Chronic back pain associated with three genes SOX5, DCC, DIS3L2 and intergenic CCDC26/GSDMC

Analysis of 158,025 genomes, including 29,531 adults suffering from chronic back pain, pointed to a few genetic variants. Significant risk factor has been found in an intron (segment usually not translated to a protein) of gene SOX5 and was called rs12310519.

Another gene mildly associated with chronic back pain was DCC – a variant also in an intron, named rs4384683. The second mild discovered variant is rs7833174 between genes CCDC26 and GSDMC. The third is rs1453867 in gene DIS3L2.

Detected variants influence the embryonal development of bones and nerve cells. In mice models, the genes affect cartilage and skeletal tissues.

The study was based on European adults genomes, and further was replicated in 283,752 UK genomes.

More: “Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain” P. Suri et al., 2018, doi.org/10.1371/journal.pgen.1007601.