Evidence map›Paper›PMID 40429342›Full record

ReviewJournal of clinical medicine2025

The Role of Gene Alterations in the Pathogenesis of Polycystic Ovary Syndrome.

Enrico Carmina

Abstract readReview
In one paragraph

Review in Journal of clinical medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. 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

1 author.

Enrico CarminaEndocrinology Unit, School of Medicine, University of Palermo, 90139 Palermo, Italy.ORCID 0000-0001-7336-7610

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Family studies have shown that polycystic ovary syndrome (PCOS) has probable genetic transmission because of a high incidence of relatives who present clinical or biochemical characters of the syndrome. However, initial candidate gene studies were unsuccessful. Genome wide association studies (GWASs) have shown that at least 29 gene alterations are common in PCOS, but it has been calculated that the altered genes found by GWASs may represent only 10% of affected patients. Rare altered uncoding genes may explain the syndrome in an additional group of patients. In many other patients, the altered genes found by GWASs may represent a risk condition for the development of the syndrome, and new candidate gene studies have shown that some gene alterations that mainly concern androgen production may be common in PCOS. Finally, in most patients, epigenetic and environmental factors may be necessary to transform a risk condition into this common and important syndrome.

Indexed as

AMHDENND1A geneenvironmental factorsepigenetic factorsgene candidate studiesGWASobesitypolycystic ovary syndrome (PCOS)

Identifiers

PMID40429342
PMCPMC12112259

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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.