Self-injury in autism spectrum disorder: an effect of serotonin transporter gene promoter variants

Psychiatry Res. 2014 Dec 30;220(3):987-90. doi: 10.1016/j.psychres.2014.09.018.


Self-injurious behavior in autism spectrum disorder (ASD) has been associated with lower whole blood serotonin levels and the role of serotonin transporter gene promoter region (5HTTLPR) polymorphisms is of interest because of their effects on transporter functioning. This study examined the association between self-injurious behavior in ASD and allelic frequencies of 5HTTLPR. Sixty-four children and adolescents with ASD who were not taking serotonergic medication at the time of the assessment were included in the analysis. Self-injury was assessed using the Autism Diagnostic Interview-Revised (ADI-R) and whole blood serotonin levels were measured using high-pressure liquid chromatography (HPLC) with fluorometic detection. DNA was extracted from saliva and PCR amplified with fluorescent primers. Self-injury significantly increased with the number of La alleles of the 5HTTLPR and decreased with the number of Lg alleles. Self-injury in ASD may be associated with a specific genotype of the serotonin transporter gene promoter region. Future studies should continue to explore subgroups to clarify the underlying clinical and genetic heterogeneity in ASD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / psychology
  • Child, Preschool
  • Female
  • Gene Frequency / genetics
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Polymorphism, Genetic / genetics
  • Promoter Regions, Genetic / genetics*
  • Self-Injurious Behavior / diagnosis
  • Self-Injurious Behavior / genetics*
  • Self-Injurious Behavior / psychology
  • Serotonin Plasma Membrane Transport Proteins / genetics*


  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins