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Endocrinology and Metabolic Epigenetics

Section information

Section Editor : Charlotte Ling

Associate Editors : Richard Saffery, Sam El-Osta

Non-communicable disorders of metabolic/endocrine origin are amongst the largest contributors to the burden of mortality and morbidity in the 21st century. Mounting evidence links epigenetic disruption throughout the life course in the etiology of such conditions. A full understanding of their origin requires an in-depth examination of the interplay between genetic, epigenetic and environmental factors. Submissions to this section should increase our understanding of the role of epigenetic processes in the etiology of diseases of metabolic or endocrine origin in either animal model or human observational studies.

  1. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:96

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  2. Content type: Research

    Women with polycystic ovary syndrome (PCOS) manifest a host of ovarian defects like impaired folliculogenesis, anovulation, and poor oocyte quality, which grossly affect their reproductive health. Addressing t...

    Authors: Pooja Sagvekar, Pankaj Kumar, Vijay Mangoli, Sadhana Desai and Srabani Mukherjee

    Citation: Clinical Epigenetics 2019 11:61

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  3. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:30

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  4. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:22

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  5. Content type: Research

    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

    Citation: Clinical Epigenetics 2019 11:10

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    The Correction to this article has been published in Clinical Epigenetics 2019 11:47

  6. Content type: Research

    Increased lower body fat is associated with reduced cardiometabolic risk. The molecular basis for depot-specific differences in gluteofemoral (GF) compared with abdominal (A) subcutaneous adipocyte function is...

    Authors: Adeline Divoux, Katalin Sandor, Dora Bojcsuk, Amlan Talukder, Xiaoman Li, Balint L. Balint, Timothy F. Osborne and Steven R. Smith

    Citation: Clinical Epigenetics 2018 10:148

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  7. Content type: Research

    Recent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty. We aimed to investigate the association of DNAm profi...

    Authors: Danielle S. Bessa, Mariana Maschietto, Carlos Francisco Aylwin, Ana P. M. Canton, Vinicius N. Brito, Delanie B. Macedo, Marina Cunha-Silva, Heloísa M. C. Palhares, Elisabete A. M. R. de Resende, Maria de Fátima Borges, Berenice B. Mendonca, Irene Netchine, Ana C. V. Krepischi, Alejandro Lomniczi, Sergio R. Ojeda and Ana Claudia Latronico

    Citation: Clinical Epigenetics 2018 10:146

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  8. Content type: Short report

    Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease-associated mutations fall into two categories: HNF1B intragenic mutations and a...

    Authors: Rhian L. Clissold, Beth Ashfield, Joe Burrage, Eilis Hannon, Coralie Bingham, Jonathan Mill, Andrew Hattersley and Emma L. Dempster

    Citation: Clinical Epigenetics 2018 10:97

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  9. Content type: Short report

    Altered DNA methylation events contribute to the pathogenesis and progression of metabolic disorders, including nonalcoholic fatty liver disease (NAFLD). Investigations of global DNA methylation patterns in li...

    Authors: Glenn S. Gerhard, Ivana Malenica, Lorida Llaci, Xin Chu, Anthony T. Petrick, Christopher D. Still and Johanna K. DiStefano

    Citation: Clinical Epigenetics 2018 10:93

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  10. Content type: Research

    Subclinical hypercortisolism and hypothalamic-pituitary-adrenal (HPA) axis dysfunction are associated with type 2 diabetes (T2DM), cardiovascular disease, and metabolic dysfunction. Intronic methylation of FKBP5 ...

    Authors: Robin Ortiz, Joshua J. Joseph, Richard Lee, Gary S. Wand and Sherita Hill Golden

    Citation: Clinical Epigenetics 2018 10:82

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  11. Content type: Research

    There are many reasons to think that epigenetics is a key determinant of fetal growth variability across the normal population. Since IGF1 and INS genes are major determinants of intrauterine growth, we examined ...

