Epigenome-wide association studies using DNA methylation have the potential to uncover novel biomarkers and mechanisms of cardiovascular disease (CVD) risk. However, the direction of causation for these associ...
Authors: Kenneth Westerman, Paola Sebastiani, Paul Jacques, Simin Liu, Dawn DeMeo and José M. Ordovás
The epigenetic machinery is frequently altered in acute myeloid leukemia. Focusing on cytogenetically normal (CN) AML, we previously described an abnormal H3K27me3 enrichment covering 70 kb on the HIST1 cluster (...
Authors: Sylvain Garciaz, Lia N’guyen Dasi, Pascal Finetti, Christine Chevalier, Julien Vernerey, Mathilde Poplineau, Nadine Platet, Stéphane Audebert, Matthieu Pophillat, Luc Camoin, François Bertucci, Boris Calmels, Christian Récher, Daniel Birnbaum, Christian Chabannon, Norbert Vey…
Vigilant management of women with high-risk human papillomavirus (hrHPV) is necessary in cancer screening programs. To this end, we evaluated the performance of S5 (targeting DNA methylation in HPV16, HPV18, H...
Authors: Rubí Hernández-López, Attila T. Lorincz, Leticia Torres-Ibarra, Caroline Reuter, Dorota Scibior-Bentkowska, Rhian Warman, Belinda Nedjai, Indira Mendiola-Pastrana, Leith León-Maldonado, Berenice Rivera-Paredez, Paula Ramírez-Palacios, Eduardo Lazcano-Ponce, Jack Cuzick and Jorge Salmerón
B vitamins in the one-carbon metabolism pathway (folate, vitamin B6, and vitamin B12) have been implicated in DNA methylation, and their deficiency may contribute to cognitive decline through increased homocystei...
Authors: Yu An, Lingli Feng, Xiaona Zhang, Ying Wang, Yushan Wang, Lingwei Tao, Zhongsheng Qin and Rong Xiao
Bisphenol A (BPA), an estrogen-like endocrine disruptor used in plastics, has been associated with development and promotion of breast cancer, so plastic manufacturers shifted towards less-studied analogs, BPF...
Authors: Z. Awada, R. Nasr, R. Akika, V. Cahais, C. Cuenin, M. Zhivagui, Z. Herceg, A. Ghantous and N. K. Zgheib
While the aberrant translocation of the mixed-lineage leukemia (MLL) gene drives pathogenesis of acute myeloid leukemia (AML), it represents an independent predictor for poor prognosis of adult AML patients. T...
Authors: Jing Ye, Jie Zha, Yuanfei Shi, Yin Li, Delin Yuan, Qinwei Chen, Fusheng Lin, Zhihong Fang, Yong Yu, Yun Dai and Bing Xu
The onset and development of malignant tumors are closely related to epigenetic modifications, and this has become a research hotspot. In recent years, a variety of epigenetic regulators have been discovered, ...
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
