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  • Original Research Article
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Y chromosome haplogroups in autistic subjects

Molecular Psychiatry volume 7, pages 217–219 (2002)Cite this article

Abstract

The male to female ratio in autism is 4:1 in the global autistic population, but increases to 23:1 in autistic subjects without physical or brain abnormalities.1 Despite this well-recognised gender difference, male predisposition to autistic disorder remains unexplained and the role of sex chromosomes is still debated. Numerical and structural abnormalities of the sex chromosomes are among the most frequently reported chromosomal disorders associated with autism. However, genome scans have failed to detect linkage on the X chromosome2,3,4 and this approach cannot study the non-recombining region of the Y chromosome. In this study, we searched for a specific Y chromosome effect in autistic subjects. Using informative Y-polymorphic markers, the Y chromosome haplotypes of 111 autistic subjects from France, Sweden and Norway were defined and compared with relevant control populations. No significant difference in Y-haplotype distribution between the affected and control groups was observed. Although this study cannot exclude the presence of a Y susceptibility gene, our results are not suggestive of a Y chromosome effect in autism.

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Acknowledgements

We thank the patients and their families who made this research possible and Ken McElreavey for helpful discussions. This work was supported by the Délégation de la Recherche Clinique de l'Assistance Publique-Hôpitaux de Paris (PHRC AOM95076), the French Research Ministry (Actions Concertées Incitatives), France Télécom, and the Swedish Medical Research Council (grant No. K97–21X–11251–03CK). LQH is an INSERM Poste Vert.

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Authors and Affiliations

  1. Laboratoire d'Immunogénétique Humaine, INSERM E021, Institut Pasteur, Paris, 75015, France

    S Jamain, H Quach, L Quintana-Murci, M Fellous & T Bourgeron

  2. INSERM U513, Faculté de Médecine de Créteil, 94000 Créteil, France

    C Betancur, A Philippe & M Leboyer

  3. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, 41119, Sweden

    C Gillberg

  4. Centre for Child and Adolescent Psychiatry, University of Oslo, Oslo, 0319, Norway

    E Sponheim

  5. Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo, 0027, Norway

    O H Skjeldal

  6. Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor, Créteil, 94000, France

    M Leboyer

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  1. S Jamain
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  2. H Quach
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  11. T Bourgeron
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Correspondence to T Bourgeron.

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Jamain, S., Quach, H., Quintana-Murci, L. et al. Y chromosome haplogroups in autistic subjects. Mol Psychiatry 7, 217–219 (2002). https://doi.org/10.1038/sj.mp.4000968

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  • DOI: https://doi.org/10.1038/sj.mp.4000968

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