Pediatric Skeletal Disease Seen in Caucasian and Asian Populations Identified

Researchers have been able to identify a common gene found in those with pediatric skeletal disease, which affects 2 percent of school-age children.

According to researchers from the RIKEN Center for Integrative Medical Sciences in Japan, the gene contributing to idiopathic scoliosis (also called AIS) seen across Asian and Caucasian populations, can greatly affect the growth and development of the spine during childhood.

The cause of scoliosis remains largely unknown, and brace treatment and surgery are the only two treatment options available at this time. However, many clinical and genetic studies have always suggested genetic factors that may contribute to the health issue.

Dr. Ikuyo Kou, Dr. Shiro Ikegawa and their team of researchers on the study have tried to help identify genes that are associated with a susceptibility to develop the condition.

By studying the genome of 1,819 Japanese individuals suffering from scoliosis and comparing it to 25,939 Japanese individuals, the team identified a gene associated with a susceptibility to develop scoliosis on chromosome 6. The association was replicated in Han Chinese and Caucasian populations.

The researchers show 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.

"Our finding suggest the interesting possibility that GPR126 may affect both AIS susceptibility and height through abnormal spinal development and growth," the authors said, concluding that "further functional studies are necessary to elucidate how alterations in GPR126 increase the risk of AIS in humans."

Their study is published today in the journal Nature Genetics.