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.

@Article{OMSCMTRRCS10,
  author       = {Ott, J. and Macciardi, F. and Shen, Y. and Carta, M. and Murru, A. and Triunfo, R. and Robledo, R. and Rinaldi, A. and Contu, L. and Siniscalco, M.},
  title        = {Pilot Study on Schizophrenia in Sardinia},
  journal      = {Human Heredity},
  volume       = {70},
  pages        = {92-96},
  month        = {june},
  year         = {2010},
  publisher    = {Karger AG},
  keywords     = {Schizophrenia Genome-wide association study Genetic association},
  doi          = {10.1159/000313844},
  url          = {https://publications.crs4.it/pubdocs/2010/OMSCMTRRCS10},
}