MAR 21, 2018 12:00 PM PDT

New Osteoarthritis Genes Point to Therapeutic Targets

WRITTEN BY: Carmen Leitch

A massive study assessing thousands of people in the UK has revealed nine new genes that are related to osteoarthritis. The work may help create new therapeutics for the painful disorder, which damages the joints of millions of people all over the world. The only treatment for this degenerative disease manages the symptoms through pain relievers or joint replacement surgery. It is the most common type of musculoskeletal disease, and a leading cause of disability; it can also be a very different disease from person to person. 

Stage 4 trapeziometacarpal osteoarthritis, with major subluxation of the joint./ Credit: Wikimedia Commons/Mikael Häggström

"Osteoarthritis is challenging to study because the disease can vary among people, and also between the different joints affected, for example, knee, hip, hand, and spine. Using data from the UK Biobank resource, we have undertaken the largest genetic study of osteoarthritis to date and uncovered nine new genes associated with the disease,” said Professor Eleftheria Zeggini, from the Wellcome Sanger Institute.

Zegginin is senior author of the new study, reported in Nature Genetics; the scientists looked at 30,727 people with osteoarthritis and 300,000 healthy people. The researchers found the new genes, and then followed up on their work with a study of patient samples.

They looked for gene activity in cells taken from the cartilage of healthy people, as well as cartilage from patients who needed a joint replacement. Of the new genes they identified in the first portion of the study, five of them had very different expression levels in the diseased samples compared to healthy ones. These five genes can now be investigated as potential targets for treatment. 

"These results are an important step towards understanding the genetic causes of osteoarthritis and take us closer to uncovering the mechanism behind the disease. Once we know that, it opens the door to developing new therapies for this debilitating disease,” said co-first author Eleni Zengini of the University of Sheffield and Dromokaiteio Psychiatric Hospital in Athens.

The researchers also used their data to look for links between osteoarthritis and several other conditions. Their inquiry utilized causal inference analysis, a statistical technique that helps show causal relationships. 

“Using genetic data, we have shown that type 2 diabetes, and increased blood lipid levels do not appear to be on the causal path to osteoarthritis. We also reconfirmed that obesity is on the causal path to osteoarthritis,” revealed co-first author Dr. Konstantinos Hatzikotoulas of the Wellcome Sanger Institute.

"The discovery of these genes is positive news for the 8.5 million people in the UK living with osteoarthritis,” noted Dr. Natalie Carter, Head of research liaison & evaluation at Arthritis Research UK. “People living with this debilitating condition currently have limited treatment options. Meanwhile, they can struggle to do the day-to-day things most of us take for granted, like going to work or getting dressed independently. By revealing how these genes contribute to osteoarthritis, this research could open the door for new treatments to help millions of people live the pain-free life they deserve."

The video above from Mayo Clinic has some information about osteoarthritis as well as how to get some relief from the disease, and how to prevent getting it.

Sources: AAAS/Eurekalert! Via Wellcome Sanger Institute, Nature Genetics

About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
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