According to the “Developmental Origins of Health and Disease” (DOHaD) concept, the early-life environment is a critical period for fetal programming. Given the epidemiological evidence that air pollution expo...
Authors: N. D. Saenen, D. S. Martens, K. Y. Neven, R. Alfano, H. Bové, B. G. Janssen, H. A. Roels, M. Plusquin, K. Vrijens and T. S. Nawrot
Hirschsprung disease is a neurocristopathy, characterized by aganglionosis in the distal bowel. It is caused by failure of the enteric nervous system progenitors to migrate, proliferate, and differentiate in t...
Authors: Emilie G. Jaroy, Lourdes Acosta-Jimenez, Ryo Hotta, Allan M. Goldstein, Ragnhild Emblem, Arne Klungland and Rune Ougland
Persistence of latent, replication-competent provirus in CD4+ T cells of human immunodeficiency virus (HIV)-infected individuals on antiretroviral treatment (ART) is the main obstacle for virus eradication. Methy...
Authors: César N. Cortés-Rubio, Gonzalo Salgado-Montes de Oca, Francisco J. Prado-Galbarro, Margarita Matías-Florentino, Akio Murakami-Ogasawara, Leticia Kuri-Cervantes, Ana P. Carranco-Arenas, Christopher E. Ormsby, Ivette K. Cortés-Rubio, Gustavo Reyes-Terán and Santiago Ávila-Ríos
Studies demonstrate the impact of diet and physical activity on epigenetic biomarkers, specifically DNA methylation. However, no intervention studies have examined the combined impact of dietary and activity c...
Authors: Elizabeth Hibler, Lei Huang, Jorge Andrade and Bonnie Spring
Chronic pancreatitis presents a high risk of inflammation-related progression to pancreatic cancer. Pancreatic cancer is the fourth leading cause of cancer-related death worldwide. The high mortality rate is d...
Authors: Francesco Natale, Maria Vivo, Geppino Falco and Tiziana Angrisano
Air pollution exposure is estimated to contribute to approximately seven million early deaths every year worldwide and more than 3% of disability-adjusted life years lost. Air pollution has numerous harmful ef...
Alzheimer’s disease results from a neurodegenerative process that starts well before the diagnosis can be made. New prognostic or diagnostic markers enabling early intervention into the disease process would b...
Authors: Mikko Konki, Maia Malonzo, Ida K. Karlsson, Noora Lindgren, Bishwa Ghimire, Johannes Smolander, Noora M. Scheinin, Miina Ollikainen, Asta Laiho, Laura L. Elo, Tapio Lönnberg, Matias Röyttä, Nancy L. Pedersen, Jaakko Kaprio, Harri Lähdesmäki, Juha O. Rinne…
Exposure to airborne particulate matter (PM) has been associated with detrimental health effects. DNA methylation represents the most well-studied epigenetic factor among the possible mechanisms underlying thi...
Breastfeeding is protective against many long-term diseases, yet the mechanisms involved are unknown. Leptin gene (LEP) is reported to be associated with body mass index (BMI). On the other hand, breastfeeding du...
Authors: William B. Sherwood, Victoria Bion, Gabrielle A. Lockett, Ali H. Ziyab, Nelís Soto-Ramírez, Nandini Mukherjee, Ramesh J. Kurukulaaratchy, Susan Ewart, Hongmei Zhang, S. Hasan Arshad, Wilfried Karmaus, John W. Holloway and Faisal I. Rezwan
The most common sex chromosomal aneuploidy in males is Klinefelter syndrome, which is characterized by at least one supernumerary X chromosome. While these men have long been considered infertile, focal sperma...
Authors: Sandra Laurentino, Laura Heckmann, Sara Di Persio, Xiaolin Li, Gerd Meyer zu Hörste, Joachim Wistuba, Jann-Frederik Cremers, Jörg Gromoll, Sabine Kliesch, Stefan Schlatt and Nina Neuhaus
The construct of multisomatoform disorder (MSD) is a common point of reference for patients in different somatic and psychosomatic specialties and therefore useful in studying large well-characterized cohorts ...
