Abstract
The basic helix-loop-helix (bHLH) transcription factor 4 (TCF4) had been identified as a susceptibility gene associated with schizophrenia (SCZ) by GWAS, but inconsistent results have been found in other studies. To validate these findings and to reveal the effects of different inheritance models, rs2958182, rs1261085, rs8766, and rs12966547 of the TCF4 gene were genotyped in the Northwest Han Chinese population (448 cases and 628 controls) via a multiplex polymerase chain reaction SNPscan assay. Single SNP, genotype, and association analyses with three different models were performed. We observed genotype and allele distributions of four SNPs that showed nonsignificant associations in the Northwest Han Chinese population. However, published datasets (51,892 cases and 68,498 controls) were collected and combined with our experimental results to ascertain the association of the TCF4 gene SNPs and SCZ, which demonstrated that rs2958182 (P=0.003) was a significant signal based on a systematic meta-analysis. To clarify the biological role of rs2958182, it is important to improve the understanding of the pathophysiology of SCZ.
Highlights
Schizophrenia (SCZ) is a critical and highly heritable psychotic disorder that involves genetic, environmental, and developmental factors [1, 2]
We found that only the rs2958182 polymorphism was significantly associated with SCZ after the systematic meta-analysis. ere are four Chinese studies included in the meta-analysis
Tam et al revealed that a major limitation of the approach with genomewide association studies (GWAS) was the high level of significance required to account for the multiple tests, which will result in the loss of some significant signals [30]
Summary
Schizophrenia (SCZ) is a critical and highly heritable psychotic disorder that involves genetic, environmental, and developmental factors (psychological etiologies) [1, 2]. Only a few loci have been consistently associated with SCZ across multiple studies in different populations, demonstrating that the initial findings from the GWAS require replication in various independent samples, in samples with different ethnic backgrounds [9, 10]. Previous studies have revealed that the TCF4 gene is associated with many mental disorders and deficiencies, and a translocation disrupting exon 4 of TCF4 was found associated with mental retardation and suggested a high risk for SCZ [12, 13]. The rs9960767 and rs2958182 polymorphisms of TCF4 have been identified as susceptibility loci for SCZ, which was confirmed by a study in a European population containing 16,161 samples and a study. E objective of this study was to further detect associations between the TCF4 gene and SCZ in a Northwestern Han Chinese population. The association between the TCF4 gene variants and the risk of SCZ were included in a meta-analysis to clarify previous inconsistencies
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