Association Analysis Between SNPs in the Promoter Region of and Schizophrenia in the Northern Chinese Han Population.

BACKGROUND

Abnormal gene expression may cause neurotransmitter disorders, resulting in schizophrenia. The association between and the risk of schizophrenia is controversial, and there has been little research on the SNPs in the promoter region of .

PURPOSE

The present study was performed to detect the association between SNPs in the promoter region of the gene and the risk of schizophrenia.

MATERIALS AND METHODS

In this study, the 1757-bp fragment (-1119-+600, TSS+1) of was amplified and sequenced in 198 schizophrenia patients and 264 healthy controls of the northern Chinese Han population. Allele, genotype and haplotype frequencies were analyzed by chi-square test.

RESULTS

Four SNPs were detected in the region. LD analysis determined that rs7515900 was linked to rs10917671 (D' = 1, r = 1). Therefore, the data for rs10917671 were eliminated from further analysis. Genotype TT of rs12041948 ( = 0.009, OR = 1.829, and 95% CI = 0.038-0.766) was significantly different between the two groups in the northern Chinese Han population. In males, genotype GG of rs6678136 ( = 0.009, OR = 2.292, and 95% CI = 1.256-4.18) and CC of rs7515900 ( = 0.003, OR = 2.523, and 95% CI = 1.332-4.778) were significantly different.

CONCLUSION

The results of this study suggested that genotype TT of rs12041948 in the pooled male and female samples and GG of rs6678136 and CC of rs7515900 in the male samples could be risk factors for schizophrenia. The present study is the first to detect an association between SNPs in the promoter region of the gene and the risk of schizophrenia in the northern Chinese Han population. Functional studies are required to confirm these findings.