Gene Associated With Adolescent-Onset Scoliosis Identified
Japanese researchers have identified the first gene to be linked to adolescent idiopathic scoliosis.
AsianScientist (Jun 7, 2013) - Researchers at the RIKEN Center for Integrative Medical Sciences in Japan have identified a gene associated with adolescent idiopathic scoliosis (AIS). This is the first time that any gene or specific cause has been linked to this form of scoliosis which affects adolescents.
Scoliosis is a skeletal disease that causes the spine to become deformed: the spine of an individual suffering from scoliosis may look like the shape of an “S” or a “C” when viewed on an X-ray.
AIS, as the name suggests, is a form of scoliosis that has its onset in adolescence, usually during the puberty growth period. Although the condition is called idiopathic because its cause is unknown, scientists have suspected that genetics may play a part in causing AIS.
In their study, published in Nature Genetics, the team from RIKEN sought to uncover genetic risk factors for AIS by studying the genomes over 1,800 patients who suffer from AIS and almost 26,000 unaffected individuals in the Japanese population.
From their genome-wide analysis, the researchers identified variants of a gene, GPR126, that were significantly associated with a higher risk for developing AIS. The team subsequently confirmed that GPR126 is also linked to AIS susceptibility in the Han Chinese and Caucasian populations.
Experiments further showed that the GPR126 gene product, which is known to play a role in human height and trunk length, promotes growth and bone tissue formation in spine development. These findings suggest that genetic alterations in GPR126 may affect both AIS susceptibility and height by causing abnormal spinal development and growth.
The article can be found at: Kou et al. (2013) Genetic Variants In GPR126 Are Associated With Adolescent Idiopathic Scoliosis.
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