The human chromosome 14q32.2 imprinted region harbors the primary MEG3/DLK1:IG-differentially methylated region (DMR) and secondary MEG3:TSS-DMR. The MEG3:TSS-DMR can remain unmethylated only in the presence of u...
Epigenetic alternation is a common contributing factor to neoplastic transformation. Although previous studies have reported a cluster of aberrant promoter methylation changes associated with silencing of tumo...
Authors: Simeng Gu, Shujuan Lin, Ding Ye, Sangni Qian, Danjie Jiang, Xiaocong Zhang, Qilong Li, Jinhua Yang, Xiaojiang Ying, Zhenjun Li, Mengling Tang, Jianbing Wang, Mingjuan Jin and Kun Chen
Isolated orofacial clefts are among the most common congenital birth defects. Although the underlying biological mechanisms remain largely unknown, clefts are thought to be complex disorders influenced by gene...
Authors: Zongli Xu, Rolv T. Lie, Allen J. Wilcox, Ola Didrik Saugstad and Jack A. Taylor
Cholangiocarcinoma (CCA) is a fatal cancer of the bile duct epithelial cell lining. The misdiagnosis of CCA and other biliary diseases may occur due to the similarity of clinical manifestations and blood tests...
Authors: Wiphawan Wasenang, Ponlatham Chaiyarit, Siriporn Proungvitaya and Temduang Limpaiboon
The current prognosis of thymic epithelial tumors (TETs) is according to the World Health Organization (WHO) histologic classification and the Masaoka staging system. These methods of prognosis have certain li...
Authors: Songlin Li, Yuan Yuan, He Xiao, Jiajia Dai, Yunfei Ye, Qin Zhang, Zhimin Zhang, Yuhan Jiang, Jia Luo, Jing Hu, Chuan Chen and Ge Wang
Ambient air pollution is associated with numerous adverse health outcomes, but the underlying mechanisms are not well understood; epigenetic effects including altered DNA methylation could play a role. To eval...
Authors: Mi Kyeong Lee, Cheng-Jian Xu, Megan U. Carnes, Cody E. Nichols, James M. Ward, Sung Ok Kwon, Sun-Young Kim, Woo Jin Kim and Stephanie J. London
Human 15q11–13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These ...
Genome-wide studies have begun to link subtle variations in both allelic DNA methylation and parent-of-origin genetic effects with early development. Numerous reports have highlighted that the placenta plays a...
Authors: Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, Jose Ramon Hernandez Mora, Nuria Tubío Santamaría, Eduard Gratacós, Manel Esteller, Miguel López de Heredia, Virgina Nunes, Cecile Choux, Patricia Fauque, Guiomar Perez de Nanclares, Lauren Anton, Michal A. Elovitz, Isabel Iglesias-Platas and David Monk
Epigenetic pathways play a pivotal role in the development and function of the immune system. Over the last decade, a growing body of studies has been published out seeking to explain a correlation between epi...
Authors: Roberta Mazzone, Clemens Zwergel, Marco Artico, Samanta Taurone, Massimo Ralli, Antonio Greco and Antonello Mai
Pathological complete response (pCR) after neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC) varies between 30 and 40% approximately. To provide further insight into the prediction of pCR,...
Authors: Begoña Pineda, Angel Diaz-Lagares, José Alejandro Pérez-Fidalgo, Octavio Burgués, Inés González-Barrallo, Ana B. Crujeiras, Juan Sandoval, Manel Esteller, Ana Lluch and Pilar Eroles
In utero exposure to tobacco products, whether maternal or environmental, have harmful effects on first neonatal and later adult respiratory outcomes. These effects have been shown to persist across subsequent...
Authors: Razia Zakarya, Ian Adcock and Brian G. Oliver
Maternal blood folate concentrations during pregnancy have been previously linked with DNA methylation patterns, but this has been done predominantly through observational studies. We showed recently in an epi...
Authors: Rachelle E. Irwin, Sara-Jayne Thursby, Miroslava Ondičová, Kristina Pentieva, Helene McNulty, Rebecca C. Richmond, Aoife Caffrey, Diane J. Lees-Murdock, Marian McLaughlin, Tony Cassidy, Matthew Suderman, Caroline L. Relton and Colum P. Walsh
Deletions of the imprinting centre 1 (IC1) in 11p15.5 are rare and their clinical significance is not only influenced by their parental origin but also by their exact genomic localization. In case the maternal...
Authors: Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht and Thomas Eggermann
Nearly 25% of long intergenic non-coding RNAs (lincRNAs) recruit chromatin-modifying proteins (e.g., EZH2) to silence target genes. HOX antisense intergenic RNA (HOTAIR) is deregulated in diverse cancers and c...
