The Relationship Between Gene Polymorphism of Leptin and Leptin Receptor and Growth Hormone Deficiency

Abstract

BackgroundsGrowth hormone deficiency (GHD) is a major cause of congenital short stature. GHD patients have significantly decreased serum leptin levels, which are regulated by gene polymorphism of leptin and leptin receptor. This study thus investigated the relationship between gene polymorphism and susceptibility to GHD.Material/MethodsA case-control study was performed using 180 GHD children in addition to 160 healthy controls. After the extraction of whole genomic DNA, the genotypes of leptin and leptin receptor gene loci were analyzed by sequencing for single-nucleotide polymorphism.ResultsThe frequency distribution of all alleles identified in leptin gene (loci rs7799039) and leptin receptor gene (loci rs1137100 and rs1137101) fit Hardy-Weinberg equilibrium. There was a significant difference in allele frequency at loci rs7799039 or rs1137101, as individuals with heterozygous GA allele had lower (rs7799039) or higher (rs1137101) GHD risk. No significant difference in allele frequency was discovered at loci rs1137100 (p>0.05), which was unrelated to GHD susceptibility.ConclusionsGene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs1137101) are correlated with GHD susceptibility.

Relationship between IGF-I Concentration and Metabolic Profile in Children with Growth Hormone Deficiency: The Influence of Children’s Nutritional State as well as the Ghrelin, Leptin, Adiponectin, and Resistin Serum Concentrations

“…On the one hand, it included children with GHD of both the pituitary and hypothalamic origins with different etiology; on the other, it is well known that IGF-I concentration depends not only on GH secretion but also on the nutritional status of children (which in turn is conditioned by many different factors). Moreover, concentrations of certain neuropeptides (i.e., ghrelin, leptin, and insulin) also affect IGF-I level [ 9 , 10 , 21 ].…”

“…Moreover, it plays atherogenic, prothrombotic, and angiogenic roles by stimulating vascular inflammation, oxidative stress, and smooth muscle hypertrophy, contributing to pathomechanism of hypertension and atherosclerosis [ 20 ]. In children with GHD, the results of leptin concentrations are divergent [ 7 , 8 , 21 ].…”

Gene polymorphisms in leptin and its receptor and the response to growth hormone treatment in patients with idiopathic growth hormone deficiency

“…To date, various candidate genes and SNPs that could explain the height phenotype have been proposed [2,6,7]. Based on several studies, the leptin and its receptor were also considered among these candidates [8][9][10][11]. The major role of leptin in growth is known to be in the stimulation of proliferation and differentiation of chondrocytes [12].…”