    Authors: Catherine Le Stunff, Anne-Laure Castell, Nicolas Todd, Clémence Mille, Marie-Pierre Belot, Nathalie Frament, Sylvie Brailly-Tabard, Alexandra Benachi, Delphine Fradin and Pierre Bougnères

    Citation: Clinical Epigenetics 2018 10:57

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    The Correction to this article has been published in Clinical Epigenetics 2018 10:74

  12. Content type: Review

    Monosomy of the X chromosome is the most frequent genetic abnormality in human as it is present in approximately 2% of all conceptions, although 99% of these embryos are spontaneously miscarried. In postnatal ...

    Authors: Francisco Álvarez-Nava and Roberto Lanes

    Citation: Clinical Epigenetics 2018 10:45

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  13. Content type: Research

    Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine ...

    Authors: Francesca Marta Elli, Paolo Bordogna, Maura Arosio, Anna Spada and Giovanna Mantovani

    Citation: Clinical Epigenetics 2018 10:16

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  14. Content type: Research

    Polycystic ovary syndrome (PCOS), whose etiology remains uncertain, is a highly heterogenous and genetically complex endocrine disorder. The aim of this study was to identify differentially expressed genes (DE...

    Authors: Jie-Xue Pan, Ya-Jing Tan, Fang-Fang Wang, Ning-Ning Hou, Yu-Qian Xiang, Jun-Yu Zhang, Ye Liu, Fan Qu, Qing Meng, Jian Xu, Jian-Zhong Sheng and He-Feng Huang

    Citation: Clinical Epigenetics 2018 10:6

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  15. Content type: Research

    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

    Citation: Clinical Epigenetics 2018 10:3

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  16. Content type: Research

    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

    Citation: Clinical Epigenetics 2017 9:102

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  17. Content type: Research

    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

    Citation: Clinical Epigenetics 2017 9:99

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  18. Content type: Short report

    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

    Citation: Clinical Epigenetics 2017 9:96

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  19. Content type: Research

    Fetal development largely depends on thyroid hormone availability and proper placental function with an important role played by placental mitochondria. The biological mechanisms by which thyroid hormones exer...

    Authors: Bram G. Janssen, Hyang-Min Byun, Harry A. Roels, Wilfried Gyselaers, Joris Penders, Andrea A. Baccarelli and Tim S. Nawrot

    Citation: Clinical Epigenetics 2017 9:66

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  20. Content type: Research

    Epigenetic mechanisms provide an interface between environmental factors and the genome and are known to play a role in complex diseases such as obesity. These mechanisms, including DNA methylation, influence ...

    Authors: Donia Macartney-Coxson, Miles C. Benton, Ray Blick, Richard S. Stubbs, Ronald D. Hagan and Michael A. Langston

    Citation: Clinical Epigenetics 2017 9:48

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  21. Content type: Review

    The early detection of type 1 diabetes (T1D) largely depends on a reliable approach to monitor β cell loss. An effective way to evaluate the decline of β cell mass would allow early preventative intervention t...

    Authors: Kuo Zhang, Guigao Lin, Yanxi Han, Jiehong Xie and Jinming Li

    Citation: Clinical Epigenetics 2017 9:44

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  22. Content type: Research

    Offspring of women with diabetes in pregnancy are at increased risk of type 2 diabetes mellitus (T2DM), potentially mediated by epigenetic mechanisms. The adipokines leptin, adiponectin, and resistin (genes: LEP,...

    Authors: Azadeh Houshmand-Oeregaard, Ninna S. Hansen, Line Hjort, Louise Kelstrup, Christa Broholm, Elisabeth R. Mathiesen, Tine D. Clausen, Peter Damm and Allan Vaag

    Citation: Clinical Epigenetics 2017 9:37

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  23. Content type: Research

    A role of proinflammation has been implicated in the pathogenesis of diabetes, but the up-stream regulatory signals and molecular signatures are poorly understood. While histone modifications such as changes i...

    Authors: Chandrakumar Sathishkumar, Paramasivam Prabu, Mahalingam Balakumar, Raji Lenin, Durai Prabhu, Ranjith Mohan Anjana, Viswanathan Mohan and Muthuswamy Balasubramanyam

    Citation: Clinical Epigenetics 2016 8:125

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  24. Content type: Research

    Associations between BMI and DNA methylation of hypoxia-inducible factor 3-alpha (HIF3A) in both blood cells and subcutaneous adipose tissue (SAT) have been reported. In this study, we investigated associations b...

