Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
- 12 January 2007
- journal article
- research article
- Published by Wiley in American Journal Of Medical Genetics Part B-Neuropsychiatric Genetics
- Vol. 144B (3) , 351-354
- https://doi.org/10.1002/ajmg.b.30415
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.Keywords
This publication has 19 references indexed in Scilit:
- The tumor suppressor adenomatous polyposis coli gene is associated with susceptibility to schizophreniaMolecular Psychiatry, 2005
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004
- Lack of evidence for an association between WNT2 and RELN polymorphisms and autismAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2003
- Pedigree disequilibrium tests for multilocus haplotypesGenetic Epidemiology, 2003
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003
- Neuronal localization of the adenomatous polyposis coli tumor suppressor proteinNeuroscience, 1999
- Upregulation of theAPCGene Product during Neuronal Differentiation of Rat Pheochromocytoma PC12 CellsBiochemical and Biophysical Research Communications, 1996
- Autism as a strongly genetic disorder: evidence from a British twin studyPsychological Medicine, 1995
- High levels of expression of the tumor suppressor gene APC during development of the rat central nervous systemJournal of Neuroscience, 1994
- Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.Journal of Medical Genetics, 1994