The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia.

摘要: Evidence suggests that myelin alterations could predispose to schizophrenia. Reduced expression of several genes has been observed in schizophrenia patients. Recently, we identified the discoidin domain receptor 1 (DDR1; located at human chromosome 6p21.3) as a gene mouse model and oligodendroglial cell line. In present study screened for single nucleotide polymorphisms (SNPs) DNA from 100 We novel mutation within exon 10 produces amino-acid substitution N502S a–d isoforms, M475V e isoform. However frequency (2%) was similar patients control subjects. case–control assessment with 389 schizophrenic 615 controls, one SNP (SNP9, rs1049623) associated (odds ratio=1.44, 95% confidence interval: 1.15–1.79, adjusted P=0.0016). This association confirmed haplotype analysis; SNPs 9–10–11 (rs1049623, rs2267641 rs2239518) remaining significant even after adjustment multiple testing (adjusted P=0.0136). Of note strong gender dependence association, is, statistical significance restricted men P-value=0.0002). Regression analysis DDR1 mRNA peripheral blood lymphocytes showed presence G allele significantly decreased relative number copies dose-dependent manner (P=0.003). These data suggest risk tags cis-acting variant involved transcription regulation system gene. conclusion, propose new susceptibility