Association of Y chromosome haplotypes with autism

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23 Scopus citations


There is significant male excess in autism. In this study, we investigated a possible Y chromosome effect by haplotype analysis. We investigated 12 single-nucleotide polymorphisms in Y-linked neuroligin 4, transducin β-like 1, and eukaryotic translation initiation factor 1a genes in 146 autistic participants and 102 control participants of European American origin. The set of 12 single-nucleotide polymorphisms defined 9 Y chromosome haplotypes in autistic and control participants. Although the 2 most frequent haplotypes were equally distributed in the autistic and control participants, some haplotypes were overrepresented or underrepresented in autistic participants. The distribution of haplotypes between the autistic and control groups, as determined by Monte Carlo tests with Clump software, was significantly different (P =.0001 with 100 000 simulations). Our results are suggestive of a Y chromosome effect in autism.

Original languageEnglish
Pages (from-to)1258-1261
Number of pages4
JournalJournal of Child Neurology
Issue number10
StatePublished - 2009


  • Autism
  • Haplotype
  • Nucleotide polymorphism
  • Y chromosome


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