New Research Reveals Insights into Genetic Factors of Back Problems

European researchers have identified numerous new genetic regions linked to disc issues in the spine, utilizing data from three major biobanks. The extensive study, which involved more than 800,000 participants, uncovered 41 previously unreported genetic loci associated with lumbar disc herniations, commonly known as slipped, ruptured, bulging, or protruded discs.

The research, published in the journal Nature Communications, indicates that many of the identified genetic regions likely influence disc structure and inflammatory factors. Other regions were associated with nerve function, suggesting a complex interplay between genetic factors and spinal health.

This research significantly broadens the understanding of the genetic landscape of lumbar disc herniations and has potential implications for developing targeted therapeutics, preventive measures, and management strategies for associated conditions such as radiating pain.

Study co-author Ville Salo from the University of Oulu in Finland highlighted the discovery of susceptibility genes that may partially account for the persistence of pain and variations in pain experiences among patients with disc issues. Such insights could lead to improved diagnosis and treatment protocols.

Disc herniation is a common structural issue that results in a range of symptoms affecting the lumbar spine. It is known to cause radiating pain in the lower extremities and can lead to nerve compression, particularly in cases associated with sciatica.

The research team conducted a genome-wide association analysis through the FinnGen project, collaborating with Estonian and U.K. biobanks. This was followed by a comprehensive genome-wide meta-analysis that pooled their findings. The analysis reviewed both genetic and health data from a total of 829,699 individuals, identifying 64 loci linked to the risk of lumbar disc herniation, of which only 23 have been reported in previous research.

The presence of numerous loci near genes related to inflammation or disc structures underscores their critical role in the development of lumbar disc herniation. Additional findings suggest involvement from genes responsible for nerve axon growth and regulation, potentially linking them to nerve function and pain perception. The researchers proposed that dysfunction in these genes could contribute to intervertebral disc innervation, intensifying pain sensations. Moreover, connections were found with genes involved in synaptic transmission.