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Association of adenomatous polyposis coli ( APC ) gene polymorphisms with autism spectrum disorder (ASD)
Author(s) -
Zhou XiaoLei,
Giacobini MaiBritt,
Anderlid BrittMarie,
Anckarsäter Henrik,
Omrani Davood,
Gillberg Christopher,
Nordenskjöld Magnus,
Lindblom Annika
Publication year - 2007
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30415
Subject(s) - haplotype , genetics , single nucleotide polymorphism , locus (genetics) , biology , autism spectrum disorder , gene , snp , adenomatous polyposis coli , candidate gene , genotype , autism , medicine , colorectal cancer , cancer , psychiatry
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. © 2006 Wiley‐Liss, Inc.