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

Zhou, Xiao-Lei ; Giacobini, MaiBritt ; Anderlid, Britt-Marie ; Anckarsäter, Henrik LU ; Omrani, Davood ; Gillberg, Christopher ; Nordenskjold, Magnus and Lindblom, Annika (2007) In American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144B(3). p.351-354
Abstract
We serendipitously identified a single nucleotide polymorphism (SNP), 8636C > A (rs1804197) in the T-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... (More)
We serendipitously identified a single nucleotide polymorphism (SNP), 8636C > A (rs1804197) in the T-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. (Less)
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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
autism spectrum disorder (ASD), haplotype, APC, SNP, association
in
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
volume
144B
issue
3
pages
351 - 354
publisher
International Society of Psychiatric Genetics
external identifiers
  • wos:000245686600016
  • scopus:34247364965
ISSN
1552-4841
DOI
10.1002/ajmg.b.30415
language
English
LU publication?
yes
id
cf42d110-292b-4b11-aaa0-31fb5ac0d228 (old id 666185)
date added to LUP
2016-04-01 11:41:25
date last changed
2022-01-26 08:44:58
@article{cf42d110-292b-4b11-aaa0-31fb5ac0d228,
  abstract     = {{We serendipitously identified a single nucleotide polymorphism (SNP), 8636C > A (rs1804197) in the T-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.}},
  author       = {{Zhou, Xiao-Lei and Giacobini, MaiBritt and Anderlid, Britt-Marie and Anckarsäter, Henrik and Omrani, Davood and Gillberg, Christopher and Nordenskjold, Magnus and Lindblom, Annika}},
  issn         = {{1552-4841}},
  keywords     = {{autism spectrum disorder (ASD); haplotype; APC; SNP; association}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{351--354}},
  publisher    = {{International Society of Psychiatric Genetics}},
  series       = {{American Journal of Medical Genetics Part B: Neuropsychiatric Genetics}},
  title        = {{Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)}},
  url          = {{http://dx.doi.org/10.1002/ajmg.b.30415}},
  doi          = {{10.1002/ajmg.b.30415}},
  volume       = {{144B}},
  year         = {{2007}},
}