Study of leptin levels and gene polymorphisms in patients with central precocious puberty

Su, Pen‐Hua; Yang, Shun‐Fa; Yu, Ju-Shan; Chen, Suh-Jen; Chen, Jia-Yuh

doi:10.1038/pr.2011.69

Cited by 14 publications

(14 citation statements)

References 29 publications

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“…Previous investigations have also identified mutations in LEPR that were linked to differences in age at menarche in humans [23]. However, this mutation was not associated with central precocious puberty in girls [24], consistent with disruption of the leptin pathway potentially being detrimental to attainment of puberty, as was observed in the present study. Mutations in LEP resulting in leptin deficiency have also been associated with failure to undergo puberty and with obesity [25], and a rare mutation in LEP hypothesized to increase its bioactivity was associated with a thin body type and delayed puberty [26].…”

Section: Discussionsupporting

confidence: 86%

Single-Nucleotide Polymorphisms in the LEPR Gene Are Associated with Divergent Phenotypes for Age at Onset of Puberty in Davisdale Ewes1

Haldar¹,

French

Bräuning

et al. 2014

Biology of Reproduction

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Attainment of puberty is a key developmental event influenced by genetic and environmental factors. In examining age at attainment of puberty, we observed closely related rams from the Davisdale line whose daughters differed in age at which they attained puberty. A candidate gene approach was used to identify mutations that may underlie these observed differences. Four rams with divergent phenotypes for their daughter's age at onset of puberty were selected for whole-genome sequencing. The coding regions of genes with known roles in regulating reproductive function were searched for single-nucleotide polymorphisms (SNPs) that altered the amino acid sequence of the protein. Of interest were three SNPs in the leptin receptor gene (LEPR). A Sequenom assay was developed to determine the genotype of these SNPs in daughters of 17 sons of a founding sire. A higher percentage of ewe lambs homozygous for the LEPR mutations failed to undergo puberty before 1 yr of age, and those that did undergo puberty during the first breeding season on average were approximately 17 days older than homozygous wild-type ewes. Heterozygous ewes were intermediate for both measurements. Given the predicted change in protein function produced by the mutation in LEPR and the strong associations between the genotype and onset of puberty phenotypes, we propose that this mutation in LEPR underlies the observed difference in age at onset of puberty in the Davisdale line. Furthermore, these animals will likely provide a useful model to better understand the role of leptin in the regulation of puberty.

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Section: Discussionsupporting

confidence: 86%

Single-Nucleotide Polymorphisms in the LEPR Gene Are Associated with Divergent Phenotypes for Age at Onset of Puberty in Davisdale Ewes1

Haldar¹,

French

Bräuning

et al. 2014

Biology of Reproduction

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“…Increasing BMI is associated with the deposition of excess fat in adipose tissue, this condition may affect levels of LEP which are mostly secreted by adipose tissue as previously reported by other [Alves et al 2016]. The results of other studies indicated that the average BMI in the LEP-2548G/A polymorphism was 23.6±0.6 for GG+GA and 22.9±1 for AA genotypes [Yiannakouris et al 2003;Su et al 2012;Hoffstedt et al 2002]. In addition, the average BMI in the LEPR Gln223Arg polymorphism was 22.3±0.5 for QQ, 21.8 ±0.5 for QR and 24.8±1.1 for RR genotypes [Yiannakouris et al 2001].…”

Section: Resultsmentioning

confidence: 55%

“…One of the common promoter region polymorphisms of the LEP gene is -2548G/A (rs7799039). Previous studies have reported significant associations between this polymorphism, and circulating LEP and LH concentrations, adipose tissue LEP mRNA, and secretion levels [Yiannakouris et al 2003;Su et al 2012;Hoffstedt et al 2002]. Moreover, 668A/G is the LEPR gene polymorphism in which adenine (A) at position 668 is substituted by guanine (G).…”

Section: Introductionmentioning

confidence: 99%

Leptin and leptin-receptor polymorphisms in fertile and infertile men

Khosropour

Hamidi

Fattahi

et al. 2016

Systems Biology in Reproductive Medicine

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“…Our results suggest that the known variants in the genes of the IGF-1 axis play minor roles in the timing of elevation of IGF-1 and IGFBP-3 protein levels during puberty, similar to the role that SNPs in IGF-1 axis genes play in breast cancer [ 35 ]. In a similar manner, although the CPP group had significantly higher leptin levels than the control group, the differences in timing and expression level of leptin could not be explained by single nucleotide polymorphisms in either leptin or the leptin receptor [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls

et al. 2018

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BackgroundInsulin and insulin-like growth factor (IGF)-1 coupled with growth hormone helps control timing of sexual maturation. Mutations and variants in multiple genes are associated with development or reduced risk of central precocious puberty (CPP).MethodsWe assessed single nucleotide polymorphisms (SNPs) in the IGF-1, IGF-2, IGF-3, IGF-1 receptor (IGF1R), IGF-2 receptor (IGF2R), and IGF -binding protein 3 (IGFBP-3) genes, and their association with demographics and metabolic proteins in girls with CPP. Z-scores of height, weight, and body mass index (BMI) were calculated with the WHO reference growth standards for children.ResultsIGF-1 serum levels of CPP group exhibited a higher correlation with bone age, z-scores of height and weight, and luteinizing hormone (LH) than those of control group, regardless of BMI adjustment. In the CPP group, height was associated with IGF-2(3580), an adenine to guanine (A/G) SNP at position + 3580. BMI in the CPP group was associated with IGF-2(3580), IGF1R, and the combinations of [IGF-2(3580) + IGF2R], and [IGF-2(3580) + IGFBP-3]. Body weight in the CPP group was associated with the combination of [IGF-2(3580) + IGFBP-3] (p = 0.024). Weight and BMI were significantly associated with the combination of [IGF-2(3580) + IGF2R + IGFBP-3] in the CPP group. These associations were not significantly associated with z-scores of weight, height, or BMI. The distribution of these genotypes, haplotypes, and allele frequencies were similar between control and CPP groups.ConclusionsThese known SNPs of these IGF-1 axis genes appear to play minor roles in the risk for development of CPP.Electronic supplementary materialThe online version of this article (10.1186/s12902-018-0271-1) contains supplementary material, which is available to authorized users.

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Study of leptin levels and gene polymorphisms in patients with central precocious puberty

Cited by 14 publications

References 29 publications

Single-Nucleotide Polymorphisms in the LEPR Gene Are Associated with Divergent Phenotypes for Age at Onset of Puberty in Davisdale Ewes1

Single-Nucleotide Polymorphisms in the LEPR Gene Are Associated with Divergent Phenotypes for Age at Onset of Puberty in Davisdale Ewes1

Leptin and leptin-receptor polymorphisms in fertile and infertile men

Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls

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