Abstract:  Objective · To investigate the correlation of single nucleotide polymorphism (SNP) of complement factor H (CFH) gene with schizophrenia in Chinese Han population.  Methods · The genotype, allele, and haplotype frequencies of 5 SNP loci (rs800292, rs1061170, rs10801555, rs10922096 and rs2019727) in CFH gene were compared between 418 patients with schizophrenia (case group) and 655 normal people (control group) by SNaPshot technique.  Results · All SNP loci were well genotyped in the subjects. Correlation analysis showed that rs1061170 locus allele frequency distribution difference between case group and control group was statistically significant (corrected P=0.045), while genotype and allele frequencies of other SNP loci were not significantly different (all corrected P>0.05). The frequency of haplotype C-A-T-A-A (rs800292-rs1061170-rs10801555-rs10922096-rs2019727) in case group was different from that in control group (corrected P=0.013).  Conclusion · The allele polymorphisms of rs1061170 and the haplotype C-AT-A-A of rs800292-rs1061170-rs10801555-rs10922096-rs2019727 may be associated with schizophrenia in Chinese Han population.

Key words: schizophrenia, complement factor H gene, single nucleotide polymorphism, transmission disequilibrium, haplotype