A genome-wide association study in 574 schizophrenia trios using DNA pooling

摘要: The cost of genome-wide association (GWA) studies can be prohibitively high when large samples are genotyped. We conducted a GWA study on schizophrenia (SZ) and to reduce the cost, we used DNA pooling. parent–offspring trios design avoid potential problems population stratification. constructed pools from 605 unaffected controls, 574 SZ patients third pool all parents patients. hybridized each eight times Illumina HumanHap550 arrays. estimated allele frequencies averaged intensities significance level results in sample was basis cases non-transmitted pseudocontrols, taking into account technical variability data. selected highest ranked SNPs for individual genotyping, after excluding poorly performing those that showed trend opposite direction control pool. genotyped 63 analysed with transmission disequilibrium test. Forty were significant at P<0.05, best result P=1.2 × 10−6 rs11064768. This SNP is within gene CCDC60, coiled-coil domain gene. (P=0.00016) rs893703, RBP1, candidate schizophrenia.