生长激素受体基因多态性与特发性矮小遗传易感性的关系
Journal of Shanghai Jiaotong University(Medical Science)(2011)
Abstract
目的探讨人生长激素受体(GHR)基因的单核苷酸多态性(SNP)与中国汉族人群特发性矮小(ISS)遗传易感性的关系。方法采用病例对照法,在199例ISS患儿(ISS组)和469名身高正常成人(对照组)中,对GHR基因16个SNP位点进行基因分型和比较,筛查阳性SNP位点(特异基因型频率差异有统计学意义),分析阳性SNP位点基因型与ISS发病风险及血清胰岛素样生长因子1(IGF-1)等相关临床变量的关系。结果在ISS组和对照组中,发现3个阳性SNP位点rs6182(P=0.027)、rs4410646(P=0.01)和rs10044169(P=0.024)。①rs6182(G/T):在T显性模式下,TT和GT基因型的ISS发病风险降低(OR=0.624,95%CI:0.402~0.969,P=0.021)。②rs4410646(A/C):在C显性模式下AA基因型的ISS发病风险降低(OR=0.674,95%CI:0.475~0.958,P=0.016);该位点的多因素Logistics回归分析显示,以CC基因型为参照,血清IGF-1与基因型AA(OR=1.011,95%CI:1.002~1.020,P=0.018)和CA(OR=1.010,95%CI:1.001~1.019,P=0.037)相关;以AA基因型为参照,血清IGF-1与基因型CC相关(OR=0.989,95%CI:0.980~0.998,P=0.018)。③rs10044169(A/C):在C显性模式下,CC和CA基因型的ISS发病风险降低(OR=0.649,95%CI:0.424~0.993,P=0.027)。结论 GHR在生长激素介导的促生长效应中起重要作用,人类GHR基因的3个SNP位点可能与ISS的遗传易感性有关。
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Key words
insulin-like growth factor 1,single nucleotide polymorphism,susceptibility,growth hormone receptor,idiopathic short stature
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