Leptin gene polymorphisms and their phenotypic associations

T. van der Lende, M.F.W. te Pas, R.F. Veerkamp, S.C. Liefers

Research output: Contribution to journalArticleAcademicpeer-review

42 Citations (Scopus)


In an era of rapidly increasing prevalence of human obesity and associated health problems, leptin gene polymorphisms have drawn much attention in biomedical research. Leptin gene polymorphisms have furthermore drawn much attention from animal scientists for their possible roles in economically important production and reproduction traits. Of the polymorphisms reported for exonic, intronic, and promoter regions of the leptin gene, 16 have been included in association studies in humans, 19 in cattle, and 6 (all exonic or intronic) in pigs. In humans, associations have been found with overweight or (early-onset) obesity, non-insulin-dependent diabetes mellitus, prostate cancer, and non-Hodgkin’s lymphoma. In cattle, associations have been found with feed intake, milk yield traits, carcass traits, and reproduction-related traits, and in pigs with feed intake, average daily gain, carcass traits (backfat/leanness), and reproduction performance traits. Many of the polymorphisms were only included in a limited number of association studies, or the phenotypes studied varied largely for a given polymorphism between studies. Therefore, many of the associations found for these polymorphisms need to be confirmed in future studies before firm conclusions can be drawn.
Original languageEnglish
Pages (from-to)373-404
JournalVitamins and Hormones-Advances in Research and Applications
Publication statusPublished - 2005


  • human ob gene
  • human obese gene
  • binding protein-alpha
  • single nucleotide polymorphism
  • hypoxia-inducible factor-1
  • 5' untranslated region
  • body-mass index
  • ob/ob mice
  • missense mutation
  • adipose-tissue

Fingerprint Dive into the research topics of 'Leptin gene polymorphisms and their phenotypic associations'. Together they form a unique fingerprint.

  • Cite this