Abstract: Objective To investigate the association between single nucleotide polymorphisms(SNPs) of insulin-like growth factor type 1 receptor (IGF-IR) gene and idiopathic short stature(ISS) in Jiangxi area,and provide new thinking for preventing and treating of ISS.Methods A total of 295 Chinese subjects with clinically diagnosed ISS and 314 normal controls in Jiangxi area were recruited.SNPs were genotyped using the SNaPshot Multiplex System. Results Significant association of SNP rs2684788 with ISS was found in Jiangxi area population among allelic model(G vs.A,OR=1.685,95%CI=1.272,2.233,P<0.001),genotypes(GG v.s GA vs.AA,χ²=13.724,P<0.001),dominant model(GG+GA vs.AA:OR=1.887,95%CI=1.352~2.634,P<0.001).Significant association of SNP rs2684788(GG+GA genotypes) with IGF-1SDS was found (P<0.004).Conclusion Human IGF-1R gene SNP rs2684788 might be associated with ISS genetic susceptibility in Jiangxi area population,and might be associated with ISS clinical phenotype.

Key words: idiopathic short stature, insulin-like growth factor type 1 receptor, single nucleotide polymorphisms, susceptibility

摘要： 目的 探讨江西省特发性矮小症与人胰岛素样生长因子受体-1(insulin-like growth factor type 1 receptor,IGF-1R)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)位点遗传易感性的关系,为研究ISS的病因提供新的思路。方法 选择江西省295例特发性矮小症(idiopathic short stature,ISS)患儿(ISS组),314名身高正常儿童(对照组),用SNaPshot技术平台进行基因分型。结果 江西省ISS患者rs2684788位点等位基因(G vs.A,OR=1.685,95%CI=1.272,2.233,P<0.001)、不同基因型(GG vs.GA vs.AA,χ²=13.724,P<0.001)与ISS遗传易感性有关,呈G显性遗传模式(GG+GA vs.AA:OR=1.887,95%CI=1.352~2.634,P<0.001);ISS组rs2684788位点(GG+GA)基因型与IGF-1SDS比较差异有统计学意义,提示(GG+GA)基因型与IGF-1SDS 值有关(P=0.004)。结论 人IGF1R基因rs2684788位点可能与江西省ISS的遗传易感性有关;ISS不同的临床表型可能和SNP位点多态性有关。

关键词: 特发性矮小症, 胰岛素样生长因子受体-1, 单核苷酸多态性, 遗传易感性