Serotonin transporter regulatory region polymorphism is associated with anorexia nervosa

Abstract 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 ≥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. © 2004 Wiley‐Liss, Inc.