Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)

We serendipitously identified a single nucleotide
polymorphism (SNP), 8636C>A (rs1804197) in
the 30-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
(P¼0.006) and COCAPHASE v2.403 (P¼0.030).
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.