ABSTRACT
Objective:To explore the relevance of the three polymorphic loci in the CUB and SUSHI multiple domains 1(CSMD1) gene with schizophrenia and its cognitive function.Methods:Polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) was used to detect CSMD1 gene polymorphism in 109 schizophrenia patients(case group) and 109 healthy controls(control group), and the cognitive function was evaluated by Montreal cognitive assessment (MoCA). The allele and genotype frequencies between the case group and the control group were statistically analyzed by SPSS 19.0 software.Results:(1)There were significant differences in the distribution of genotype AA, AC, CC (case group: AA, 51(46.79%), AC, 43(39.45%), CC, 15(13.76%); control group: AA, 22(20.18%), AC, 58(53.21%), CC, 29(26.61%), χ2 =18.203, P<0.001) and allele frequencies (case group: A, 145 (66.51%), C, 73 (33.49%); control group: A, 102(46.79%), C, 116(53.21%), χ2=17.269, P<0.001, OR=0.443, 95% CI: 0.301-0.652) at rs10503253 loci between the case group and the control group.(2) Differences in allele frequencies at the rs10503253 loci were associated with the visual space and executive dysfunction in the case group ( χ2=6.470, P=0.011, OR=2.089, 95% CI: 1.179-3.702). (3) Differences in allele frequencies at the rs17405197 loci were associated with language dysfunction in the case group ( χ2=9.468, P=0.002, OR=0.415, 95% CI: 0.235-0.731). (4) Differences in allele frequencies at the rs2740931 loci were associated with language dysfunction in the case group ( χ2=5.094, P=0.024, OR=2.016, 95% CI: 1.091-3.726). Conclusion:CSMD1 gene polymorphism may be a risk factor for the onset of schizophrenia, associated with symptoms of cognitive dysfunction in schizophrenia.