title: Association and Promoter Analysis of AVPR1A in Finnish Autism Families.
abstract: The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism.
authors.affiliation: From the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Katri
authors.initials: K
authors.lastname: Kantojärvi
authors.affiliation: From the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.|Department of Biosciences, University of Helsinki, Helsinki, Finland.
authors.forename: Jaana
authors.initials: J
authors.lastname: Oikkonen
authors.affiliation: From the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Ilona
authors.initials: I
authors.lastname: Kotala
authors.affiliation: From the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Jenni
authors.initials: J
authors.lastname: Kallela
authors.affiliation: The Department of Child Neurology, University of Helsinki, Helsinki, Finland (R.V.).
authors.forename: Raija
authors.initials: R
authors.lastname: Vanhala
authors.affiliation: Department of Biosciences, University of Helsinki, Helsinki, Finland.
authors.forename: Päivi
authors.initials: P
authors.lastname: Onkamo
authors.affiliation: From the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Irma
authors.initials: I
authors.lastname: Järvelä
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D005190:Family; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017483:Receptors, Vasopressin / Q000235:genetics*
chemical_list: C000599871:AVPR1A protein, human; D017483:Receptors, Vasopressin
keywords: AVPR1A; MEF2C; PBX; association; autism; network analysis; promoter analysis; transcription factors