title: The involvement of serotonin polymorphisms in autistic spectrum symptomatology.
abstract: BACKGROUND
  Autism spectrum disorders (ASD) are highly inherited developmental syndromes, resulting from a complex interaction between environmental and genetic factors. To date, only a limited number of genetic variants have been discovered with respect to autism, and their contribution to the development of the disorder has not been clearly determined. Investigation of specific autistic symptomatology may improve the chances of identifying related genes and may help to better understand these disorders.
  
  
  METHODS
  We investigated the contribution of 80 genetic variants in 15 serotonin genes to ASD phenotypes [intelligence quotation (IQ), intellectual disability (ID) and language onset delay (LD)] in a cohort of 141 children and young adults (121 male patients and 20 female patients, average age 14.5±5.1 years).
  
  
  RESULTS
  Two polymorphisms in the HTR2B gene, rs10194776 and rs16827801, were associated with IQ (P=0.0004 and 0.003, respectively), ID (P=0.02 and 0.03) and LD (P=0.04 and 0.004). Nominal associations were also detected between the ASD phenotypes investigated and 5-HT2A, 5-HT4 and 5-HT6 genetic variants.
  
  
  CONCLUSIONS
  Our study provides evidence of the contribution of serotonergic variants to IQ, ID and LD in ASD patients.
authors.affiliation: aDepartment of Child Psychiatry bFundació Docència i Recerca Mútua Terrassa, Hospital Universitari Mútua Terrassa cDepartment of Genetics, University of Barcelona dInstitut de Biomedicina de la Universitat de Barcelona (IBUB) eBiomedical Network Research Centre on Rare Diseases (CIBERER) fPsychiatric Genetics Unit, Vall d"Hebron Research Institute (VHIR) gNational Center for Genome Analysis (CNAG) hDepartment of Psychiatry, Hospital Sant Joan de Deu iDepartment of Psychiatry, Hospital Santa Creu i Sant Pau, Barcelona, Spain jDepartment of Neuroscience, Institute of Psychiatry, King's College London, London, UK.
authors.forename: Amaia
authors.initials: A
authors.lastname: Hervás
authors.forename: Claudio
authors.initials: C
authors.lastname: Toma
authors.forename: Patricia
authors.initials: P
authors.lastname: Romarís
authors.forename: Marta
authors.initials: M
authors.lastname: Ribasés
authors.forename: Marta
authors.initials: M
authors.lastname: Salgado
authors.forename: Mònica
authors.initials: M
authors.lastname: Bayes
authors.forename: Noemí
authors.initials: N
authors.lastname: Balmaña
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Marta
authors.initials: M
authors.lastname: Maristany
authors.forename: Silvina
authors.initials: S
authors.lastname: Guijarro
authors.forename: María J
authors.initials: MJ
authors.lastname: Arranz
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012701:Serotonin / Q000235:genetics*; D013223:Statistics as Topic; D055815:Young Adult
chemical_list: D012701:Serotonin