山东半岛地区慢性肾衰竭患者HLA-A、B、DRB1等位基因多态性研究  

Polymorphism study of HLA-A,B,DRB1 alleles in patients with chronic renal failure,in Shandong Peninsula

作　　者：王蓉[1] 陈淑敏[1] 邵长峰[1] 鞠强 李萍[1] 王海燕[1] WANG Rong;CHEN Shumin;SHAO Changfeng;JU Qiang;LI Ping;WANG Haiyan(Department of Blood Transfusion,the Affiliated Hospital of Qingdao University,Qingdao 266000,China)

机构地区：[1]青岛大学附属医院输血科,山东青岛266000

出　　处：《中国输血杂志》2022年第8期832-836,共5页Chinese Journal of Blood Transfusion

基　　金：山东省自然科学基金青年项目(ZR2020QH201);山东省自然科学基金面上项目(ZR2017MH042);山东省医药卫生科技发展计划(2019WS374)。

摘　　要：目的探讨山东半岛地区汉族人群HLA-A、B、DRB1等位基因与慢性肾衰竭(CRF)的相关性。方法采用序列特异性寡核苷酸探针-聚合酶链式反应法(PCR-SSO)对山东半岛地区汉族人群880例CRF患者进行HLA-A、B、DRB1等位基因分型,与865名无血缘关系造血干细胞志愿捐献的健康汉族个体等位基因频率进行比较,分析HLA基因多态性与CRF的相关性。结果CRF患者组共检出HLA-A等位基因33个,HLA-B等位基因76个,HLADRB1等位基因39个;DRB1^(*)11∶01(6.70%vs 4.45%)和DRB1^(*)12∶02(8.69%vs 5.90%)等位基因频率显著高于对照组(Pc<0.05);B^(*)15∶11等位基因频率显著低于对照组(1.82%vs 3.64%,Pc<0.05);CRF患者组三座位单体型A^(*)30∶01-B^(*)13∶02-DRB1^(*)07∶01(16.61%vs 7.61%)、A^(*)33∶03-B^(*)58∶01-DRB1^(*)03∶01(4.57%vs 1.62%)和A^(*)02∶07-B^(*)46∶01-DRB1^(*)09∶01(4.06%vs 1.09%)显著高于对照组(Pc<0.05),与CRF的发生呈强相关。结论本次研究首次获得山东半岛地区HLA等位基因及单体型多态性与山东半岛地区CRF相关性的资料,DRB1^(*)11∶01和DRB1^(*)12∶02可能是山东半岛地区汉族人群CRF的易感基因,B^(*)15∶11可能是其保护基因;A^(*)30∶01-B^(*)13∶02-DRB1^(*)07∶01、A^(*)33∶03-B^(*)58∶01-DRB1^(*)03∶01和A^(*)02∶07-B^(*)46∶01-DRB1^(*)09∶01可能是山东半岛地区汉族人群CRF的易感单体型。Objective To investigate the association between HLA-A,B,DRB1 alleles and chronic renal failure(CRF)in Han population of Shandong Peninsula.Methods Sequence specific oligonucleotide probe-polymerase chain reaction(PCRSSO)was used to genotype 880 patients with CRF in the Han population of Shandong Peninsula.The allele frequencies of HLAA,B and DRB1 were compared with 865 hematopoietic stem cell voluntary donors,and the association between HLA gene polymorphism and CRF was analyzed.Results A total of 33 HLAA alleles,76 HLA-B alleles and 39 HLA-DRB1 alleles were detected in the study group.DRB1^(*)11∶01(6.70%vs 4.45%)and DRB1^(*)12∶02(8.69%vs 5.90%)in CRF group were significantly higher than those in the control(Pc<0.05),and B^(*)15∶11(1.82%vs 3.64%)among CRF group was significantly lower compared with the control(Pc<0.05).The frequency of three loci haplotypes A^(*)30∶01-B^(*)13∶02-DRB1^(*)07∶01(16.61%vs 7.61%),A^(*)33∶03-B^(*)58∶01-DRB1^(*)03∶01(4.57%vs 1.62%)and A^(*)02∶07-B^(*)46∶01-DRB1^(*)09∶01(4.06%vs 1.09%)in CRF patients were significantly higher than that of the control(Pc<0.05),which were strongly correlated with CRF.Conclusion The data on the association of HLA-A,B,DRB1 alleles and haplotype polymorphisms with CRF in Shandong Peninsula has been obtained in this study.DRB1^(*)11∶01 and DRB1^(*)12∶02 may be the susceptibility risk factors for development of CRF,and B^(*)15∶11 may be protective genes against development of CRF,and A^(*)30∶01-B^(*)13∶02-DRB1^(*)07∶01,A^(*)33∶03-B^(*)58∶01-DRB1^(*)03∶01 and A^(*)02∶07-B^(*)46∶01-DRB1^(*)09∶01 may be the susceptible haplotypes in Han population of Shandong Peninsula.

关 键 词：慢性肾衰竭 人类白细胞抗原 多态性 等位基因 单体型 

分 类 号：R457.1[医药卫生—治疗学] R692.5[医药卫生—临床医学]