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Association study of IL-17RC, CHL1, DSCAM and CNTNAP2 genes polymorphisms with adolescent idiopathic scoliosis susceptibility in a Chinese Han population.

Recently, several genome wide association studies suggested IL-17RC, CHL1, DSCAM and CNTNAP2 genes polymorphisms were associated with AIS. To confirm these associations, we performed this case-control study using data from 648 AIS patients and 573 healthy adolescent of Chinese Han population. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed to detect the genotypes of polymorphic loci: rs708567 rs279545 in IL-17RC gene, and rs2055314, rs331894, rs2272524, rs2272522 in CHL1 gene, and rs2222973 in DSCAM gene, and rs2710102, rs11770843 in CNTNAP2 gene. Statistical analysis of genotype frequencies between AIS patients and controls were performed by χ2 test. Our results show that both the genotype frequency and allele frequency of loci rs708567 were significantly different between AIS patients and controls (P = 0.023, 0.028, respectively). As for polymorphic loci rs279545, rs2222973, rs279545, rs2055314, rs331894, rs2272524, rs2272522, no significant difference was found between AIS patients and controls either genotype or allele frequencies (p>0.05). Overall, our study found a significant association of IL-17RC gene polymorphisms with AIS in a Chinese Han population, indicating IL-17RC gene may be as a susceptibility gene for AIS; While CHL1, CNTNAP2 and DSCAM genes were not associated with AIS, suggesting that those genes may not be involved in the etiopathogenesis of AIS. However, association study of these genes with AIS in other races is needed to clarify the role of these genes in the etiology of AIS.