BMC Musculoskeletal Disorders | |
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 | |
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 |
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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.
【 预 览 】
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20150403022056607.pdf | 180KB | download |
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