特发性矮小患儿生长激素受体基因Ex3多态性与重组人生长激素疗效分析

目的：观察生长激素受体（GHR）基因Ex3多态性与重组人生长激素（rhGH）治疗青春期前特发性矮小（ISS）疗效间的相关性。方法：青春期前ISS患儿30例，均采用rhGH［0.116±0.02 IU/(kg/d)］治疗；其外周血白细胞中抽提基因组DNA，采用多重PCR扩增GHR基因Ex3区域。对不同基因型患儿治疗后生长速率（GV）、年龄对应身高标准差积分（HtSDSCA）及骨龄对应身高标准差积分（HtSDSBA）、预测终身高进行比较。结果：rhGH治疗半年后d3/d3基因型组GV较fl/fl基因型组明显增加［（6.3±1.6）cm/年 vs （3.4±0.5）cm/年，P<0.05］。结论：ISS患儿GHR Ex3基因型与rhGH促生长疗效存在一定关联，d3/d3等位基因型患儿用rhGH治疗后生长速率明显优于fl/fl等位基因型。［中国当代儿科杂志，2010，12（9）：730-733］

Relationship between the polymorphism of growth hormone receptor Ex3 and the efficacy of rhGH treatment in children with idiopathic short stature

Objective To assess the influence of growth hormone receptor (GHR) Ex3 genotype on the short-term response to recombinant human growth hormone (rhGH) therapy in children with idiopathic short stature (ISS).Methods Thirty prepubertal children with ISS receiving rhGH treatment 0.116 ± 0.02 IU/(kg/d) ]were randomly recruited.The GHR Ex3 locus was genotyped using a PCR multiplex assay.The growth data including growth velocity,height SDS for chronological age (HtSDSCA),height SDS for bone age (HtSDSBA) and predict final height were compared in children with different GHR genotypes 6 months after rhGH treatment.Results After 6 months of rhGH treatment,the children with ISS carrying d3 /d3 alleles showed a significantly higher increment in growth velocity than those carrying fl/fl alleles (6.3 ± 1.6 cm/year vs 3.4 ± 0.5 cm/year;P < 0.05).Conclusions The polymorphism in GHR Ex3 is associated with the responsiveness to rhGH treatment,showing that the growth velocity in ISS children with d3 /d3 genotype is significantly higher than those with fl/fl genotype.