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Environmental Epigenetics

Section information

Section Editor: Steven Gray

Associate Editor: Andres Cardenas, Boris Novakovic

The epigenome plays critical roles in determining phenotype and extracellular events within an individual’s environment (pollutants, stress) have been shown to significantly affect the epigenome with wide-ranging implications for health and disease.

This section publishes high-quality and innovative research generated from basic science, animal and translational clinical studies that focus on how environmental exposures can affect epigenetic regulation in the induction or control of disease. Research on the application of epigenetic analyses to the prediction, diagnosis, and effects of environmental exposure to pollutants on all aspects of human health are particularly welcomed. These may include reports on the interface between environmental exposures and epigenetic changes important to long-term human health and disease. Laboratory studies that report on potentially new environmental impacts on the epigenome (for example nanoparticles) will also be considered.


  1. Tobacco smoking is a risk factor for multiple diseases, including cardiovascular disease and diabetes. Many smoking-associated signals have been detected in the blood methylome, but the extent to which these c...

    Authors: Pei-Chien Tsai, Craig A. Glastonbury, Melissa N. Eliot, Sailalitha Bollepalli, Idil Yet, Juan E. Castillo-Fernandez, Elena Carnero-Montoro, Thomas Hardiman, Tiphaine C. Martin, Alice Vickers, Massimo Mangino, Kirsten Ward, Kirsi H. Pietiläinen, Panos Deloukas, Tim D. Spector, Ana Viñuela…
    Citation: Clinical Epigenetics 2018 10:126
  2. A variety of abnormalities in vitamin D metabolism have been reported in patients with active tuberculosis. However, intervention trials have produced inconsistent results. We hypothesized that genetic and epi...

    Authors: Min Wang, Weimin Kong, Biyu He, Zhongqi Li, Huan Song, Peiyi Shi and Jianming Wang
    Citation: Clinical Epigenetics 2018 10:118
  3. Genome-wide association studies (GWASs) have shown that genetic variants are important determinants of free fatty acid levels. The mechanisms underlying the associations between genetic variants and free fatty...

    Authors: Zhen He, Rong Zhang, Feng Jiang, Hong Zhang, Aihua Zhao, Bo Xu, Li Jin, Tao Wang, Wei Jia, Weiping Jia and Cheng Hu
    Citation: Clinical Epigenetics 2018 10:113
  4. Lung cancer is the leading cause of cancer-related death. While cigarette smoking is the primary cause of this malignancy, risk differs across racial/ethnic groups. For the same number of cigarettes smoked, Na...

    Authors: Sungshim L. Park, Yesha M. Patel, Lenora W. M. Loo, Daniel J. Mullen, Ite A. Offringa, Alika Maunakea, Daniel O. Stram, Kimberly Siegmund, Sharon E. Murphy, Maarit Tiirikainen and Loïc Le Marchand
    Citation: Clinical Epigenetics 2018 10:110
  5. Epigenetic modifications, including DNA methylation, act as one potential mechanism underlying the detrimental effects associated with prenatal tobacco smoke (PTS) exposure. Methylation in a gene called AXL was p...

    Authors: Lu Gao, Xiaochen Liu, Joshua Millstein, Kimberly D. Siegmund, Louis Dubeau, Rachel L. Maguire, Junfeng (Jim) Zhang, Bernard F. Fuemmeler, Scott H. Kollins, Cathrine Hoyo, Susan K. Murphy and Carrie V. Breton
    Citation: Clinical Epigenetics 2018 10:98
  6. Preterm birth is a leading cause of perinatal mortality and long-term health consequences. Epigenetic mechanisms may have been at play in preterm birth survivors, and these could be persistent and detrimental ...

    Authors: Qihua Tan, Shuxia Li, Morten Frost, Marianne Nygaard, Mette Soerensen, Martin Larsen, Kaare Christensen and Lene Christiansen
    Citation: Clinical Epigenetics 2018 10:87
  7. Vitamin D deficiency and insufficiency have been established to be strongly associated with increased overall mortality and deaths from specific aging-related diseases. Recently, an epigenetic “mortality risk ...

    Authors: Xu Gao, Yan Zhang, Ben Schöttker and Hermann Brenner
    Citation: Clinical Epigenetics 2018 10:84
  8. To investigate the relationship between early-life stress and glucocorticoid receptor (GR) gene methylation, which may result in long-lasting neurodevelopmental impairment, we performed a longitudinal analysis...

    Authors: Masato Kantake, Natsuki Ohkawa, Tomohiro Iwasaki, Naho Ikeda, Atsuko Awaji, Nobutomo Saito, Hiromichi Shoji and Toshiaki Shimizu
    Citation: Clinical Epigenetics 2018 10:66
  9. Exposure to endocrine-disrupting chemicals can alter normal physiology and increase susceptibility to non-communicable diseases like obesity. Especially the prenatal and early postnatal period is highly vulner...

