NSU Scientists and Foreign Colleagues Identify New Genetic Variants Associated with Chronic Back Pain

Back pain is one of the most common reasons for seeking medical attention in developed countries. Surprisingly, little is known about the biological root of this symptom.
A new study, led by Pradeep Suri, University of Washington (USA) and Professor Francis Williams, Department of Twin Research and Genetic Epidemiology at King’s College London (United Kingdom), together with scientists from Novosibirsk State University, identified three new genetic variants associated with chronic pain back. The study that was published in the “PLOS Genetics” journal links the risk of back pain with variants of the genes that control the development of the musculoskeletal system.

A team of scientists conducted a genome-wide association study with 158,000 adults of European descent. 29,000 of these subjects suffered from chronic back pain. The research was designed to look for variants of the genes associated with this type of pain. The strongest relationship was found with a variant in the SOX5 gene, which is a transcription factor involved in almost all phases of embryonic development. It was demonstrated earlier that inactivating SOX5 leads to defects in the formation of cartilage and the skeletal system in mice. This confirms the hypothesis that this variant may contribute to chronic back pain through its influence on skeletel development. The association of the SOX5 variant with chronic back pain was confirmed in another group of more than 280,000 people that included over 50,000 subjects with chronic back pain. Previously, another gene was found to have an association with an intervertebral hernia.
To study genetic variants associated with chronic back pain, scientists at the NSU Natural Sciences Department Theoretical and Applied Functional Genomics Laboratory, participated in a meta-analysis of the results of the full-genome analysis of associations performed on various samples in different centers. They also analyzed results from the functional in silico research.

Yakov Tsepilov, Candidate of Biological Sciences and Senior Researcher at the NSU Theoretical and Applied Functional Genomics Laboratory, talked about their work,

An enormous amount of work was done. Despite the huge sample size, only three loci for back pain were found but this is still a serious breakthrough because the trait is very complex, very heterogeneous. It was not clear how to approach it so this is just the beginning of our work. We plan to pursue several different areas in our continued research, including an analysis of an even larger sample of subjects.

The results of this study can help identify the underlying causes of this heterogeneous symptom, and provide opportunities for the development of new treatments.