Association study of GFAP Polymorphisms with schizophrenia in Han Chinese population

Abstract INTRODUCTION Glial fibrillary acidic protein (GFAP) is considered to be an astrocyte activation marker. Alterations in structural and functional molecules expressed by astrocytes may play a role in the pathophysiology of schizophrenia (SCZ). In the present study, the single nucleotide polymorphisms (SNPs) of GFAP were analyzed for association with schizophrenia in Han population. METHODS Three tag SNPs within GFAP were genotyped in 629 SCZ patients and 655 healthy controls in the Han Chinese population.The schizophrenia database(SCZB) was used to investigate whether GFAP is differentially expressed in the brain regions of schizophrenia and healthy control individuals.In addition, expression quantitative trait loci(eQTL) analysis was used to investigate differential GFAP expression between different genotypes. RESULTSIt was shown that the rs3785891 GFAP polymorphism may be associated with schizophrenia ( p =0.04). There were no significant differences in the expression of hippocampal, prefrontal cortex or cortical GFAP between schizophrenia patients and control individuals. Furthermore,the brain eQTL analysis revealed a significant association between the rs3785891 polymorphism and GFAP expression in the intralobular white matter ( p = 0.04), thalamus ( p =0.024), hippocampus ( p =0.011), and occipital cortex ( p =0.0075). CONCLUSIONS This study shows that rs3785891 may be linked to schizophrenia susceptibility in the Han population. Further study is required for clarification the role of genetic variation around these SNPs in expression pattern of the GFAP gene, which may be involved in schizophrenia pathogenesis.