    Authors: Kristin M. Junge, Beate Leppert, Susanne Jahreis, Dirk K. Wissenbach, Ralph Feltens, Konrad Grützmann, Loreen Thürmann, Tobias Bauer, Naveed Ishaque, Matthias Schick, Melanie Bewerunge-Hudler, Stefan Röder, Mario Bauer, Angela Schulz, Michael Borte, Kathrin Landgraf…
    Citation: Clinical Epigenetics 2018 10:58
  10. Genetic variants within the fatty acid desaturase (FADS) gene cluster (human Chr11) are important regulators of long-chain (LC) polyunsaturated fatty acid (PUFA) biosynthesis in the liver and consequently have be...

    Authors: Elaheh Rahbar, Charlotte Mae K. Waits, Edward H. Kirby Jr., Leslie R. Miller, Hannah C. Ainsworth, Tao Cui, Susan Sergeant, Timothy D. Howard, Carl D. Langefeld and Floyd H. Chilton
    Citation: Clinical Epigenetics 2018 10:46
  11. Smoking has been reported to be associated with peripheral blood DNA methylation, but the causal aspects of the association have rarely been investigated. We aimed to investigate the association and underlying...

    Authors: Shuai Li, Ee Ming Wong, Minh Bui, Tuong L. Nguyen, Ji-Hoon Eric Joo, Jennifer Stone, Gillian S. Dite, Graham G. Giles, Richard Saffery, Melissa C. Southey and John L. Hopper
    Citation: Clinical Epigenetics 2018 10:18
  12. Remodeling of the sperm epigenome by lifestyle factors before conception could account for altered metabolism in the next generation offspring. Here, we hypothesized that endurance training changes the epigeno...

    Authors: Lars R. Ingerslev, Ida Donkin, Odile Fabre, Soetkin Versteyhe, Mie Mechta, Pattarawan Pattamaprapanont, Brynjulf Mortensen, Nikolaj Thure Krarup and Romain Barrès
    Citation: Clinical Epigenetics 2018 10:12
  13. Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. A...

    Authors: Alexandre A. Lussier, Alexander M. Morin, Julia L. MacIsaac, Jenny Salmon, Joanne Weinberg, James N. Reynolds, Paul Pavlidis, Albert E. Chudley and Michael S. Kobor
    Citation: Clinical Epigenetics 2018 10:5
  14. DNA methylation of CpG sites on genetic loci has been linked to increased risk of asthma in children exposed to elevated ambient air pollutants (AAPs). Further identification of specific CpG sites and the poll...

    Authors: Mary Prunicki, Laurel Stell, Deendayal Dinakarpandian, Mariangels de Planell-Saguer, Richard W. Lucas, S. Katharine Hammond, John R. Balmes, Xiaoying Zhou, Tara Paglino, Chiara Sabatti, Rachel L. Miller and Kari C. Nadeau
    Citation: Clinical Epigenetics 2018 10:2
  15. Epigenome-wide association studies (EWAS) have identified DNA methylation loci involved in adiposity. However, EWAS on adiposity in sub-Saharan Africans are lacking despite the high burden of adiposity among A...

    Authors: Karlijn A.C. Meeks, Peter Henneman, Andrea Venema, Tom Burr, Cecilia Galbete, Ina Danquah, Matthias B. Schulze, Frank P. Mockenhaupt, Ellis Owusu-Dabo, Charles N. Rotimi, Juliet Addo, Liam Smeeth, Silver Bahendeka, Joachim Spranger, Marcel M.A.M. Mannens, Mohammad H. Zafarmand…
    Citation: Clinical Epigenetics 2017 9:103
  16. Methylation quantitative trait loci (mQTLs) are the genetic variants that may affect the DNA methylation patterns of CpG sites. However, their roles in influencing the disturbances of smoking-related epigeneti...

    Authors: Xu Gao, Hauke Thomsen, Yan Zhang, Lutz Philipp Breitling and Hermann Brenner
    Citation: Clinical Epigenetics 2017 9:87
  17. Changes in DNA methylation, one of the most studied epigenetic mechanisms, are considered an initial marker for early cancer detection. We evaluated how availability of dietary factors (folates and vitamin B12...

    Authors: Hugo Sanchez, Mohammad B. Hossain, Lydia Lera, Sandra Hirsch, Cecilia Albala, Ricardo Uauy, Karin Broberg and Ana M. Ronco
    Citation: Clinical Epigenetics 2017 9:74
  18. The BDNF gene codes for brain-derived neurotrophic factor, a growth factor involved in neural development, cell differentiation, and synaptic plasticity. Present in both the brain and periphery, BDNF plays critic...

