University of Oulu

Nuotio, ML., Pervjakova, N., Joensuu, A. et al. An epigenome-wide association study of metabolic syndrome and its components. Sci Rep 10, 20567 (2020).

An epigenome-wide association study of metabolic syndrome and its components

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Author: Nuotio, Marja-Liisa1,2,3; Natalia Pervjakova, Natalia Pervjakova4; Joensuu, Anni2,3;
Organizations: 1Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
2Genomics and Biobank Unit, Department of Public Health Solutions, National Institute for Health and Welfare, Biomedicum 1, Haartmaninkatu 8, 00290, Helsinki, Finland
3Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland
4Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia
5Center for Life Course Health Research, University of Oulu, Oulu, Finland
6Oulu University Hospital, Oulu, Finland
7Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK
8Biocenter Oulu, University of Oulu, Oulu, Finland
9Computational Medicine, Faculty of Medicine, University of Oulu, Oulu, Finland
10Population Health Science, Bristol Medical School, University of Bristol and Medical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK
11Unit of Primary Health Care, Oulu University Hospital, Oulu, Finland
12Finnish Institute for Health and Welfare, Helsinki, Finland
13Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.3 MB)
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Language: English
Published: Springer Nature, 2020
Publish Date: 2021-02-15


The role of metabolic syndrome (MetS) as a preceding metabolic state for type 2 diabetes and cardiovascular disease is widely recognised. To accumulate knowledge of the pathological mechanisms behind the condition at the methylation level, we conducted an epigenome-wide association study (EWAS) of MetS and its components, testing 1187 individuals of European ancestry for approximately 470 000 methylation sites throughout the genome. Methylation site cg19693031 in gene TXNIP —previously associated with type 2 diabetes, glucose and lipid metabolism, associated with fasting glucose level (P = 1.80 × 10⁻⁸). Cg06500161 in gene ABCG1 associated both with serum triglycerides (P = 5.36 × 10⁻⁹) and waist circumference (P = 5.21 × 10⁻⁹). The previously identified type 2 diabetes–associated locus cg08309687 in chromosome 21 associated with waist circumference for the first time (P = 2.24 × 10⁻⁷). Furthermore, a novel HDL association with cg17901584 in chromosome 1 was identified (P = 7.81 × 10⁻⁸). Our study supports previous genetic studies of MetS, finding that lipid metabolism plays a key role in pathology of the syndrome. We provide evidence regarding a close interplay with glucose metabolism. Finally, we suggest that in attempts to identify methylation loci linking separate MetS components, cg19693031 appears to represent a strong candidate.

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Series: Scientific reports
ISSN: 2045-2322
ISSN-E: 2045-2322
ISSN-L: 2045-2322
Volume: 10
Issue: 1
Article number: 20567
DOI: 10.1038/s41598-020-77506-z
Type of Publication: A1 Journal article – refereed
Field of Science: 1182 Biochemistry, cell and molecular biology
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