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Epigenetic Biomarkers

Edited by

Dawn L. DeMeo, MD, MPH, Brigham and Women's Hospital/ Harvard Medical School, USA
James M Flanagan, PhD, Imperial College London, UK
Harold Snieder, PhD, University Medical Center Groningen, The Netherlands
Bea Wisman, PhD, University Medical Center Groningen, The Netherlands
Tomasz K Wojdacz, PhD, Pomeranian Medical University, Poland
New Content Item

Epigenetic biomarkers have significantly contributed to improved understanding of the origins and progression of disease. Moreover, increasing evidence shows that epigenetic biomarkers have potential for personalized medicine. However, routine use of epigenetic biomarkers in in-vitro diagnostics (IVD) is lagging behind the discoveries of new biomarkers. In this thematic series of Clinical Epigenetics, we discuss current progress in development of epigenetic biomarkers for clinical use in common complex diseases of ageing and welcome both original research and reviews.

The sections of the collection include:

1. Types of epigenetic biomarkers and readiness for IVD use

  1. DNA methylation as biomarker
  2. Histone modification as biomarker
  3. Upcoming field of circulating free nucleosomes as biomarker


2. Progress towards clinical use of biomarker

  1. Biomarkers of environmental exposures and causality of the biomarker
  2. Disease predisposition biomarkers
  3. Biomarkers used for disease detection
  4. Clinical disease prevention and management: predictive and prognostic
  5. Monitoring of chronic disease


3. Single versus multiple biomarkers and risk scores
4. Major stages of clinical validation of the biomarker
5. Biomarker detection technologies suitable for IVD use and significance of bioinformatics
6. Ethics and regulatory aspects of IVD epigenetic biomarkers

This collection of articles has not been sponsored and articles have undergone the journal’s standard peer-review process. Please find out more about our journal and its policies, here. This collection is closed for submissions.

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  1. Sleep is important for healthy functioning in children. Numerous genetic and environmental factors, from conception onwards, may influence this phenotype. Epigenetic mechanisms such as DNA methylation have bee...

    Authors: Sara Sammallahti, M. Elisabeth Koopman-Verhoeff, Anne-Claire Binter, Rosa H. Mulder, Alba Cabré-Riera, Tuomas Kvist, Anni L. K. Malmberg, Giancarlo Pesce, Sabine Plancoulaine, Jonathan A. Heiss, Sheryl L. Rifas-Shiman, Stefan W. Röder, Anne P. Starling, Rory Wilson, Kathrin Guerlich, Kristine L. Haftorn…
    Citation: Clinical Epigenetics 2022 14:83
    Content type: Research Published on:

  2. Epigenetic abnormalities in DNA hydroxymethylation (5hmC) have been detected in patients with myeloid neoplasms, suggesting that 5hmC might act as a valuable epigenetic mark to reflect the disease status of my...

    Authors: Jia Li, Tingting Hong, Yue Wei, Lei Guo, Minjung Lee, Hui Yang, Caleb Class, Yaling Yang, Xiaoqiong Wang, Hua He, Stefan Siwko, M. James You, Yubin Zhou, Guillermo Garcia-Manero and Yun Huang
    Citation: Clinical Epigenetics 2022 14:81
    Content type: Research Published on:

  3. Ovarian cancer (OC) is a highly lethal gynecologic cancer, and it is hard to diagnose at an early stage. Clinically, there are no ovarian cancer-specific markers for early detection. Here, we demonstrate the u...

    Authors: Huaiwu Lu, Yunyun Liu, Jingyu Wang, Shaliu Fu, Lingping Wang, Chunxian Huang, Jing Li, Lingling Xie, Dongyan Wang, Dan Li, Hui Zhou and Qunxian Rao
    Citation: Clinical Epigenetics 2022 14:74
    Content type: Research Published on:

  4. DNA methylation biomarkers for early detection, risk stratification and treatment response in cancer have been of great interest over the past decades. Nevertheless, clinical implementation of these biomarkers...

    Authors: Maartje Massen, Kim Lommen, Kim A. D. Wouters, Johan Vandersmissen, Wim van Criekinge, James G. Herman, Veerle Melotte, Leo J. Schouten, Manon van Engeland and Kim M. Smits
    Citation: Clinical Epigenetics 2022 14:56
    Content type: Methodology Published on:

  7. Multiple studies have reported the prognostic impact of DNA methylation changes in acute myeloid leukemia (AML). However, these epigenetic markers have not been thoroughly validated and therefore are still not...

    Authors: Šárka Šestáková, Ela Cerovská, Cyril Šálek, Dávid Kundrát, Ivana Ježíšková, Adam Folta, Jiří Mayer, Zdeněk Ráčil, Petr Cetkovský and Hana Remešová
    Citation: Clinical Epigenetics 2022 14:22
    Content type: Research Published on:

  8. Although kidney transplantation improves patient survival and quality of life, long-term results are hampered by both immune- and non-immune-mediated complications. Current biomarkers of post-transplant compli...

