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.
Ott
Jurg
J
Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
Macciardi
Fabio
F
Shen
Yuanyuan
Y
Carta
Mauro G
MG
Murru
Andrea
A
Triunfo
Riccardo
R
Robledo
Renato
R
Rinaldi
Antoniettina
A
Contu
Licinio
L
Siniscalco
Marcello
M
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*