Estimates of biological age derived from DNA-methylation patterns—known as the epigenetic clock—are associated with mortality, physical and cognitive function, and frailty, but little is known about their rela...
Authors: Catharine R. Gale, Riccardo E. Marioni, Iva Čukić, Sebastien F. Chastin, Philippa M. Dall, Manon L. Dontje, Dawn A. Skelton and Ian J. Deary
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
We conducted an epigenome-wide association study (EWAS) on obesity in healthy youth and young adults and further examined to what extent identified signals influenced gene expression and were independent of ce...
Authors: Xiaoling Wang, Yue Pan, Haidong Zhu, Guang Hao, Yisong Huang, Vernon Barnes, Huidong Shi, Harold Snieder, James Pankow, Kari North, Megan Grove, Weihua Guan, Ellen Demerath, Yanbin Dong and Shaoyong Su
New efficient therapies for urothelial carcinoma (UC) are urgently required. Small-molecule drugs targeting chromatin regulators are reasonable candidates because these regulators are frequently mutated or der...
Authors: Alexander S. Hölscher, Wolfgang A. Schulz, Maria Pinkerneil, Günter Niegisch and Michèle J. Hoffmann
Lung function is an important predictor of morbidity and mortality, with accelerated lung function decline reported to have immense consequences for the world’s healthcare systems. The lung function decline ac...
Authors: Anneli C. S. Bolund, Anna Starnawska, Martin R. Miller, Vivi Schlünssen, Vibeke Backer, Anders D. Børglum, Kaare Christensen, Qihua Tan, Lene Christiansen and Torben Sigsgaard
Esophageal squamous cell carcinoma (ESCC) is one of the 10 most incident cancer types in the world, and it is mainly associated with tobacco and alcohol consumption. ESCC mortality rates stand very close to it...
Authors: Isabela Martins Gonzaga, Sheila Coelho Soares Lima, Marina Chianello Nicolau, Pedro Nicolau-Neto, Nathalia Meireles da Costa, Tatiana de Almeida Simão, Hector Hernandez-Vargas, Zdenko Herceg and Luis Felipe Ribeiro Pinto
This study was aimed at understanding whether bronchial biopsy specimen can be used as a surrogate for DNA methylation analysis in surgically resected lung cancer.
Authors: Sang-Won Um, Hong Kwan Kim, Yujin Kim, Bo Bin Lee, Dongho Kim, Joungho Han, Hojoong Kim, Young Mog Shim and Duk-Hwan Kim
DNA methylation has been implicated as a promising biomarker for precise cancer diagnosis. However, limited DNA methylation-based biomarkers have been described in esophageal squamous cell carcinoma (ESCC).
Authors: Weilin Pu, Chenji Wang, Sidi Chen, Dunmei Zhao, Yinghui Zhou, Yanyun Ma, Ying Wang, Caihua Li, Zebin Huang, Li Jin, Shicheng Guo, Jiucun Wang and Minghua Wang
MicroRNAs (miRNAs) in circulation have emerged as promising biomarkers. In this study, we aimed to identify a circulating miRNA signature for osteoarthritis (OA) patients and in combination with bioinformatics...
Authors: E. Ntoumou, M. Tzetis, M. Braoudaki, G. Lambrou, M. Poulou, K. Malizos, N. Stefanou, L. Anastasopoulou and A. Tsezou
Wilms tumor (WT) is a curable pediatric renal malignancy, but there is a need for new molecular biomarkers to improve relapse risk-directed therapy. Somatic alterations occur at relatively low frequencies wher...
Authors: Bruna M. de Sá Pereira, Rafaela Montalvão-de-Azevedo, Paulo Antônio Faria, Neimar de Paula Silva, Pedro Nicolau-Neto, Mariana Maschietto, Beatriz de Camargo and Sheila Coelho Soares Lima
Colorectal cancer (CRC) screening is the most efficient strategy to reduce disease-related mortality. Frequent aberrant DNA methylation is known to occur in selected genes and early during CRC development, whi...
Authors: Tae Jeong Oh, Hyun Il Oh, Yang Yei Seo, Dongjun Jeong, Changjin Kim, Hyoun Woo Kang, Yoon Dae Han, Hyun Cheol Chung, Nam Kyu Kim and Sungwhan An
SHOX2 and SEPT9 methylation in circulating cell-free DNA (ccfDNA) in blood are established powerful and clinically valuable biomarkers for diagnosis, staging, prognosis, and monitoring...