    Authors: Darlene A. Kertes, Samarth S. Bhatt, Hayley S. Kamin, David A. Hughes, Nicole C. Rodney and Connie J. Mulligan
    Citation: Clinical Epigenetics 2017 9:68
  19. Asthma gene DNA methylation may underlie the effects of air pollution on airway inflammation. However, the temporality and individual susceptibility to environmental epigenetic regulation of asthma has not bee...

    Authors: Kyung Hwa Jung, Stephanie Lovinsky-Desir, Beizhan Yan, David Torrone, Jennifer Lawrence, Jacqueline R. Jezioro, Matthew Perzanowski, Frederica P. Perera, Steven N. Chillrud and Rachel L. Miller
    Citation: Clinical Epigenetics 2017 9:61
  20. Omega-3 polyunsaturated fatty acids (n-3 FAs) have several beneficial effects on cardiovascular (CV) disease risk factors. These effects on CV risk profile may be mediated by several factors, including epigene...

    Authors: Bénédicte L. Tremblay, Frédéric Guénard, Iwona Rudkowska, Simone Lemieux, Patrick Couture and Marie-Claude Vohl
    Citation: Clinical Epigenetics 2017 9:43
  21. Subjects born with low birth weight (LBW) display a more energy-conserving response to fasting compared with normal birth weight (NBW) subjects. However, the molecular mechanisms explaining these metabolic dif...

    Authors: Line Hjort, Sine W. Jørgensen, Linn Gillberg, Elin Hall, Charlotte Brøns, Jan Frystyk, Allan A. Vaag and Charlotte Ling
    Citation: Clinical Epigenetics 2017 9:40
  22. Prenatal environmental conditions may influence disease risk in later life. We previously found a gene-environment interaction between the paraoxonase 1 (PON1) Q192R genotype and prenatal pesticide exposure leadi...

    Authors: Ken Declerck, Sylvie Remy, Christine Wohlfahrt-Veje, Katharina M. Main, Guy Van Camp, Greet Schoeters, Wim Vanden Berghe and Helle R. Andersen
    Citation: Clinical Epigenetics 2017 9:35
  23. Genetics explains a small proportion of variance in body mass index at the population level. Epigenetics, commonly measured by gene methylation, holds promise for understanding obesity risk factors and mechani...

    Authors: Jocelyn Dunstan, Joseph P. Bressler, Timothy H. Moran, Jonathan S. Pollak, Annemarie G. Hirsch, Lisa Bailey-Davis, Thomas A. Glass and Brian S. Schwartz
    Citation: Clinical Epigenetics 2017 9:29
  24. Intrauterine exposure to gestational diabetes mellitus (GDM) confers a lifelong increased risk for metabolic and other complex disorders to the offspring. GDM-induced epigenetic modifications modulating gene r...

    Authors: Larissa Haertle, Nady El Hajj, Marcus Dittrich, Tobias Müller, Indrajit Nanda, Harald Lehnen and Thomas Haaf
    Citation: Clinical Epigenetics 2017 9:28
  25. Maternal nutrition during pregnancy and infant nutrition in the early postnatal period (lactation) are critically involved in the development and health of the newborn infant. The Maternal Nutrition and Offspr...

    Authors: Sara Pauwels, Manosij Ghosh, Radu Corneliu Duca, Bram Bekaert, Kathleen Freson, Inge Huybrechts, Sabine A. S. Langie, Gudrun Koppen, Roland Devlieger and Lode Godderis
    Citation: Clinical Epigenetics 2017 9:16
  26. Population based epigenetic association studies of disease and exposures are becoming more common with the availability of economical genome-wide technologies for interrogation of the methylome, such as the Il...

    Authors: Rachel D. Edgar, Meaghan J. Jones, Wendy P. Robinson and Michael S. Kobor
    Citation: Clinical Epigenetics 2017 9:11
  27. Maternal cigarette smoking during pregnancy increases the risk of negative health consequences for the exposed child. Epigenetic mechanisms constitute a likely link between the prenatal exposure to maternal ci...

    Authors: Svetlana Fa, Trine Vilsbøll Larsen, Katrine Bilde, Tina F. Daugaard, Emil H. Ernst, Rasmus H. Olesen, Linn S. Mamsen, Erik Ernst, Agnete Larsen and Anders L. Nielsen
    Citation: Clinical Epigenetics 2016 8:128
  28. Evidence is accumulating that nutritional exposures in utero can influence health outcomes in later life. Animal studies and human epidemiological studies have implicated epigenetic modifications as playing a ...

