Pilot study on schizophrenia in Sardinia

Objective: Based on a small sample of cases with schizophrenia and control individuals from an isolated population, a genome-wide association study was undertaken to find variants conferring susceptibility to this disease. Methods: Standard association tests were employed, followed by newer multilocus association methods (genotype patterns). Results: Individually, no variant produced a significant result. However, the best two variants (rs1360382 on chromosome 9 and rs1303 on chromosome 14) showed significantly different genotype pattern distributions between patients and control individuals. The risk genotype pattern AA-TT is highly predictive of schizophrenia, with estimated sensitivity and specificity of 1 and 0.96, respectively. Conclusions: These findings support the hypothesis that schizophrenia is partly due to multiple genetic variants, each with a relatively small effect.