ArticlePediatric surgery international2018
Single-nucleotide and copy-number variance related to severity of hypospadias.
Article in Pediatric surgery international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- Genetic Susceptibility and Pathogenesis of Hypospadias.Biochemical genetics · 2026Review
- Genetic Susceptibility and Pathogenesis of Hypospadias.Biochemical genetics · 2026Review
- Novel evidence of CNV deletion inFrontiers in pediatrics · 2024Article
- Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.International journal of molecular sciences · 2022Article
- Quantitative proteomics reveals specific protein regulation of severe hypospadias.Translational andrology and urology · 2022Article
- New frontiers on the molecular underpinnings of hypospadias according to severity.Arab journal of urology · 2020Review
- A Proteomics Signature of Mild Hypospadias: A Pilot Study.Frontiers in pediatrics · 2020Article
- Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.Molecular cytogenetics · 2020Article
- Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.Research and reports in urology · 2020Review
- Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
- Gene-Dosage Effect of V89L Variants in Steroid 5α-Reductase Type 2 and Increased Risk of 46, XY Disorders of Sex Development: A Systematic Review and Meta-Analysis.Journal of Indian Association of Pediatric SurgeonsReview
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe genetic association of hypospadias-risk studies has been conducted in Caucasians, Chinese-Han populations and few in Indian populations. However, no comprehensive approach has been followed to assess genetic involvement in the severity of the disorder.
methodsThe study evaluated to establish the correlation between genotyped single nucleotide and copy number variants (SNPs/CNVs) and severity of hypospadias by an association in a total 30 SNPs in genes related to sex hormone-biosynthesis and metabolism; embryonic-development and phospholipase-D-signalling pathways on 138 surgery-confirmed hypospadias-cases from North India (84 penile and 28 cases of penoscrotal-hypospadias as compared with 31 cases of glanular + coronal), and analyzed and identified CNVs in four familial cases (18 members) and three paired-sporadic cases (6 members) using array-based comparative-genomic-hybridization and validated in 32 hypospadias samples by TaqMan assay.
resultsBased on odds ratio at 95% CI, Z Statistic and Significance Levels, STS gene-rs17268974 was associated with Penile-Hypospadias and 9-SNPs [seven-SNPs (rs5934740; rs5934842; rs5934913; rs6639811; rs3923341; rs17268974; rs5934937)] of STS gene; rs7562326-SRD5A2 and rs1877031-STARD3 were associated with penoscrotal-hypospadias. On aggregate analysis with p < 0.001, we identified homozygous-loss of Ch7:q34 (PRSS3P2, PRSS2). On validation in previously CNV-characterized and new (32 hypospadias cases), we identified PRSS3P2-loss in most of the grade 3 and 4 hypospadias. Hence, Grade 1 and 2 (coronal and granular) show no-PRSS3P2-loss and no-association with SNPs in STS; SRD5A2; STARD3-gene but Grade 3 and 4 (Penile and Penoscrotal) show PRSS3P2-loss accompanied with the association of SNPs in STS; SRD5A2; STARD3.
conclusionsHence, homozygous-loss of PRSS3P2 accompanied with the association of STS; SRD5A2; STARD3 may link to the severity of the disease.
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