人胰岛素样生长因子受体-1基因突变与儿童矮小症发病的相关性及作用机制分析

Correlation between IGF-1R Gene Mutation and Children's Dwarfism

目的探讨人胰岛素样生长因子受体-1(IGF-1R)基因多态性与儿童特发性矮小症(ISS)的相关性。方法选取2014年2月至2017年3月在我院就诊的ISS患儿179例(ISS组),同时选取358例正常儿童作为对照组,采用SnaPshot技术检测IGF-1R基因的rs1976667、rs2684788位点基因型和等位基因频率,同时测定患儿胰岛素样生长因子(IGF-1)水平。结果 ISS组和对照组rs1976667位点基因型及等位基因型比较差异无统计学意义(P>0.05);ISS组和对照组rs2684788位点基因型及等位基因型比较,差异有统计学意义(P<0.05),其中ISS组AA基因型和等位基因A频率分别为11.73%和31.28%,明显高于对照组;ISS组rs1976667位点不同基因型患儿IGF-1比较差异无统计学意义(P>0.05);ISS组rs2684788位点基因型AA患儿IGF-1为(143.16±38.11)ng/mL,明显低于GG型和GA型,差异有统计学意义(P<0.05)。结论 IGF-1R基因rs2684788位点与ISS发生有一定关系,值得进一步研究。

Objective To investigate the correlation between human insulin-like growth factor receptor-1 （IGF-1 R）gene polymorphism and idiopathic dwarfism （ISS） in children. Methods 179 cases of children were selected from February 2014 to March 2017 in our hospital to the ISS group（ISS）, at the same time 358 cases of normal children were selected to the control group, using the SnaPshot technology to detect rs1976667, rs2684788 genotype and allele frequencies and insulin-like growth factor （ IGF-1 ） level of Children patient. Results There was no significant difference （ P 〉 0. 05 ） between genotypes and alleles at rs1976667 site in ISS group and control group. While the difference was statistically significant（ P 〈 0. 05 ） between ISS group and the control group rs2684788 site genotype and allele model, of which the ISS group AA genotype and allele frequency of A are 11.73 % and 31.28 %, respectively, significantly higher than the control group;There was no statistically significant difference in IGF-1 between children with different genotypes at the rs1976667 site in ISS group （P 〉 0. 05）. IGF-1 in children with genotype AA at rs2684788 in ISS group was（ 143.16 ± 38.11 ） ng/mL, significantly lower than GG type and CA type, and the difference was statisfically significant（P 〈 0. 05 ）. Conclusion IGF-1R rs2684788 has a certain relationship with the occurrence of ISS, which is worthy of further study.