Epigenetic and Transcriptional Alterations in Human Adipose Tissue of Polycystic Ovary Syndrome
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Genetic and epigenetic factors may predispose women to polycystic ovary syndrome (PCOS), a common heritable disorder of unclear etiology. Here we investigated differences in genome-wide gene expression and DNA methylation in adipose tissue from 64 women with PCOS and 30 controls. In total, 1720 unique genes were differentially expressed (Q < 0.05). Six out of twenty selected genes with largest expression difference (CYP1B1, GPT), genes linked to PCOS (RAB5B) or type 2 diabetes (PPARG, SVEP1), and methylation (DMAP1) were replicated in a separate case-control study. In total, 63,213 sites (P < 0.05) and 440 sites (Q < 0.15) were differently methylated. Thirty differentially expressed genes had corresponding changes in 33 different DNA methylation sites. Moreover, a total number of 1913 pairs of differentially expressed "gene-CpG" probes were significantly correlated after correction for multiple testing and corresponded with 349 unique genes. In conclusion, we identified a large number of genes and pathways that are affected in adipose tissue from women with PCOS. We also identified specific DNA methylation pathways that may affect mRNA expression. Together, these novel findings show that women with PCOS have multiple transcriptional and epigenetic changes in adipose tissue that are relevant for development of the disease.
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Epigenetic variants have been reported for adipose tissue and muscle.
“Epigenetic variants have been reported for adipose tissue and muscle [120, 121].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [120]
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Le syndrome des ovaires polykystiques : quelles nouveautés en 2019 ?
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Puttabyatappa, M., Ciarelli, J. N., Chatoff, A. G., & Padmanabhan, V. (2021) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2021.111207 · Cited by 4 · see citing works
- Authors
- Kokosar, M., Benrick, A., Perfilyev, A., Fornes, R., Nilsson, E., Maliqueo, M., Behre, C. J., Sazonova, A., Ohlsson, C., Ling, C., & Stener-Victorin, E.
- Affiliations
- University of Gothenburg (SE)
- Lund University (SE)
- Karolinska Institutet (SE)
- ORCID
- Venue
- Scientific Reports
- Published
- 2016-03-15
- Volume
- 6
- Issue
- 1
- Pages
- 22883-22883
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC4791632
- OpenAlex
- W2346799376
- Cited by
- 137
- References
- 86
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 10 · 2023: 21 · 2022: 18 · 2021: 15 · 2020: 15 · 2019: 15 · 2018: 12 · 2017: 10 · 2016: 5
- FWCI
- 18.61
- Type
- journal article
- Language
- en
- Update notices
- erratum (2016-05-09)
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Universidad de Chile (submittedVersion, cc-by-nc-nd)
- Funders
- Australian Government
- Stiftelsen Handlanden Hjalmar Svenssons
- Novo Nordisk
- Göteborgs Universitet
- Novo Nordisk Fonden (NNF14OC0010513, NNF15OC0015902, NNF13OC0005785)
- Medical Research Council
- Sahlgrenska Akademin
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- polycystic ovary syndrome, adipose tissue, DNA methylation, gene expression, epigenetics, transcriptome, CYP1B1, PPARγ, SVEP1, Rab5b, type 2 diabetes
- MeSH terms
- Adipose Tissue, Adult, Binding Sites, Female, Humans, Polycystic Ovary Syndrome, Transcription, Genetic, Immunoblotting, Cohort Studies, Case-Control Studies, DNA Methylation, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Epigenesis, Genetic, Genome-Wide Association Study, Young Adult
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