Authors: Luka de Vos, Heidrun Gevensleben, Andreas Schröck, Alina Franzen, Glen Kristiansen, Friedrich Bootz and Dimo Dietrich
In the last years, the explosion of high throughput sequencing technologies has enabled epigenome-wide analyses, allowing a more comprehensive overview of the oropharyngeal squamous cell carcinoma (OPSCC) epig...
Authors: Paolo Boscolo-Rizzo, Carlo Furlan, Valentina Lupato, Jerry Polesel and Elisabetta Fratta
Both defective DNA methylation and active DNA demethylation processes are emerging as important risk factors in chronic lymphocytic leukemia (CLL). However, associations between 5-cytosine epigenetic markers a...
Authors: Cristina Bagacean, Christelle Le Dantec, Christian Berthou, Adrian Tempescul, Hussam Saad, Anne Bordron, Mihnea Zdrenghea, Victor Cristea, Nathalie Douet-Guilbert and Yves Renaudineau
Hwang et al. recently showed that VGF substantially contributes to the resistance of human lung cancer cells towards epidermal growth factor receptor kinase inhibitors. This was further linked to enhanced epit...
Authors: Sebastian Marwitz, Lena Heinbockel, Swetlana Scheufele, Dörte Nitschkowski, Christian Kugler, Sven Perner, Martin Reck, Ole Ammerpohl and Torsten Goldmann
AXL is one of the TAM (TYRO3, AXL and MERTK) receptor tyrosine kinases and may affect numerous immune-related health conditions. However, the role for AXL in asthma, including its epig...
Authors: Lu Gao, Joshua Millstein, Kimberly D. Siegmund, Louis Dubeau, Rachel Maguire, Frank D. Gilliland, Susan K. Murphy, Cathrine Hoyo and Carrie V. Breton
Eating disorders (ED) are chronic psychiatric disorders, common amongst women of reproductive age. ED in pregnancy are associated with poor nutrition and abnormal intrauterine growth. Increasing evidence also ...
Authors: Nabila Kazmi, Tom R. Gaunt, Caroline Relton and Nadia Micali
The screening and diagnosis of colorectal cancer (CRC) currently relies heavily on invasive endoscopic techniques as well as imaging and antigen detection tools. More accessible and reliable biomarkers are nec...
Authors: Laura Moody, Hongshan He, Yuan-Xiang Pan and Hong Chen
HPV DNA testing as a primary screening marker is being implemented in several countries. Due to the high HPV prevalence in the screening population, effective triage strategies for HPV-positive cases are requi...
Authors: Martina Schmitz, Kristina Wunsch, Heike Hoyer, Cornelia Scheungraber, Ingo B. Runnebaum, Alfred Hansel and Matthias Dürst
Alcohol consumption during pregnancy is a significant public health problem and can result in a continuum of adverse outcomes to the fetus known as fetal alcohol spectrum disorders (FASD). Subjects with FASD s...
Authors: Nadia Rachdaoui, Ling Li, Belinda Willard, Takhar Kasumov, Stephen Previs and Dipak Sarkar
Hepatocellular carcinoma is the fifth most common malignancy and the third leading cause of cancer-related death worldwide. Dysregulation of HomeoboxD10 (HOXD10) was found to suppress or promote cancer progres...
Authors: Yulin Guo, Yaojun Peng, Dan Gao, Meiying Zhang, Weili Yang, Enqiang Linghu, James G. Herman, François Fuks, Guanglong Dong and Mingzhou Guo
ZNF331 was reported to be a transcriptional repressor. Methylation of the promoter region of ZNF331 has been found frequently in human esophageal and gastric cancers. The function and methylation status of ZNF...
Authors: Yuzhu Wang, Tao He, James G. Herman, Enqiang Linghu, Yunsheng Yang, François Fuks, Fuyou Zhou, Linjie Song and Mingzhou Guo
Multiple aberrant microRNA expression has been reported in gastric cancer. Among them, microRNA-335-5p (miR-335), a microRNA regulated by DNA methylation, has been reported to possess both tumor suppressor and...
Authors: Alejandra Sandoval-Bórquez, Iva Polakovicova, Nicolás Carrasco-Véliz, Lorena Lobos-González, Ismael Riquelme, Gonzalo Carrasco-Avino, Carolina Bizama, Enrique Norero, Gareth I. Owen, Juan C. Roa and Alejandro H. Corvalán
Recent studies have identified age-related changes in DNA methylation patterns in normal and cancer tissues in a process that is called epigenetic drift. However, the evolving patterns, functional consequences...
