A single-nucleotide polymorphism rs708567 in the IL-17RC gene is associated with a susceptibility to and the curve severity of adolescent idiopathic scoliosis in a Chinese Han population: a case-control study

BMC Musculoskeletal Disorders

Yong Qiu¹  Zhen Liu¹  Wei-fei Wu¹  Ze-zhang Zhu¹  Xu-sheng Qiu¹  Song Zhou¹ 

[1] Spine Surgery Department, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China

关键词: Single-nucleotide polymorphism;    IL-17RC;    Adolescent idiopathic scoliosis;   

Others  :  1145804
DOI  :  10.1186/1471-2474-13-181

 received in 2012-03-10, accepted in 2012-09-14,  发布年份 2012

【 摘 要 】

Background

Although the pathogenesis of adolescent idiopathic scoliosis (AIS) remains controversial, genetic factors are thought to play key roles in the development of AIS. In a recent genome-wide association study, a polymorphism in the interleukin-17 receptor C (IL-17RC) gene was reported to be associated with the susceptibility to AIS, implicating IL-17RC as a novel predisposing gene for AIS. However, as this association has not been replicated in other populations, its global applicability remains unclear.

Methods

A total of 529 Chinese girls with AIS and 512 healthy age-matched controls were recruited in this case–control study from June 2007 to December 2009. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis was performed to detect the genotype of the single-nucleotide polymorphism (SNP) rs708567 in the IL-17RC gene. Case–control and case-only studies were performed to determine the association between the IL-17RC gene polymorphism and the susceptibility to and curve severity of AIS.

Results

The GG genotype and G allele frequencies were significantly higher in the AIS patients than in the controls (χ² test: P = 0.023 and 0.028, respectively). The risk for the GG genotype is 1.550-fold (95% CI: 1.062 - 2.261) higher than the AG genotype, and the risk for the G allele is 1.507-fold (95% CI: 1.046 - 2.172) higher than the A allele. Additionally, a subgroup of skeletally mature AIS patients (n = 241) who carried the GG genotype showed a significantly higher mean maximum Cobb angle than those carrying the AG genotype (36.01 ± 13.12° vs. 28.92 ± 7.43°, P = 0.007).

Conclusions

This study confirms the significant association between the IL-17RC gene polymorphism and the susceptibility to and curve severity of AIS in a Chinese Han population, suggesting that the IL-17RC gene is an AIS-predisposing gene in Chinese Han population.

【 授权许可】

   
2012 Zhou et al.; licensee BioMed Central Ltd.

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