Press Release

Diabetes Research
14.07.2016

Genetics of type 2 diabetes revealed in unprecedented detail

The largest study of its kind into type 2 diabetes has produced the most detailed picture to date of the genetics underlying the condition. Among others, the work was conducted by researchers of the Helmholtz Zentrum München and the German Center for Diabetes Research (DZD). The findings, published in Nature, identify several potential targets for new diabetes treatments, but also reveal the complexity of the disease that needs to be addressed by efforts to develop more personalised strategies for treatment and prevention.

Genetics

Source: Fotolia / Leigh Prather

More than 300 scientists from 22 countries collaborated on the study, which analysed the genomes of more than 120,000 people with ancestral origins in Europe, South and East Asia, the Americas and Africa. Among the study team there were scientists from the Institute of Human Genetics, the Institute of Genetic Epidemiology, the Institute of Epidemiology II and the Research Unit of Molecular Epidemiology.

Type 2 diabetes is a growing threat to global health, with one in 10 people either having the disease or predicted to develop it during their lifetime. For any given individual, the risk of developing this form of diabetes is influenced by the pattern of genetic changes inherited from their parents, and environmental factors such as levels of exercise and choice of diet. A better understanding of precisely how these factors contribute to type 2 diabetes will enable researchers to develop new ways of treating and preventing this condition, as well as offering the prospect for targeting those treatments towards those most likely to benefit, and those least likely to suffer harm.

Previous studies have identified over 80 areas in the genome that are associated with type 2 diabetes. However, these studies focused on the role of common DNA differences that appear frequently in the population, and they generally stopped short of identifying exactly which DNA sequence changes, or which specific genes, were responsible for this risk. The new study explored the impact of changes in the DNA sequence on diabetes risk at a more detailed level. Some individuals had their entire genome sequenced while for others, sequencing was restricted to the part of the genome that codes directly for proteins (the exome).

Scientists compared the genetic variation between individuals who had type 2 diabetes and those who did not. This allowed them to test the contribution made by rare, ‘private’ DNA differences, as well as those that are common and shared between people. They found that most of the genetic risk of type 2 diabetes can be attributed to common, shared differences in the genetic code, each of which contributes a small amount to an individual’s risk of disease. Some researchers had thought that genetic risk would instead be dominated by rare changes, unique to an individual and their relatives.

This finding means that future efforts to develop a personalised approach to treatment and prevention will need to be tailored toward an individual’s broader genetic profile, non-genetic risk factors and clinical features. Researchers also identified over a dozen type 2 diabetes risk genes where the DNA sequence changes altered the composition of the proteins they encode. This implicates those specific genes and proteins directly in the development of type 2 diabetes.*

Further Information

Background:
* One such variant – in the TM6SF2 gene - has been shown to alter the amount of fat stored in the liver, which in turn results in an increase in the risk of type 2 diabetes. Discoveries such as these point to new opportunities for developing drugs that might interrupt the development of the disease.

Original Publication:
Fuchsberger, C. et al. (2016): The genetic architecture of type 2 diabetes, Nature, DOI: 10.1038/nature18642

The Helmholtz Zentrum München, the German Research Center for Environmental Health, pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München is headquartered in Neuherberg in the north of Munich and has about 2,300 staff members. It is a member of the Helmholtz Association, a community of 18 scientific-technical and medical-biological research centers with a total of about 37,000 staff members. 

The Institute of Human Genetics (IHG) at the Helmholtz Zentrum München and the Technical University of Munich: The Institute is concerned with identifying genes associated with disease and characterizing their functions. The main aim of the research projects is to develop disease-related genetic variation in humans and mice as well as to develop chromosome analysis techniques and new methods for dealing with specific issues in the sphere of pre- and post-natal diagnostics and tumor cytogenetics. 

Research at the Institute of Genetic Epidemiology (IGE) focuses on planning, realization and analysis of projects regarding the identification of genetic factors responsible for complex traits. This involves application, further development and implementation of a variety of statistical methods to address specific aspects such as rare genetic variants, mitochondrial DNA, gene-gene and gene-environment interactions, family studies, and the handling of population structures. The elucidation of disease-relevant genetic factors as well as their inclusion into models of disease risk provides the basis of individualized approaches to treatment or prevention.

The Institute of Epidemiology II (EPI II) focuses on the assessment of environmental and lifestyle risk factors which jointly affect major chronic diseases such as diabetes, heart disease and mental health. Research builds on the unique resources of the KORA cohort, the KORA myocardial infarction registry, and the KORA aerosol measurement station. Aging-related phenotypes have been added to the KORA research portfolio within the frame of the Research Consortium KORA-Age. The institute’s contributions are specifically relevant for the population as modifiable personal risk factors are being researched that could be influenced by the individual or by improving legislation for the protection of public health. 

The Research Unit of Molecular Epidemiology (AME) analyses population-based cohorts and case studies for specific diseases, using genomics, epigenomics, transcriptomics, proteomics, metabolomics and functional analyses. The aim of this research unit is to decipher the molecular mechanisms of complex diseases like type 2 diabetes or obesity. The unit administers the biological specimen repository of the Department of Epidemiology and stores the samples for national and international projects.

The German Center for Diabetes Research (DZD) is a national association that brings together experts in the field of diabetes research and combines basic research, translational research, epidemiology and clinical applications. The aim is to develop novel strategies for personalized prevention and treatment of diabetes. Members are Helmholtz Zentrum München – German Research Center for Environmental Health, the German Diabetes Center in Düsseldorf, the German Institute of Human Nutrition in Potsdam-Rehbrücke, the Paul Langerhans Institute Dresden of the Helmholtz Zentrum München at the University Medical Center Carl Gustav Carus of the TU Dresden and the Institute for Diabetes Research and Metabolic Diseases of the Helmholtz Zentrum München at the Eberhard-Karls-University of Tuebingen together with associated partners at the Universities in Heidelberg, Cologne, Leipzig, Lübeck and Munich.

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