View in EDS PDF Full Text

Evidence for multiple loci from a genome scan of autism kindreds.

Saved in:
Bibliographic Details
Title: Evidence for multiple loci from a genome scan of autism kindreds.
Authors: Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., Leong, L., Yu, C.-E., Stodgell, C., Rodier, P. M., Spence, M. A., Minshew, N., McMahon, W. M., Wijsman, E. M.
Source: Molecular Psychiatry. Nov2006, Vol. 11 Issue 11, p1049-1060. 12p. 2 Charts, 7 Graphs.
Subjects: Genetics of autism, Human genome, Immunogenetics, Linkage (Genetics), Microsatellite repeats, Intellectual disabilities, Brain diseases, Autism in children
Abstract: We performed a genome-wide linkage scan using highly polymorphic microsatellite markers. To minimize genetic heterogeneity, we focused on sibpairs meeting the strict diagnosis of autism. In our primary analyses, we observed a strong linkage signal (P=0.0006, 133.16 cM) on chromosome 7q at a location coincident with other linkage studies. When a more relaxed diagnostic criteria was used, linkage evidence at this location was weaker (P=0.01). The sample was stratified into families with only male affected subjects (MO) and families with at least one female affected subject (FC). The strongest signal unique to the MO group was on chromosome 11 (P=0.0009, 83.82 cM), and for the FC group on chromosome 4 (P=0.002, 111.41 cM). We also divided the sample into regression positive and regression negative families. The regression-positive group showed modest linkage signals on chromosomes 10 (P=0.003, 0 cM) and 14 (P=0.005, 104.2 cM). More significant peaks were seen in the regression negative group on chromosomes 3 (P=0.0002, 140.06 cM) and 4 (P=0.0005, 111.41 cM). Finally, we used language acquisition data as a quantitative trait in our linkage analysis and observed a chromosome 9 signal (149.01 cM) of P=0.00006 and an empirical P-value of 0.0008 at the same location. Our work provides strong conformation for an autism locus on 7q and suggestive evidence for several other chromosomal locations. Diagnostic specificity and detailed analysis of the autism phenotype is critical for identifying autism loci.Molecular Psychiatry (2006) 11, 1049–1060. doi:10.1038/sj.mp.4001874; published online 1 August 2006 [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
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 22848536
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Evidence for multiple loci from a genome scan of autism kindreds.
– Name: Author
  Label: Authors
  Group: Au
  Data: <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="%22Sung%2C+Y%2E+J%2E%22">Sung, Y. J.</searchLink><br /><searchLink fieldCode="AR" term="%22Estes%2C+A%2E%22">Estes, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Munson%2C+J%2E%22">Munson, J.</searchLink><br /><searchLink fieldCode="AR" term="%22Rosenthal%2C+E%2E%22">Rosenthal, E.</searchLink><br /><searchLink fieldCode="AR" term="%22Rothstein%2C+J%2E%22">Rothstein, J.</searchLink><br /><searchLink fieldCode="AR" term="%22Flodman%2C+P%2E%22">Flodman, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Smith%2C+M%2E%22">Smith, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Coon%2C+H%2E%22">Coon, H.</searchLink><br /><searchLink fieldCode="AR" term="%22Leong%2C+L%2E%22">Leong, L.</searchLink><br /><searchLink fieldCode="AR" term="%22Yu%2C+C%2E-E%2E%22">Yu, C.-E.</searchLink><br /><searchLink fieldCode="AR" term="%22Stodgell%2C+C%2E%22">Stodgell, C.</searchLink><br /><searchLink fieldCode="AR" term="%22Rodier%2C+P%2E+M%2E%22">Rodier, P. M.</searchLink><br /><searchLink fieldCode="AR" term="%22Spence%2C+M%2E+A%2E%22">Spence, M. A.</searchLink><br /><searchLink fieldCode="AR" term="%22Minshew%2C+N%2E%22">Minshew, N.</searchLink><br /><searchLink fieldCode="AR" term="%22McMahon%2C+W%2E+M%2E%22">McMahon, W. M.</searchLink><br /><searchLink fieldCode="AR" term="%22Wijsman%2C+E%2E+M%2E%22">Wijsman, E. M.</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Molecular+Psychiatry%22">Molecular Psychiatry</searchLink>. Nov2006, Vol. 11 Issue 11, p1049-1060. 12p. 2 Charts, 7 Graphs.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Genetics+of+autism%22">Genetics of autism</searchLink><br /><searchLink fieldCode="DE" term="%22Human+genome%22">Human genome</searchLink><br /><searchLink fieldCode="DE" term="%22Immunogenetics%22">Immunogenetics</searchLink><br /><searchLink fieldCode="DE" term="%22Linkage+%28Genetics%29%22">Linkage (Genetics)</searchLink><br /><searchLink fieldCode="DE" term="%22Microsatellite+repeats%22">Microsatellite repeats</searchLink><br /><searchLink fieldCode="DE" term="%22Intellectual+disabilities%22">Intellectual disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Brain+diseases%22">Brain diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Autism+in+children%22">Autism in children</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: We performed a genome-wide linkage scan using highly polymorphic microsatellite markers. To minimize genetic heterogeneity, we focused on sibpairs meeting the strict diagnosis of autism. In our primary analyses, we observed a strong linkage signal (P=0.0006, 133.16 cM) on chromosome 7q at a location coincident with other linkage studies. When a more relaxed diagnostic criteria was used, linkage evidence at this location was weaker (P=0.01). The sample was stratified into families with only male affected subjects (MO) and families with at least one female affected subject (FC). The strongest signal unique to the MO group was on chromosome 11 (P=0.0009, 83.82 cM), and for the FC group on chromosome 4 (P=0.002, 111.41 cM). We also divided the sample into regression positive and regression negative families. The regression-positive group showed modest linkage signals on chromosomes 10 (P=0.003, 0 cM) and 14 (P=0.005, 104.2 cM). More significant peaks were seen in the regression negative group on chromosomes 3 (P=0.0002, 140.06 cM) and 4 (P=0.0005, 111.41 cM). Finally, we used language acquisition data as a quantitative trait in our linkage analysis and observed a chromosome 9 signal (149.01 cM) of P=0.00006 and an empirical P-value of 0.0008 at the same location. Our work provides strong conformation for an autism locus on 7q and suggestive evidence for several other chromosomal locations. Diagnostic specificity and detailed analysis of the autism phenotype is critical for identifying autism loci.Molecular Psychiatry (2006) 11, 1049–1060. doi:10.1038/sj.mp.4001874; published online 1 August 2006 [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.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=22848536
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/sj.mp.4001874
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 12
        StartPage: 1049
    Subjects:
      – SubjectFull: Genetics of autism
        Type: general
      – SubjectFull: Human genome
        Type: general
      – SubjectFull: Immunogenetics
        Type: general
      – SubjectFull: Linkage (Genetics)
        Type: general
      – SubjectFull: Microsatellite repeats
        Type: general
      – SubjectFull: Intellectual disabilities
        Type: general
      – SubjectFull: Brain diseases
        Type: general
      – SubjectFull: Autism in children
        Type: general
    Titles:
      – TitleFull: Evidence for multiple loci from a genome scan of autism kindreds.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Schellenberg, G. D.
      – PersonEntity:
          Name:
            NameFull: Dawson, G.
      – PersonEntity:
          Name:
            NameFull: Sung, Y. J.
      – PersonEntity:
          Name:
            NameFull: Estes, A.
      – PersonEntity:
          Name:
            NameFull: Munson, J.
      – PersonEntity:
          Name:
            NameFull: Rosenthal, E.
      – PersonEntity:
          Name:
            NameFull: Rothstein, J.
      – PersonEntity:
          Name:
            NameFull: Flodman, P.
      – PersonEntity:
          Name:
            NameFull: Smith, M.
      – PersonEntity:
          Name:
            NameFull: Coon, H.
      – PersonEntity:
          Name:
            NameFull: Leong, L.
      – PersonEntity:
          Name:
            NameFull: Yu, C.-E.
      – PersonEntity:
          Name:
            NameFull: Stodgell, C.
      – PersonEntity:
          Name:
            NameFull: Rodier, P. M.
      – PersonEntity:
          Name:
            NameFull: Spence, M. A.
      – PersonEntity:
          Name:
            NameFull: Minshew, N.
      – PersonEntity:
          Name:
            NameFull: McMahon, W. M.
      – PersonEntity:
          Name:
            NameFull: Wijsman, E. M.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: Nov2006
              Type: published
              Y: 2006
          Identifiers:
            – Type: issn-print
              Value: 13594184
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Molecular Psychiatry
              Type: main
ResultId 1