Authors: Yu Ren, Yun-fei Wang, Jing Zhang, Qi-xue Wang, Lei Han, Mei Mei and Chun-sheng Kang
Patients with unprovoked first venous thromboembolism (VTE) are at a high risk of recurrence. Although circulating microRNAs (miRNAs) have been found to be associated with VTE and are markers of hypercoagulabi...
Authors: Xiao Wang, Kristina Sundquist, Peter J. Svensson, Hamideh Rastkhani, Karolina Palmér, Ashfaque A. Memon, Jan Sundquist and Bengt Zöller
Genetic and environmental risk factors contribute to periodontal disease, but the underlying susceptibility pathways are not fully understood. Epigenetic mechanisms are malleable regulators of gene function th...
Authors: Yuko Kurushima, Pei-Chien Tsai, Juan Castillo-Fernandez, Alexessander Couto Alves, Julia Sarah El-Sayed Moustafa, Caroline Le Roy, Tim D. Spector, Mark Ide, Francis J. Hughes, Kerrin S. Small, Claire J. Steves and Jordana T. Bell
Preterm birth (PTB), defined as child birth before completion of 37 weeks of gestation, is a major challenge in perinatal health care and can bear long-term medical and financial burden. Over a million childre...
Authors: Yonghui Wu, Xinyi Lin, Ives Yubin Lim, Li Chen, Ai Ling Teh, Julia L. MacIsaac, Kok Hian Tan, Michael S. Kobor, Yap Seng Chong, Peter D. Gluckman and Neerja Karnani
MicroRNAs (miRNAs) are small non-coding RNAs with a length of about 19–25 nt, which can regulate various target genes and are thus involved in the regulation of a variety of biological and pathological process...
Authors: Wengong Si, Jiaying Shen, Huilin Zheng and Weimin Fan
Blood-based gene expression or epigenetic biomarkers of Parkinson’s disease (PD) are highly desirable. However, accuracy and specificity need to be improved, and methods for the integration of gene expression ...
Authors: Changliang Wang, Liang Chen, Yang Yang, Menglei Zhang and Garry Wong
Multiple epigenome-wide association studies have been performed to identify DNA methylation patterns regulated by aging or correlated with risk of death. However, the inter-relatedness of the epigenetic basis ...
Authors: Jesper Beltoft Lund, Shuxia Li, Jan Baumbach, Anne Marie Svane, Jacob Hjelmborg, Lene Christiansen, Kaare Christensen, Paul Redmond, Riccardo E. Marioni, Ian J. Deary and Qihua Tan
Circular RNA (circRNA) is involved in the pathological processes of various diseases. CircRNA is more stable than linear RNAs and is expressed in high levels in tissues, making it a better biomarker candidate ...
Authors: Hangyu Wu, Siyang Wu, Yingchao Zhu, Mei Ye, Jun Shen, Yan Liu, Yisheng Zhang and Shizhong Bu
Human-assisted reproductive technologies (ART) are a widely accepted treatment for infertile couples. At the same time, many studies have suggested the correlation between ART and increased incidences of norma...
It is well established that obesity is associated with dysregulation of the ratio between the two major adipokines leptin and adiponectin. Furthermore, it was recently reported that maternal obesity has a sign...
Authors: Perrine Nogues, Esther Dos Santos, Hélène Jammes, Paul Berveiller, Lucie Arnould, François Vialard and Marie-Noëlle Dieudonné
Differentiation of induced pluripotent stem cells (iPSCs) toward hematopoietic progenitor cells (HPCs) raises high hopes for disease modeling, drug screening, and cellular therapy. Various differentiation prot...
Authors: Olivia Cypris, Joana Frobel, Shivam Rai, Julia Franzen, Stephanie Sontag, Roman Goetzke, Marcelo A. Szymanski de Toledo, Martin Zenke and Wolfgang Wagner
Children prenatally exposed to maternal depression more often show behavioral and emotional problems compared to unexposed children, possibly through epigenetic alterations. Current evidence is largely based o...
Authors: Laura S. Bleker, Jeannette Milgrom, Alexandra Sexton-Oates, Tessa J. Roseboom, Alan W. Gemmill, Christopher J. Holt, Richard Saffery, Huibert Burger and Susanne R. de Rooij
Hormone-dependent gene expression involves dynamic and orchestrated regulation of epigenome leading to a cancerous state. Estrogen receptor (ER)-positive breast cancer rely on chromatin remodeling and associat...
