title: Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.
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).
authors.affiliation: Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
authors.forename: Lauren A
authors.initials: LA
authors.lastname: Weiss
authors.forename: Gülüm
authors.initials: G
authors.lastname: Kosova
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Delahanty
authors.forename: Lan
authors.initials: L
authors.lastname: Jiang
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Cook
authors.forename: Carole
authors.initials: C
authors.lastname: Ober
authors.forename: James S
authors.initials: JS
authors.lastname: Sutcliffe
mesh_terms: D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics*; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D012701:Serotonin / Q000097:blood*; D012737:Sex Factors
chemical_list: C061248:ITGB3 protein, human; D039661:Integrin beta3; D012701:Serotonin