特发性矮小患儿胰岛素样生长因子受体基因单核苷酸多态性研究

目的：探讨胰岛素样生长因子-I受体（IGF-IR）基因单核苷酸多态性（SNP）与特发性矮小（ISS）的发病危险的相关性。方法：2008~2011年确诊为ISS患儿804例，正常对照组575例，用Snapshot法检测两组 IGF-IR基因相关位点SNP。结果：两组rs1976667基因型分布频率差异无统计学意义（P>0.05）；rs1976667 A等位基因分布频率较正常对照组高，差异有统计学意义（P<0.01)。结论：IGF-IR基因rs1976667位点等位基因A是ISS发病的危险因素。

Association between single nucleotide polymorphism of insulin-like growth factor receptor gene and idiopathic short stature

Objective To study the association between single nucleotide polymorphism(SNP) of insulin-like growth factor I receptor(IGF-IR) gene and idiopathic short stature(ISS).Methods A total of 804 children with ISS and 575 normal controls were recruited from 2008 to 2011.IGF-IR gene SNP was genotyped using the Snapshot Multiplex System.Results The distribution frequency of genotype rs1976667 showed no significant difference between the ISS and the control groups,while that of the allele A of rs1976667 was significantly higher in the ISS group than in the control group(P<0.01).Conclusions The allele A at rs1976667 SNP of IGF-IR gene is a risk factor for ISS.