The research team led by Qiu Yong, Zheng Zhenyao who arefrom Nanjing Drum Tower Hospital in Jiangsu Province have being researched onAIS and the result has been published on Nature Communications. This resultrevealed three genetic variations which related to AIS. This disease affectednearly 2%-4% children structural spine deformities in the world and it alwaysbeen considered to be associated with multiple genes.

Previous studies have reported some genes associated with AIS, but most of them couldn’t be replicated in different races. In order tostudy the genetic variation linked to the AIS risk in China, the research teamhas done researches on GWAS (Genome-Wide Association Studies) for four stages with 4317 AIS patients and 6016 participants as control group. 

Research found that 4 SNP genetic variation were significantly related to the Chinese AIS risk and three of them were newlyfound genetic variation. The first SNP (rs678741) is found in the LBX1 gene andits expression is high in spinal cord and muscle. The second SNP is located inBCL-2 gene which can control and regulate osteoblast. The third SNP(rs13398147) is located between two genes which mediate the neuro development.The forth SNP is near a gene which takes charge of cell adhesion, migration andinvasion.

The research on the 632 cases showed that SNP (rs241215) may be associated with the severity of the vertebral column. The research erindicated that it is the first GWAS on AIS in China. The further study aboutthe expression of these gene in AIS patient body will be conducive to revealing how they affect the development of AIS.

Time:2015.9.23

Source: China Science Daily