Association between 5HT2A receptor gene promoter region polymorphism and eating disorders in Japanese patients

Biol Psychiatry. 2001 Jul 15;50(2):123-8. doi: 10.1016/s0006-3223(00)01107-0.


Background: Evidence from family and twin studies suggests a genetic contribution to the etiology of eating disorders (EDs). Recently, researchers have reported genetic associations between the MspI polymorphism (-1438A/G) of the promoter region of the 5HT2A receptor gene and EDs; however, reports of evidence against these findings make the association controversial.

Methods: The authors examined the prevalence of the -1438A/G polymorphism of the 5HT2A receptor gene among 182 Japanese patients with EDs and 374 normal control subjects. Interactions of the association of this polymorphism with subtypes of anorexia nervosa (AN), bulimia nervosa (BN), and various clinical characteristics were also assessed.

Results: In contrast to previous studies reporting elevated A allele frequencies in patients with AN, the G allele had a significantly higher frequency in patients with BN but not in patients with AN, than in control subjects. Examination of the interactions revealed that the presence of the binge eating and/or purging behavior and comorbid borderline personality disorder (BPD) tended to be associated with increased frequency of the G allele.

Conclusions: Though preliminary, these results can be interpreted as suggesting that the G allele of the 5HT2A receptor gene -1438A/G polymorphism may be associated with pathological features that EDs and BPD have in common, especially disinhibition in eating behavior and personality trait.

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adult
  • Borderline Personality Disorder / complications
  • Case-Control Studies
  • Feeding and Eating Disorders / complications
  • Feeding and Eating Disorders / genetics*
  • Feeding and Eating Disorders / psychology
  • Female
  • Genotype
  • Humans
  • Impulsive Behavior
  • Japan
  • Male
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic
  • Receptors, Serotonin / genetics*


  • Receptors, Serotonin