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Genome-Wide DNA and Histone Modification Studies in Metabolic Disease

  • Charlotte Ling
  • Tina Rönn
Publishing year: 2015-10-28
Language: English
Pages: 255-270
Publication/Series: Epigenomics in Health and Disease
Document type: Book chapter
Publisher: Elsevier Inc.

Abstract english

The last decade has witnessed a revolution in genetic technology, where genome-wide analyses, covering the majority of genetic variation, were thought to explain disease-causing mechanisms in common metabolic disorders. However, these genetic data only explain a modest proportion of the estimated heritability of type 2 diabetes and obesity and hence suggest a potential role for epigenetic variation in the etiology of metabolic disease. Indeed, recent genome-wide epigenetic studies have identified altered DNA methylation patterns in human pancreatic islets, adipose tissue, skeletal muscle, and blood from subjects with type 2 diabetes compared with normal subjects. Also, measures of obesity, such as increased body mass index (BMI), have been associated with epigenetic modifications in humans. It should also be noted that environmental risk factors for metabolic disease, for example, energy-rich diets, physical inactivity, and aging have been found to alter the epigenetic pattern genome-wide and in candidate genes for type 2 diabetes and obesity in human tissues. Additionally, interactions between genetic and epigenetic variations seem to contribute to the risk for metabolic disease. Together, genome-wide epigenetic studies highlight the importance of altered DNA methylation and histone modifications in the pathogenesis of metabolic disease. This chapter aims at summarizing current knowledge in the field of metabolic disease and genome-wide epigenetic analyses in humans.


  • Medical Genetics
  • Endocrinology and Diabetes
  • Adipose tissue
  • DNA methylation
  • Epigenetics
  • Genome-wide
  • Histone modifications
  • Human
  • Metabolic disease
  • Obesity
  • Pancreatic islets
  • Skeletal muscle
  • Type 2 diabetes


  • Epigenetics and Diabetes
  • ISBN: 9780128001400
Tina Rönn
E-mail: tina [dot] ronn [at] med [dot] lu [dot] se

Assistant researcher

Epigenetics and Diabetes

+46 40 39 12 18

CRC 91-12-021


Lund University Diabetes Centre, CRC, SUS Malmö, Entrance 72, House 91:12. SE-205 02 Malmö. Telephone: +46 40 39 10 00