University of Oulu

Laajala, E., Kalim, U.U., Grönroos, T. et al. Umbilical cord blood DNA methylation in children who later develop type 1 diabetes. Diabetologia 65, 1534–1540 (2022).

Umbilical cord blood DNA methylation in children who later develop type 1 diabetes

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Author: Laajala, Essi1,2,3,4; Kalim, Ubaid Ullah1,2; Grönroos, Toni1,2;
Organizations: 1Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku, Finland
2InFLAMES Research Flagship Center, University of Turku, Turku, Finland
3Turku Doctoral Programme of Molecular Medicine, University of Turku, Turku, Finland
4Department of Computer Science, Aalto University, Espoo, Finland
5Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland
6Centre for Population Health Research, University of Turku and Turku University Hospital, Turku, Finland
7Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland
8Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
9Department of Virology, Faculty of Medicine and Biosciences, University of Tampere, Tampere, Finland
10Institute of Biomedicine, University of Turku, Turku, Finland
11Immunogenetics Laboratory, Institute of Biomedicine, University of Turku, Turku, Finland
12Pediatric Research Center, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
13Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland
14Center for Child Health Research, Tampere University Hospital, Tampere, Finland
15School of Medical Sciences, Örebro University, Örebro, Sweden
16Department of Pediatrics, PEDEGO Research Unit, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland
17Department of Pediatrics, Turku University Hospital, Turku, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.5 MB)
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Language: English
Published: Springer Nature, 2022
Publish Date: 2022-12-20


Aims/hypothesis: Distinct DNA methylation patterns have recently been observed to precede type 1 diabetes in whole blood collected from young children. Our aim was to determine whether perinatal DNA methylation is associated with later progression to type 1 diabetes.

Methods: Reduced representation bisulphite sequencing (RRBS) analysis was performed on umbilical cord blood samples collected within the Finnish Type 1 Diabetes Prediction and Prevention (DIPP) Study. Children later diagnosed with type 1 diabetes and/or who tested positive for multiple islet autoantibodies (n = 43) were compared with control individuals (n = 79) who remained autoantibody-negative throughout the DIPP follow-up until 15 years of age. Potential confounding factors related to the pregnancy and the mother were included in the analysis.

Results: No differences in the umbilical cord blood methylation patterns were observed between the cases and controls at a false discovery rate <0.05.

Conclusions/interpretation: Based on our results, differences between children who progress to type 1 diabetes and those who remain healthy throughout childhood are not yet present in the perinatal DNA methylome. However, we cannot exclude the possibility that such differences would be found in a larger dataset.

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Series: Diabetologia
ISSN: 0012-186X
ISSN-E: 1432-0428
ISSN-L: 0012-186X
Volume: 65
Issue: 9
Pages: 1534 - 1540
DOI: 10.1007/s00125-022-05726-1
Type of Publication: A1 Journal article – refereed
Field of Science: 3121 General medicine, internal medicine and other clinical medicine
3123 Gynaecology and paediatrics
Funding: Open Access funding provided by University of Turku (UTU) including Turku University Central Hospital. This study was supported by the InFLAMES Flagship Programme of the Academy of Finland (decision number: 337530). RV received funding for the DIPP Study from the JDRF (grants 1-SRA-2016-342-M-R and 1-SRA-2019-732-M-B), the Academy of Finland (grant 308067) and the Finnish Diabetes Foundation. The DIPP Study was also supported by Special Research Funds for University Hospitals in Finland. RL received funding from the Academy of Finland (grants 292335, 294337, 319280, 31444, 319280, 329277 and 331790) and Business Finland, and grants from the JDRF, the Sigrid Jusélius Foundation, the Jane and Aatos Erkko Foundation, Novo Nordisk Foundation, the Finnish Diabetes Foundation and the Finnish Cancer Foundation. RL, HL, MKn, MO and JT were supported by the Academy of Finland Centre of Excellence in Molecular Systems Immunology and Physiology Research (2012-2017) (grants 250114 and 292482). JT was funded by the European Foundation for the Study of Diabetes, the Pediatric Research Foundation and Turku University Hospital Special Governmental Grants. LLE received grants from the European Research Council (677943), the European Union's Horizon 2020 research and innovation programme (675395), the Academy of Finland (296801, 310561, 314443, 329278, 335434 and 335611) and the Sigrid Jusélius Foundation. Our research is also supported by the University of Turku Graduate School, Biocenter Finland and ELIXIR Finland. TG was supported by the Academy of Finland (decision number: 340231). EL was supported by the Turku Doctoral Programme of Molecular Medicine, the Finnish Cultural Foundation, and the Kyllikki and Uolevi Lehikoinen Foundation.
Academy of Finland Grant Number: 308067
Detailed Information: 308067 (Academy of Finland Funding decision)
Dataset Reference: The datasets generated and analysed during the current study are available in the ArrayExpress repository, accession code E-MTAB-10530 (
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