Evidence map›Paper›PMID 31291970›Full record

ArticleBMC medicine2019

Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis.

Xavier Donath, Cécile Saint-Martin, Danièle Dubois-Laforgue, Ramanan Rajasingham, François Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné-Chantelot, Monogenic Diabetes Study Group of the Société Francophone du Diabète

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 2 pooled it
6.8field-weighted citation impact, top 3% 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

37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.

  1. Pooled it
  2. Clinical and Genetic Characteristics ofJournal of diabetes research · 2021
    Pooled it
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  19. Monogenic diabetes.Nature reviews. Disease primers · 2023
    Review
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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 3 institutions in 1 country.

Xavier DonathDepartment of Diabetology, Cochin Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), and Paris Descartes University, DHU AUTHORS, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France.
Cécile Saint-MartinDepartment of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 47/83 boulevard de l'Hôpital, 75013, Paris, France.
Danièle Dubois-LaforgueDepartment of Diabetology, Cochin Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), and Paris Descartes University, DHU AUTHORS, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France.
Ramanan RajasinghamDepartment of Diagnostic and Interventional Radiology, and Neuroradiology, Bretonneau Hospital, University Hospital of Tours, 2 boulevard Tonnellé, 27000, Tours, France.
François MifsudDepartment of Diabetology, Cochin Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), and Paris Descartes University, DHU AUTHORS, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France.
Cécile CianguraPRISIS Reference Center for Rare Diseases, Paris, France.
José TimsitDepartment of Diabetology, Cochin Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), and Paris Descartes University, DHU AUTHORS, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France.
Christine Bellanné-ChantelotDepartment of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 47/83 boulevard de l'Hôpital, 75013, Paris, France. christine.bellanne-chantelot@aphp.fr.ORCID 0000-0001-8415-6771
Monogenic Diabetes Study Group of the Société Francophone du Diabète
Délégation Paris 5 · FRAgence France-Presse · FRSorbonne Université · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMonogenic diabetes (MgD) accounts for 1-2% of all diabetes cases. In adults, MgD is difficult to distinguish from common diabetes causes. We assessed the diagnosis rate and genetic spectrum of MgD using next-generation sequencing in patients with late adolescence/adult-onset diabetes referred for a clinical suspicion of MgD.

methodsThis cross-sectional study was performed in 1564 probands recruited in 116 Endocrinology departments. Inclusion criteria were the absence of diabetes autoantibodies, and at least two of the three following criteria: an age ≤ 40 years and a body mass index (BMI) < 30 kg/m

resultsPathogenic variants were identified in 254 patients (16.2%) and in 23.2% of EuroCaucasian patients. Using more stringent selection criteria (family history of diabetes in ≥ 3 generations, age at diabetes ≤ 40 years and BMI < 30 kg/m

conclusionVariants of HNF1B and the K-ATP channel genes were more frequently involved in MgD than previously reported. Phenotype overlapping makes the diagnosis of MgD difficult in adolescents/adults and underlies the benefit of NGS in clinically selected patients.

Indexed as

AdolescentAdultCross-Sectional StudiesDiabetes Mellitus, Type 2FemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleYoung AdultMODYMolecular diagnosticsMonogenic diabetesNext-generation sequencingPathogenic variantsVariant of uncertain significance

Identifiers

PMID31291970
PMCPMC6621990
OpenAlexW2961699719

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.