Mutation screen of the brain derived neurotrophic factor gene (BDNF): identification of several genetic variants and association studies in patients with obesity, eating disorders, and attention-deficit/hyperactivity disorder

Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):96-9. doi: 10.1002/ajmg.b.30090.


Several lines of evidence indicate an involvement of brain derived neurotrophic factor (BDNF) in body weight regulation and activity: heterozygous Bdnf knockout mice (Bdnf(+/-)) are hyperphagic, obese, and hyperactive; furthermore, central infusion of BDNF leads to severe, dose-dependent appetite suppression and weight loss in rats. We searched for the role of BDNF variants in obesity, eating disorders, and attention-deficit/hyperactivity disorder (ADHD). A mutation screen (SSCP and DHPLC) of the translated region of BDNF in 183 extremely obese children and adolescents and 187 underweight students was performed. Additionally, we genotyped two common polymorphisms (rs6265: p.V66M; c.-46C > T) in 118 patients with anorexia nervosa, 80 patients with bulimia nervosa, 88 patients with ADHD, and 96 normal weight controls. Three rare variants (c.5C > T: p.T2I; c.273G > A; c.*137A > G) and the known polymorphism (p.V66M) were identified. A role of the I2 allele in the etiology of obesity cannot be excluded. We found no association between p.V66M or the additionally genotyped variant c.-46C > T and obesity, ADHD or eating disorders. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Body Mass Index
  • Brain-Derived Neurotrophic Factor / genetics*
  • Child
  • Chromatography, High Pressure Liquid / methods
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Feeding and Eating Disorders / genetics
  • Gene Frequency
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Mutation*
  • Obesity / genetics
  • Polymorphism, Single Nucleotide
  • Polymorphism, Single-Stranded Conformational


  • Brain-Derived Neurotrophic Factor
  • DNA