Association between ESR1 gene polymorphisms and haplotypes with schizophrenia

Abstract

Objective: To assess the association between single nucleotide polymorphisms (SNPs) and haplotypes of estrogen receptor 1 (ESR1) gene with schizophrenia. Methods: Three SNPs (rs2234693, rs9340799 and rs3798759) were determined in 333 schizophrenic patients and 315 healthy subjects with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Allelic and genotypic frequencies and particular haplotypes were compared between the two groups using Chi-square test. Results: The allelic and genotypic frequencies of rs2234693 and rs9340799 showed no significant difference between the two groups (P>0.05). However, a significant difference was detected in the frequencies of rs3798759 G allele and GG genotype between the two groups (P<0.01). Single factor analysis stratified by sex also found that frequencies of rs3798759 GG and TG genotypes and G allele were significantly higher in female schizophrenia patients compared with healthy females (P<0.05). Haplotypes C-A-G and C-G-G were more common in schizophrenia group (P<0.05). Conclusion: rs3798759 polymorphisms may be a risk factor for female patients with schizophrenia, and haplotypes C-A-G and C-G-G may be risk factors for schizophrenia.