| Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. | |
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MedLine Citation:
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PMID: 18664314 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Autism is a severe neurodevelopmental disorder of early childhood. Genetic factors play an important role in the aetiology of the disorder. In this study, we considered the NRCAM gene as a candidate gene of autism. This gene is expressed in the central nervous system and located in the 7q region, a susceptibility locus of autism. We conducted a case-control study of 18 single nucleotide polymorphisms (SNPs) within the NRCAM gene for possible association with autism in 170 autistic patients and 214 normal controls in a Japanese population. Seven SNPs in the NRCAM gene were significantly associated with autism, among which rs2300045 indicated the most prominent result (p=0.0009 uncorrected, p=0.017 corrected). In haplotype analyses, several individual haplotypes, including a common NRCAM haplotype C-T-T-C-T-T-G-C for rs3763463, rs1859767, rs1034825, rs2300045, rs2300043, rs2300039, rs722519, and rs2216259, showed a significant association after Bonferroni correction (p=0.0035 uncorrected, p=0.028 corrected). These haplotypes were located in the 5' intron-2 region of the gene. In addition, we also assessed the above mentioned SNPs and haplotypes using the transmission disequilibrium test with 148 trios of autistic families. Haplotype G-T-T-T-T-C-G-C in the same eight SNPs was also associated with autism. In summary, our findings provide evidence for a significant association of NRCAM with autism. Considering the important role of the NRCAM gene in brain development, our results therefore indicated that the NRCAM gene is one of the strong candidate genes for autism. |
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Authors:
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Tetsuya Marui; Ikuko Funatogawa; Shinko Koishi; Kenji Yamamoto; Hideo Matsumoto; Ohiko Hashimoto; Eiji Nanba; Hisami Nishida; Toshiro Sugiyama; Kiyoto Kasai; Keiichiro Watanabe; Yukiko Kano; Tsukasa Sasaki; Nobumasa Kato |
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Publication Detail:
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Type: Journal Article Date: 2008-07-30 |
Journal Detail:
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Title: The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) Volume: 12 ISSN: 1461-1457 ISO Abbreviation: Int. J. Neuropsychopharmacol. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2008-12-18 Completed Date: 2009-03-13 Revised Date: 2009-06-07 |
Medline Journal Info:
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Nlm Unique ID: 9815893 Medline TA: Int J Neuropsychopharmacol Country: England |
Other Details:
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Languages: eng Pagination: 1-10 Citation Subset: IM |
Affiliation:
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Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan. PXX03135@nifty.ne.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Alleles Autistic Disorder / epidemiology*, genetics* Case-Control Studies Cell Adhesion Molecules / genetics* Child Child, Preschool Data Interpretation, Statistical Female Genetic Variation Haplotypes Humans Japan / epidemiology Linkage Disequilibrium Male Middle Aged Odds Ratio Polymorphism, Single Nucleotide Psychiatric Status Rating Scales Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Cell Adhesion Molecules; 0/NRCAM protein, human |
| Comments/Corrections | |
Erratum In:
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Int J Neuropsychopharmacol. 2009 Apr;12(3):439 Note: Sasaki, Tsukasa [added] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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