Genetic Variants of ABO and SOX6 are Associated With Adolescent Idiopathic Scoliosis in Chinese Han Population.

STUDY DESIGN:A genetic association study. OBJECTIVE:The aim of this study was to determine whether variants of ABO, SOX6, and CDH13 are associated with the susceptibility of AIS in Chinese Han population. SUMMARY OF BACKGROUND DATA:A recent large-scale genome-wide association study reported three novel loci in CDH13, ABO, and SOX6 genes associated with adolescent idiopathic scoliosis (AIS) in Japanese population. However, the association of these three genes with AIS in other populations remains obscure. METHODS:The SNPs rs4513093, rs687621, and rs1455114 were genotyped in 1208 female patients and 2498 healthy controls. Samples for the expression analysis in paraspinal muscles were collected from 49 AIS and 33 congenital scoliosis (CS) patients during surgical interventions. Chi-square analysis was used to assess the difference regarding genotype and allele frequency between cases and controls. Tissue expressions of ABO, CDH13, and SOX6 were compared between AIS and CS patients by the Student t test. RESULTS:SNPs rs4513093 of CDH13 and rs687621 of ABO were found to be significantly associated with AIS with an odds ratio of 0.8691 and 1.203, respectively. There was no significant association of rs1455114 with AIS. Moreover, AIS patients were found to have significantly increased expression of ABO. As for expression of CDH13 and SOX6, no remarkable difference was found between the two groups. CONCLUSION:The association of CDH13 and ABO variants with AIS was successfully replicated in the Chinese Han population. More studies are warranted to explore the functional role of ABO in the development of AIS. LEVEL OF EVIDENCE:N/A.

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