Evidence map›Paper›PMID 34677673›Full record

ArticleActa diabetologica2022

Frequency and spectrum of glucokinase mutations in an adult Maltese population.

Nikolai Paul Pace, Celine Ann Grech, Barbara Vella, Ruth Caruana, Josanne Vassallo

Abstract read
PubMed Publisher
In one paragraph

Article in Acta diabetologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

5 authors at 1 institution in 1 country.

Nikolai Paul PaceCentre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Nikolai Paul Pace, Room 325, Msida, 2080, MSD, Malta. nikolai.p.pace@um.edu.mt.ORCID https://orcid.org/0000-0002-7332-874X
Celine Ann GrechCentre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Nikolai Paul Pace, Room 325, Msida, 2080, MSD, Malta.
Barbara VellaCentre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Nikolai Paul Pace, Room 325, Msida, 2080, MSD, Malta.
Ruth CaruanaDepartment of Medicine, Faculty of Medicine and Surgery, University of Malta, Msida, MSD2080, Malta.
Josanne VassalloDepartment of Medicine, Faculty of Medicine and Surgery, University of Malta, Msida, MSD2080, Malta.ORCID http://orcid.org/0000-0002-1480-7986
University of Malta · MT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo investigate the frequency and spectrum of glucokinase (GCK) mutations in a cohort of adults from an island population having a high prevalence of diabetes mellitus (DM).

methodsA single-centre cohort study was conducted, including 145 non-obese adults of Maltese-Caucasian ethnicity with impaired fasting glycaemia (IFG) or non-autoimmune diabetes diagnosed before the age of 40 years. Bidirectional sequencing of the GCK coding regions was performed. Genotype-phenotype associations and familial segregation were explored and the effects of missense variants on protein structure were evaluated using computational analysis.

resultsThree probands with pathogenic/likely pathogenic GCK variants in the heterozygous state having clinical features consistent with GCK-diabetes were detected. The missense variants have structurally destabilising effects on protein structure. GCK variant carriers exhibited a significantly lower body mass index and serum triglyceride levels when compared to GCK variant non-carriers.

conclusionsThe frequency of GCK-diabetes is approximately 2% in non-obese Maltese adults with diabetes or prediabetes. This study broadens the mutational spectrum of GCK and highlights clinical features that could be useful in discriminating GCK-DM from type 2 DM or prediabetes. It reinforces the need for increased molecular testing in young adults with diabetes having a suspected monogenic aetiology.

Indexed as

Diabetes Mellitus, Type 2GlucokinaseAdultCohort StudiesGerminal Center KinasesHumansMutationPhenotypeGerminal Center KinasesGlucokinaseMAP4K2 protein, humanGlucokinaseHyperglycaemiaMonogenic diabetesPrediabetes

Identifiers

PMID34677673
OpenAlexW3206029384

What OpenQuestion 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 OpenQuestion graph.