BoneKEy Reports | BoneKEy Watch
Susceptibility locus for adolescent idiopathic scoliosis identified
DOI:10.1038/bonekey.2013.187
Kou et al. have been investigating the genetic basis of adolescent idiopathic scoliosis (AIS), the most frequently occurring skeletal disease to affect juveniles. The group had shown that susceptibility for AIS was linked to a locus on chromosome 10q24.31 in Japanese individuals. This study has expanded on that work to identify further loci associated with AIS.
Expansion of the original genome-wide association study (GWAS) was done by increasing the number of replication cohorts used and by adding SNPs from the X-chromosome. Over 1800 cases and almost 26 000 controls were included.
The single nucleotide polymorphism rs6570507 was found to be significantly associated with AIS susceptibility; this is located on chromosome 6q24.1 in Japanese individuals, in GPR126, the gene that codes for G protein-coupled receptor 126. Replication of the results was confirmed in populations with European and Han Chinese ancestry.
Editor’s comment: We know from another recent study that mice lacking Gpr126 exhibit growth failure and develop abnormalities in limb posture. It is worth noting, therefore, that this study found GPR126 expression to be particularly high in cartilage, and that knocking out Gpr126 in zebrafish led to a delay in bone formation in vertebrae during development. Interestingly, a GWAS of human height yielded associations with common SNPs in GPR126 in both children and adults; the same SNP, rs6570507, was also associated with trunk length in European populations.
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