Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Original Research Article
  • Published:

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Miles JH, Hillman RE . Value of a clinical morphology examination in autism Am J Med Genet 2000 91: 245–253

    Article  CAS  Google Scholar 

  2. International Molecular Genetic Study of Autism Consortium. A full genome screen for autism with evidence for linkage to a region on chromosome 7q Hum Mol Genet 1998 7: 571–578

  3. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E et al. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study Hum Mol Genet 1999 8: 805–812

    Article  CAS  Google Scholar 

  4. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J et al. A genomic screen of autism: evidence for a multilocus etiology Am J Hum Genet 1999 65: 493–507

    Article  CAS  Google Scholar 

  5. Hoshino Y, Yashima Y, Tachibana R, Kaneko M, Watanabe M, Kumashiro H . Sex chromosome abnormalities in autistic children—long Y chromosome Fukushima J Med Sci 1979 26: 31–42

    CAS  PubMed  Google Scholar 

  6. Gillberg C, Wahlstrom J . Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases Dev Med Child Neurol 1985 27: 293–304

    Article  CAS  Google Scholar 

  7. Blackman JA, Selzer SC, Patil S, Van Dyke DC . Autistic disorder associated with an iso-dicentric Y chromosome Dev Med Child Neurol 1991 33: 162–166

    Article  CAS  Google Scholar 

  8. Abrams N, Pergament E . Childhood psychosis combined with XYY abnormalities J Genet Psychol 1971 118: 13–16

    Article  CAS  Google Scholar 

  9. Gillberg C, Winnergard I, Wahlstrom J . The sex chromosomes—one key to autism? An XYY case of infantile autism Appl Res Ment Retard 1984 5: 353–360

    Article  CAS  Google Scholar 

  10. Mariner R, Jackson AW, Levitas A, Hagerman RJ, Braden M, McBogg PM et al. Autism, mental retardation, and chromosomal abnormalities J Autism Dev Disord 1986 16: 425–440

    Article  CAS  Google Scholar 

  11. Nicolson R, Bhalerao S, Sloman L . 47,XYY karyotypes and pervasive developmental disorders Can J Psychiatry 1998 43: 619–622

    Article  CAS  Google Scholar 

  12. Weidmer-Mikhail E, Sheldon S, Ghaziuddin M . Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study J Intellect Disabil Res 1998 42: 8–12

    Article  Google Scholar 

  13. Walzer S, Bashir AS, Silbert AR . Cognitive and behavioral factors in the learning disabilities of 47,XXY and 47,XYY boys Birth Defects Orig Artic Ser 1990 26: 45–58

    CAS  PubMed  Google Scholar 

  14. Fryns JP, Kleczkowska A, Kubien E, Van den Berghe H . XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning Genet Couns 1995 6: 197–206

    CAS  PubMed  Google Scholar 

  15. Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, Weil D et al. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y−)XY females Hum Mol Genet 1997 6: 1985–1989

    Article  CAS  Google Scholar 

  16. Mayer A, Lahr G, Swaab DF, Pilgrim C, Reisert I . The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain Neurogenetics 1998 1: 281–288

    Article  CAS  Google Scholar 

  17. Blanco P, Sargent CA, Boucher CA, Mitchell M, Affara NA . Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain Mamm Genome 2000 11: 906–914

    Article  CAS  Google Scholar 

  18. Lahn BT, Pearson NM, Jegalian K . The human Y chromosome, in the light of evolution Nat Rev Genet 2001 2: 207–216

    Article  CAS  Google Scholar 

  19. Thomas NS, Sharp AJ, Browne CE, Skuse D, Hardie C, Dennis NR . Xp deletions associated with autism in three females Hum Genet 1999 104: 43–48

    Article  CAS  Google Scholar 

  20. Crow TJ . Schizophrenia as the price that homo sapiens pays for language: a resolution of the central paradox in the origin of the species Brain Res Brain Res Rev 2000 31: 118–129

    Article  CAS  Google Scholar 

  21. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M et al. A physical map of the human Y chromosome Nature 2001 409: 943–945

    Article  CAS  Google Scholar 

  22. Jobling MA, Tyler-Smith C . New uses for new haplotypes the human Y chromosome, disease and selection Trends Genet 2000 16: 356–362

    Article  CAS  Google Scholar 

  23. Jobling MA, Williams G, Schiebel K, Pandya A, McElreavey K, Salas L et al. A selective difference between human Y-chromosomal DNA haplotypes Curr Biol 1998 8: 1391–1394

    Article  CAS  Google Scholar 

  24. Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T et al. Spermatogenic ability is different among males in different Y chromosome lineage J Hum Genet 1999 44: 289–292

    Article  CAS  Google Scholar 

  25. Kittles RA, Long JC, Bergen AW, Eggert M, Virkkunen M, Linnoila M et al. Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits Proc Natl Acad Sci USA 1999 96: 4204–4209

    Article  CAS  Google Scholar 

  26. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A et al. Y-chromosomal diversity in Europe is clinical and influenced primarily by geography, rather than by language Am J Hum Genet 2000 67: 1526–1543

    Article  CAS  Google Scholar 

  27. Quintana-Murci L, Krausz C, Zerjal T, Sayar SH, Hammer MF, Mehdi SQ et al. Y-chromosome lineages trace diffusion of people and languages in southwestern Asia Am J Hum Genet 2001 68: 537–542

    Article  CAS  Google Scholar 

  28. Schneider S, Kueffer JM, Roessli D, Excoffier L . Arlequin ver. 1.1: a software for population genetic data analysis Genetics and Biometry Laboratory, University of Geneva, Switzerland 1997

    Google Scholar 

  29. Rousset F, Raymond M . Testing heterozygote excess and deficiency Genetics 1995 140: 1413–1419

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

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.

Author information

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

Authors
  1. S Jamain
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H Quach
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. L Quintana-Murci
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C Betancur
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A Philippe
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C Gillberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. E Sponheim
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. O H Skjeldal
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. M Fellous
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. M Leboyer
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. T Bourgeron
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T Bourgeron.

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

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

Keywords

This article is cited by

Search

Advanced search

Quick links