Abstract: Objective To investigate the relationship between growth hormone receptor (GHR) gene single nucleotide polymorphism (SNP) and idiopathic short stature (ISS) in Guangxi Yao nationality children.Methods A total of 100 ISS children and 100 normal control children were recruited.Height,body mass index (BMI) and serum insulin-like growth factor-1 (IGF-1) level were measured.Genomic DNA was extracted from the peripheral blood leukocytes,and the GHR gene rs4410646,rs2940913,and rs12515480 polymorphisms were genotyped by SNaPshot method. Results The genotype frequencies of rs4410646 (A/C) in ISS children were significantly different from those in controls (P<0.05).The allelic frequencies of rs4410646 in ISS children were not significantly different from those in controls (P>0.05).The genotype and allelic frequencies of rs2940913 (A/C) and rs12515480 (C/T) in ISS children were not significantly different from those in controls (P>0.05).The IGF-1 level within the ISS group was significantly lower than that of the control group (P<0.05).Conclusion GHR gene rs4410646,rs2940913,and rs12515480 polymorphisms are not associated with idiopathic short stature in Yao nationality children of Guangxi province.

Key words: idiopathic short stature, growth hormone receptor gene, Yao nationality

摘要： 目的 探讨生长激素受体(growth hormone receptor,GHR)基因的单核苷酸多态性(SNaPshot,SNP)与广西瑶族儿童特发性矮小(idiopathic short stature,ISS)遗传易感性的关系。方法 采用病例对照法,对100例广西瑶族ISS病例及100例广西瑶族正常儿童分别进行身高、体重测量及血清胰岛素样生长因子-1(insulin-like growth factor-1,IGF-1)测定。利用SNaPshot技术分析这些儿童GHR基因的rs4410646、rs2940913、rs12515480等3个SNPs位点进行基因型和等位基因频率的分布情况。结果 1)rs4410646(A/C)位点AA、AC、CC基因型分布在ISS组与正常组中差异有统计学意义(P<0.05),等位基因A、C在ISS组与正常组中差异无统计学意义(P>0.05);2) rs2940913(A/C)位点AA、AC、CC基因型及等位基A、C在ISS组和正常对照组中差异无统计学意义(P>0.05);3)rs12515480(C/T)位点CC、CT、TT基因型及等位基因C、T在ISS组和正常对照组中差异均无统计学意义(P>0.05);4)ISS组儿童IGF-1水平明显低于正常组儿童。结论 GHR基因的rs4410646、rs12515480、rs2940913等3个SNPs位点变异性与广西瑶族儿童特发性矮小症无相关性。

关键词: 特发性矮小症, 生长激素受体基因, 瑶族