Evidence map›Paper›PMID 36631595›Full record

ArticleScientific reports2023

Role of epigenetics in the etiology of hypospadias through penile foreskin DNA methylation alterations.

Martin Kaefer, Richard Rink, Rosalia Misseri, Paul Winchester, Cathy Proctor, Millissia Ben Maamar, Daniel Beck, Eric Nilsson, Michael K Skinner

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
4.5field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Epigenetic Signatures in Hypospadias: Systematic Review.Journal of Indian Association of Pediatric Surgeons
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Martin KaeferDepartment of Pediatric Urology, Riley Hospital for Children, Indiana University School of Medicine, Indiana University, Indianapolis, IN, 46202-5201, USA.
Richard RinkDepartment of Pediatric Urology, Riley Hospital for Children, Indiana University School of Medicine, Indiana University, Indianapolis, IN, 46202-5201, USA.
Rosalia MisseriDepartment of Pediatric Urology, Riley Hospital for Children, Indiana University School of Medicine, Indiana University, Indianapolis, IN, 46202-5201, USA.
Paul WinchesterDepartment of Pediatrics, St. Franciscan Hospital, School of Medicine, Indiana University, Indianapolis, IN, 46202-5201, USA.
Cathy ProctorDepartment of Pediatrics, St. Franciscan Hospital, School of Medicine, Indiana University, Indianapolis, IN, 46202-5201, USA.
Millissia Ben MaamarCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Daniel BeckCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Eric NilssonCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA.
Michael K SkinnerCenter for Reproductive Biology, School of Biological Sciences, Washington State University, Pullman, WA, 99164-4236, USA. skinner@wsu.edu.
Washington State University · USFranciscan University of Steubenville · USIndiana University School of MedicineRiley Hospital for Children · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Abnormal penile foreskin development in hypospadias is the most frequent genital malformation in male children, which has increased dramatically in recent decades. A number of environmental factors have been shown to be associated with hypospadias development. The current study investigated the role of epigenetics in the etiology of hypospadias and compared mild (distal), moderate (mid shaft), and severe (proximal) hypospadias. Penile foreskin samples were collected from hypospadias and non-hypospadias individuals to identify alterations in DNA methylation associated with hypospadias. Dramatic numbers of differential DNA methylation regions (DMRs) were observed in the mild hypospadias, with reduced numbers in moderate and low numbers in severe hypospadias. Atresia (cell loss) of the principal foreskin fibroblast is suspected to be a component of the disease etiology. A genome-wide (> 95%) epigenetic analysis was used and the genomic features of the DMRs identified. The DMR associated genes identified a number of novel hypospadias associated genes and pathways, as well as genes and networks known to be involved in hypospadias etiology. Observations demonstrate altered DNA methylation sites in penile foreskin is a component of hypospadias etiology. In addition, a potential role of environmental epigenetics and epigenetic inheritance in hypospadias disease etiology is suggested.

Indexed as

ForeskinHypospadiasChildDNA MethylationEpigenesis, GeneticGenomicsHumansMale

Identifiers

PMID36631595
PMCPMC9834259
OpenAlexW4315647792

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.