Objective: To investigate the correlation between the human leukocyte antigen (HLA) DRB1 and the aplastic anemia (AA).
Methods: A total of 243 Han ethnic people in Xinjiang were enrolled for this study. Among them, 43 people were diagnosed as AA and the other 200 were healthy controls. All the blood samples of the 243 people were tested by polymerase chain reaction-sequence specific primer (PCR-SSP) DNA typing techniques. Then their allele frequencies were compared by the statistical analysis of x(2); test to study the correlation between the HLA-DRB1 gene polymorphism and the AA in Xinjiang.
Results: The HLA-DRB1 allele frequency distributions in AA patients and healthy controls were similar, that was, DRB1*15 allele frequency was highest, while DRB1*4, DRB1*7, DRB1*9, DRB1*12 expressions were higher, and the lowest frequency was DRB1*17. The frequency of HLA-DRB1*8 allele in the AA group (13.73%) was significantly higher than that in healthy controls (6.99%) (OR=2.202, P<0.05). The frequency of HLA-DRB1*12, DRB1*14 alleles were lower in AA group than in healthy control group, but the difference was not statistically significant (P>0.05). However, compared with the healthy control group, the female AA patients had a lower frequency of HLA-DRB1*12 allele (5.41% vs 10.00%, OR=0.2079, P<0.05) and the male AA cases had a lower HLA-DRB1*14 allele (2.11% vs 7.53%, OR=0.1403, P<0.05); The frequency of HLA-DRB1*15 allele in female AA patients was significantly higher than that in healthy control group (27.45% vs 14.56%, OR=2.433, P<0.05).
Conclusion: The HLA-DRB1*8 could be a susceptibility allele for AA. The HLA-DRB1*12 and the HLA-DRB1*14 could be the antagonistic alleles for female and male AA patients, respectively. The HLA-DRB1*15 could be a susceptibility allele for the female AA patients.