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Study of the leptin levels and its gene polymorphisms in patients with idiopathic short stature and growth hormone deficiency

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Abstract

Leptin levels may regulate fat metabolism, skeletal growth, and puberty. Leptin gene variants affect risk of obesity, cancer, but their effect on onset of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is unknown. We tested the hypothesis that the phenotype of GHD and ISS may be associated with polymorphism in the leptin gene. The prevalence of a single nucleotide polymorphism (SNP) in the leptin gene (LEP) promoter at −2548 and the leptin and insulin growth factor-1 (IGF-1) concentrations in GHD and ISS were compared to those of healthy controls. IGF-1 and leptin concentrations were significantly lower in both the GHD and ISS groups than in the control group. The ISS and GHD groups had a significantly different distribution of SNP alleles at the LEP −2548 (P = 0.010). Individuals with LEP −2548A/G or G/G genotype in ISS group (47.5%) showed a significantly lower weight and body mass index (BMI) (but not leptin levels) than individuals carrying the A/A genotype (52.5%). LEP −2548A/A in GHD patients (65.8%) was associated with lower weight, BMI, leptin concentrations than those of individuals carrying the A/G or G/G genotype (34.2%). These data suggest that the LEP −2548A polymorphism may associate with the weight and BMI of the children with ISS and GHD.

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Abbreviations

BMI:

Body mass index

CDGP:

Constitutional delayed growth and puberty

GHD:

Growth hormone deficiency

IGF-1:

Insulin growth factor-1

ISS:

Idiopathic short stature

LEP:

Leptin

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Acknowledgments

This study was supported by a research grant from Chung Shan Medical University Hospital, Taiwan (CSH-2011-C-021).

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, No. 110 Chien-Kuo N. Road, Sec. 1, Taichung, 402, Taiwan

    Pen-Hua Su, Ju-Shan Yu, Suh-Jen Chen & Jia-Yuh Chen

  2. School of Medicine, Chung Shan Medical University, Taichung, Taiwan

    Pen-Hua Su & Jia-Yuh Chen

  3. Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan

    Shun-Fa Yang

  4. Department of Medical Research, Chung Shan Medical University Hospital, Taichung, Taiwan

    Shun-Fa Yang

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  1. Pen-Hua Su
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Correspondence to Jia-Yuh Chen.

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Su, PH., Yang, SF., Yu, JS. et al. Study of the leptin levels and its gene polymorphisms in patients with idiopathic short stature and growth hormone deficiency. Endocrine 42, 196–204 (2012). https://doi.org/10.1007/s12020-012-9632-0

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  • DOI: https://doi.org/10.1007/s12020-012-9632-0

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