Relationship between HLA class II gene polymorphism and schizophrenia

Objective: To investigate the genetic association of HLA class II DRB1, DQB1, DQA2 and DQB2 locus with schizophrenia in the Han people of Northern China. Methods: The polymerase chain reaction (PCR) and restrictive fragment length polymorphism (RELP) were applied to detect the gene types in the 195 Han family trios including patients with schizophrenia and their healthy parents in the north of China. The chi-square (χ ²) test, transmission disequilibrium test (TDT) and the haplotype relative risk (HRR) analysis were used to process the genotyping data statistically. Results: The genotypic frequency of four genes did not deviate from Hardy-Weinberg equilibrium in both case and control groups; The SNP rs2239800, a G to A base change, presented in the DQA2 locus. Its allelic frequencies showed significant difference between case and control (χ²=5.021, P=0.025). And the AA genotype of rs2239800 showed associations with schizophrenia. Conclusion: The polymorphism of rs2239800 in the DQA2 gene may be associated with schizophrenia.