    Authors: Iacopo Cristoferi, Tommaso Antonio Giacon, Karin Boer, Myrthe van Baardwijk, Flavia Neri, Manuela Campisi, Hendrikus J. A. N. Kimenai, Marian C. Clahsen - van Groningen, Sofia Pavanello, Lucrezia Furian and Robert C. Minnee
    Citation: Clinical Epigenetics 2022 14:20
    Content type: Review Published on:

  9. Epigenetic clocks are biomarkers of ageing derived from DNA methylation levels at a subset of CpG sites. The difference between age predicted by these clocks and chronological age, termed “epigenetic age accel...

    Authors: Rhona A. Beynon, Suzanne M. Ingle, Ryan Langdon, Margaret May, Andy Ness, Richard M. Martin, Matthew Suderman, Kate Ingarfield, Riccardo E. Marioni, Daniel L. McCartney, Tim Waterboer, Michael Pawlita, Caroline Relton, George Davey Smith and Rebecca C. Richmond
    Citation: Clinical Epigenetics 2022 14:1
    Content type: Research Published on:

  10. Circulating tumor DNA (ctDNA) is a promising diagnostic and prognostic marker for many cancers and has been actively investigated in recent years. Previous studies have already demonstrated the potential use o...

    Authors: Wu-Hao Lin, Jian Xiao, Zi-Yi Ye, Da-Liang Wei, Xiao-Hui Zhai, Rui-Hua Xu, Zhao-Lei Zeng and Hui-Yan Luo
    Citation: Clinical Epigenetics 2021 13:232
    Content type: Research Published on:

  11. Metformin and weight loss relationships with epigenetic age measures—biological aging biomarkers—remain understudied. We performed a post-hoc analysis of a randomized controlled trial among overweight/obese br...

    Authors: Jamaji C. Nwanaji-Enwerem, Felicia Fei-Lei Chung, Lars Van der Laan, Alexei Novoloaca, Cyrille Cuenin, Harriet Johansson, Bernardo Bonanni, Alan E. Hubbard, Martyn T. Smith, Sheri J. Hartman, Andres Cardenas, Dorothy D. Sears and Zdenko Herceg
    Citation: Clinical Epigenetics 2021 13:224
    Content type: Short report Published on:

  12. Early lung cancer detection remains a clinical challenge for standard diagnostic biopsies due to insufficient tumor morphological evidence. As epigenetic alterations precede morphological changes, expression a...

    Authors: Jian Zhou, Tong Cheng, Xing Li, Jie Hu, Encheng Li, Ming Ding, Rulong Shen, John P. Pineda, Chun Li, Shaohua Lu, Hongyu Yu, Jiayuan Sun, Wenbin Huang, Xiaonan Wang, Han Si, Panying Shi…
    Citation: Clinical Epigenetics 2021 13:220
    Content type: Research Published on:

  13. The dilation of the aorta that occurs as a consequence of a congenitally bicuspid aortic valve (BAV) is associated with a risk of dissection, aneurysm or rupture. With progressive aortopathy, surgery is often ...

    Authors: Ashna Maredia, David Guzzardi, Mohammad Aleinati, Fatima Iqbal, Arshroop Khaira, Aiswarya Madhu, Xuemei Wang, Alex J. Barker, Patrick M. McCarthy, Paul W. M. Fedak and Steven C. Greenway
    Citation: Clinical Epigenetics 2021 13:147
    Content type: Research Published on:

  14. Increasing evidence linking epigenetic mechanisms and different diseases, including cancer, has prompted in the last 15 years the investigation of histone post-translational modifications (PTMs) in clinical sa...

    Authors: Roberta Noberini, Evelyn Oliva Savoia, Stefania Brandini, Francesco Greco, Francesca Marra, Giovanni Bertalot, Giancarlo Pruneri, Liam A. McDonnell and Tiziana Bonaldi
    Citation: Clinical Epigenetics 2021 13:145
    Content type: Methodology Published on:

  15. Current risk models for renal cell carcinoma (RCC) based on clinicopathological factors are sub-optimal in accurately identifying high-risk patients. Here, we perform a head-to-head comparison of previously pu...

    Authors: S. C. Joosten, S. N. O. Odeh, A. Koch, N. Buekers, M. J. B. Aarts, M. M. L. L. Baldewijns, L. Van Neste, S. van Kuijk, L. J. Schouten, P. A. van den Brandt, V. C. Tjan-Heijnen, M. van Engeland and K. M. Smits
    Citation: Clinical Epigenetics 2021 13:103
    Content type: Research Published on: