High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility.
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| Title: | High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility. |
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| Authors: | Maestrini, E., Pagnamenta, A. T., Lamb, J. A., Bacchelli, E., Sykes, N. H., Sousa, I., Toma, C., Barnby, G., Butler, H., Winchester, L., Scerri, T. S., Minopoli, F., Reichert, J., Cai, G., Buxbaum, J. D., Korvatska, O., Schellenberg, G. D., Dawson, G., Bildt, A. de, Minderaa, R. B. |
| Source: | Molecular Psychiatry. Sep2010, Vol. 15 Issue 9, p954-968. 15p. 1 Diagram, 5 Charts, 1 Graph. |
| Subjects: | Autism spectrum disorders, Chromosomes, Disease susceptibility, Genes |
| Geographic Terms: | Europe |
| Abstract: | Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we performed a high-density association analysis in AUTS1 and AUTS5, testing more than 3000 single nucleotide polymorphisms (SNPs) in all known genes in each region, as well as SNPs in non-genic highly conserved sequences. SNP genotype data were also used to investigate copy number variation within these regions. The study sample consisted of 127 and 126 families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Further investigation of the strongest association results was conducted in an independent European family sample containing 390 affected individuals. Association and copy number variant analysis highlighted several genes that warrant further investigation, including IMMP2L and DOCK4 on chromosome 7. Evidence for the involvement of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family. [ABSTRACT FROM AUTHOR] |
| Copyright of Molecular Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 53473261 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Maestrini%2C+E%2E%22">Maestrini, E.</searchLink><br /><searchLink fieldCode="AR" term="%22Pagnamenta%2C+A%2E+T%2E%22">Pagnamenta, A. T.</searchLink><br /><searchLink fieldCode="AR" term="%22Lamb%2C+J%2E+A%2E%22">Lamb, J. A.</searchLink><br /><searchLink fieldCode="AR" term="%22Bacchelli%2C+E%2E%22">Bacchelli, E.</searchLink><br /><searchLink fieldCode="AR" term="%22Sykes%2C+N%2E+H%2E%22">Sykes, N. H.</searchLink><br /><searchLink fieldCode="AR" term="%22Sousa%2C+I%2E%22">Sousa, I.</searchLink><br /><searchLink fieldCode="AR" term="%22Toma%2C+C%2E%22">Toma, C.</searchLink><br /><searchLink fieldCode="AR" term="%22Barnby%2C+G%2E%22">Barnby, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Butler%2C+H%2E%22">Butler, H.</searchLink><br /><searchLink fieldCode="AR" term="%22Winchester%2C+L%2E%22">Winchester, L.</searchLink><br /><searchLink fieldCode="AR" term="%22Scerri%2C+T%2E+S%2E%22">Scerri, T. S.</searchLink><br /><searchLink fieldCode="AR" term="%22Minopoli%2C+F%2E%22">Minopoli, F.</searchLink><br /><searchLink fieldCode="AR" term="%22Reichert%2C+J%2E%22">Reichert, J.</searchLink><br /><searchLink fieldCode="AR" term="%22Cai%2C+G%2E%22">Cai, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Buxbaum%2C+J%2E+D%2E%22">Buxbaum, J. D.</searchLink><br /><searchLink fieldCode="AR" term="%22Korvatska%2C+O%2E%22">Korvatska, O.</searchLink><br /><searchLink fieldCode="AR" term="%22Schellenberg%2C+G%2E+D%2E%22">Schellenberg, G. D.</searchLink><br /><searchLink fieldCode="AR" term="%22Dawson%2C+G%2E%22">Dawson, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Bildt%2C+A%2E+de%22">Bildt, A. de</searchLink><br /><searchLink fieldCode="AR" term="%22Minderaa%2C+R%2E+B%2E%22">Minderaa, R. B.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Molecular+Psychiatry%22">Molecular Psychiatry</searchLink>. Sep2010, Vol. 15 Issue 9, p954-968. 15p. 1 Diagram, 5 Charts, 1 Graph. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Autism+spectrum+disorders%22">Autism spectrum disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosomes%22">Chromosomes</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+susceptibility%22">Disease susceptibility</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink> – Name: SubjectGeographic Label: Geographic Terms Group: Su Data: <searchLink fieldCode="DE" term="%22Europe%22">Europe</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we performed a high-density association analysis in AUTS1 and AUTS5, testing more than 3000 single nucleotide polymorphisms (SNPs) in all known genes in each region, as well as SNPs in non-genic highly conserved sequences. SNP genotype data were also used to investigate copy number variation within these regions. The study sample consisted of 127 and 126 families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Further investigation of the strongest association results was conducted in an independent European family sample containing 390 affected individuals. Association and copy number variant analysis highlighted several genes that warrant further investigation, including IMMP2L and DOCK4 on chromosome 7. Evidence for the involvement of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Molecular Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/mp.2009.34 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 15 StartPage: 954 Subjects: – SubjectFull: Autism spectrum disorders Type: general – SubjectFull: Chromosomes Type: general – SubjectFull: Disease susceptibility Type: general – SubjectFull: Genes Type: general – SubjectFull: Europe Type: general Titles: – TitleFull: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Maestrini, E. – PersonEntity: Name: NameFull: Pagnamenta, A. T. – PersonEntity: Name: NameFull: Lamb, J. A. – PersonEntity: Name: NameFull: Bacchelli, E. – PersonEntity: Name: NameFull: Sykes, N. H. – PersonEntity: Name: NameFull: Sousa, I. – PersonEntity: Name: NameFull: Toma, C. – PersonEntity: Name: NameFull: Barnby, G. – PersonEntity: Name: NameFull: Butler, H. – PersonEntity: Name: NameFull: Winchester, L. – PersonEntity: Name: NameFull: Scerri, T. S. – PersonEntity: Name: NameFull: Minopoli, F. – PersonEntity: Name: NameFull: Reichert, J. – PersonEntity: Name: NameFull: Cai, G. – PersonEntity: Name: NameFull: Buxbaum, J. D. – PersonEntity: Name: NameFull: Korvatska, O. – PersonEntity: Name: NameFull: Schellenberg, G. D. – PersonEntity: Name: NameFull: Dawson, G. – PersonEntity: Name: NameFull: Bildt, A. de – PersonEntity: Name: NameFull: Minderaa, R. B. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: Sep2010 Type: published Y: 2010 Identifiers: – Type: issn-print Value: 13594184 Numbering: – Type: volume Value: 15 – Type: issue Value: 9 Titles: – TitleFull: Molecular Psychiatry Type: main |
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