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Åke Lernmark

Principal investigator

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GAD2 on chromosome 10p12 is a candidate gene for human obesity.


  • Philippe Boutin
  • Christian Dina
  • Francis Vasseur
  • Séverine Dubois
  • Laetitia Corset
  • Karin Séron
  • Lynn Bekris
  • Janice Cabellon
  • Bernadette Neve
  • Valérie Vasseur-Delannoy
  • Mohamed Chikri
  • M. Aline Charles
  • Karine Clement
  • Åke Lernmark
  • Philippe Froguel

Summary, in English

The gene GAD2 encoding the glutamic acid decarboxylase enzyme (GAD65) is a positional candidate gene for obesity on Chromosome 10p11-12, a susceptibility locus for morbid obesity in four independent ethnic populations. GAD65 catalyzes the formation of gamma-aminobutyric acid (GABA), which interacts with neuropeptide Y in the paraventricular nucleus to contribute to stimulate food intake. A case-control study (575 morbidly obese and 646 control subjects) analyzing GAD2 variants identified both a protective haplotype, including the most frequent alleles of single nucleotide polymorphisms (SNPs) +61450 C>A and +83897 T>A (OR = 0.81, 95% CI [0.681-0.972], p = 0.0049) and an at-risk SNP (-243 A>G) for morbid obesity (OR = 1.3, 95% CI [1.053-1.585], p = 0.014). Furthermore, familial-based analyses confirmed the association with the obesity of SNP +61450 C>A and +83897 T>A haplotype (chi(2) = 7.637, p = 0.02). In the murine insulinoma cell line betaTC3, the G at-risk allele of SNP -243 A>G in

Publishing year





PLoS Biology





Document type

Journal article


Public Library of Science


  • Biological Sciences




  • ISSN: 1545-7885