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. 2005 Jun;76(6):1050-6.
doi: 10.1086/430278. Epub 2005 Apr 1.

Replication of autism linkage: fine-mapping peak at 17q21

Rita M Cantor  1 , Naoko Kono, Jackie A Duvall, Ana Alvarez-Retuerto, Jennifer L Stone, Maricela Alarcón, Stanley F Nelson, Daniel H Geschwind
Affiliations

Replication of autism linkage: fine-mapping peak at 17q21

Rita M Cantor et al. Am J Hum Genet. 2005 Jun.

Abstract

Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. A genome scan of 345 families from the Autism Genetic Resource Exchange (AGRE) (AGRE_1), gave the strongest evidence of linkage at 17q11-17q21 in families with no affected females. Here, we report a full-genome scan of an independent sample of 91 AGRE families with 109 affected sibling pairs (AGRE_2) that also shows the strongest evidence of linkage to 17q11-17q21 in families with no affected females. Taken together, these samples provide a replication of linkage to this chromosome region that is, to our knowledge, the first such replication in autism. Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21.

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Figures

Figure 1
Figure 1
MLS for a whole-genome scan, by chromosome, of 109 autistic sibling pairs in 91 families in AGRE_2. Those regions showing an MLS >1.0 have been identified with the name of the marker nearest the peak.
Figure 2
Figure 2
Chromosome 17 linkage-analysis MLSs of 109 autistic sibling pairs from AGRE_2 (gray line). MLSs obtained by stratifying the sibships into those with no autistic females are indicated by a black line. MLSs from sibships with at least one autistic female are indicated by a dashed line. The additional gray dashed peak represents the location and MLS plot from the analysis of AGRE_1 sibships with no affected females. The peak marker is in boldface type.
Figure 3
Figure 3
Chromosome 17q fine-mapping linkage-analysis MLSs of 220 autistic sibling pairs with no affected females from AGRE_1 and AGRE_2 separately (black and gray dashed lines, respectively) and combined (solid black line). Markers and their distances from the p telomere (in parentheses) appear on the horizontal axis.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. AGRE, http://www.agre.org
    1. Center for Inherited Disease Research, http://www.cidr.jhmi.edu/
    1. Center for Medical Genetics, http://research.marshfieldclinic.org/genetics/ (for the Marshfield marker maps)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for autism, Rett syndrome, and fragile-X syndrome)

References

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