Press release

Genetics help explain neuropathic pain susceptibility

Published on 13 January 2022

Researchers from the University of Dundee have discovered a genetic link to neuropathic pain that helps explain why some individuals develop it while others from high-risk groups do not.

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Researchers from the University of Dundee have discovered a genetic link to neuropathic pain that helps explain why some individuals develop it while others from high-risk groups do not.

Neuropathic pain arises because of a lesion or disease affecting the nervous system and is experienced by around 7-10% of the general population. Diabetes, surgery, trauma, shingles, HIV, nerve compression and entrapment, and chemotherapy are common causes of neuropathic pain but not every patient with an underlying condition develops it.

The condition can lead to considerable impairment of physical and mental health, and many patients do not receive satisfactory pain relief with current drug treatments. The findings provide a better understanding of genetic predisposition to this condition, and this may inform the development of new treatment strategies.

The researchers, led by Professor Blair Smith from Dundee’s School of Medicine, carried out a meta-analysis of genome-wide association studies, and identified two genetic variants associated with NP susceptibility.

“We know a lot about the risk factors for neuropathic pain but not everybody with diabetes or nerve damage develops neuropathic pain,” explained first author Dr Abirami Veluchamy. “Increasingly, evidence has suggested that genetic factors make a significant contribution to the development of neuropathic pain so we used these genome wide association studies to find variants that are more prevalent in those who experience it.

“Interestingly, the risk variants we identified are active in the spinal cord and brain tissues, so this would make sense in this context. These genes are statistically highly associated with neuropathic pain and have biological plausibility, both because of what they do and because of the tissues in the body where they are active.

“One is actually quite a rare gene but when present it makes a person 1½ times more likely to develop neuropathic pain. This variant gives us clues as to the biological mechanisms behind the development of neuropathic pain.

“It is likely that prevalence will increase because of the increasing cases of diseases such as diabetes and cancer that are linked to neuropathic pain, so this is a condition that will be of increasing importance to people in years to come.”

The genetic association study included a meta-analysis of 3-genome wide association studies, with 4512 individuals with neuropathic pain and 428,489 without. This is believed to be the largest dataset of its kind studied for this purpose to date.

Dr Veluchamy said that, while the findings need to be validated in further and more diverse studies and that the development of drugs remains some way off, they could potentially lead to further discoveries relating to the development of neuropathic pain.

“It is important to note that the individuals studied were all of European descent, so these findings need to be validated in other populations and there are likely to be a lot of other genetic factors yet to be identified,” she continued. “We must also continue to look at the non-genetic factors to examine how we can use these to treat or prevent neuropathic pain, but we believe these findings will be important for researchers.

“These genes work by turning on certain biological pathways in the body. Once we identify the genes involved in neuropathic pain, we can begin to look at the mechanisms behind the development of neuropathic pain.

“We might be able to look specifically at the biological pathways that this gene affects so we can target further research into related mechanisms more accurately. We are a long way off from genetic testing and treatments but it is possible that knowledge of these and other variants might provide scientists with a starting point for developing new drugs in future.”

The research is published in JAMA Network Open and was carried out as part of DOLORisk consortium, funded by the European Union’s Horizon 2020 research.


Grant Hill

Senior Public Affairs Officer

+44 (0)1382 384768
Story category Research