title: Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.
abstract: OBJECTIVE
  Several genome-wide screens have been performed in autism spectrum disorders resulting in the identification of numerous putative susceptibility loci. Analyses of pooled primary data should result in an increased sample size and the different study samples have a potential to strengthen the evidence for some earlier identified loci, reveal novel loci, and even to provide information of the general significance of the locus. The objective of this study was to search for potential susceptibility loci for autism, which are supported by two independent samples.
  
  
  METHODS
  We performed a combined analysis of the primary genome scan data of the Autism Genetic Resource Exchange (AGRE) and Finnish autism samples to reveal susceptibility loci potentially shared by these study samples.
  
  
  RESULTS
  In the initial combined data analysis, the best loci (p < 0.05) were observed at 1p12-q25, 3p24-26, 4q21-31, 5p15-q12, 6q14-21, 7q33-36, 8q22-24, 17p12-q21, and 19p13-q13. The combined analysis of Finnish and AGRE families showed the most promising shared locus on 3p24-26 with nonparametric logarithm of odds (NPL) score of 2.20 (p = 0.011). The combined data analysis did not provide increased linkage evidence for the earlier identified loci on 3q25-27 or 17p12-q21. However, the 17p12-q21 locus remained promising also in the combined sample (NPL(all) =2.38, p = 0.0076).
  
  
  CONCLUSIONS
  Our study of 314 autism families highlights the importance of further analyses on 3p24-26 locus involving comprehensive molecular genetic analyses of oxytocin receptor gene (OXTR), a positional and functional candidate gene for autism.
authors.affiliation: Department of Molecular Medicine, National Public Health Institute, University of Helsinki, 00251 Helsinki, Finland.
authors.forename: Tero
authors.initials: T
authors.lastname: Ylisaukko-oja
authors.forename: Maricela
authors.initials: M
authors.lastname: Alarcón
authors.forename: Rita M
authors.initials: RM
authors.lastname: Cantor
authors.forename: Mari
authors.initials: M
authors.lastname: Auranen
authors.forename: Raija
authors.initials: R
authors.lastname: Vanhala
authors.forename: Elli
authors.initials: E
authors.lastname: Kempas
authors.forename: Lennart
authors.initials: L
authors.lastname: von Wendt
authors.forename: Irma
authors.initials: I
authors.lastname: Järvelä
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Geschwind
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics*; D002877:Chromosomes, Human; D005387:Finland; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008403:Mass Screening; D018045:Receptors, Oxytocin / Q000235:genetics
chemical_list: D018045:Receptors, Oxytocin