Authors: Johannes Achenbach, Mathias Rhein, Sara Gombert, Fiona Meyer-Bockenkamp, Miro Buhck, Mirjam Eberhardt, Andreas Leffler, Helge Frieling and Matthias Karst
Umbilical cord blood (UCB) is commonly used in epigenome-wide association studies of prenatal exposures. Accounting for cell type composition is critical in such studies as it reduces confounding due to the ce...
Authors: Kristina Gervin, Lucas A. Salas, Kelly M. Bakulski, Menno C. van Zelm, Devin C. Koestler, John K. Wiencke, Liesbeth Duijts, Henriëtte A. Moll, Karl T. Kelsey, Michael S. Kobor, Robert Lyle, Brock C. Christensen, Janine F. Felix and Meaghan J. Jones
Elastic net type regression methods have become very popular for prediction of certain outcomes in epigenome-wide association studies (EWAS). The methods considered accept biased coefficient estimates in retur...
Although epigenetic mechanisms are important risk factors for allergic disease, few studies have evaluated DNA methylation differences associated with atopic dermatitis (AD), and none has focused on AD with ec...
Authors: Meher Preethi Boorgula, Margaret A. Taub, Nicholas Rafaels, Michelle Daya, Monica Campbell, Sameer Chavan, Aniket Shetty, Chris Cheadle, Sangjucta Barkataki, Jinshui Fan, Gloria David, Terri H. Beaty, Ingo Ruczinski, Jon Hanifin, Lynda C. Schneider, Richard L. Gallo…
Epigenetic regulation is important in hematopoiesis, but the involvement of histone variants is poorly understood. Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic stem cell (HSC) disorde...
Authors: Oxana Bereshchenko, Oriana Lo Re, Fedor Nikulenkov, Sara Flamini, Jana Kotaskova, Tommaso Mazza, Marguerite-Marie Le Pannérer, Marcus Buschbeck, Cesarina Giallongo, Giuseppe Palumbo, Giovanni Li Volti, Valerio Pazienza, Libor Cervinek, Carlo Riccardi, Lumir Krejci, Sarka Pospisilova…
Cervical cancer screening by combined cytology and HPV test has reduced the incidence of cervical cancer, but cytological screening lacks a higher sensitivity while HPV testing possesses a lower specificity. M...
Authors: Xinlin Jiao, Siying Zhang, Jun Jiao, Teng Zhang, Wenjie Qu, Guy Mutangala Muloye, Beihua Kong, Qing Zhang and Baoxia Cui
African Americans (AAs) experience premature chronic health outcomes and longevity disparities consistent with an accelerated aging phenotype. DNA methylation (DNAm) levels at specific CpG positions are hallma...
Authors: Salman M. Tajuddin, Dena G. Hernandez, Brian H. Chen, Nicole Noren Hooten, Nicolle A. Mode, Mike A. Nalls, Andrew B. Singleton, Ngozi Ejiogu, Kumaraswamy Naidu Chitrala, Alan B. Zonderman and Michele K. Evans
Temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS) is a common pharmaco-resistant epilepsy referred for adult epilepsy surgery. Though associated with prolonged febrile seizures (FS) in childhood, th...
Authors: Laurence de Nijs, Kyonghwan Choe, Hellen Steinbusch, Olaf E. M. G. Schijns, Jim Dings, Daniel L. A. van den Hove, Bart P. F. Rutten and Govert Hoogland
Histological grading of choroid plexus tumors (CPTs) remains the best prognostic tool to distinguish between aggressive choroid plexus carcinoma (CPC) and the more benign choroid plexus papilloma (CPP) or atyp...
Authors: Malgorzata Pienkowska, Sanaa Choufani, Andrei L. Turinsky, Tanya Guha, Diana M. Merino, Ana Novokmet, Michael Brudno, Rosanna Weksberg, Adam Shlien, Cynthia Hawkins, Eric Bouffet, Uri Tabori, Richard Gilbertson, Jonathan L. Finlay, Nada Jabado, Christian Thomas…
Oral squamous cell carcinoma (OSCC) is a genetic and epigenetic disease. There is growing evidence to suggest that environmental factors due to epigenetic changes can be involved in the OSCC pathogenesis. Alth...
Authors: Soo Yeon Kim, Yu Kyeong Han, Jae Min Song, Chang Hun Lee, Keunsoo Kang, Joo Mi Yi and Hae Ryoun Park
Significant numbers of prostate cancer (PCa) patients experience tumour upstaging and upgrading in surgical specimens that cause serious problems in timely and proper selection of the treatment strategy. This ...
Authors: Arnas Bakavicius, Kristina Daniunaite, Kristina Zukauskaite, Marija Barisiene, Sonata Jarmalaite and Feliksas Jankevicius
Characteristic DNA methylation differences have been identified between primary and metastatic melanomas at EBF3 and/or TBC1D16 gene loci. To further evaluate whether these epigenetic changes may act more general...
Authors: Euan J. Rodger, Aniruddha Chatterjee, Peter A. Stockwell and Michael R. Eccles
H19 and IGF2 genes are imprinted and involved in regulating fetal and placental growth. The H19 differentially methylated region (DMR) is paternally methylated and maternally unmethylated and regulates the imprin...
SET (Suppressor of variegation, Enhancer of Zeste, Trithorax) and MYND (Myeloid-Nervy-DEAF1) domain-containing protein 2 (SMYD2) is a protein methyltransferase that methylates histone H3 at lysine 4 (H3K4) or ...
DNA demethylation therapy is now used in practice for hematological tumors and is being developed for solid tumors. Nevertheless, it is difficult to achieve stable pharmacokinetics with the current DNA-demethy...
Authors: Naoko Hattori, Magoichi Sako, Kana Kimura, Naoko Iida, Hideyuki Takeshima, Yoshitaka Nakata, Yutaka Kono and Toshikazu Ushijima
To compare DNA methylation in subjects positive vs negative for anti-citrullinated protein antibodies (ACPA), a key serological marker of rheumatoid arthritis (RA) risk.
Authors: Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia M. T. Greenwood, Marvin J. Fritzler, Philip Awadalla, Tomi Pastinen and Sasha Bernatsky
Results of previous studies on the association of the CpG island methylator phenotype (CIMP) with colorectal cancer (CRC) prognosis were inconsistent and mostly based on different CIMP definitions. The current...
Authors: Min Jia, Yan Zhang, Lina Jansen, Viola Walter, Dominic Edelmann, Melanie Gündert, Katrin E. Tagscherer, Wilfried Roth, Melanie Bewerunge-Hudler, Esther Herpel, Matthias Kloor, Alexis Ulrich, Barbara Burwinkel, Hendrik Bläker, Jenny Chang-Claude, Hermann Brenner…
Parkinson’s disease (PD) is characterized by the loss of midbrain dopaminergic neurons (DAn). Previously, we described the presence of DNA hyper- and hypo-methylation alterations in induced pluripotent stem ce...
Authors: Rubén Fernández-Santiago, Angelika Merkel, Giancarlo Castellano, Simon Heath, Ángel Raya, Eduard Tolosa, María-José Martí, Antonella Consiglio and Mario Ezquerra
Idiopathic scoliosis (IS) is a complex disease with an unclear etiology, and the worldwide prevalence is approximately 2–3%. As an important link between environmental factors and phenotypic differences, epige...
Guadecitabine is a novel DNA methyltransferase (DNMT) inhibitor with improved pharmacokinetics and clinical activity in a subset of patients with relapsed/refractory acute myeloid leukemia (r/r AML), but ident...
Authors: Woonbok Chung, Andrew D. Kelly, Patricia Kropf, Henry Fung, Jaroslav Jelinek, Xiang Yao Su, Gail J. Roboz, Hagop M. Kantarjian, Mohammad Azab and Jean-Pierre J. Issa
The oral mucosa has an important role in maintaining barrier integrity at the gateway to the gastrointestinal and respiratory tracts. Smoking is a strong environmental risk factor for the common oral inflammat...
Authors: Gesa M. Richter, Jochen Kruppa, Matthias Munz, Ricarda Wiehe, Robert Häsler, Andre Franke, Orlando Martins, Yvonne Jockel-Schneider, Corinna Bruckmann, Henrik Dommisch and Arne S. Schaefer
Non-alcoholic fatty liver disease (NAFLD) is estimated to affect 24% of the global adult population. NAFLD is a major risk factor for the development of cirrhosis and hepatocellular carcinoma, as well as being...
