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Pseudoautosomal locus for schizophrenia excluded in 12 pedigrees
Z W Wang1, D Black, N Andreasen
1Department of Psychiatry, University of Iowa College of Medicine, Iowa City.
Archives of General Psychiatry
|March 1, 1993
Summary
This study found no evidence for a pseudoautosomal locus for schizophrenia. Genetic linkage analyses in families did not support the hypothesis of a schizophrenia gene located in the pseudoautosomal region.
Area of Science:
- Genetics
- Psychiatry
- Human Genetics
Background:
- A pseudoautosomal locus for schizophrenia was previously proposed based on an excess of same-sex affected sibling pairs with paternal transmission.
- This pattern suggested a potential genetic mechanism involving the pseudoautosomal region.
Purpose of the Study:
- To investigate the pseudoautosomal hypothesis for schizophrenia.
- To determine if a schizophrenia locus exists within the pseudoautosomal region.
Main Methods:
- Analyzed 37 sibling pairs concordant for schizophrenia spectrum disorders across 24 nuclear pedigrees.
- Performed linkage analysis using seven marker loci in the pseudoautosomal region across 12 informative pedigrees.
- Tested both strict and broad schizophrenia spectrum phenotypes under autosomal dominant and recessive genetic models.
Main Results:
- No significant difference in concordance by sex was observed between paternal and maternal transmission.
- Linkage analysis did not support a pseudoautosomal locus for schizophrenia or its spectrum.
- Lod scores were below -4 for the dominant model and below -2 for the recessive model across the region.
Conclusions:
- The study provides no evidence for a pseudoautosomal locus for schizophrenia in the investigated pedigrees.
- The findings refute the hypothesis of pseudoautosomal transmission of schizophrenia based on the tested genetic models.