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 over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
SEP 01, 2020
Genetics & Genomics
Women's Genes May Help Protect Against the Worst Alzheimer's Cases
SEP 01, 2020
Women's Genes May Help Protect Against the Worst Alzheimer's Cases
Women tend to get Alzheimer's more than men, but the female genome gives them some protection from the worst aspects of ...
SEP 04, 2020
Genetics & Genomics
Expanding Our View of How Gene Variants Affect Blood Cells
SEP 04, 2020
Expanding Our View of How Gene Variants Affect Blood Cells
Small changes in the sequences of some genes affect the characteristics of blood cells, and may contribute to an individ ...
SEP 11, 2020
Genetics & Genomics
A Better Understanding of Telomere Length Throughout the Body
SEP 11, 2020
A Better Understanding of Telomere Length Throughout the Body
Telomeres cap the ends of chromosomes. They work to protect the chromosomes from degradation, and are known to get short ...
SEP 28, 2020
Genetics & Genomics
Why Some Young, Healthy People Get Severe COVID-19
SEP 28, 2020
Why Some Young, Healthy People Get Severe COVID-19
Since the start of the pandemic, scientists have been trying to find out why some people get such severe illness from SA ...
OCT 03, 2020
Cell & Molecular Biology
Growing an Organism From One Cell
OCT 03, 2020
Growing an Organism From One Cell
Scientists have used model organisms to view the first few hours of development in various organisms. A single cell is f ...
OCT 19, 2020
Cancer
Using qPCR to Diagnose Common Cancer Mutations in Lung Cancer
OCT 19, 2020
Using qPCR to Diagnose Common Cancer Mutations in Lung Cancer
Cancer is a disease characterized by DNA mutations. These mutations, while sometimes small, can cause havoc in a cell&rs ...
Loading Comments...