RESUMO
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.
RESUMO
OBJECTIVE: Schizophrenia is a chronic neuropsychiatric disease afflicting around 1.1% of the population worldwide. Recently, MIR137, CACNA1C, CSMD1, DRD2, and GRM3 have been reported as the most robustly emerging candidates involved in the etiology of schizophrenia. In this case control study, we performed an association analysis of rs1625579 (MIR137), rs1006737, rs4765905 (CACNA1C), rs10503253 (CSMD1), rs1076560 (DRD2), rs12704290, rs6465084, and rs148754219 (GRM3) in Pakistani population. METHODS: Schizophrenia was diagnosed on the basis of the Diagnostic and Statistical Manual of Mental Disorders 4th ed (DSM-IV). Detailed clinical information, family history of all patients and healthy controls were collected. RFLP based case control association study was performed in a Pakistani cohort of 508 schizophrenia patients and 300 healthy control subjects. Alleles and genotype frequencies were calculated using SPSS. RESULTS: A significant difference in the genotype and allele frequencies for rs4765905, rs1076560 and rs6465084 were found between the patients and controls (p=0.000). CONCLUSION: This study provides substantial evidence supporting the role of CACNA1C, GRM3 and DRD2 as schizophrenia susceptibility genes in Pakistani population.