Human Genetics

, Volume 108, Issue 3, pp 233–236 | Cite as

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

  • Naomi Quinton
  • Allison Lee
  • Richard Ross
  • Richard Eastell
  • Alexandra Blakemore
Original Investigation

Abstract.

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.

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Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Naomi Quinton
    • 1
  • Allison Lee
    • 3
  • Richard Ross
    • 3
  • Richard Eastell
    • 3
  • Alexandra Blakemore
    • 2
  1. 1.Biomedical Research Centre, Sheffield Hallam University, Pond Street, Sheffield, S1 1WB, UK
  2. 2.Kennedy Galton Centre, Level 8V, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK
  3. 3.Division of Clinical Sciences (N.G.H.T.), University of Sheffield, Northern General Hospital, Sheffield, S5 7AU, UK

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