, EFCAB4B, GMCL1, MKRN2, DNM1L, TEAD4, TSPAN9, KLK family). This study identified CpGs that remained differentially methylated after urogenital development and used the most relevant tissue sample available to study hypospadias. We identified multiple methylation sites and candidate genes that can be further evaluated for their roles in regulating urogenital development.
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