title: The Relationship Between Gene Polymorphism of Leptin and Leptin Receptor and Growth Hormone Deficiency.
abstract: BACKGROUND Growth 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 AND METHODS A 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. RESULTS The 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. CONCLUSIONS Gene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs1137101) are correlated with GHD susceptibility.
authors.affiliation: Department of Pediatrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University , Zhangzhou, Fujian, China (mainland).
authors.forename: Jinshui
authors.initials: J
authors.lastname: He
authors.affiliation: Department of Pediatrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University , Zhangzhou, Fujian, China (mainland).
authors.forename: Yanling
authors.initials: Y
authors.lastname: Fang
authors.affiliation: Department of Pediatrics, Fujian Provincial Hospital, Fuzhou, Fujian, China (mainland).
authors.forename: Xinfu
authors.initials: X
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, Fujian, China (mainland).
authors.forename: Huowang
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Department of Pediatrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, Fujian, China (mainland).
authors.forename: Shaobo
authors.initials: S
authors.lastname: Zhu
authors.affiliation: Department of Pediatrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, Fujian, China (mainland).
authors.forename: Yugui
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Laboratory Medicine, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, Fujian, China (mainland).
authors.forename: Huicong
authors.initials: H
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University , Zhangzhou, Fujian, China (mainland).
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Ye
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D020738:Leptin / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054411:Receptors, Leptin / Q000235:genetics*
chemical_list: D020738:Leptin; D054411:Receptors, Leptin; D013006:Growth Hormone