HLA高分辨等位基因多态性及单倍体与广西汉族终末期肾病易感性的相关性分析  

Correlation Analysis of HLA High-resolution Allele Polymorphi-sms and Haplotypes with Susceptibility to End Stage Renal Dise-ase in Guangxi Han Population

作　　者：李海滨 孙煦勇 裴永峰 黄程新[1] 覃音红 董建辉 杨锦 王洪良 文宁 吴基华[1] 廖吉祥 李美思 LI Haibin;SUN Xuyong;PEI Yongfeng;HUANG Chengxin;QIN Yinhong;DONG Jianhui;YANG Jin;WANG Hongliang;WEN Ning;WU Jihua;LIAO Jixiang;LI Meisi(Transplant Medical Center of the Second Affiliated Hospital of Guangxi Medical University,Guangxi Key Laboratory of Organ Donation and Transplantation,Guangxi Transplantation Medicine Research Center of Engineering Technology,Nanning,Guangxi,530007,China;Department of Organ Transplantation,the 923 Hospital of PLA Joint Logistics Support Force,Guangxi Transplantation Medicine Research Center of Engineering Technology,Guangxi Key Laboratory for Transplantation Medicine,Nanning,Guangxi,530021,China)

机构地区：[1]广西医科大学第二附属医院移植医学中心,广西器官捐献与移植研究重点实验室,广西移植医学工程技术研究中心,广西南宁530007 [2]中国人民解放军联勤保障部队第九二三医院器官移植科,广西移植医学工程技术研究中心,广西移植医学重点实验室,广西南宁530021

出　　处：《广西科学》2022年第3期436-448,共13页Guangxi Sciences

基　　金：国家自然科学基金面上项目“ROS/JNK/AKT自噬通路参与ECMO对循环不稳定脑死亡供体的肝脏保护研究”(8167059)资助。

摘　　要：为研究广西汉族终末期肾病(End Stage Renal Disease,ESRD)与人类白细胞抗原(Human Leukocyte Antigen,HLA)等位基因及单倍体的关联性,本研究采用聚合酶链反应-序列特异性寡核苷酸(Polymerase Chain Reaction-Sequence Specific Oligonucleotides,PCR-SSO)技术对广西汉族578例终末期肾病患者(ESRD组)进行HLA-A、B和DRB1基因分型,HLA等位基因频率用直接计数法来计算,采用Arlequin 3.5.2.2软件计算单倍型频率,并与1644例广西汉族健康造血干细胞捐献者(对照组)比较。结果显示,ESRD组HLA-A 11:01、A 02:01、B 13:01、DRB112:02、DRB104:05、DRB114:54和DRB111:01的基因频率大于对照组(P<0.05),HLA-A 11:02、A 30:01、A 32:01、B 13:02、B 07:02、DRB107:01和DRB113:02的基因频率小于对照组(P<0.05)。ESRD组和对照组中频率最高的三位点单倍型都是A 33:03-B 58:01-DRB103:01。实验结果表明,广西汉族ESRD患者HLA-A、B和DRB1高频率的等位基因及单倍型与广西汉族健康人基本相同,其中HLA-A 11:01、A 02:01、B 13:01、DRB112:02、DRB104:05、DRB114:54和DRB111:01可能与广西汉族ESRD高发病风险相关;HLA-A 11:02、A 30:01、A 32:01、B 13:02、B 07:02、DRB107:01和DRB113:02可能与广西汉族ESRD低发病风险相关。In order to study the association between End Stage Renal Disease(ESRD)and Human Leukocyte Antigen(HLA)alleles and haploidies in Han nationality of Guangxi,in this study,Polymerase Chain Reaction-Sequence Specific Oligonucleotides(PCR-SSO)technique was used to genotype HLA-A,B and DRB1 genes in 578 patients with end-stage renal disease(ESRD group)of Han nationality in Guangxi,and the frequency of HLA alleles was calculated by direct counting method.The haplotype frequency was calculated by Arlequin(3.5.2.2)software and compared with 1644 healthy hematopoietic stem cell donors of Han nationality in Guangxi(control group).The results showed that the gene frequencies of HLA-A 11:01,A 02:01,B 13:01,DRB112:02,DRB104:05,DRB114:54 and DRB111:01 in ESRD group were higher than those in control group(P<0.05).The gene frequencies of HLA-A 11:02,A 30:01,A 32:01,B 13:02,B 07:02,DRB107:01 and DRB113:02,A 33:03-B 58:01-DRB103:01 were lower than those in the control group(P<0.05).The triplet haplotypes with the highest frequency in both ESRD group and control group were A 33:03-B 58:01-DRB103:01.The experimental results showed that the alleles and haplotypes of HLA-A,B and DRB1 in ESRD patients of Han nationality in Guangxi were basically the same as those in healthy people of Han nationality in Guangxi,and HLA-A 11:01,A 02:01,B 13:01,DRB112:02,DRB104:05,DRB114:54和DRB111:01 might be associated with the high risk of ESRD in Guangxi Han nationality.HLA-A 11:02,A 30:01,A 32:01,B 13:02,B 07:02,DRB107:01和DRB113:02 might be associated with the low risk of ESRD in Guangxi Han population.

关 键 词：终末期肾病 广西汉族 人类白细胞抗原 基因频率 单倍型 

分 类 号：R392.4[医药卫生—免疫学]