Genetic Variant of GPR126 Gene is Functionally Associated With Adolescent Idiopathic Scoliosis in Chinese Population

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Study Design.A genetic association study of GPR126 gene with adolescent idiopathic scoliosis (AIS) in the Chinese population.Objective.To investigate whether rs9403380, rs6570507, and rs7774095 of GPR126 gene are susceptible locus of AIS and to further determine the functional variants regulating gene expression in tissues of AIS.Summary of Background Data.Previous studies have identified several new susceptibility locus for AIS in GPR126 gene. No studies have, however, investigated GPR126 expression in tissues of AIS, and the regulatory role of susceptible variants in the gene expression remains obscure.Methods.Rs9403380, rs6570507, and rs7774095 were genotyped in 1956 patients with AIS and 2094 controls. The differences of genotype and allele distributions between patients and controls were calculated using chi-square test. Paravertebral muscles were collected from 67 patients with AIS, 20 patients with congenital scoliosis, and 20 patients with lumbar disc herniation. Vertebral bones were obtained in eight patients with AIS and five patients with lumbar disc herniation. Patients with AIS were classified into three groups according to the genotypes of each single-nucleotide polymorphism, and one-way analysis of variance test was used to compare GPR126 expression among different groups and genotypes.Results.All the three single-nucleotide polymorphisms were found significantly associated with AIS. Allele C of rs9403380, allele G of rs6570507, and allele A of rs7774095 can significantly add to the risk of AIS with an odds ratio of 1.17, 1.16, and 1.15, respectively. Patients with AIS were found to have significantly higher GPR126 expression than controls. Moreover, there was significant difference between the expression of the GPR126 in the concave side and convex side of the patients with AIS. Patients with rs9403380 genotype CC have a significantly increased expression of GPR126 than those with TT.Conclusion.Rs9403380 could be a functional variant regulating the expression of GPR126 in the paraspinal muscles of AIS, which may serve as a potential biomarker for the early diagnosis of AIS.Level of Evidence: N/A

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