Researchers at the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (AIS), according to a news release.
Although the cause of AIS is unknown, previous studies suggest that genetics could be a factor. To investigate this, the researchers compared the genomes of 1,819 Japanese patients with scoliosis and 25,939 individuals without scoliosis. The researchers identified a gene associated with a susceptibility for developing scoliosis on chromosome 6. This association was also replicated in Han Chinese and white populations.
The researchers showed that the susceptibility gene, GPR126, is highly expressed in cartilage and that suppression of this gene could lead to delayed growth and bone tissue formation in the developing spine. GPR126 is also known to play a role in human height and trunk length.
“Our findings suggest the interesting possibility that GPR126 may affect both AIS susceptibility and height through abnormal spinal development and growth,” the study authors stated in the release. “Further functional studies are necessary to elucidate how alterations in GPR126 increase the risk of AIS in humans.”
For more information:
Kou I. Nature Genetics. 2013. doi: 10.1038/ng.2639.