Authors: Matthew C. Sinton, David C. Hay and Amanda J. Drake
Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (> 200 ASD-risk genes), no single gene variant accounts...
Authors: M. T. Siu, D. T. Butcher, A. L. Turinsky, C. Cytrynbaum, D. J. Stavropoulos, S. Walker, O. Caluseriu, M. Carter, Y. Lou, R. Nicolson, S. Georgiades, P. Szatmari, E. Anagnostou, S. W. Scherer, S. Choufani, M. Brudno…
Apabetalone (RVX-208) is a bromodomain and extraterminal protein inhibitor (BETi) that in phase II trials reduced the relative risk (RR) of major adverse cardiac events (MACE) in patients with cardiovascular d...
Authors: Laura M. Tsujikawa, Li Fu, Shovon Das, Christopher Halliday, Brooke D. Rakai, Stephanie C. Stotz, Christopher D. Sarsons, Dean Gilham, Emily Daze, Sylwia Wasiak, Deborah Studer, Kristina D. Rinker, Michael Sweeney, Jan O. Johansson, Norman C. W. Wong and Ewelina Kulikowski
Peptides originating from different sources (endogenous, food derived, environmental, and synthetic) are able to influence different aspects of epigenetic regulation. Endogenous short peptides, resulting from ...
Authors: Yorick Janssens, Evelien Wynendaele, Wim Vanden Berghe and Bart De Spiegeleer
Clustered protocadherins (PCDHs) map in tandem at human chromosome 5q31 and comprise three multi-genes clusters: α-, β- and γ-PCDH. The expression of this cluster consists of a complex mechanism involving DNA hub...
Authors: Ana Florencia Vega-Benedetti, Eleonora Loi, Loredana Moi, Sylvain Blois, Antonio Fadda, Manila Antonelli, Antonella Arcella, Manuela Badiali, Felice Giangaspero, Isabella Morra, Amedeo Columbano, Angelo Restivo, Luigi Zorcolo, Viviana Gismondi, Liliana Varesco, Sara Erika Bellomo…
Prostate cancer (PC) is a commonly diagnosed malignancy in males, especially in the western hemisphere. The extensive use of multiple biomarkers plays an important role in the diagnosis and prognosis of PC. Ho...
Authors: Xin Li, Wanfeng Zhang, Jing Song, Xianqin Zhang, Longke Ran and Yunfeng He
Colorectal cancer (CRC) is the fourth leading cause of cancer-related deaths worldwide, and deciphering underlying molecular mechanism is essential. The loss of monoubiquitinated histone H2B (H2Bub1) was corre...
Authors: Deborah Schneider, Robert Lorenz Chua, Nicole Molitor, Feda H. Hamdan, Eva Maria Rettenmeier, Evangelos Prokakis, Vivek Kumar Mishra, Vijayalakshmi Kari, Florian Wegwitz, Steven A. Johnsen and Robyn Laura Kosinsky
Maternal smoking during pregnancy is associated with adverse offspring health outcomes across their life course. We hypothesize that DNA methylation is a potential mediator of this relationship.
Authors: Petri Wiklund, Ville Karhunen, Rebecca C. Richmond, Priyanka Parmar, Alina Rodriguez, Maneka De Silva, Matthias Wielscher, Faisal I. Rezwan, Tom G. Richardson, Juha Veijola, Karl-Heinz Herzig, John W. Holloway, Caroline L. Relton, Sylvain Sebert and Marjo-Riitta Järvelin
Methylation of the hypoxia-inducible factor 3α gene (HIF3A) has been linked to pregnancy exposures, infant adiposity and later BMI. Genetic variation influences HIF3A methylation levels and may modify these relat...
Authors: Toby Mansell, Anne-Louise Ponsonby, Vania Januar, Boris Novakovic, Fiona Collier, David Burgner, Peter Vuillermin, Joanne Ryan and Richard Saffery
Compared to healthy individuals, those with stably repressed HIV experience a higher risk of developing insulin resistance, a hallmark of pre-diabetes and a major determinant for cardiometabolic diseases. Alth...
