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Epigenetic Methods and Twin Studies

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Book cover Epigenetics in Allergy and Autoimmunity

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1253))

Abstract

Genomic predisposition fails to fully explain the onset of complex diseases, which is well illustrated by the largely incomplete concordance among monozygotic twins. Epigenetic mechanisms, including DNA methylation, chromatin remodeling, and non-coding RNA, are the link between environmental stimuli and disease onset on a permissive genetic background in autoimmune and chronic inflammatory diseases. Autoimmune diseases now include almost 100 conditions and are estimated to cumulatively affect up to 5% of the world population with a healthcare expenditure superior to cancer worldwide. Many advances in medicine have been made to treat these conditions but there are still gaps, and an innovative and efficient therapy is needed. Systemic autoimmune diseases include rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Sjogren syndrome, polymyositis, and dermatomyositis. Monozygotic twins discordant for any disease offer an ideal study design as they are matched for many factors, including genetic variation and this is a real advantage for epigenetics study. We will herein discuss the available data in the epigenetic differences leading to disease discordance in MZ twins for systemic lupus erythematosus, rheumatoid arthritis, and systemic sclerosis.

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Acknowledgements

This work was supported by the Italian Ministry of Health grant PGR00771 for the Italy–China collaboration.

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Authors and Affiliations

  1. Humanitas Clinical and Research Center—IRCCS, via Manzoni 56, 20089, Rozzano, Milan, Italy

    Angela Ceribelli & Carlo Selmi

  2. BIOMETRA department, University of Milan, Milan, Italy

    Carlo Selmi

Authors
  1. Angela Ceribelli
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  2. Carlo Selmi
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Correspondence to Carlo Selmi .

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Editors and Affiliations

  1. Division of Pediatric Immunology and Allergy, Joe DiMaggio Children’s Hospital, Hollywood, FL, USA

    Christopher Chang

  2. Department of Dermatology, Hunan Key Laboratory of Medical Epigenomics, Second Xiangya Hospital, Central South University, Changsha, Hunan, China

    Qianjin Lu

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Ceribelli, A., Selmi, C. (2020). Epigenetic Methods and Twin Studies. In: Chang, C., Lu, Q. (eds) Epigenetics in Allergy and Autoimmunity. Advances in Experimental Medicine and Biology, vol 1253. Springer, Singapore. https://doi.org/10.1007/978-981-15-3449-2_3

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