人类白细胞抗原DRB1基因多态性与骨髓增生异常综合征和再生障碍性贫血的相关性  

Association of HLA DRB1 polymorphism with susceptibility to myelodysplastic syndrome and aplastic anemia in Chinese Han population

作　　者：霍明瑞[1] 于燕[1] 刘海燕[1] 郗斌[1] 黄晓军[1] 李丹[1] 

机构地区：[1]北京大学人民医院北京大学血液病研究所HLA配型室,100044

出　　处：《中华医学遗传学杂志》2011年第3期296-299,共4页Chinese Journal of Medical Genetics

基　　金：教育部创新团队发展计划基金（IRT0702）;国家高科技研究发展项目（863计划）（2006AA02A405）

摘　　要：目的探讨人类白细胞抗原 （human leukocyte antigen, HLA）DRB1等位基因多态性与骨髓增生异常综合征（myelodysplastic syndrome, MDS）和再生障碍性贫血（aplastic anemia，AA）的关联性。方法采用序列特异性引物聚合酶链反应（polymerase chain reaction-sequence specific primer, PCR-SSP）DNA分型技术对242例MDS和115例AA患者及2264名正常对照进行了HLA—DRB1基因分型。结果MDS患者和AA患者的HLA—DRB1＊15等位基因频率都明显高于正常对照组（22．93％vs．17．25％，x2=9．662，OR=1．428，P=0．003；26．52％vs．17．25％，x2=12．924，OR=1．732，P=0．001）。另外MDS和AA的男性患者的DRB1＊15都明显高于正常组（24．68％vs．17．25％，x2=194，OR：1．572，P=0．001；29．29％vs．17．25％，x2=13．563，OR=1．987，P=0．001），而女性患者差异并没有统计学意义。结论MDS和AA的男性患者DRB1＊15等位基因频率都明显高于正常人群，HLA—DRB1＊15可能是男性MDS和AA患者的易感基因。Objective To investigate the association of the HLA-DRB1 polymorphism with susceptibility to myelodysplastic syndrome （MDS） and aplastic anemia （AA） in Chinese Han population. Methods The polymorphism of HLA DRB1 alleles in 242 patients with MDS, 115 patients with AA and 2264 umbilical cord blood control samples were tested by polymerase chain reaction- sequence specific primer （PCR-SSP）. Results Compared with normal controls, the frequency of HLA-DRB1 ＊15 was significantly increased in the MDS group and AA group （22. 93% vs. 17.25%, X2=9. 662, OR=1.428, P=0. 003; 26.52% vs. 17.25%,x2=12. 924, OR=1. 732, P=0. 001）. And this is mainly due to the increase in the male patients in both patient groups： in the MDSmales, 24.68% vs. 17.25%, X2=11.194, OR=1.572, P=0. 001, and in the AA males, 29. 29% vs. 17. 25%, X2 =13. 563, OR=1. 987, P=0. 001. No significant difference between the controls and the female patients in both groups was observed. Conclusion The HLA-DRB1＊ 15 could be a susceptibility allele for MDS and AA male patients.

关 键 词：人类白细胞抗原DRB1基因 骨髓增生异常综合征 再生障碍性贫血 遗传多态性 

分 类 号：R556.5[医药卫生—血液循环系统疾病] R551.3[医药卫生—内科学]