Gene polymorphisms in leptin and its receptor and the response to growth hormone treatment in patients with idiopathic growth hormone deficiency
- Abstract
- 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.
- All Author(s)
- I. T. Hwang
; M. Kim
; N. Y. Kim
; J. S. Yoon
; H. J. Lee
; H. R. Jeong
; Y. S. Shim
; M. J. Kang
- Issued Date
- 2021
- Type
- Article
- Keyword
- Leptin; Leptin receptor; Polymorphism; Growth hormone deficiency
- ISSN
- 0918-8959
- Citation Title
- Endocrine Journal
- Citation Volume
- 68
- Citation Number
- 8
- Citation Start Page
- 889
- Citation End Page
- 895
- Language(ISO)
- eng
- DOI
- 10.1507/endocrj.EJ20-0788
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/2325
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