青少年特发性脊柱侧凸患者胰岛素样生长因子-1受体基因多态性研究

目的 探讨胰岛素样生长因子-1受体(IGF-1R)基因多态性与青少年特发性脊柱侧凸(AIS)易感性之间的关联性.方法 实验对象为200例MS患者(AIS组)和200名年龄、性别匹配的健康青少年(对照组),记录AIS组的身高、体蓖、月经初潮年龄(女性)、侧弯类型、最大Cobb角和Risser征等临床指标.采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)的方法对所有研究对象进行IGF-1R基因分型,比较不同基因型在AIS组和对照组之间的分布差异,并分析基因多态性与临床指标的相关性.结果 AIS组与对照组的IGF-1R基因等位基因及基因型分布无统计学差异(P＞0.05).女性AIS患者不同基因型所对应的最大Cobb角、Risser征及月经初潮年龄之间差异也无统计学意义(P＞0.05).结论 IGF-1R基因多态性与AIS的发生发展均无相关性.

Association between insulin-like growth factor-1 receptor gene polymorphisms and with susceptibility to adolescent idiopathic scoliosis

Objective To investigate the association of insulin-like growth factor-1 receptor (IGF1R) gene polymorphisms and with susceptibility to adolescent idiopathic scoliosis (AIS).Methods This study included 200 patients with AIS and 200 healthy controls.Height,menarche status,curve pattern,Cobb angle,and Risser sign in female patients were recorded.Blood samples were taken form each subject by venipuncture.Genetic DNA was extract from peripheral blood leukocytes using standard phenol/chloroform extraction.PCR-RFLP(polymerase chain reaction-restriction-fragment length polymorphism)was used for the genotyping.Result The genotype and allele frequency distribution were similar between AIS and normal control (P＞0.05).The mean maximum Cobb angle,Risser sign,menarche status of different genotypes of IGF-1R gene were similar with each other among female AIS patients (P＞0.05).Conclusions The IGF1R gene is neither associated with the occurrence nor the curve severity of AIS.