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Alison-Michelle Naujack Institute for Human Genetics, Department of Epigenetics & Metabolism, Center of Brain Behavior & Metabolism, University of Lübeck, Lübeck, Germany

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Christin Krause Institute for Human Genetics, Department of Epigenetics & Metabolism, Center of Brain Behavior & Metabolism, University of Lübeck, Lübeck, Germany

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Jan H Britsemmer Institute for Human Genetics, Department of Epigenetics & Metabolism, Center of Brain Behavior & Metabolism, University of Lübeck, Lübeck, Germany

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Natalie Taege Institute for Human Genetics, Department of Epigenetics & Metabolism, Center of Brain Behavior & Metabolism, University of Lübeck, Lübeck, Germany

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Jens Mittag Institute for Experimental Endocrinology, Center of Brain Behavior & Metabolism, University of Lübeck, Lübeck, Germany

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Henriette Kirchner Institute for Human Genetics, Department of Epigenetics & Metabolism, Center of Brain Behavior & Metabolism, University of Lübeck, Lübeck, Germany

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of these genes during liver disease. Epigenetic mechanisms dynamically modify gene expression and protein synthesis through histone modification, DNA and RNA methylation, and non-coding RNAs. Cytosines are commonly methylated on their fifth carbon

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João Anselmo Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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Carolina M. Chaves Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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not require direct interaction between TR and DNA may also play an important role. In fact, the expression of TH target genes can be modulated via epigenetic mechanisms, including histone modification, DNA methylation, and posttranscriptional silencing

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Michele Marino M Marino, Clinical and Experimental Medicine, University of Pisa, Pisa, 56124, Italy

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Giovanna Rotondo Dottore G Rotondo Dottore, University of Pisa, Pisa, Italy

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Francesca Menconi F Menconi, Pisa University Hospital, Pisa, Italy

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Simone Comi S Comi, Pisa, Italy

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Giada Cosentino G Cosentino, Pisa, Italy

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Roberto Rocchi R Rocchi, Pisa University Hospital, Pisa, Italy

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Francesco Latrofa F Latrofa, University of Pisa Department of Clinical and Experimental Medicine, Pisa, 56126, Italy

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Michele Figus M Figus, Pisa, Italy

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Ferruccio Santini F Santini, University of Pisa, Pisa, 56126, Italy

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Objectives

The pathogenesis of Graves’ orbitopathy (GO) remains to be fully elucidated. Here we reviewed the role of genetics and epigenetics.

Design

We conducted a PubMed search with the following key words: Graves’ orbitopathy, thyroid eye disease; or Graves’ ophthalmopathy; or thyroid-associated ophthalmopathy; and: genetic, or epigenetic, or gene expression, or gene mutation, or gene variant, or gene polymorphism, or DNA methylation, or DNA acetylation. Articles in which whole DNA and/or RNA sequencing, proteome and methylome analysis were performed were chosen.

Results

The different prevalence of GO in the two sexes as well as racial differences suggest that genetics play a role in GO pathogenesis. In addition, the long-lasting phenotype of GO and of patient-derived orbital fibroblasts suggest a genetic or epigenetic mechanism. Although no genes have been found to confer a specific risk for GO, differential gene expression has been reported in orbital fibroblasts from GO patients vs control fibroblasts, suggesting that an epigenetic mechanism may be involved. In this regard, a different degree of DNA methylation, which affects gene expression, has been found between GO and control fibroblasts, which was confirmed by whole methylome analysis. Histone acetylation and deacetylation, which also affect gene expression, remain to be investigated.

Conclusions

Although pathogenetic gene variants have not been reported, epigenetic mechanisms elicited by an initial autoimmune insult seem to be needed for differential gene expression to occur and, thus, for GO to develop and persist over time.

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Barbara A. Demeneix CNRS/UMR7221, Muséum National d’Histoire Naturelle/Université Paris-Sorbonne, Paris, France

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suggested that the increases in neurocognitive and behavioural disabilities, including ASDs and ADHDs, could implicate environmental factors often acting through epigenetic mechanisms (see next section). Moreover, the link to TH-disrupting chemical exposure

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Suresh Kumar Bunker Department of Biotechnology, Utkal University, Bhubaneswar, India

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Jagneshwar Dandapat Department of Biotechnology, Utkal University, Bhubaneswar, India

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Gagan B.N. Chainy Department of Biotechnology, Utkal University, Bhubaneswar, India

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Sunil Kumar Sahoo Department of Biotechnology, Utkal University, Bhubaneswar, India

