Evidence mapPaperPMID 36894549Full record

ReviewNature reviews. Disease primers2023

Monogenic diabetes.

Amélie Bonnefond, Ranjit Unnikrishnan, Alessandro Doria, Martine Vaxillaire, Rohit N Kulkarni, Viswanathan Mohan, Vincenzo Trischitta, Philippe Froguel

Open access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Disease primers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.

0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed
44.5field-weighted citation impact, top 1% 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

83 citing papers in PubMed, 134 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Genes · 2026
    Article
  6. Review
  7. Higher diabetes genetic load in proliferative diabetic retinopathy in South India: The South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Article
  8. Review
  9. Article
  10. Article
  11. Type 2 diabetes mellitus.Nature reviews. Disease primers · 2026
    Review
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Case Report: Identification of aFrontiers in endocrinology · 2026
    Article
  18. Article
  19. Article
  20. Case Report: A novel likely pathogenicFrontiers in endocrinology · 2026
    Article

23 more citing papers are in PubMed but not listed here.

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

8 authors at 4 institutions in 5 countries.

Amélie BonnefondInserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, Lille University Hospital, Lille, France. amelie.bonnefond@cnrs.fr.ORCID 0000-0001-9976-3005
Ranjit UnnikrishnanDepartment of Diabetology, Madras Diabetes Research Foundation, Indian Council of Medical Research Centre for Advanced Research on Diabetes and Dr Mohan's Diabetes Specialities Centre, Chennai, India.ORCID 0000-0002-8587-8861
Alessandro DoriaResearch Division, Joslin Diabetes Center, Boston, MA, USA.
Martine VaxillaireInserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, Lille University Hospital, Lille, France.
Rohit N KulkarniResearch Division, Joslin Diabetes Center, Boston, MA, USA.ORCID 0000-0001-5029-6119
Viswanathan MohanDepartment of Diabetology, Madras Diabetes Research Foundation, Indian Council of Medical Research Centre for Advanced Research on Diabetes and Dr Mohan's Diabetes Specialities Centre, Chennai, India.ORCID 0000-0001-5038-6210
Vincenzo TrischittaResearch Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Philippe FroguelInserm UMR1283, CNRS UMR8199, European Genomic Institute for Diabetes (EGID), Institut Pasteur de Lille, Lille University Hospital, Lille, France. philippe.froguel@cnrs.fr.ORCID 0000-0003-2972-0784
Centre National de la Recherche Scientifique · FRIndian Council of Medical Research · INJoslin Diabetes Center · USCasa Sollievo della Sofferenza · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Monogenic diabetes includes several clinical conditions generally characterized by early-onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) and various diabetes-associated syndromes. However, patients with apparent type 2 diabetes mellitus may actually have monogenic diabetes. Indeed, the same monogenic diabetes gene can contribute to different forms of diabetes with early or late onset, depending on the functional impact of the variant, and the same pathogenic variant can produce variable diabetes phenotypes, even in the same family. Monogenic diabetes is mostly caused by impaired function or development of pancreatic islets, with defective insulin secretion in the absence of obesity. The most prevalent form of monogenic diabetes is MODY, which may account for 0.5-5% of patients diagnosed with non-autoimmune diabetes but is probably underdiagnosed owing to insufficient genetic testing. Most patients with neonatal diabetes or MODY have autosomal dominant diabetes. More than 40 subtypes of monogenic diabetes have been identified to date, the most prevalent being deficiencies of GCK and HNF1A. Precision medicine approaches (including specific treatments for hyperglycaemia, monitoring associated extra-pancreatic phenotypes and/or following up clinical trajectories, especially during pregnancy) are available for some forms of monogenic diabetes (including GCK- and HNF1A-diabetes) and increase patients' quality of life. Next-generation sequencing has made genetic diagnosis affordable, enabling effective genomic medicine in monogenic diabetes.

Indexed as

Diabetes Mellitus, Type 2FemaleGenetic TestingHumansMutationPregnancyQuality of Life

Identifiers

PMID36894549
OpenAlexW4323663903

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.