Authors: Christian K. Dye, Michael J. Corley, Dongmei Li, Vedbar S. Khadka, Brooks I. Mitchell, Razvan Sultana, Annette Lum-Jones, Cecilia M. Shikuma, Lishomwa C. Ndhlovu and Alika K. Maunakea
Genomic imprinting, mediated by parent-of-origin-specific epigenetic silencing, adjusts the gene expression dosage in mammals. We aimed to clarify parental allelic expression in the human placenta for 396 clai...
Authors: Diana Pilvar, Mario Reiman, Arno Pilvar and Maris Laan
Comprehensive analysis of the tissue of origin of plasma cell-free DNA (cfDNA) remains insufficient. A genome-scale DNA methylation method for this analysis is of both biological and clinical interest.
Authors: Xiaomeng Liu, Jie Ren, Nan Luo, Huahu Guo, Yuxuan Zheng, Jingyi Li, Fuchou Tang, Lu Wen and Jirun Peng
ARID1A (AT-rich interactive domain-containing protein 1A) is a subunit of the BAF chromatin remodeling complex and plays roles in transcriptional regulation and DNA damage response. Mutations in ARID1A that lead ...
Authors: Madhobi Sen, Xin Wang, Feda H. Hamdan, Jacobe Rapp, Jessica Eggert, Robyn Laura Kosinsky, Florian Wegwitz, Ana Patricia Kutschat, Fereshteh S. Younesi, Jochen Gaedcke, Marian Grade, Elisabeth Hessmann, Argyris Papantonis, Philipp Strӧbel and Steven A. Johnsen
Drawing the epigenome landscape of Alzheimer’s disease (AD) still remains a challenge. To characterize the epigenetic molecular basis of the human hippocampus in AD, we profiled genome-wide DNA methylation lev...
Authors: Miren Altuna, Amaya Urdánoz-Casado, Javier Sánchez-Ruiz de Gordoa, María V. Zelaya, Alberto Labarga, Julie M. J. Lepesant, Miren Roldán, Idoia Blanco-Luquin, Álvaro Perdones, Rosa Larumbe, Ivonne Jericó, Carmen Echavarri, Iván Méndez-López, Luisa Di Stefano and Maite Mendioroz
Sessile serrated adenomas (SSAs) are common polyps which give rise to 20–30% of colorectal cancer (CRC). SSAs display clinicopathologic features which present challenges in surveillance, including overrepresen...
Authors: Cheng Liu, Lochlan J. Fennell, Mark L. Bettington, Neal I. Walker, Joel Dwine, Barbara A. Leggett and Vicki L. J. Whitehall
Cardiac disease modelling using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM) requires thorough insight into cardiac cell type differentiation processes. However, current methods to dis...
Authors: Kirstin Hoff, Marta Lemme, Anne-Karin Kahlert, Kerstin Runde, Enrique Audain, Dorit Schuster, Jens Scheewe, Tim Attmann, Thomas Pickardt, Almuth Caliebe, Reiner Siebert, Hans-Heiner Kramer, Hendrik Milting, Arne Hansen, Ole Ammerpohl and Marc-Phillip Hitz
To evaluate the association of early-life exposure to the Chinese Great Famine (1959–1961) with DNA methylation in IGF2 and its subsequent influence on blood lipid levels in late adulthood among participants of t...
Authors: Luqi Shen, Changwei Li, Zhenghe Wang, Ruiyuan Zhang, Ye Shen, Toni Miles, Jingkai Wei and Zhiyong Zou
Numerous studies have demonstrated that DNA methylation levels in the aryl hydrocarbon receptor repressor (AHRR) gene measured in cord blood are significantly associated with prenatal tobacco smoke exposure and c...
Authors: Matthew A. Bergens, Gary S. Pittman, Isabel J. B. Thompson, Michelle R. Campbell, Xuting Wang, Cathrine Hoyo and Douglas A. Bell
Due to limited access to brain tissue, the precise mechanisms underlying neuro-axonal dysfunction in neurological disorders such as multiple sclerosis (MS) are largely unknown. In that context, profiling DNA m...
Authors: Lara Kular, Maria Needhamsen, Milena Z. Adzemovic, Tatiana Kramarova, David Gomez-Cabrero, Ewoud Ewing, Eliane Piket, Jesper Tegnér, Stephan Beck, Fredrik Piehl, Lou Brundin and Maja Jagodic