Authors: Wenjie Liu, Yi Cui, Wen Ren and Joseph Irudayaraj
DNA methylation microarrays are popular for epigenome-wide association studies (EWAS), but spurious values complicate downstream analysis and threaten replication. Conventional cut-offs for detection p values for...
Reactive oxygen species may be involved in epigenetic gene activation or silencing. We aimed to identify CpG sites, at which DNA methylation is related to urinary 8-isoprostane levels (biomarker of lipid perox...
Authors: Xīn Gào, Yan Zhang, Barbara Burwinkel, Yang Xuan, Bernd Holleczek, Hermann Brenner and Ben Schöttker
Neural tube defects (NTDs) are common and severe congenital malformations. Pax3 is an essential gene for neural tube closure in mice but it is unknown whether altered expression or methylation of PAX3 contributes...
Authors: Shanshan Lin, Aiguo Ren, Linlin Wang, Chloe Santos, Yun Huang, Lei Jin, Zhiwen Li and Nicholas D. E. Greene
Epigenetic clocks may increase our understanding on human aging and how genetic and environmental factors regulate an individual aging process. One of the most promising clocks is Horvath’s DNA methylation (DN...
Authors: Elina Sillanpää, Miina Ollikainen, Jaakko Kaprio, Xiaoling Wang, Tuija Leskinen, Urho M. Kujala and Timo Törmäkangas
The diagnosis of glioblastoma (GBM), a most aggressive primary brain tumor with a median survival of 14.6 months, carries a dismal prognosis. GBMs are characterized by numerous genetic and epigenetic alteratio...
Authors: Halina Was, Sylwia K. Krol, Dante Rotili, Antonello Mai, Bartosz Wojtas, Bozena Kaminska and Marta Maleszewska
Non-alcoholic fatty liver disease has been associated with increased mRNA expression of FADS2 in the liver and estimated activity of delta-6 desaturase in serum, encoded by the FADS2 gene. Since DNA methylation i...
Authors: Paula Walle, Ville Männistö, Vanessa Derenji de Mello, Maija Vaittinen, Alexander Perfilyev, Kati Hanhineva, Charlotte Ling and Jussi Pihlajamäki
Efficient treatments against metastatic melanoma dissemination are still lacking. Here, we report that low-cytotoxic concentrations of 5-aza-2′-deoxycytidine, a DNA demethylating agent, prevent in vitro 3D inv...
Authors: Cécile Desjobert, Arnaud Carrier, Audrey Delmas, Diego M. Marzese, Antoine Daunay, Florence Busato, Arnaud Pillon, Jörg Tost, Joëlle Riond, Gilles Favre, Chantal Etievant and Paola B. Arimondo
In osteosarcoma (OS), chemotherapy resistance has become one of the greatest issues leading to high mortality among patients. However, the mechanisms of drug resistance remain elusive, limiting therapeutic eff...
Ovarian cancer is the deadliest gynecologic malignancy, with a 5-year survival rate of approximately 47%, a number that has remained constant over the past two decades. Early diagnosis improves survival, but u...
Authors: Sara Moufarrij, Monica Dandapani, Elisa Arthofer, Stephanie Gomez, Aneil Srivastava, Micael Lopez-Acevedo, Alejandro Villagra and Katherine B. Chiappinelli
Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The ...
Authors: Louise F. Porter, Neil Saptarshi, Yongxiang Fang, Sonika Rathi, Anneke I. den Hollander, Eiko K. de Jong, Simon J. Clark, Paul N. Bishop, Timothy W. Olsen, Triantafillos Liloglou, Venkata R. M. Chavali and Luminita Paraoan
Epigenetic (including DNA and histone) modifications occur in a variety of neurological disorders. If epigenetic features of brain autopsy material are to be studied, it is critical to understand the post-mort...
Authors: Jessica S. Jarmasz, Hannah Stirton, James R. Davie and Marc R. Del Bigio
Disruptor of telomeric silencing 1-like (DOT1L) is a non-SET domain containing methyltransferase known to catalyze mono-, di-, and tri-methylation of histone 3 on lysine 79 (H3K79me). DOT1L-mediated H3K79me ha...
Authors: Vijayalakshmi Kari, Sanjay Kumar Raul, Jana Maria Henck, Julia Kitz, Frank Kramer, Robyn Laura Kosinsky, Nadine Übelmesser, Wael Yassin Mansour, Jessica Eggert, Melanie Spitzner, Zeynab Najafova, Holger Bastians, Marian Grade, Jochen Gaedcke, Florian Wegwitz and Steven A. Johnsen
The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can oc...
Authors: F. M. Elli, L. deSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart and G. Mantovani
Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GISTs) constitute a small KIT/PDGFRA-WT GIST subgroup featuring DNA methylation which, although pervasive, appears nevertheless not randoml...
