An international research team has identified dozens of new genetic risk factors linked to lumbar spinal stenosis, a common degenerative condition of the lower spine. The study, led by researchers at the University of Oulu, provides new insight into the biological mechanisms behind one of the most frequent causes of mobility problems in older adults.
Lumbar spinal stenosis develops when structures in the lower spine gradually degenerate and narrow the spinal canal. As the space within the canal becomes restricted, nerves passing through it can become compressed.
The condition is particularly common among older adults. In many cases it causes no symptoms, but for some patients it can significantly affect mobility and quality of life. A hallmark symptom is so-called neurogenic claudication: pain, numbness or weakness radiating to the legs during walking, often forcing people to stop and rest.
With ageing populations worldwide, lumbar spinal stenosis is becoming increasingly prevalent. It is estimated to affect more than 100 million people globally.
To better understand the hereditary component of the disease, researchers analysed genetic and health data from more than 780,000 individuals. Previous studies have suggested that lumbar spinal stenosis may have a hereditary component, but its genetic basis has remained relatively poorly understood.
The study draws on large-scale datasets from the Finnish FinnGen project, the Estonian Biobank and the UK Biobank.
“This is one of the largest genetic studies of lumbar spinal stenosis”, says Ville Salo, a postdoctoral researcher at the University of Oulu and the study’s lead analyst.
The analysis identified 73 previously unknown genetic regions associated with the risk of lumbar spinal stenosis, in addition to 15 loci that had been reported earlier.
The researchers also examined patients who had undergone surgery due to severe stenosis. In this group, 32 genetic regions were associated to more advanced forms of the disease requiring surgical treatment.
Many of the genetic regions identified in the study are linked to biological pathways involved in spinal structure, degenerative processes and nervous system function.
According to the researchers, the findings may help explain why some people develop symptomatic spinal stenosis while others with similar age-related changes remain unaffected.
In the longer term, improved understanding of the genetic mechanisms behind the condition could support the development of more targeted treatments and help identify individuals at higher risk. The researchers also note that more effective treatments could eventually help reduce healthcare costs associated with the condition.