Abstract
Recently, two genome scan meta-analysis studies have found strong evidence for the association of loci on chromosome 8p with schizophrenia. The early growth response 3 (EGR3) gene located in chromosome 8p21.3 was also found to be involved in the etiology of schizophrenia. However, subsequent studies failed to replicate this finding. To investigate the genetic role of EGR3 in Chinese patients, we genotyped four SNPs (average interval ∼2.3 kb) in the chromosome region of EGR3 in 470 Chinese schizophrenia patients and 480 healthy control subjects. The SNP rs35201266 (located in intron 1 of EGR3) showed significant differences between cases and controls in both genotype frequency distribution (P = 0.016) and allele frequency distribution (P = 0.009). Analysis of the haplotype rs35201266-rs3750192 provided significant evidence for association with schizophrenia (P = 0.0012); a significant difference was found for the common haplotype AG (P = 0.0005). Furthermore, significant associations were also found in several other two-, and three-SNP tests of haplotype analyses. The meta-analysis revealed a statistically significant association between rs35201266 and schizophrenia (P = 0.0001). In summary, our study supports the association of EGR3 with schizophrenia in our Han Chinese sample, and further functional exploration of the EGR3 gene will contribute to the molecular basis for the complex network underlying schizophrenia pathogenesis.
Highlights
Schizophrenia (OMIM 181500) is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits
SNP rs35201266 showed significant differences between cases and controls both in the genotype frequency distribution (X2 = 8.25, P = 0.016) and the allele frequency distribution (the A-allele: X2 = 6.829, P = 0.009, odds ratio (OR) = 1.37, 95% confidence intervals (CI) = 1.07–1.75)
In the genetic model analysis (Table 2), a significantly positive result was observed for the A-allele of rs35201266 in the additive model (X2 = 7.09, P = 0.0078, OR = 1.46), and weakly positive results were found in the dominant model (X2 = 7.09, P = 0.0258, OR = 1.36, 95%CI = 1.04–1.79) and the recessive model (X2 = 5.21, P = 0.0224, OR = 2.69, 95%CI = 1.11–6.50)
Summary
Schizophrenia (OMIM 181500) is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits. Identification of susceptibility genes associated with schizophrenia has been difficult. This is presumably due to the etiological complexity and abnormalities in development of this psychiatric disease. In spite of these difficulties, chromosome region 8p has been shown to be the most well-established association with schizophrenia. Two genome-scan meta-analysis studies for psychiatric diseases have found strong evidence for the association of 8p with schizophrenia [3,4]. A genome-scan study with a large sample of pedigrees has added further evidence for the hypothesis that at least one schizophrenia susceptibility gene may be located on chromosome 8p [5]. EGR3 is one of these compelling susceptibility genes that have been associated with schizophrenia in various ethnic populations [6,7,8,9,10,11]
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