Evidence mapPaperPMID 40540212Full record

ArticleActa diabetologica2025

Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics.

Eulalia Catamo, Andrea Conti, Roberto Franceschi, Klemen Dovc, Camilla Morosini, Davide Tinti, Luana Aldegheri, Stefania Cappellani, Gianluca Tamaro, Angela Zanfardino and 7 more

Abstract read
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Article in Acta diabetologica, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

17 authors.

Eulalia Catamo *Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.
Andrea Conti *Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.
Roberto FranceschiDivision of Pediatrics, S. Chiara General Hospital, APSS, Trento, Italy.
Klemen DovcFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Camilla MorosiniDiabetes Research Institute, Department of Pediatrics, IRCCS San Raffaele Hospital, Milan, Italy.
Davide TintiCenter for Pediatric Diabetology, A.O.U. Città Della Salute e Della Scienza, Turin, Italy.
Luana AldegheriInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.
Stefania CappellaniInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.
Gianluca TamaroInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.
Angela ZanfardinoDepartment of Woman, Child and of General and Specialized Surgery, Università Degli Studi Della Campania "Luigi Vanvitelli", Naples, Italy.
Elena FaleschiniInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.
Ivana RabboneDivision of Pediatrics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Riccardo BonfantiDiabetes Research Institute, Department of Pediatrics, IRCCS San Raffaele Hospital, Milan, Italy.
Tadej BattelinoFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Dario IafuscoDepartment of Woman, Child and of General and Specialized Surgery, Università Degli Studi Della Campania "Luigi Vanvitelli", Naples, Italy.
Gianluca TorneseInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy. gianluca.tornese@burlo.trieste.it.ORCID http://orcid.org/0000-0002-4395-3915
Antonietta RobinoInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Via Dell'Istria 65, Trieste, Italy.

Funding

Javna Agencija za Raziskovalno Dejavnost RS J3-4521Javna Agencija za Raziskovalno Dejavnost RS J3-4528Javna Agencija za Raziskovalno Dejavnost RS P3-0343Ministero della Salute GR-2019-12369573Ministero della Salute R.C. 26/22
6 · The paper itself

Abstract

aimsThis study evaluates the contribution of common variants in Maturity-Onset Diabetes of the Young (MODY) genes on type 1 diabetes (T1D), using a polygenic score (PGS) approach.

methods485 children and youth diagnosed with T1D from at least 1 year and 271 healthy controls (HC) were recruited. Personal information (i.e. age, sex, height, weight) were collected for each participant, and clinical information (i.e. age at diagnosis, disease duration, presence of autoantibodies and ketoacidosis at onset (DKA)) were also obtained for T1D subjects. Participants were genotyped using Illumina Infinium Global Screening Array. PGS based on Single Nucleotide Polymorphisms (SNPs) in 16 MODY genes were developed. The association of this PGS with T1D susceptibility and clinical disease characteristics was assessed by regression analysis.

resultsA PGS including 335 SNPs in MODY genes discriminates T1D from HC (AUC = 60.1%, AIC = 787.6). This PGS was significantly higher in T1D compared to HC (p-value = 0.0004, pseudo-R2 = 2.85%). Moreover, regression analysis between PGS and T1D clinical characteristics showed higher PGS values in T1D subjects with zinc transporter 8 autoantibodies (ZnT8A) compared with T1D subjects without ZnT8A (p-value = 0.04). A similar trend was also observed for antibodies directed against glutamic acid decarboxylase (GADA), although the association did not reach statistical significance (p-value = 0.06).

conclusionsOur study suggests that a polygenic approach based on MODY genes may discriminate T1D from HC and may contribute to patient stratification, helping to better understand T1D heterogeneity.

Indexed as

Diabetes Mellitus, Type 1Diabetes Mellitus, Type 2Multifactorial InheritanceAdolescentAutoantibodiesCase-Control StudiesChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenotypeHumansMalePolymorphism, Single NucleotideZinc Transporter 8AutoantibodiesZinc Transporter 8AutoantibodyMODYPolygenic scoreType 1 diabetes

Identifiers

PMID40540212
PMCPMC12640318

What Socratic holds

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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 Socratic graph.