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Genome-wide scan for loci of Asperger syndrome

Molecular Psychiatry volume 9, pages 161–168 (2004)Cite this article

Abstract

Asperger syndrome (AS), characterised by inadequate social interaction, lack of empathy and a dependence of routines and rituals, is classified as belonging to the autism spectrum disorders (DSM-IV and ICD-10). Although the prevalence of AS has been estimated to range from 0.3 up to 48.4 per 10 000, the phenotype still remains relatively unrecognised by clinicians. Several reports, including the original description by Hans Asperger (1944), have suggested that AS has a strong genetic component. Here, we have performed a genome-wide scan on Finnish families ascertained for AS with a strictly defined phenotype. In the initial scan, Zmax>1.5 was observed on nine chromosomal regions, 1q21–22, 3p14–24, 3q25–27, 4p14, 4q32, 6p25, 6q16, 13q31–33 and 18p11. In the fine mapping stage, the highest two-point LOD scores were observed on chromosomes 1q21–22 (D1S484, Zmax dom=3.58), 3p14–24 (D3S2432, Zmax dom=2.50) and 13q31–33 (D13S793, Zmax dom=1.59). The loci on 1q21–22 and 3p14–24 overlap with previously published autism susceptibility loci, and the loci on 1q21–22 and 13q31–33 overlap with the reported schizophrenia susceptibility loci. The present study is the first genome-wide screen in AS and therefore replication data sets are needed to evaluate further the significance of the AS-loci identified here.

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Acknowledgements

First of all, we acknowledge all the families who participated in this study. We thank Drs Joseph D Terwilliger and Eric Sobel for their help in statistical analyses. Dr Mari Auranen is thanked for help in sample collection. Nina Hagman-Salonen and Ulla Sarin-Seppänen are acknowledged for contacting the families. This work was financially supported by the Academy of Finland (LIFE2000 Consortium), the Pediatric Research Foundation (Ulla Hjelt Fund), the Päivikki and Sakari Sohlberg Foundation, the Arvo Ylppö Foundation and the Helsinki University Hospital Research Funding. Dr Peltonen is a holder of the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics at UCLA, endowed by the MacDonald Foundation.

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Authors and Affiliations

  1. Department of Molecular Medicine, National Public Health Institute, Biomedicum, PO Box 104, Helsinki, 00251, Finland

    T Ylisaukko-oja, E Kempas, T Varilo, L Peltonen & I Järvelä

  2. Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, 00251, Finland

    T Ylisaukko-oja, E Kempas, L Peltonen & I Järvelä

  3. Unit of Child Neurology, Helsinki Hospital for Children and Adolescents, PO Box 280, Helsinki, 00029 HUS, Finland

    T Nieminen-von Wendt, S Sarenius & L von Wendt

  4. Laboratory of Molecular Genetics, HUCH-Laboratory Diagnostics, Haartmaninkatu 2, Helsinki, 00029, Finland

    I Järvelä

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  1. T Ylisaukko-oja
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Ylisaukko-oja, T., Nieminen-von Wendt, T., Kempas, E. et al. Genome-wide scan for loci of Asperger syndrome. Mol Psychiatry 9, 161–168 (2004). https://doi.org/10.1038/sj.mp.4001385

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