Researchers from the RIKEN Center for Integrative Medical Sciences, Saitama, Japan, have identified what they say is the first gene to be associated with adolescent idiopathic scoliosis (AIS) across Asian and Caucasian populations. The gene is involved in the growth and development of the spine during childhood.
The study was published online May 12 in the journal Nature Genetics.
AIS is the most common pediatric skeletal disease, affecting about 2 percent of children over the age of five. The causes of scoliosis remain largely unknown but clinical and genetic studies have suggested the contribution of genetic factors.
The research team studied the genome of 1,819 Japanese individuals suffering from scoliosis and compared it to 25,939 Japanese individuals without scoliosis. They were thereby able to identify a gene associated with a susceptibility to develop scoliosis on chromosome six. The association was then replicated in Han Chinese and Caucasian populations. The research showed that the susceptibility gene, GPR126, is highly expressed in cartilage and that suppression of this gene leads 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.
The authors concluded that further functional studies can demonstrate how the alterations in GPR126 increase the risk of AIS in humans.
