汉族人群白介素17受体C基因单核苷酸多态性与青少年特发性脊柱侧凸的相关性

Interleukin-17 receptor C gene polymorphism associated with the susceptibility of adolescent idiopathic scoliosis in a Chinese Han population

中文关键词:  青少年特发性脊柱侧凸  白介素17受体C基因  单核苷酸多态性  基因型

英文关键词:Adolescent idiopathic scoliosis  Interleukin-17 receptor C gene  Single nucleotide polymorphism  Genotype

中文摘要:

  【摘要】　目的：探讨白介素17受体C（IL-17RC）基因单核苷酸多态性与中国汉族人群青少年特发性脊柱侧凸（adolescent idiopathic scoliosis，AIS）易感性之间的相关性。方法：收集529例AIS女性患者及512例正常同龄女性青少年的静脉血标本，采用聚合酶链反应－限制性片段长度多态性（PCR-RFLP）方法鉴定和统计两组人群IL-17RC基因rs708567和rs279545多态性位点的基因型及等位基因分布频率；比较两组间不同多态性位点各基因型及等位基因分布频率的差异。结果：研究Power值（81%）大于80%，AIS患者组及正常对照组各多态性位点的基因型分布均符合Hardy-Weinberg遗传平衡定律。AIS组rs708567多态性位点GG基因型和G等位基因的分布频率显著高于对照组GG基因型（90.17% vs. 85.55%，P=0.023）和G等位基因（95.1% vs. 92.8%，P=0.028）的分布频率；携带GG基因型青少年中AIS的发病率约为携带AG基因型青少年的1.5倍（OR值=1.55；95% CI:1.45~3.11）。rs279545多态性位点各基因型及等位基因的分布频率在两组间均无统计学差异。结论：中国汉族人群中IL-17RC基因单核苷酸多态性与AIS的发生相关。

英文摘要:

  【Abstract】　Objectives: To investigate the association of interleukin-17 receptor C(IL-17RC) gene polymorphisms with the susceptibility of adolescent idiopathic scoliosis(AIS) in Chinese Han population. Methods: A total of 529 Chinese girls with AIS and 512 healthy age-matched controls were recruited in this study. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique was used to detect the genotype and allele frequency distribution in single nucleotide polymorphism(SNP) rs708567 and rs279545 in both AIS group and control group. Results: The sample size had an 81% power to detect the AIS-relevant SNP within the IL-17RC gene. The genotype frequencies showed no significant deviation from the Hardy-Weinberg equilibrium in either AIS group or control group. For SNP rs708567, both GG genotype and G allele frequencies in AIS patients were significantly higher than those of normal controls(GG: 90.17% vs. 85.55%, P=0.023; G: 95.1% vs. 92.8%, P=0.028). In addition, the study showed that GG genotype of IL-17RC gene was independently associated with the risk of scoliosis(odds ratio=1.55; 95% CI: 1.45-3.11). While, for SNP rs279545, no statistically significant differences were found either in genotype or allele frequencies between AIS patients and controls. Conclusions: IL-17RC gene rs708567 polymorphism is associated with the susceptibility of adolescent idiopathic scoliosis in Chinese Han population.