A meta-analysis of the association of the HOPA12bp polymorphism and schizophrenia

Uncommon polymorphisms, particularly balanced uncommon polymorphisms, present a significant challenge to our understanding of their role in behavior. We have recently demonstrated that an uncommon candidate gene polymorphism for schizophrenia, known as HOPA12bp, is the defining polymorphism for a large X-chromosome haplotype in population disequilibrium and that it is associated with a positive syndrome of psychosis. Not all studies, however, have shown this effect. In this report, we reviewed prior studies and conducted meta-analysis of studies using probands of northern European extraction. We found that the presence of the HOPA12bp is a significant risk factor for psychosis for both men and women and suggest that differences in the case definition of schizophrenia may affect the strength of the association.