Investigating Role of IRX Family in Development of Female Adolescent Idiopathic Scoliosis: Which One Is Real Cause?

BACKGROUND:Previous studies showed that several variants located around the IRX family may have functional roles in the development of adolescent idiopathic scoliosis (AIS). However, there was lack of knowledge concerning the target gene of the region on 5p13.3 and the role of IRX genes in the etiology of AIS. This study aimed to validate the relationship between the IRX family and AIS in a large-scale general population and to further investigate the target gene of the region, which was associated with AIS. METHODS:SNP rs12517904 and rs117273909 were genotyped in 1323 patients and 1670 age-matched healthy controls. Paraspinal muscle was collected from 70 AIS patients and 20 congenital scoliosis patients. Student's t-test was used to compare the IRX1 expression between AIS patients and controls. The 1-way analysis of variance test was used to compare the expression of the IRX genes among different genotypes. RESULTS:For rs12517904, patients were found to have a significantly higher frequency of allele T than the controls (37.6% vs. 34.7%, P = 0.02). Allele T can significantly add to the risk of AIS with an odds ratio of 1.14. AIS patients were found to have significantly lower IRX1 expression than the controls. Patients with genotype TT were found to have significantly lower IRX1 expression than those with genotype GG. CONCLUSIONS:Our large-scale case control study validated that the IRX1 gene could be the disease-associated gene of AIS. The variant rs12517904 of the IRX1 gene is functionally associated with the development of AIS in the Chinese population. The role of IRX1 in the onset of AIS is worthy of further investigation.

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