SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians

ConclusionThe present study is the first to demonstrate the association of SOX9 enhancer locus variants with AIS in any South Asian Indian population. The results are interesting as rs1042667, a 3' untranslated region (UTR) variant in the exon 3 and upstream variants of the SOX9 gene, were associated with AIS susceptibility in the Northwest Indian population. This provides evidence that the variants in the enhancer region ofSOX9 might regulate its gene expression, thus leading to AIS pathology and might act as an important gene for AIS susceptibility.
Source: European Journal of Medical Research - Category: Research Source Type: research