title: Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
abstract: We serendipitously identified a single nucleotide polymorphism (SNP), 8636C>A (rs1804197) in the 3'-untranslated region of the adenomatous polyposis coli (APC) gene to be associated with autism spectrum disorder (ASD). In order to gain further evidence for the association between the APC locus and ASD, we genotyped four additional adjacent common SNPs (rs2229992, rs42427, rs459552, and rs465899) in the coding regions within the APC gene in a set of Swedish ASDs and controls. One common haplotype TGAG was found to be associated with ASD after haplotype analysis using both Haploview v3.1.1 (P = 0.006) and COCAPHASE v2.403 (P = 0.030). This result is the first to suggest that the genomic locus at APC is associated with ASD, and that the APC gene itself is a good predisposing candidate to be evaluated in future studies due to its important role in neuronal development and function.
authors.affiliation: Department of Clinical Genetics, CMM, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Xiao-Lei
authors.initials: XL
authors.lastname: Zhou
authors.forename: MaiBritt
authors.initials: M
authors.lastname: Giacobini
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.forename: Henrik
authors.initials: H
authors.lastname: Anckarsäter
authors.forename: Davood
authors.initials: D
authors.lastname: Omrani
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D017491:Genes, APC; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies