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A common promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and fat mass in obese girls

Academic Article
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Overview

authors

  • Le Stunff, C.
  • Le Bihan, C.
  • Schork, Nicholas
  • Bougneres, P.

publication date

  • December 2000

journal

  • Diabetes  Journal

abstract

  • Mutations in the leptin gene lead to rare obese syndromes of Mendelian inheritance in humans and rodents. However, no relevant mutations are found in the coding region of leptin gene DNA in patients with common multifactorial obesity. These obese patients tend to have an elevation of serum leptin proportional to their adiposity but with a rather wide dispersion of leptin levels for a given body fat content, which in part is attributable to sexual dimorphism. The current study, performed in two independent Caucasian cohorts of obese girls, shows that a frequent promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and body fatness. Girls of comparable adiposity have different circulating leptin levels, depending on their genotype at this locus. Girls with the -/- Lep -2,549 genotype have 25% lower mean leptin levels than the girls with other genotypes, as reflected by differences in the regression slopes of leptin-to-fat mass. Therefore, genetic factors related to the leptin gene may be important in defining the set point of obese individuals (i.e., the circulating leptin level for a given degree of body fatness). This definition may be of both physiological and therapeutic relevance, although a phenotypic association with an individual single-nucleotide polymorphism is not sufficient to assign function to this particular nucleotide site.

subject areas

  • Adipose Tissue
  • Adolescent
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Leptin
  • Obesity
  • Organ Size
  • Promoter Regions, Genetic
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Identity

International Standard Serial Number (ISSN)

  • 0012-1797

Digital Object Identifier (DOI)

  • 10.2337/diabetes.49.12.2196

PubMed ID

  • 11118025
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Additional Document Info

start page

  • 2196

end page

  • 2200

volume

  • 49

issue

  • 12

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