Abstract: Objective The present study aimed to investigate association of the DTNBP1 gene polymorphisms with paranoid schizophrenia in Han Chinese populations by a two-stage study. Methods In the discovery stage, 11 SNPs in DTNBP1 were tested in 532 patients with paranoid schizophrenia and 488 controls by Sanger sequencing. In the validation sample (1 111 cases and 1 435 controls), Taqman genotyping method was used to genotype SNP rs4715986. Results In the discovery stage, SNP rs4715986 showed disease association (χ2 = 11.02, P < 0.01) with paranoid schizophrenia for analysis of 532 patients and 488 controls; such an association survived a correction with 10,000 permutations (corrected P < 0.05). In the validation sample (1 111 cases and 1 435 controls), we confirmed the genotypic association (χ2 = 9.292, P = 0.01) of rs4715986 with paranoid schizophrenia. Conclusions The present results suggest that the DTNBP1 gene may be mainly involved in the development of paranoid schizophrenia in the Chinese Han population.

Key words: schizophrenia, association study, DTNBP1, rs4715986