| Title: | Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics |
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| Authors: | ID Catamo, Eulalia (Author)
ID Conti, Andrea (Author)
ID Franceschi, Roberto (Author)
ID Dovč, Klemen (Author)
ID Morosini, Camilla (Author)
ID Tinti, Davide (Author)
ID Battelino, Tadej (Author), et al. |
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| Files: |  PDF - Presentation file, download (820,51 KB)
MD5: 302D706E2B3F6334F135084121DA15A2
 URL - Source URL, visit https://link.springer.com/article/10.1007/s00592-025-02544-w
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Aims: This 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. Methods: 485 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. Results: A 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). Conclusions: Our 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. |
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| Keywords: | type 1 diabetes, MODY, polygenic score, autoantibody |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2025 |
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| Number of pages: | str. 2021-2029 |
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| Numbering: | Vol. 62 |
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| PID: | 20.500.12556/DiRROS-24610  |
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| UDC: | 616.379 |
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| ISSN on article: | 1432-5233 |
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| DOI: | 10.1007/s00592-025-02544-w |
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| COBISS.SI-ID: | 250987523 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 30. 9. 2025;
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| Publication date in DiRROS: | 09.12.2025 |
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| Views: | 70 |
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| Downloads: | 30 |
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