Investigation by linkage analysis of the XY pseudoautosomal region in the genetic susceptibility to schizophrenia

Abstract

Background: A susceptibility locus for schizophrenia in the pseudoautosomal region has been proposed on the basis of a possible excess of sex chromosome aneuploidies among patients with schizophrenia and an increased sex concordance in affected sib pairs. Several studies investigating this hypothesis have produced conflicting evidence.

Method: In a series of Icelandic and British families, we used lod score and sib pair linkage analyses with markers for the MIC2 and DXYS14 loci on the pseudoautosomal XY region.

Results: Lod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results.

Conclusion: We conclude that the present study provides no support for the involvement of either the pseudoautosomal region or the nearby region of the sex chromosomes in the aetiology of schizophrenia.