Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility

Eur J Hum Genet. 2006 Aug;14(8):923-31. doi: 10.1038/sj.ejhg.5201644. Epub 2006 May 17.

Abstract

Autism is a pervasive developmental disorder affecting more males than females. Heritability estimates for autism can rise above 90%, and genes influencing the serotonin system are strong candidates for autism susceptibility genes, as drugs selectively acting on the serotonin system are some of the most effective treatments for maladaptive behaviors seen in autism. ITGB3 was recently identified as a male quantitative trait locus (QTL) for whole-blood serotonin levels in the Hutterites (P = 0.0003). Here, we demonstrate associations between variation in ITGB3 and serotonin levels in two outbred samples (P = 0.010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P = 0.00082), and that this variation has different effects in males and females (P = 0.0018).

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Autistic Disorder / genetics*
  • Case-Control Studies
  • Female
  • Founder Effect
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Integrin beta3 / genetics*
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci*
  • Serotonin / blood*
  • Sex Factors

Substances

  • ITGB3 protein, human
  • Integrin beta3
  • Serotonin