title: Study of the leptin levels and its gene polymorphisms in patients with idiopathic short stature and growth hormone deficiency.
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.
authors.affiliation: Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, No. 110 Chien-Kuo N. Road, Sec. 1, Taichung, 402, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Shun-Fa
authors.initials: SF
authors.lastname: Yang
authors.forename: Ju-Shan
authors.initials: JS
authors.lastname: Yu
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
mesh_terms: D000365:Age Determination by Skeleton; D000367:Age Factors; D001827:Body Height / Q000235:genetics / Q000502:physiology; D015992:Body Mass Index; D001835:Body Weight / Q000235:genetics / Q000502:physiology; D002648:Child; D004392:Dwarfism / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006130:Growth Disorders / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000032:analysis / Q000378:metabolism; D020738:Leptin / Q000097:blood* / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000502:physiology
chemical_list: D020738:Leptin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I