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Prabhat Kumar Nayak Department of Biotechnology, Utkal University, Bhubaneswar, India

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-thyroid drugs such as methimazole or PTU during the foetal and neonatal period of vertebrates results in impairment of hepatic gene expression in adulthood [ 3 , 4 ]. DNA methylation, an epigenetic phenomenon, has been recognized as an interface between

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Jorge Alberto Tapia-Martínez Laboratorio de Metabolismo I, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México
Laboratorio 6, Departamento de Farmacobiología, Centro de Investigación y de Estudios Avanzados-Instituto Politécnico Nacional, Delegación Tlalpan, Ciudad de México, México

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Margarita Franco-Colín Laboratorio de Metabolismo I, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México

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Vanessa Blas-Valdivia Laboratorio de Neurobiología, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México

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Edgar Cano-Europa Laboratorio de Metabolismo I, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México

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the fetal physiological systems program the metabolism ( 4 ), and the extrauterine conditions are responsible for modulating the expression of the epigenetic changes ( 5 , 6 ). Some authors speculate that congenital hypothyroidism has an association

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Benjamin Chevalier Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital, Lille, France
University of Lille, Lille, France

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Oriane Karleskind Department of Pathology, Lille University Hospital, Lille, France

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Arnaud Jannin Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital, Lille, France
University of Lille, Lille, France

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Olivier Farchi Department of Biochemistry and Molecular Biology, Hormonology Metabolism Nutrition Oncology, Lille University Hospital, Lille, France

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Catherine Vermaut Department of Biochemistry and Molecular Biology, Hormonology Metabolism Nutrition Oncology, Lille University Hospital, Lille, France

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Alexandre Escande Academic Department of Radiation Oncology, Oscar Lambret Comprehensive Cancer Center, Lille, France
CRIStAL UMR CNRS 9189, University of Lille, Villeneuve-d’Ascq, France

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Clio Baillet Department of Nuclear Medicine, Lille University Hospital, Lille, France

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Stéphanie Espiard Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital, Lille, France
University of Lille, Lille, France
Institut National de la Santé et de la Recherche Médicale (INSERM), European Genomic Institute for Diabetes (EGID), CHU Lille, Lille, France

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Marie-Christine Vantyghem Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital, Lille, France
University of Lille, Lille, France
Institut National de la Santé et de la Recherche Médicale (INSERM), European Genomic Institute for Diabetes (EGID), CHU Lille, Lille, France

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Bruno Carnaille University of Lille, Lille, France

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Emmanuelle Leteurtre University of Lille, Lille, France
Department of Pathology, Lille University Hospital, Lille, France
University of Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, Lille, France

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Christine Do Cao Department of Endocrinology, Diabetology and Metabolism, Lille University Hospital, Lille, France

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instability (MSI) phenotype linked to PMS2 protein expression loss. The expression of MLH1 was more questionable, with nuclear expression by tumor cells judged as weak and partial, a finding observed in patients presenting with MLH1 epigenetic inactivation ( 9

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Joanna Bogusławska Centre of Postgraduate Medical Education, Department of Biochemistry and Molecular Biology, Warsaw, Poland

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Marlena Godlewska Centre of Postgraduate Medical Education, Department of Biochemistry and Molecular Biology, Warsaw, Poland

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Ewa Gajda Centre of Postgraduate Medical Education, Department of Biochemistry and Molecular Biology, Warsaw, Poland

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Agnieszka Piekiełko-Witkowska Centre of Postgraduate Medical Education, Department of Biochemistry and Molecular Biology, Warsaw, Poland

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factors (e.g. viral infection), epigenetic/genetic predispositions, and microbiome of which dysfunction contributes to the loss of immune tolerance, activation of autoreactive lymphocytes, and inflammation, leading to the damage of thyrocytes and clinical

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Anthony P. Weetman Department of Human Metabolism, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, UK

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‘existential’ i.e. the consequence of humans living life to the full. One way in which some environmental and many existential factors may operate is through epigenetic modifications, such as changes in DNA methylation and histone modification, at the tissue

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Mohammad-Reza Mahmoudian-sani Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
Department of Genetics and Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran

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Ameneh Mehri-Ghahfarrokhi Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

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Majid Asadi-Samani Student Research Committee, Shahrekord University of Medical Sciences, Shahrekord, Iran

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Gholam-Reza Mobini Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

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regulate 30% of genes encoding proteins. These small regulatory molecules were first identified in 1993. Most of them are located in chromosome fragile sites and are prone to chromosomal removal, movement, and epigenetic changes in various diseases

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