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Independent replication and initial fine mapping of 3p21–24 in Asperger syndrome
  1. K Rehnström1,
  2. T Ylisaukko-oja2,
  3. T Nieminen-von Wendt3,4,
  4. S Sarenius3,
  5. T Källman3,
  6. E Kempas2,
  7. L von Wendt3,
  8. L Peltonen2,
  9. I Järvelä1,5
  1. 1Department of Medical Genetics, University of Helsinki, PO Box 63, 00014 University of Helsinki, Finland
  2. 2Department of Molecular Medicine, National Public Health Institute, Biomedicum, PO Box 104, 00251 Helsinki, Finland
  3. 3Unit of Child Neurology, Helsinki Hospital for Children and Adolescents, PO Box 280, 00029 HUS, Helsinki, Finland
  4. 4Dextra Medical Center, Raumankatu 1a, 00350 Helsinki, Finland
  5. 5Laboratory of Molecular Genetics, Helsinki University Central Hospital, Haartmaninkatu 2, 00029 Helsinki, Finland
  1. Correspondence to:
 Dr Irma Järvelä
 Laboratory of Molecular Genetics, Helsinki University Central Hospital, Haartmaninkatu 2, 00029 Helsinki, Finland; irma.jarvela{at}


Background: Asperger syndrome is characterised by abnormalities in social interaction as well as repetitive and stereotyped behaviours and interests. The trait is thought to display complex inheritance, but in a subset of families the inheritance resembles the autosomal dominant model. Linkage to 3p14–24 has recently been reported in Asperger syndrome in Finnish families with a maximum multipoint NPLall of 3.32 at D3S2432.

Methods: We have replicated linkage findings to 3p21–24 in 12 new extended Asperger syndrome families. Linkage analyses were performed separately for the 12 new families, and linkage and association analyses were also performed jointly with data from the original genome-wide screen.

Results: Best two point and multipoint logarithm of the odds (LOD) scores in analyses of both data sets were obtained at D3S2432 (NPLall = 3.83) with both subsets of families contributing to linkage. Association analysis of the combined data set produced a trend towards association with D3S2432 and D3S1619.

Conclusions: This study further validates 3q21–24 as a candidate region for Asperger syndrome.

  • AS, Asperger syndrome
  • ASD, autism spectrum disorder
  • LD, linkage disequilibrium
  • LOD, logarithm of the odds
  • PCR, polymerase chain reaction
  • PPL, posterior probability of linkage
  • Asperger syndrome
  • association analysis
  • autism spectrum disorders
  • linkage analysis

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  • This work was financially supported by the Academy of Finland (LIFE2000 Fund), the Päivikki and Sakari Sohlberg Foundation, Helsinki University Hospital Research Funding, Helsinki Biomedical Graduate School, the Foundation for Pediatric Research (KR), Biomedicum Helsinki Foundation (KR and TY), The Medical Society of Finland (KR), Helsinki University Funding (TY), and Cure Autism Now (TY). Dr Peltonen is the holder of the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics at UCLA, endowed by the MacDonald Foundation.

  • Competing interests: none declared