Investigation by Linkage Analysis of the XY Pseudoautosomal Region in the Genetic Susceptibility to Schizophrenia

Abstract

BackgroundA 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.MethodIn 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.ResultsLod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results.ConclusionWe 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.