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

Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C, Sutcliffe JS
Eur J Hum Genet. 2006 14 (8): 923-31

PMID: 16724005 · DOI:10.1038/sj.ejhg.5201644

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).

MeSH Terms (15)

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

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