GHIGF遗传变异与特发性矮小症的发病及甲状腺结合球蛋白缺乏的关系  

Relationship between genetic variation of GHIGF and idiopathic short stature disease and thyroid binding globulin deficiency

作　　者：何凤[1] 王城[1] 赵丹[1] 梁云[1] 王阿蕾[1] 蒲娟 HE Feng;WANG Cheng;ZHAO Dan(Department of Pediatric Surgery,Affiliated Hospital of North Sichuan Medical College,Nanchong Sichuan 637000,China)

机构地区：[1]川北医学院附属医院小儿外科,四川南充637000

出　　处：《临床和实验医学杂志》2022年第21期2323-2326,共4页Journal of Clinical and Experimental Medicine

基　　金：四川省卫健委普及应用项目(编号:20PJ147)。

摘　　要：目的探讨生长激素-胰岛素样生长因子(GHIGF)遗传变异与特发性矮小症的发病及甲状腺结合球蛋白(TBG)缺乏的关系。方法回顾性选择2019年1月至2022年5月于川北医学院附属医院收治的60例特发性矮小症患儿(特发性矮小症组)和60名健康体检儿童(对照组)。检测GHIGF基因多态性,对等位基因频率及Hardy-Weinberg平衡性做分析。结合两组患者的生长激素、胰岛素样生长因子(IGF)和TBG水平解析GHIGF遗传变异与特发性矮小症的发病及TBG缺乏的相关性。结果GHIGF基因位点分布符合Hardy-Weinberg平衡规律(P>0.05),且特发性矮小症组患儿血清生长激素、IGF为(10.54±2.31)、(122.98±20.65)μg/L,均显著高于对照组儿童[(5.66±0.98)、(85.44±10.47)μg/L],TBG水平为(13.33±1.09)μg/L,显著低于对照组儿童[(89.76±6.38)μg/L],差异均有统计学意义(P<0.05)。其中GHIGF基因的rs2684788位点和rs1976667位点的AA和AG基因型均与特发性矮小症的发病风险存在相关性(P<0.05);多因素联合分析也均表明,上述基因型与特发性矮小症的发病风险存在相关性(P<0.05);且GHIGF基因的rs2684788位点和rs1976667位点与TBG缺乏存在相关性(P<0.05)。结论GHIGF遗传变异与特发性矮小症的发病及TBG缺乏之间有显著相关性,临床可根据患者不同基因型分群进行特异性调整干预方案。Objective To investigate the relationship between genetic variation of growth hormone-insulin like growth factor(GHIGF)and idiopathic short stature disease and thyroid binding globulin(TBG)deficiency.Methods Sixty children with idiopathic short stature(idiopathic short stature)and 60 healthy children(control group)admitted to the Affiliated Hospital of North Sichuan Medical College from January 2019 to May 2022 were retrospectively selected.The polymorphism of GHIGF gene was detected.Allele frequency and Hardy-Weinberg balance were analyzed.Combined with the levels of growth hormone,insulin like growth factor(IGF)and TBG in the two groups of patients,the correlation between GHIGF genetic variation and the pathogenesis of idiopathic short stature and TBG deficiency was analyzed.Results The distribution of GHIGF gene loci conformed to the Hardy-Weinberg equilibrium law(P>0.05),and the levels of serum growth hormone,IGF in the idiopathic short stature were(10.54±2.31),(122.98±20.65)μg/L,which were higher than those of the children in the control group[(5.66±0.98),(85.44±10.47)μg/L],the level of TBG was(13.33±1.09)μg/L,which was significantly lower than that of control group[(89.76±6.38)μg/L],the differences were statistically significant(P<0.05).Rs2684788 locus,rs1976667 locus of GHIGF gene AA and AG genotypes were correlated with the risk of idiopathic short stature(P<0.05).Multivariate analysis also showed that the above genotypes were correlated with the risk of idiopathic short stature(P<0.05).Rs2684788 locus and rs1976667 locusof GHIGF gene were correlated with TBG deficiency(P<0.05).Conclusion There is a correlation between genetic variation of GHIGF and the incidence of idiopathic short stature disease and TBG deficiency.Clinical intervention can be specifically adjusted according to different genotypes of patients.

关 键 词：特发性矮小症 生长激素-胰岛素样生长因子 遗传变异 甲状腺结合球蛋白缺乏 

分 类 号：R725.8[医药卫生—儿科]