Evidence map›Paper›PMID 40819284›Full record

ReviewEuropean journal of endocrinology2025

Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.

Thomas W Laver, Kashyap A Patel

Abstract readReview
In one paragraph

Review in European journal of endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Article
  6. 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

2 authors.

Thomas W LaverDepartment of Clinical and Biomedical Science, University of Exeter, Exeter EX2 5DW, United Kingdom.
Kashyap A PatelDepartment of Clinical and Biomedical Science, University of Exeter, Exeter EX2 5DW, United Kingdom.ORCID 0000-0002-9240-8104

Funding

Academy of Medical SciencesBritish Heart FoundationDiabetes UK Springboard Award SBF009\1135EFSDGovernment Department of Science Innovation and TechnologyNational Institute for Health and Care Research Exeter Biomedical Research CentreWellcome TrustWellcome Trust 219606/Z/19/Z
6 · The paper itself

Abstract

Maturity onset diabetes of the young (MODY) is the most common form of monogenic diabetes. A genetic diagnosis can help tailor treatment. However, it is vital to test the right genes. This review discusses the need to test the correct genes and widen the genes that are included on panels while also discussing examples of genes that should be removed from panels due to insufficient evidence. This is important to ensure the maximum number of patients receive a genetic diagnosis while avoiding misdiagnosis and mistreatment. To maximize the cost-benefit of genetic testing, we need to select the right patients for genetic testing-this review discusses criteria that increase the chance of a patient having a monogenic cause of their diabetes. Reduced penetrance, where some individuals have the pathogenic genotype but do not exhibit the phenotype, is now known to be increasingly common in MODY and other monogenic disorders. This has important implications when a variant is identified in an unaffected individual. This review highlights recent work that polygenic risk may play a role in determining penetrance.

Indexed as

Diabetes Mellitus, Type 2Genetic Predisposition to DiseaseGenetic TestingHumansPenetrancematurity onset diabetes of the youngmonogenic diabetespenetrancepolygenic risk

Identifiers

PMID40819284
PMCPMC12404303

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.