Authors: Riccardo Ricci, Maurizio Martini, Gloria Ravegnini, Tonia Cenci, Massimo Milione, Paola Lanza, Francesco Pierconti, Donatella Santini, Sabrina Angelini, Alberto Biondi, Fausto Rosa, Sergio Alfieri, Gennaro Clemente, Roberto Persiani, Alessandra Cassano, Maria A. Pantaleo…
DNA methylation alteration extensively associates with smoking and is a plausible link between smoking and adverse health. We examined the association between epigenome-wide DNA methylation and serum cotinine ...
Authors: Richa Gupta, Jenny van Dongen, Yu Fu, Abdel Abdellaoui, Rachel F. Tyndale, Vidya Velagapudi, Dorret I. Boomsma, Tellervo Korhonen, Jaakko Kaprio, Anu Loukola and Miina Ollikainen
There are some limitations of standard chemotherapy for acute leukemia. Vincristine and doxorubicin are commonly used for acute leukemia, but they may induce serious side effects such as cardiomyopathy and neu...
Authors: Huang-Ju Tu, Yi-Jyun Lin, Min-Wu Chao, Ting-Yi Sung, Yi-Wen Wu, Yi-Ying Chen, Mei-Hsiang Lin, Jing-Ping Liou, Shiow-Lin Pan and Chia-Ron Yang
Most research into myocardial infarctions (MIs) have focused on preventative efforts. For survivors, the occurrence of an MI represents a major clinical event that can have long-lasting consequences. There has...
Authors: Cavin K. Ward-Caviness, Golareh Agha, Brian H. Chen, Liliane Pfeiffer, Rory Wilson, Petra Wolf, Christian Gieger, Joel Schwartz, Pantel S. Vokonas, Lifang Hou, Allan C. Just, Stefania Bandinelli, Dena G. Hernandez, Andrew B. Singleton, Holger Prokisch, Thomas Meitinger…
Psoriasis (Ps) is a common chronic inflammatory skin disease. The keratinocytes of psoriatic skin defy normal apoptosis and exhibit active cell proliferation. Aberrant DNA methylation (DNAm) has been suggested...
Authors: Changbing Shen, Leilei Wen, Randy Ko, Jing Gao, Xue Shen, Xianbo Zuo, Liangdan Sun, Yi-Hsiang Hsu, Xuejun Zhang, Yong Cui, Meng Wang and Fusheng Zhou
Epigenetic age acceleration (an older methylation age compared to chronological age) correlates strongly with various age-related morbidities and mortality. Chronic systemic inflammation is thought to be a hal...
Authors: Anna J. Stevenson, Daniel L. McCartney, Sarah E. Harris, Adele M. Taylor, Paul Redmond, John M. Starr, Qian Zhang, Allan F. McRae, Naomi R. Wray, Tara L. Spires-Jones, Barry W. McColl, Andrew M. McIntosh, Ian J. Deary and Riccardo E. Marioni
Spatial and subclonal genetic heterogeneity in multiple myeloma (MM) have been demonstrated by sequencing of plasma cells from multi-focal regions, but studies of spatial epigenetic heterogeneity are scanty. H...
Authors: Qiumei Yao, Gareth J. Morgan and Chor Sang Chim
Different cell types possess different copies of mtDNA to support their specific requirements for cellular metabolism. Cell-specific mtDNA copy numbers are established through cell-specific mtDNA replication d...
Authors: Xin Sun, Vijesh Vaghjiani, W. Samantha N. Jayasekara, Jason E. Cain and Justin C. St. John
Metformin is a widely prescribed antihyperglycemic agent that has been also associated with multiple therapeutic effects in various diseases, including several types of malignancies. There is growing evidence ...
Authors: Ilze Elbere, Ivars Silamikelis, Monta Ustinova, Ineta Kalnina, Linda Zaharenko, Raitis Peculis, Ilze Konrade, Diana Maria Ciuculete, Christina Zhukovsky, Dita Gudra, Ilze Radovica-Spalvina, Davids Fridmanis, Valdis Pirags, Helgi B. Schiöth and Janis Klovins
The effects of tobacco smoking on epigenome-wide methylation signatures in white blood cells (WBCs) collected from persons living with HIV may have important implications for their immune-related outcomes, inc...
Authors: Xinyu Zhang, Ying Hu, Bradley E. Aouizerat, Gang Peng, Vincent C. Marconi, Michael J. Corley, Todd Hulgan, Kendall J. Bryant, Hongyu Zhao, John H. Krystal, Amy C. Justice and Ke Xu
