Is proteomics the new genomics Why

Proteomics: Molecular patterns of complex diseases demonstrated

The Helmholtz Zentrum München has published the results of the largest genome-wide association study on proteomics to date. An international team of scientists shows in 'Nature Communications' 539 connections between protein levels and genetic variants. These associations overlap with risk genes for 42 complex diseases.

Network of the interaction of genome, proteome and diseases. Source: Nature Communications / CC BY 4.0

Genome-wide association studies (GWAS) offer the possibility of relating changes in the concentration of certain proteins or metabolic products to gene locations. By knowing about these genes, links to complex diseases can be made. Scientists take advantage of the fact that so far hundreds of associations of genetic variants with complex diseases have been shown. These relationships are immensely important as they help to uncover the underlying molecular mechanisms.

"At the world's largest proteomics GWAS to date, we and colleagues * examined blood samples from 1,000 participants in the KORA study **," reports Dr. Gabi Kastenmüller. She is acting director and head of the metabolomics group at the Institute for Bioinformatics and Systems Biology (IBIS) at the Helmholtz Zentrum München. The team determined a total of 1,100 proteins. Dr. Christian Gieger, Head of the Department of Molecular Epidemiology (AME) at the Helmholtz Zentrum München, adds: "We found 539 independent associations between protein levels and genetic variants." These overlap with risk gene variants for 42 complex diseases, such as cardiovascular diseases or Alzheimer's disease. Illness.

"Our results provide new insights into the pathomechanisms that are influenced by a wide variety of complex diseases and can serve as a basis for the development of new strategies for the prediction and prevention of these diseases," adds Gieger. The team is now planning to investigate the exact mechanisms behind new gene-protein relationships.

additional Information

* Participants at Helmholtz Zentrum München were: the Department of Molecular Epidemiology (AME), the Institute for Epidemiology 2 (EPI2), the Institute for Bioinformatics and Systems Biology (IBIS) and the Institute for Genetic Epidemiology (IGE). External partners were the German Center for Diabetes Research (DZD), the German Center for Cardiovascular Research (DZHK), Weill Cornell Medicine, Qatar and Doha, Qatar.

** KORA study: The Cooperative Health Research in the Augsburg Region (KORA) has been investigating the health of thousands of citizens in the Augsburg area for 30 years. The aim is to understand the effects of environmental factors, behavior and genes. The main topics of the KORA studies are questions about the development and course of chronic diseases, in particular heart attacks and diabetes mellitus. For this purpose, risk factors from the area of ​​health behavior (including smoking, diet, exercise), environmental factors (including air pollution, noise) and genetics are researched. From the perspective of health services research, questions of the uptake and costs of health care are examined.

Original publication:
Karsten Suhre et al. (2017): Connecting genetic risk to disease endpoints through the human blood plasma proteome, Nature Communications, DOI: 10.1038 / ncomms14357

As the German Research Center for Health and Environment, the Helmholtz Zentrum München pursues the goal of developing personalized medicine for the diagnosis, therapy and prevention of widespread diseases such as diabetes mellitus and lung diseases. To do this, it examines the interaction between genetics, environmental factors and lifestyle. The headquarters of the center is in Neuherberg in the north of Munich. The Helmholtz Zentrum München employs around 2,300 people and is a member of the Helmholtz Association, which includes 18 scientific-technical and medical-biological research centers with around 37,000 employees.

The focus of the Institute for Bioinformatics and Systems Biology (IBIS) is the analysis and interpretation of large, high-dimensional biological data sets in order to extract information on the molecular basis of complex diseases. In this context, genetic variants, expression patterns as well as protein and metabolite profiles and their relationships are systematically investigated. IBIS develops new bioinformatic and systems biological methods and resources that enable the modeling and visualization of high throughput data and the results obtained from them.

The Department of Molecular Epidemiology (AME) analyzes population-based cohorts and case studies for specific diseases using genomics, epigenomics, transcriptomics, proteomics, metabolomics and functional analyzes. The aim is to elucidate the molecular mechanisms of complex diseases such as type 2 diabetes or obesity. The department runs the epidemiology biosample bank and takes on sample management and storage for national and international projects.

Technical contact:

Dr. Christian Gieger
Helmholtz Centre Munich -
German Research Center for Health and Environment (GmbH)
Department of Molecular Epidemiology
Ingolstädter Landstr. 1
85764 Neuherberg
Tel. +49 89 3187 4106
e-mail