Authors: E. Georg Luebeck, Kit Curtius, William D. Hazelton, Sean Maden, Ming Yu, Prashanthi N. Thota, Deepa T. Patil, Amitabh Chak, Joseph E. Willis and William M. Grady
Asthma heritability has only been partially explained by genetic variants and is known to be sensitive to environmental factors, implicating epigenetic modifications such as DNA methylation in its pathogenesis.
Authors: Ryan Arathimos, Matthew Suderman, Gemma C. Sharp, Kimberley Burrows, Raquel Granell, Kate Tilling, Tom R. Gaunt, John Henderson, Susan Ring, Rebecca C. Richmond and Caroline L. Relton
Studies of genes that play an important role in the development of obesity are needed, especially studies focusing on genes that regulate food intake and affect nutrient metabolism. For example, the beta-3 adr...
Authors: Raquel Patrícia Ataíde Lima, Rayner Anderson Ferreira do Nascimento, Rafaella Cristhine Pordeus Luna, Darlene Camati Persuhn, Alexandre Sérgio da Silva, Maria da Conceição Rodrigues Gonçalves, Alessio Tony Cavalcanti de Almeida, Ronei Marcos de Moraes, Eliseu Verly Junior, Emmanuelle Fouilloux-Meugnier, Hubert Vidal, Luciano Pirola, Marciane Magnani, Naila Francis Paulo de Oliveira, Patrícia Oliveira Prada and Maria José de Carvalho Costa
Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole ge...
Authors: Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth and Reiner Siebert
KIBRA has been suggested as a key regulator of the Hippo signaling pathway, regulating organ size, cell contact inhibition, tissue regeneration as well as tumorigenesis and cystogenesis. We recently reported t...
Authors: Katrin Schelleckes, Boris Schmitz, Giuliano Ciarimboli, Malte Lenders, Hermann J. Pavenstädt, Edwin Herrmann, Stefan-Martin Brand and Eva Brand
Decitabine is a deoxycytidine nucleoside derivative inhibitor of DNA-methyltransferases, which has been studied extensively and is approved for myelodysplastic syndrome in adults but with less focus in childre...
Authors: Lia Gore, Timothy J. Triche Jr, Jason E. Farrar, Daniel Wai, Christophe Legendre, Gerald C. Gooden, Winnie S. Liang, John Carpten, David Lee, Frank Alvaro, Margaret E. Macy, Carola Arndt, Philip Barnette, Todd Cooper, Laura Martin, Aru Narendran…
Type 2 diabetes is a complex trait with both environmental and hereditary factors contributing to the overall pathogenesis. One link between genes, environment, and disease is epigenetics influencing gene tran...
Aortic valve stenosis is the most common cardiac valve disease, and with current trends in the population demographics, its prevalence is likely to rise, thus posing a major health and economic burden facing t...
Authors: Igor Gošev, Martina Zeljko, Željko Đurić, Ivana Nikolić, Milorad Gošev, Sanja Ivčević, Dino Bešić, Zoran Legčević and Frane Paić
There is increasing evidence for the role of prenatal stress in shaping offspring DNA methylation and disease susceptibility. In the current study, we aimed to identify genes and pathways associated with pregn...
Authors: Elise Beau Vangeel, Ehsan Pishva, Titia Hompes, Daniel van den Hove, Diether Lambrechts, Karel Allegaert, Kathleen Freson, Benedetta Izzi and Stephan Claes
Systemic lupus erythematosus (SLE) is an autoimmune disease that is characterized by lymphocytic infiltration and overproduction of autoantibodies, leading to significant morbidity and mortality. However, the ...
Authors: Wei Liao, Mengying Li, Haijing Wu, Sujie Jia, Nu Zhang, Yong Dai, Ming Zhao and Qianjin Lu
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…
Given that metformin is the most common pharmacological therapy for type 2 diabetes, understanding the function of this drug is of great importance. Hepatic metformin transporters are responsible for the pharm...
Authors: Sonia García-Calzón, Alexander Perfilyev, Ville Männistö, Vanessa D. de Mello, Emma Nilsson, Jussi Pihlajamäki and Charlotte Ling
Occult hepatitis B virus infection (OBI) is an important risk factor of liver cirrhosis and hepatocellular carcinoma. Type 1 interferon (IFN) signaling-related miRNAs were significantly associated with hepatit...
