Press Release

Genomics
21.01.2019

Largest genetic study of osteoarthritis reveals possible new routes for treatment

Scientists have uncovered 52 new genetic changes linked to osteoarthritis, which doubles the number of genetic regions associated with the disabling condition. In the largest genetic study of osteoarthritis to date comprising about 480.000 participants, the researchers revealed new biological pathways linked to osteoarthritis, which could help identify starting points for new medicines. Researchers also highlighted opportunities for existing medicines to be evaluated in osteoarthritis. The study in ‘Nature Genetics’ was led by Prof. Dr. Eleftheria Zeggini who recently joined Helmholtz Zentrum München. Follow the link to see her explaining the paper in a nutshell: vimeo.com/312537973

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Osteoarthritis is a degenerative joint disease in which a person’s joints become damaged, stop moving freely and become painful. It is the most prevalent musculoskeletal disease and a leading cause of disability worldwide. There is no disease-modifying treatment for osteoarthritis. The disease is managed with pain relief medications and often culminates in joint replacement surgery, which has variable outcomes.

In order to uncover the mechanisms behind this disease and find new treatment options, scientists at the Wellcome Sanger Institute, GSK and their collaborators analyzed the whole genomes of over 77,000 people with osteoarthritis and over 370,000 healthy people. The data came from the arcOGEN study* and the UK Biobank resource. The team studied many different types of osteoarthritis, including in knee and hip joints.

Professor Eleftheria Zeggini, previously from the Wellcome Sanger Institute and now Director of the newly founded Institute for Translational Genomics at Helmholtz Zentrum München, said: „Osteoarthritis is a very common, disabling disease with no cure. We have conducted the largest study of osteoarthritis to date, and found over 50 new genetic changes that increase the risk of developing osteoarthritis. This is a major step forward in developing treatments to help the millions of people suffering from the disease.”

In order to discover which genes cause osteoarthritis, the team incorporated additional functional genomic data and analyzed gene activity by measuring gene expression down to the protein level. The team integrated genetic and proteomic data on tissue taken from patients undergoing joint replacement surgery.

By incorporating many different data sets, scientists were able to identify which genes were likely to be causal for osteoarthritis. Ten of the genes were highlighted as targets of existing drugs, which are either in clinical development or approved for use against osteoarthritis and other diseases.** The authors suggest that the ten drugs highlighted would be good candidates for testing in osteoarthritis.

Dr. Stephen Simpson, Director of Research at Versus Arthritis***, who supported the arcOGEN study, said: “Osteoarthritis affects over 8.5 million people across the UK. We know that the condition impacts people in different ways, meaning the treatment that works for one person doesn’t always work for someone else. This study represents a hugely important milestone towards understanding the complexity of osteoarthritis and finding new treatments and we are delighted that our support for the arcOGEN study has helped deliver this. In the long term, the research progresses us significantly on the journey to ending the pain, isolation and fatigue of those living with arthritis.”

 

Further Information

* arcOGEN was a study involving a UK-wide consortium funded by Arthritis Research UK. Its aim was to identify the genetic determinants of osteoarthritis (OA), the commonest form of arthritis, by carrying out a large-scale genome-wide association scan.

** These include the drugs INVOSSA, which is registered for knee osteoarthritis, and LCL-161, a drug in clinical development for the treatment of breast cancer, leukaemia and myeloma.

*** Versus Arthritis came to life in September 2018 as a result of the merger of two of UK’s largest arthritis charities – Arthritis Research UK and Arthritis Care. Find out more at www.versusarthritis.org    

Original Publication:
Tachmazidou, I. et al. (2018): Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank. Nature Genetics, DOI: 10.1038/s41588-018-0327-1

Background:
The Wellcome Sanger Institute is one of the world's leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease. To celebrate its 25th year in 2018, the Institute is sequencing 25 new genomes of species in the UK. Find out more at

GSK is a science-led global healthcare company with a special purpose: to help people do more, feel better, live longer. For further information please visit www.gsk.com

As German Research Center for Environmental Health, Helmholtz Zentrum München pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes mellitus, allergies and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München has about 2,300 staff members and is headquartered in Neuherberg in the north of Munich. Helmholtz Zentrum München is a member of the Helmholtz Association, a community of 19 scientific-technical and medical-biological research centers with a total of about 37,000 staff members. 

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