A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women

Hum Genet. 2001 Mar;108(3):233-6. doi: 10.1007/s004390100468.


The human leptin (obese) receptor gene contains a number of single nucleotide polymorphisms, including GLN223ARG, which changes an amino acid on the extracellular region common to all isoforms of the receptor. Here, we demonstrate that, in postmenopausal Caucasian women, genotypes at that locus are associated with differences in body mass index (BMI), fat mass and serum leptin levels. Measurement of serum leptin-binding activity indicates that this may reflect changed receptor function associated with genotype. These observations indicate that functional variations in the leptin receptor gene are important factors in the regulation of adiposity and BMI.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipose Tissue / metabolism*
  • Aged
  • Analysis of Variance
  • Binding, Competitive
  • Body Mass Index
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • DNA / genetics
  • Female
  • Genotype
  • Humans
  • Leptin / blood*
  • Leptin / metabolism
  • Polymorphism, Single Nucleotide*
  • Postmenopause
  • Receptors, Cell Surface*
  • Receptors, Leptin
  • White People / genetics


  • Carrier Proteins
  • LEPR protein, human
  • Leptin
  • Receptors, Cell Surface
  • Receptors, Leptin
  • DNA