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Association of aden...
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
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Zhou, Xiao-Lei (author)
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- Giacobini, MaiBritt (author)
- Karolinska Institutet
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- Anderlid, Britt-Marie (author)
- Karolinska Institutet
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- Anckarsäter, Henrik, 1966 (author)
- Lund University,Lunds universitet,Rättspsykiatri, Malmö,Forskargrupper vid Lunds universitet,Forensic Psychiatry, Malmö,Lund University Research Groups
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Omrani, Davood (author)
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- Gillberg, Christopher, 1950 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Nordenskjöld, Magnus (author)
- Karolinska Institutet
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- Lindblom, Annika (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2007
- 2007
- English.
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In: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 144B:3, s. 351-354
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Keyword
- Adolescent
- Adult
- Autistic Disorder
- Genetics
- Case-Control Studies
- Child
- Child
- Preschool
- Female
- Gene Frequency
- Genes
- APC
- Genetic Linkage
- Genotype
- Humans
- Male
- Middle Aged
- Polymorphism
- Single Nucleotide
- Retrospective Studies
- autism spectrum disorder (ASD)
- haplotype
- SNP
- association
Publication and Content Type
- ref (subject category)
- art (subject category)
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