Twins help find genetic link to joint pain

The development of EU-funded gene sequencing tools have helped analyse data on twins that have promising implications for diagnosing chronic joint pain.

Scientists at the Department of Twin Research and Genetic Epidemiology at King’s College, London (KCL) found a link between changes in marks on the outside of DNA and chronic widespread joint pain. This is one of the main symptoms of fibromyalgia, a chronic condition that causes fatigue and widespread pain in muscles and bones but whose causes are poorly understood.

With heritability known to play a role, the scientists scrolled through data from 400 twin volunteers from the 13 000 Twins UK registry, which is known to be representative and comparable to the UK population in behaviour lifestyle factors and susceptibility to disease. Using twin pairs where one twin has chronic widespread pain the scientists compared the DNA with that of the healthy twin to establish differences and identify DNA biomarkers associated with the condition.

According to their paper published in the open access journal PLOS ONE on 10 November 2016, the researchers were able to identify three genes where the patterns of marks on DNA (DNA methylation) differed between those with and without chronic widespread pain.

Dr Frances Williams, one of the authors of the study from the Department of Twin Research and Genetic Epidemiology, KCL, commented: ''Fibromyalgia is influenced by genetic factors but there are many complicated steps between gene and disease. Identifying measurable epigenetic links is a major step forward. In addition, the results will inform future research in fibromyalgia as well as other chronic pain syndromes, such as irritable bowel syndrome.''

The genetic markers they were able to identify could help to eventually develop a blood test to diagnose the debilitating disease. Currently no diagnostic tests are available for fibromyalgia, which cannot be detected using scans or x-rays.

With only medical limited treatment for the condition at present, fibromyalgia ‘is not only a huge burden for sufferers, but is also difficult to treat and is costly for society overall,’ the researchers say in their paper. Around 12 % of the UK population is afflicted with chronic widespread musculoskeletal pain.

Stephen Simpson, director of research and programmes at Arthritis Research UK also commented on the research: ''There are millions of people in the UK who are living with the pain of fibromyalgia. This really exciting research is an important step forward in our understanding how epigenetic differences between individuals can influence our likelihood of developing fibromyalgia and chronic widespread musculoskeletal pain.''

The RADIANT project officially ended in November 2015, but its applications have helped speed up and transform genomic studies, such as the research into fibromyalgia. The project received just over EUR 3.6 million in EU funding.

For more information, please see:
CORDIS project page

published: 2016-12-01
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