    Authors: Susan J. van Dijk, Jing Zhou, Timothy J. Peters, Michael Buckley, Brodie Sutcliffe, Yalchin Oytam, Robert A. Gibson, Andrew McPhee, Lisa N. Yelland, Maria Makrides, Peter L. Molloy and Beverly S. Muhlhausler
    Citation: Clinical Epigenetics 2016 8:114
  29. Exposure to cigarette smoking can increase the risk of cancers and cardiovascular and pulmonary diseases. However, the underlying mechanisms of how smoking contributes to disease risks are not completely under...

    Authors: Mi Kyeong Lee, Yoonki Hong, Sun-Young Kim, Stephanie J. London and Woo Jin Kim
    Citation: Clinical Epigenetics 2016 8:103
  30. DNA methylation of the Th1 and Th2 cytokine genes is altered during cow’s milk allergy (CMA). Forkhead box transcription factor 3 (FoxP3) is essential for the development and function of regulatory T cells (Tregs...

    Authors: Lorella Paparo, Rita Nocerino, Linda Cosenza, Rosita Aitoro, Valeria D’Argenio, Valentina Del Monaco, Carmen Di Scala, Antonio Amoroso, Margherita Di Costanzo, Francesco Salvatore and Roberto Berni Canani
    Citation: Clinical Epigenetics 2016 8:86
  31. Tobacco smoke is worldwide one of the main preventable lifestyle inhalative pollutants causing severe adverse health effects. Epidemiological studies revealed association of tobacco smoking with epigenetic cha...

    Authors: Mario Bauer, Beate Fink, Loreen Thürmann, Markus Eszlinger, Gunda Herberth and Irina Lehmann
    Citation: Clinical Epigenetics 2016 8:83
  32. Prenatal maternal stress (PNMS) is an important programming factor of postnatal immunity. We tested here the hypothesis that DNA methylation of genes in the NF-κB signaling pathway in T cells mediates the effe...

    Authors: Lei Cao-Lei, Franz Veru, Guillaume Elgbeili, Moshe Szyf, David P. Laplante and Suzanne King
    Citation: Clinical Epigenetics 2016 8:54
  33. Epigenetic reprogramming in mammalian gametes resets methylation marks that regulate monoallelic expression of imprinted genes. In males, this involves erasure of the maternal methylation marks and establishme...

    Authors: Adelheid Soubry, Lisa Guo, Zhiqing Huang, Cathrine Hoyo, Stephanie Romanus, Thomas Price and Susan K. Murphy
    Citation: Clinical Epigenetics 2016 8:51
  34. Maternal obesity impacts fetal growth and pregnancy outcomes. To counteract the deleterious effects of obesity on fertility and pregnancy issue, preconceptional weight loss is recommended to obese women. Wheth...

    Authors: Polina E. Panchenko, Sarah Voisin, Mélanie Jouin, Luc Jouneau, Audrey Prézelin, Simon Lecoutre, Christophe Breton, Hélène Jammes, Claudine Junien and Anne Gabory
    Citation: Clinical Epigenetics 2016 8:22
  35. Tobacco smoking is a major cause of chronic disease worldwide. Smoking may induce cellular and molecular changes including epigenetic modification, with both short-term and long-term modification patterns that...

    Authors: Daniella Klebaner, Yunfeng Huang, Qin Hui, Jacquelyn Y. Taylor, Jack Goldberg, Viola Vaccarino and Yan V. Sun
    Citation: Clinical Epigenetics 2016 8:20
  36. The prevalence of type 2 diabetes (T2D) and obesity has dramatically increased within a few generations, reaching epidemic levels. In addition to genetic risk factors, epigenetic mechanisms triggered by changi...

    Authors: Wadha A. Al Muftah, Mashael Al-Shafai, Shaza B. Zaghlool, Alessia Visconti, Pei-Chien Tsai, Pankaj Kumar, Tim Spector, Jordana Bell, Mario Falchi and Karsten Suhre
    Citation: Clinical Epigenetics 2016 8:13
  37. Inadequate maternal nutrition during early fetal development can create permanent alterations in the offspring, leading to poor health outcomes. While nutrients involved in one-carbon cycle metabolism are impo...

    Authors: Lauren E. McCullough, Erline E. Miller, Michelle A. Mendez, Amy P. Murtha, Susan K. Murphy and Cathrine Hoyo
    Citation: Clinical Epigenetics 2016 8:8
  38. Folate and its synthetic form folic acid function as donor of one-carbon units and have been, together with other B-vitamins, implicated in programming of epigenetic processes such as DNA methylation during ea...

    Authors: Dieuwertje E. G. Kok, Rosalie A. M. Dhonukshe-Rutten, Carolien Lute, Sandra G. Heil, André G. Uitterlinden, Nathalie van der Velde, Joyce B. J. van Meurs, Natasja M. van Schoor, Guido J. E. J. Hooiveld, Lisette C. P. G. M. de Groot, Ellen Kampman and Wilma T. Steegenga
    Citation: Clinical Epigenetics 2015 7:121