| Summary: | <p>Abstract</p> <p>Background</p> <p>Several lines of evidence have implicated the pro-inflammatory cytokine interleukin-1beta (IL-1β) in the etiology of schizophrenia. Although a number of genetic association studies have been reported, very few have systematically examined gene-wide tagging polymorphisms.</p> <p>Methods</p> <p>A total of 533 patients with schizophrenia (302 males: mean age ± standard deviation 43.4 ± 13.0 years; 233 females; mean age 44.8 ± 15.3 years) and 1136 healthy controls (388 males: mean age 44.6 ± 17.3 years; 748 females; 46.3 ± 15.6 years) were recruited for this study. All subjects were biologically unrelated Japanese individuals. Five tagging polymorphisms of <it>IL-1β </it>gene (rs2853550, rs1143634, rs1143633, rs1143630, rs16944) were examined for association with schizophrenia.</p> <p>Results</p> <p>Significant difference in allele distribution was found between patients with schizophrenia and controls for rs1143633 (<it>P </it>= 0.0089). When the analysis was performed separately in each gender, significant difference between patients and controls in allele distribution of rs1143633 was observed in females (<it>P </it>= 0.0073). A trend towards association was also found between rs16944 and female patients with schizophrenia (<it>P </it>= 0.032).</p> <p>Conclusions</p> <p>The present study shows the first evidence that the <it>IL-1β </it>gene polymorphism rs1143633 is associated with schizophrenia susceptibility in a Japanese population. The results suggest the possibility that the influence of <it>IL-1β </it>gene variations on susceptibility to schizophrenia may be greater in females than in males. Findings of the present study provide further support for the role of IL-1β in the etiology of schizophrenia.</p>
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