Association Of Single Nucleotide Polymorphism Of TCF4 And EGR Family Genes With Schizophrenia

Objective:Schizophrenia(SCZ)is a group of severe mental disorders of unknown etiology,with significant abnormalities in cognitive,thinking,emotional,behavioral and other mental activities,and leads to obvious occupational and social function impairment.The lifetime prevalence rate of this disease is about 1%,and the prognosis is poor.It is the main disease that causes mental disability and causes huge losses to patients'personal,family and social productivity.The present research indicates that the disease may be caused by multiple genes combined with environmental factors.Among them,neurodevelopmental factors related to genetics play an important role.Finding susceptible genes related to them has become a hot point in schizophrenia research field.This study plans to find susceptibility gene to schizophrenia at the level of single nucleotide polymorphism(SNP)from TCF4 and EGR family genes.Methods:Based on previous studies and GWAS,9 SNPs of TCF4 and EGR family genes were choosed,1459 schizophrenic patients and 853 healthy controls were genotyped by SnapShot.Used the SPSS 19.0 software,chi-square test for genotype and allele frequency distribution,fisher's exact test was used when the chi-square test standard is not met,SHEsis software was used for Hardy-Weinberg equilibrium(HWE)test,and simultaneous disequilibrium analysis and haplotype analysis of sites with significant differences through SHEsis.The Boferroni method was used to correct the multiple comparison results.In this study,P<0.05 was considered statistically significant.Results:This study showed that the T allele frequency and genotype frequency of TCF4 SNP rs 10401120 in the case group and the control group were significantly different(P<0.001).There is a significant difference in the A allele frequency of EGR2 SNP rs2295814(P=0.035),a significant difference in the C allele frequency of EGR3 SNP rs1877670(P=0.002)and a significant difference in genotype frequency(P=0.008).The allele frequency and genotype frequency of other SNP were not related to schizophrenia.In addition,we found that rs10401102 and rs9960767 showed a high linkage disequilibrium but failed to construct haplotypes for statistical analysis.Conclusions:In this study,the TCF4 SNP rs10401120 allele T and genotype CT,the EGR2 SNP rs2295814 allele A may increase the risk of schizophrenia;the EGR3 SNP rs1877670 allele C may be a protective factor for schizophrenia,genotype CT and CC may reduce the risk of schizophrenia.