Authors: Yiying Wang, Peifu Zhu, Jing Qiu, Jie Wang, Huijuan Zhu, Yinwei Zhu, Lige Zhang, Jie Zhu, Xingxiang Liu and Chen Dong
Genome-wide association studies (GWASs) have identified dozens of loci associated with gout, but for most cases, the risk genes and the underlying molecular mechanisms contributing to these associations are un...
Authors: Zaihua Zhu, Weida Meng, Peiru Liu, Xiaoxia Zhu, Yun Liu and Hejian Zou
In this letter to the editor, we highlight some concerns with a recently published method to estimate gestational age at delivery from DNA methylation data. We conduct novel analyses to highlight the implicati...
Authors: Andrew J. Simpkin, Matthew Suderman and Laura D. Howe
Respiratory diseases hold several genome, epigenome, and transcriptional aberrations as a cause of the accumulated damage promoted by, among others, environmental risk factors. Such aberrations can also come a...
Authors: Abril Marcela Herrera-Solorio, Leonel Armas-López, Oscar Arrieta, Joaquín Zúñiga, Patricia Piña-Sánchez and Federico Ávila-Moreno
Head and neck squamous cell carcinoma (HNSCC) is the sixth most prevalent cancer worldwide with rates of HPV-positive oropharyngeal squamous cell carcinoma (OPSCC) dramatically increasing. The overexpression o...
Authors: Cameron D. Lindsay, Morris A. Kostiuk, Jeff Harris, Daniel A. O’Connell, Hadi Seikaly and Vincent L. Biron
Patients with early colorectal cancer (stages I–II) generally have a good prognosis, but a subgroup of 15–20% experiences relapse and eventually die of disease. Occult metastases have been suggested as a marke...
Authors: Guro E. Lind, Marianne Guriby, Terje Ahlquist, Israr Hussain, Marine Jeanmougin, Kjetil Søreide, Hartwig Kørner, Ragnhild A. Lothe and Oddmund Nordgård
We have previously demonstrated a Toll-like receptor (TLR)-mediated hyper-responsive phenotype in our cohort of localized aggressive periodontitis (LAP) individuals. However, mechanisms related to this phenoty...
Authors: L. M. Shaddox, A. F. Mullersman, H. Huang, S. M. Wallet, T. Langaee and I. Aukhil
Obesity is a disease that is caused by genetic and environmental factors. However, epigenetic mechanisms of obesity are less well known. DNA methylation provides a mechanism whereby environmental factors can i...
Authors: Samantha E. Day, Luis A. Garcia, Richard L. Coletta, Latoya E. Campbell, Tonya R. Benjamin, Elena A. De Filippis, James A. Madura II, Lawrence J. Mandarino, Lori R. Roust and Dawn K. Coletta
Cellular senescence due to genomic instability is believed to be one of the mechanisms causing health problems in diabetes mellitus (DM). Low methylation levels of Alu elements or Alu hypomethylation, an epige...
Authors: Jirapan Thongsroy, Maturada Patchsung and Apiwat Mutirangura
Werner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome,...
Authors: T. Guastafierro, M. G. Bacalini, A. Marcoccia, D. Gentilini, S. Pisoni, A. M. Di Blasio, A. Corsi, C. Franceschi, D. Raimondo, A. Spanò, P. Garagnani and F. Bondanini
Aberrant CpG island methylation has been increasingly recognized as a common event in myelodysplastic syndrome (MDS). To date, most of the previous studies of miR-124 in MDS have focused on epigenetic changes ...
Authors: Hong Wang, Tong-Tong Zhang, Song Jin, Hong Liu, Xiang Zhang, Chang-Geng Ruan, De-Pei Wu, Yue Han and Xiao-Qin Wang
Imprinted domains have been identified as targets for aberrant DNA methylation during carcinogenesis, but it remains unclear when these epigenetic alterations occur and how they contribute to tumor progression...
Authors: Corey L. Bretz, Ingeborg M. Langohr and Joomyeong Kim
Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIP...
Authors: Daniel A. Newkirk, Yen-Yun Chen, Richard Chien, Weihua Zeng, Jacob Biesinger, Ebony Flowers, Shimako Kawauchi, Rosaysela Santos, Anne L. Calof, Arthur D. Lander, Xiaohui Xie and Kyoko Yokomori
DNA methylation has started a recent revolution in genomics biology by identifying key biomarkers for multiple cancers, including oral squamous cell carcinoma (OSCC), the most common head and neck squamous cel...
Authors: Sipeng Shen, Guanrong Wang, Qianwen Shi, Ruyang Zhang, Yang Zhao, Yongyue Wei, Feng Chen and David C. Christiani
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
