生长激素受体基因多态性与广西瑶族儿童特发性矮小症的相关性研究

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(P0.05),等位基因A、C在ISS组与正常组中差异无统计学意义(P0.05);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(P0.05);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(P0.05);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。

Relationship between growth hormone receptor gene polymorphism and idiopathic short stature in Guangxi Yao nationality children.

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.