    Authors: Ailsa Maria Main, Linn Gillberg, Anna Louisa Jacobsen, Emma Nilsson, Anette Prior Gjesing, Torben Hansen, Oluf Pedersen, Rasmus Ribel-Madsen and Allan Vaag

    Citation: Clinical Epigenetics 2016 8:89

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  25. Content type: Research

    Gestational diabetes mellitus (GDM) is associated with adverse pregnancy outcomes. It is known that GDM is associated with an altered placental function and changes in placental gene regulation. More recent st...

    Authors: C. Reichetzeder, S. E. Dwi Putra, T. Pfab, T. Slowinski, C. Neuber, B. Kleuser and B. Hocher

    Citation: Clinical Epigenetics 2016 8:82

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  26. Content type: Research

    Obesity is a metabolic disease caused by environmental and genetic factors. However, the epigenetic mechanisms of obesity are incompletely understood. The aim of our study was to investigate the role of skelet...

    Authors: Samantha E. Day, Richard L. Coletta, Joon Young Kim, Latoya E. Campbell, Tonya R. Benjamin, Lori R. Roust, Elena A. De Filippis, Valentin Dinu, Gabriel Q. Shaibi, Lawrence J. Mandarino and Dawn K. Coletta

    Citation: Clinical Epigenetics 2016 8:77

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  27. Content type: Research

    Children exposed to gestational diabetes mellitus (GDM) are at a higher risk of developing obesity and type 2 diabetes. This susceptibility might involve brown adipose tissue (BAT), which is suspected to prote...

    Authors: Sandra Côté, Valérie Gagné-Ouellet, Simon-Pierre Guay, Catherine Allard, Andrée-Anne Houde, Patrice Perron, Jean-Patrice Baillargeon, Daniel Gaudet, Renée Guérin, Diane Brisson, Marie-France Hivert and Luigi Bouchard

    Citation: Clinical Epigenetics 2016 8:72

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  28. Content type: Research

    Weight gain is one of the consequences of estrogen deficiency and constitutes a major health problem. The present study highlights the effects of N-methyl pyrrolidone (NMP) on adipogenesis in osteoporosis indu...

    Authors: Bebeka Gjoksi, Chafik Ghayor, Indranil Bhattacharya, Marcy Zenobi-Wong and Franz E. Weber

    Citation: Clinical Epigenetics 2016 8:42

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  29. Content type: Research

    There is growing interest in the hypertriglyceridemic waist (HTGW) phenotype, defined as high waist circumference (≥95 cm in males and ≥80 cm in females) combined with high serum triglyceride concentration (≥2...

    Authors: Manju Mamtani, Hemant Kulkarni, Thomas D. Dyer, Harald H. H. Göring, Jennifer L. Neary, Shelley A. Cole, Jack W. Kent, Satish Kumar, David C. Glahn, Michael C. Mahaney, Anthony G. Comuzzie, Laura Almasy, Joanne E. Curran, Ravindranath Duggirala, John Blangero and Melanie A. Carless

    Citation: Clinical Epigenetics 2016 8:6

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  30. Content type: Research

    Obesity is associated with changes in fat cell gene expression and metabolism. What drives these changes is not well understood. We aimed to explore fat cell epigenetics, i.e., DNA methylation, as one mediator...

    Authors: Peter Arner, Indranil Sinha, Anders Thorell, Mikael Rydén, Karin Dahlman-Wright and Ingrid Dahlman

    Citation: Clinical Epigenetics 2015 7:93

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  31. Content type: Review

    The increased prevalence of obesity and related comorbidities is a major public health problem. While genetic factors undoubtedly play a role in determining individual susceptibility to weight gain and obesity...

    Authors: Susan J. van Dijk, Ross L. Tellam, Janna L. Morrison, Beverly S. Muhlhausler and Peter L. Molloy

    Citation: Clinical Epigenetics 2015 7:66

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