Nav: Home

Genetic study reveals possible new routes to treating osteoarthritis

January 21, 2019

In the largest genetic study of osteoarthritis to date, scientists have uncovered 52 new genetic changes linked to the disease, which doubles the number of genetic regions associated with the disabling condition.

Scientists at the Wellcome Sanger Institute, GSK and their collaborators analysed the genomes of over 77,000 people with osteoarthritis. Their findings, published today (21 January) in Nature Genetics, revealed new genes and 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.

Almost ten million people in the UK suffer from osteoarthritis, a degenerative joint disease in which a person's joints become damaged, stop moving freely and become painful. 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.

Osteoarthritis is the most prevalent musculoskeletal disease and a leading cause of disability worldwide. In the UK, the disease indirectly costs the economy £14.8 billion each year*.

To uncover the genetics underpinning osteoarthritis, scientists from the Sanger Institute, GSK and their collaborators analysed the whole genomes of over 77,000 people with osteoarthritis and over 370,000 healthy people using patient data from the UK Biobank resource and the arcOGEN study**. 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 based at Helmholtz Zentrum München in Germany, 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 analysed 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. 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. The team 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."
-end-
Notes to Editors:

*Hiligsmann, M. et al. Health economics in the field of osteoarthritis: an expert's consensus paper from the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis (ESCEO). Semin Arthritis Rheum 43, 303-13 (2013).

**UK Biobank is a national and international health resource with unparalleled research opportunities, open to all bona fide health researchers. https://www.ukbiobank.ac.uk/

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.

Publication:

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

Funding:

This study was supported by Wellcome (206194).

Selected websites:

GSK

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

About Versus Arthritis

We are a new charity here to demand and deliver better with and for people with arthritis. We are a movement of volunteers, healthcare professionals, researchers, family and friends doing everything we can to push back against arthritis. We invest in and deliver cutting edge research, provide quality services and advice, and campaign for arthritis to be a health priority, so the pain, fatigue and isolation of arthritis are no longer tolerated. 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 http://www.versusarthritis.org

The Wellcome Sanger Institute

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 http://www.sanger.ac.uk or follow @sangerinstitute

About Wellcome

Wellcome exists to improve health by helping great ideas to thrive. We support researchers, we take on big health challenges, we campaign for better science, and we help everyone get involved with science and health research. We are a politically and financially independent foundation.

Wellcome Trust Sanger Institute

Related Osteoarthritis Articles:

App helps reduce osteoarthritis pain
By performing a few simple physical exercises daily, and receiving information about their disease regularly, 500 osteoarthritis patients were able to on average halve their pain in 6 months -- and improve their physical function.
Osteoarthritis can increase your risk for social isolation
In a study published in the Journal of the American Geriatrics Society, researchers examined information from the European Project on OSteoArthritis (EPOSA) study.
High rates of opioid prescriptions for osteoarthritis
Opioids work against severe pain but the risks of side effects and addiction are high.
Disease burden in osteoarthritis is similar to rheumatoid arthritis
Osteoarthritis (OA) has traditionally been viewed as a highly prevalent but milder condition when compared with rheumatoid arthritis (RA), and some may believe that it is part of a normal aging process requiring acceptance, not treatment.
3D printing may help treat osteoarthritis
In a Journal of Orthopaedic Research study, scientists used 3D printing to repair bone in the joints of mini-pigs, an advance that may help to treat osteoarthritis in humans.
Finger joint enlargements may be linked to knee osteoarthritis
Heberden's nodes (HNs) are bony enlargements of the finger joints that are readily detectable in a routine physical exam and are considered hallmarks of osteoarthritis.
Hormone therapy may be best defense against knee osteoarthritis
There is an ongoing debate regarding the relationship between knee osteoarthritis and hormone therapy (HT), with small-scale studies providing mixed results.
Going from negative to positive in the treatment of osteoarthritis
A scientific team has designed a charged molecule that improved the delivery of osteoarthritis drugs to knee joint cartilage in rodent models of the debilitating joint disorder.
Antioxidant defender protects against osteoarthritis
A protein involved in multiple cellular processes called ANP32A protects cartilage in the joints against degradation by damaging oxidation, preventing the development and progression of osteoarthritis, according to a new study by Frederique Cornelis and colleagues.
Symptoms of osteoarthritis lessened with simple changes to the diet
One gram of fish oil a day could help reduce the pain of patients with osteoarthritis, a new study in Rheumatology reports.
More Osteoarthritis News and Osteoarthritis Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Our Relationship With Water
We need water to live. But with rising seas and so many lacking clean water – water is in crisis and so are we. This hour, TED speakers explore ideas around restoring our relationship with water. Guests on the show include legal scholar Kelsey Leonard, artist LaToya Ruby Frazier, and community organizer Colette Pichon Battle.
Now Playing: Science for the People

#568 Poker Face Psychology
Anyone who's seen pop culture depictions of poker might think statistics and math is the only way to get ahead. But no, there's psychology too. Author Maria Konnikova took her Ph.D. in psychology to the poker table, and turned out to be good. So good, she went pro in poker, and learned all about her own biases on the way. We're talking about her new book "The Biggest Bluff: How I Learned to Pay Attention, Master Myself, and Win".
Now Playing: Radiolab

Uncounted
First things first: our very own Latif Nasser has an exciting new show on Netflix. He talks to Jad about the hidden forces of the world that connect us all. Then, with an eye on the upcoming election, we take a look back: at two pieces from More Perfect Season 3 about Constitutional amendments that determine who gets to vote. Former Radiolab producer Julia Longoria takes us to Washington, D.C. The capital is at the heart of our democracy, but it's not a state, and it wasn't until the 23rd Amendment that its people got the right to vote for president. But that still left DC without full representation in Congress; D.C. sends a "non-voting delegate" to the House. Julia profiles that delegate, Congresswoman Eleanor Holmes Norton, and her unique approach to fighting for power in a virtually powerless role. Second, Radiolab producer Sarah Qari looks at a current fight to lower the US voting age to 16 that harkens back to the fight for the 26th Amendment in the 1960s. Eighteen-year-olds at the time argued that if they were old enough to be drafted to fight in the War, they were old enough to have a voice in our democracy. But what about today, when even younger Americans are finding themselves at the center of national political debates? Does it mean we should lower the voting age even further? This episode was reported and produced by Julia Longoria and Sarah Qari. Check out Latif Nasser's new Netflix show Connected here. Support Radiolab today at Radiolab.org/donate.