rs66593747基因型对矮小症患儿Cor IGF-1水平及rhGH疗效的影响

Influenceof genotypes at rs66593747 on Cor,IGF-1 and curative effect of rhGH in children with short stature

目的 探究rs66593747位点基因型对矮小症患儿血清皮质醇(Cor)、胰岛素样生长因子-1(IGF-1)水平及重组人生长激素(rhGH)治疗疗效的影响。方法 选择2018年12月至2020年7月平顶山市第一人民医院和郑州市儿童医院收治的93例矮小症患儿以及同期体检的35例健康儿童作为研究组与对照组,测定并比较两组对象rs66593747位点基因型(AA、AT、TT型)以及血清Cor、IGF-1水平;依据rhGH疗效将研究组患儿分为有效组与无效组,比较两组rs66593747位点基因型(AA、AT、TT型)、Cor、IGF-1水平,分析rs66593747位点基因型与血清Cor、IGF-1水平及rhGH疗效的关系。结果 研究组AT频率、IGF-1水平低于对照组,TT频率、Cor水平高于对照组差异均有统计学意义(P<0.05)。AT型基因患儿Cor水平低于TT型与AA型,IGF-1水平高于TT型与AA型(P<0.05)。有效组AT频率、IGF-1水平高于无效组,Cor水平低于无效组(P<0.05);rs66593747位点基因型与血清Cor、IGF-1、rhGH治疗疗效分别呈负相关、正相关以及无相关性(r=-0.354,P<0.05;0.312,P<0.05;0.062,P>0.05)。结论 rs66593747位点基因型会影响矮小症患儿血清Cor、IGF-1水平,但不会影响rhGH疗效。

Objective To explore the influenceof genotypes at rs66593747 on serum cortisol(Cor),insulin-like growth factor-1(IGF-1) andthe curative effect of recombinant human growth hormone(rhGH) in children with short stature.Methods A total of 93 children with short stature(study group) admitted to Pingdingshan First People’s Hospital and Zhengzhou Children’s Hospital from December 2018 to July 2020,and 35 healthy children(control group) were selected as the study subjects.Genotypes(AA,AT,TT) at rs66593747 locus,serum Cor and IGF levels were compared between the two groups.According to the curative effect of rhGH,children in study group were divided into effective group and ineffective group.The two groups were compared in terms of genotypes(AA,AT,TT) at rs66593747 locus,serum Cor and IGF levels.The relationship of genotypes at rs66593747 with serum Cor,IGF-1 and curative effect of rhGH was analyzed.Results AT genotype frequency and IGF-1 level inthe study group were lower than those in the control group(P<0.05),while TT genotype frequency and Cor level were higher than those in the control group(P<0.05).Cor level in children with AT genotype was lower than that in children with TT genotype and AA genotype,while IGF-1 level was higher than that in children with TT genotype and AA genotype(P<0.05).AT genotype frequency and IGF-1 level in the effective group were higher than those in the ineffective group,whileCor level was lower than that in the ineffective group(P<0.05).Genotypes at rs66593747 were negatively,positively and not correlated with serum Cor,IGF-1 and curative effect of rhGH,respectively(r=-0.354,P<0.05;0.312,P<0.05;0.062,P>0.05).Conclusions The genotypesat rs66593747 have influence on serum Cor and IGF-1 levels but have no influence on the curative effect of rhGH in children with short stature.