Serotonin transporter regulatory region polymorphism is associated with anorexia nervosa.

Several lines of evidence support possible serotonin transporter (5-HTT) involvement in modulating eating disorders (ED). The 5-HTT gene is a good candidate for genetic studies on the course of ED, despite controversy concerning the association between polymorphism in the 5-HTT gene promoter region (5-HTTLPR) and ED. Comparison of 5-HTTLPR distribution in 195 female Japanese ED patients and 290 age- and gender-matched control subjects facilitated examining the association between the course of the disease and 5-HTTLPR in 138 of 195 ED subjects. The 5-HTTLPR S allele frequency was significantly higher in subjects with anorexia nervosa (AN) than in control subjects. Among subjects observed > or =3 years, the S allele frequency was significantly higher in those diagnosed as AN at ED onset than in those diagnosed as AN in this study. The 5-HTTLPR S allele might play some role in the development of AN with persistent disease.