Human leukocyte antigen-A and -B alleles associated with α-thalassemia of Han ethnic population in Wuzhou City

Objective To investigate the relationship between HLA-A and HLA-B allele polymorphism and α-thalassemia of Han ethnic population in Wuzhou City of Guangxi.Methods By polymerase chain reactionsequence-based typing(PCR-SBT),the HLA-A,HLA-B genetic polymorphisms were determined in 126 patients with α-thalassemia(patient group) of Han ethnic and 173 healthy individuals as control group in Wuzhou City of Guangxi.The relative rick factor (odd ratio,OR) was calculated by allele frequency and haplotype frequency.Results The allele frequencies of HLA-A*33:03,HLA-B* 15:01 and HLA-B*55:02 in the patient group [15.48％ (39/252),3.17％ (8/252) and 6.75％ (17/252)] increased significantly compared with that of the control group [9.83％(34/346),0.29％(1/346) and 2.31％(8/346)]; the value of OR was 1.68,11.31 and 3.06,respectively (all P ＜ 0.05).The allele frequency of HLA-B*15:02 in patient group[7.54％(19/252)] was significantly lower than that in control group[12.72％(44/346)] ; the value of OR was 0.56(P ＜ 0.05).The haplotype frequencies of HLA-A* 11:01-B*55:02 and HLA-A*02:07-B*40:01 were significantly higher in patient group [2.38％ (6/252) and 1.59％(4/252)] than in control group[0.29％(1/346) and 0.00％(0/346)]; the value of OR was 8.41 and 11.16,respectively(all P ＜ 0.05).Conclusions HLA-A and HLA-B loci are highly polymorphisms.The allele frequencies of HLA-A*33:03,HLA-B*15:01,HLA-B*55:02 and HLA-B*15:02,and the haplotype frequencies of HLA-A* 11:01-B*55:02 and HLA-A*02:07-B*40:01 may be associated with susceptibility to α-thalassemia of Han ethnic population in Wuzhou City. Key words: Thalassemia;  Human leukocyte antigen;  Polymerase chain reaction;  Allele frequency;  Genetic susceptibility