This study aimed to investigate the relationships between genetic polymorphisms of leptin/receptor genes and clinical/biochemical characteristics in children with growth hormone deficiency (GHD). Ninety-three GHD children and 69 age-matched normal controls were enrolled. Anthropometric measurements, bone age, and laboratory test results were obtained. Polymorphisms in the LEP gene promoter locus (LEP-2548, rs7799039) and LEPR genes (K109R, rs1137100 and Q223R, rs1137101) were analyzed using PCR-RFLP. The serum leptin levels were measured using an ELISA kit. The median height and BMI z-scores of all GHD subjects were –2.20 and –0.26, respectively, and those of normal controls were –0.30 and –0.13, respectively. The serum leptin levels were similar between GHD subjects and normal controls (p = 0.537), but those were different between the complete GHD (6.97 ng/mL) and partial GHD (4.22 ng/mL) groups (p = 0.047). There were no differences in the genotypic distributions of LEP-2548, LEPR K109R, and Q223R between GHD subjects and normal controls. However, GHD subjects with the G allele at LEP-2548 showed higher IGF-1 (p = 0.047) and IGFBP-3 SDSs (p = 0.027) than GHD subjects with the A allele. GHD subjects with the G allele at LEPR Q223R showed lower stimulated GH levels (p = 0.023) and greater height gain after 1 year of GH treatment (p = 0.034) than GHD subjects with the A allele. In conclusion, leptin/leptin receptor genes are suggested to have the role of growth-related factors, which can affect various growth responses in children who share the same disease entity.

本研究旨在探讨生长激素缺乏症（GHD）儿童瘦素/受体基因遗传多态性与临床/生化特征之间的关系。招募了 93 名 GHD 儿童和 69 名年龄匹配的正常对照。获得了人体测量、骨龄和实验室测试结果。LEP基因启动子基因座 (LEP-2548, rs7799039) 和 LEPR中的多态性使用 PCR-RFLP 分析基因（K109R、rs1137100 和 Q223R、rs1137101）。使用ELISA试剂盒测量血清瘦素水平。所有 GHD 受试者的中位身高和 BMI z 分数分别为 –2.20 和 –0.26，正常对照组分别为 –0.30 和 –0.13。GHD 受试者和正常对照组的血清瘦素水平相似 ( p = 0.537)，但完全 GHD (6.97 ng/mL) 和部分 GHD (4.22 ng/mL) 组之间的血清瘦素水平不同 ( p = 0.047)。GHD 受试者和正常对照之间的 LEP-2548、LEPR K109R 和 Q223R 的基因型分布没有差异。然而，在 LEP-2548 具有 G 等位基因的 GHD 受试者显示出更高的 IGF-1 ( p = 0.047) 和 IGFBP-3 SDS ( p= 0.027) 比具有 A 等位基因的 GHD 受试者。与具有 A 等位基因的 GHD 受试者相比，具有 LEPR Q223R 的 G 等位基因的 GHD 受试者在 GH 治疗 1 年后表现出较低的刺激 GH 水平 ( p = 0.023) 和更大的身高增长 ( p = 0.034)。总之，瘦素/瘦素受体基因被认为具有生长相关因子的作用，可以影响具有相同疾病实体的儿童的各种生长反应。