Polymorphisms of Transferrin gene are associated with schizophrenia in Chinese Han population.

Several recent studies have provided evidence that abnormalities in oligodendrocyte and myelin function may contribute to the etiopathology of schizophrenia. Transferrin (TF), an iron transport glycoprotein playing an important role in synthesis of myelin and the development of oligodendrocytes, has been identified as down-regulated expression in schizophrenia brain by microarray, quantitative PCR and in situ hybridization method. In order to further assess the role of TF in schizophrenia, we examined seven polymorphisms in TF region using a set sample of Chinese Han subjects consisting of 326 schizophrenia patients and 344 healthy controls. Four single nucleotide polymorphisms (SNPs) namely, rs4481157, rs3811655, rs6762415 and rs1405022 were analyzed in this study. Our results showed that one intronic SNP had strong association with schizophrenia (rs3811655: allele C>G, P=1.34E-6, OR=1.89, 95% CI=1.46-2.46; genotype P=3.72E-6). Two haplotypes A-C and G-G constructed of rs4481157-rs3811655 also revealed significant associations with schizophrenia (global P=0.0001). Our findings support that TF gene may be involved in susceptibility to schizophrenia in the Chinese Han population. However, further studies are needed to confirm these findings in other populations and to identify functional variants in TF that may be implicated in pathogenesis.