Some specific human leukocyte antigen (HLA)-DR/DQ haplotypes are more important than individual HLA-DR and -DQ phenotypes for the development of mucocutaneous type of Behçet's disease and for disease shift from recurrent aphthous stomatitis to mucocutaneous type of Behçet's disease

Abstract: The phenotype and haplotype frequencies of human leukocyte antigens (HLA)‐DR and ‐DQ in 32 Chinese patients with the mucocutaneous (MC) type of Behçet’s disease (BD) were calculated and compared with those in 310 healthy control Chinese and with those in 80 Chinese patients with recurrent aphthous stomatitis (RAS). We found that the phenotype frequency of HLA‐DRw8 [corrected P (P_c)<0.005] and the haplotype frequencies of HLA‐DRw8/DQw1 (P_c<0.005), ‐DRw8/DQw5(w1) (P_c<0.0005), ‐DRw12(5)/DQw1 (P_c<0.005), ‐DRw12(5)/DQw6(w1) (P_c< 0.0005), and ‐DRw52/DQw1 (P_c<0.005) in patients with the MC type of BD were significantly greater than those in healthy control subjects. This finding suggests that individual Chinese with HLA‐DRw8 antigen and HLA‐DRw8/DQw1, ‐DRw8/DQw5(w1), ‐DRw12(5)/DQw1, ‐DRw12(5)/DQw6(w1) and ‐DRw52/DQw1 haplotypes are more likely to have the MC type of BD. Furthermore, the relative risks (RRs) of HLA–DRw8/DQw1 (5.6), ‐DRw8/DQw5 (w1) (10.0), and ‐DRw12(5)/DQw6(w1) (14.4) haplotypes in patients with the MC type of BD were equal to or higher than the RR of HLA‐DRw8 phenotype (5.6), suggesting that some of the HLA‐DR/DQ haplotypes may play more important roles than the individual HLA‐DR and ‐DQ phenotypes for the development of the MC type of BD. The phenotype frequencies of HLA‐DR5 (P_c<0.01), ‐DRw8 (P_c<0.005) and ‐DQw1 (P_c<0.05) as well as the haplotype frequencies of HLA‐DR5/DQw1 (P_c<0.005) and ‐DRw8/DQw1 (P_c<0.00005) in patients with the MC type of BD were significantly higher than those in patients with RAS. Moreover, the RRs of HLA‐DR5/DQw1 (29.1) and ‐DRw8/DQw1 (47.4) haplotypes were greater than the RRs of HLA‐DR5 (10.4), ‐DRw8 (23.4) and ‐DQw1 (4.0) antigens. These results suggest that some specific HLA‐DR/DQ haplotypes may be more important than the individual HLA‐DR and ‐DQ phenotypes in the disease shift from RAS to the MC type of BD.