TGFB1基因多态性对特发性矮小症患儿重组人生长激素治疗效果的影响  

Effect of TGFB1 Gene Polymorphism on Therapeutic Effect of Recombinant Human Growth Hormone in Children with Idiopathic Short Stature

作　　者：李航 杨正祥[2] LI Hang;YANG Zheng-xiang(Department of Child Healthcare,Longquanyi District of Chengdu Maternity and Child Health Care Hospital;Department of Stomatology,the First People’s Hospital of Longquanyi District of Chendu,Chengdu 610100,China)

机构地区：[1]成都市龙泉驿区妇幼保健院儿童保健科 [2]成都市龙泉驿区第一人民医院口腔科,四川成都610100

出　　处：《南昌大学学报（医学版）》2021年第5期56-60,共5页Journal of Nanchang University：Medical Sciences

摘　　要：目的研究转化生长因子β1(TGFB1)基因多态性对特发性矮小症(ISS)患儿重组人生长激素(rhGH)治疗效果的影响。方法选取2017年12月至2019年12月在成都市龙泉驿区妇幼保健院以rhGH治疗的67例ISS患儿,男37例,女30例,平均年龄(7.9±1.5)岁,平均身高(109.96±6.32)cm。记录rhGH治疗前和治疗1年后所有ISS患儿的身高、体重、体重指数(BMI)以及身高均值标准差积分(SDS),用X线检测ISS患儿的骨龄,并计算各指标治疗前后的差值(Δ)。采用酶联免疫法(ELISA)检测血清中的胰岛素样生长因子-1(IGF-1)和胰岛素样生长因子结合蛋白-3(IGFBP-3)水平。使用聚合酶链式反应(PCR)扩增患者TGFB1基因片段,并对患者进行基因组单核苷酸多态性位点测序。结果rs4803455位点AA基因型有8例,占比11.94%;AC基因型有43例,占比64.18%;CC基因型16例,占比23.88%。rs22417115位点TT基因型有15例,占比22.39%;TG基因型有41例,占比61.19%;GG突变11例,占比16.42%。rs22417115基因型中GG型患儿Δ身高显著高于TT型患儿(P<0.05)。rs22417115基因型中TG、GG型患儿ΔBMI、Δ身高SDS和ΔIGFBP-3均显著高于TT型患儿(P<0.05或P<0.01)。rs4803455各基因型间患儿上述各指标差异无统计学意义(P>0.05)。结论TGFB1基因rs22417115位点的基因多态性能显著影响rhGH对ISS患儿的治疗效果。Objective To study the effect of transforming growth factorβ1(TGFB1)gene polymorphism on the therapeutic effect of recombinant human growth hormone(rhGH)in children with idiopathic short stature(ISS).Methods A total of 67 ISS children treated with rhGH in Longquanyi District of Chengdu Maternity and Child Health Care Hospital from December 2017 to December 2019 were selected in this study.Among the 67 ISS children,37 were male and 30 were female,with an average age of(7.9±1.5)years old and an average height of(109.96±6.32)cm.The height,weight,body mass index(BMI)and mean height standard deviation score(SDS)were recorded before and after rhGH treatment.In addition,the bone age of ISS children was detected by X-ray.The difference before and after treatment(Δ)was calculated.Serum levels of insulin-like growth factor-1(IGF-1)and insulin-like growth factor binding protein-3(IGFBP-3)were detected by ELISA.TGFB1 gene fragments were amplified by PCR,and were sequenced for genomic single nucleotide polymorphism sites.Results At rs4803455 site,8 cases(11.94%)carried the AA genotype,43 cases(64.18%)carried the AC genotype,and 16 cases(23.88%)carried the CC genotype.At rs22417115 site,15 cases(22.39%)had TT genotype,41 cases(61.19%)had TG genotype,and 11 cases(16.42%)had GG mutation.Among the rs22417115 genotypes,theΔheight in GG genotype group was greater than that in TT genotype group,and theΔBMI,Δheight SDS andΔIGFBP-3 in TG and GG genotype groups were greater than those in TT genotype group(P<0.05 or P<0.01).There were no significant differences in these indicators between different groups among rs4803455 genotypes(P>0.05).Conclusion The TGFB1 gene polymorphism at rs22417115 significantly affects the therapeutic effect of rhGH in children with ISS.

关 键 词：特发性矮小症 重组人生长激素 TGFB1基因 基因多态性 

分 类 号：R725.8[医药卫生—儿科]