Genetics of leptin and obesity: A HuGE review

Valentina Paracchini, Paola Pedotti, Emanuela Taioli

Research output: Contribution to journalReview articlepeer-review

252 Scopus citations


Leptin is an important regulator of the mass of adipose tissue and of body weight; it operates by inhibiting food intake and stimulating energy expenditure. Some polymorphic genes involved in the regulation of leptin - the leptin gene (LEP A19G), the leptin receptor gene (LEPR Q223R, K109R, and K656N), and the peroxisome proliferator-activated receptor-gamma gene (PPARG P12A and C161T) - have been investigated as possible factors associated with obesity. Allelic frequencies of these polymorphisms show ethnic variation. The authors performed a meta-analysis of the available data on the association between these polymorphisms and obesity based on case-control studies. Odds ratios and 95% confidence intervals for obesity associated with leptin polymorphisms were calculated by using both fixed- and random-effects models. Results suggest no evidence of association between the genes under study and obesity. The lack of association could be due to the complex pathogenesis of obesity, which involves a number of genetic and environmental factors. Large studies including testing of multiple genes in both obese and lean subjects, with epidemiologic data on dietary habits in different ethnic groups, are necessary to better understand the role of leptin in regulating weight in human populations.

Original languageEnglish
Pages (from-to)101-114
Number of pages14
JournalAmerican Journal of Epidemiology
Issue number2
StatePublished - Jul 2005
Externally publishedYes


  • Epidemiology
  • Genetics
  • LEP
  • LEPR
  • Leptin
  • Meta-analysis
  • Obesity


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