HLA polymorphism and susceptibility to end-stage renal disease in Cantonese patients awaiting kidney transplantation.
HLA polymorphism and susceptibility to end-stage renal disease in Cantonese patients awaiting kidney transplantation.
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等待肾移植的广东患者HLA多态性与终末期肾病易感性
DOI：
10.1371/journal.pone.0090869
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Chen P
中科院分区：
文献类型：
--
作者：
Cao Q;Xie D;Liu J;Zou H;Zhang Y;Zhang H;Zhang Z;Xue H;Zhou J;Chen P
终末期肾病（End-Stage Renal Disease，ESRD）是一个全球性的公共卫生问题。目前，许多全基因组关联研究通过揭示人类白细胞抗原（HLA）与肾小球肾炎之间的因果关系，提示HLA与ESRD之间存在潜在关联。然而，以前的研究，调查HLA多态性及其与ESRD的关联，进行了适度的数据集，因此可能是有限的。另一方面，针对中国ESRD人群的研究很少。因此，本研究的目的是检测HLA多态性与终末期肾病的易感性在广东社区，中国南方的代表性人口。方法随机抽取同一地区4541例等待肾移植的终末期肾病患者和3744例健康志愿者骨髓供者作为对照。采用聚合酶链反应-序列特异性引物法检测ESRD患者和对照组的HLA基因多态性（包括HLA-A、HLA-B和HLA-DRB 1位点）。比较ESRD患者和对照组之间这些基因座和单倍型的等位基因频率。结果共检测到88种HLA等位基因和1361种HLA A-B-DRB 1单倍型。ESRD患者HLA-A*24、HLA-B*55、HLA-B*54、HLA-B*40（60）、HLA-DRB 1 *04 5种等位基因频率和HLA-A*11-B*27-DRB 1 *04 1种单倍型频率均显著高于对照组。结论HLA-A、HLA-B和HLA-DRB 1位点的5个等位基因和1个单倍型与广东人群ESRD相关。
Background End-Stage Renal Disease (ESRD) is a worldwide public health problem. Currently, many genome-wide association studies have suggested a potential association between human leukocyte antigen (HLA) and ESRD by uncovering a causal relationship between HLA and glomerulonephritis. However, previous studies, which investigated the HLA polymorphism and its association with ESRD, were performed with the modest data sets and thus might be limited. On the other hand, few researches were conducted to tackle the Chinese population with ESRD. Therefore, this study aims to detect the susceptibilities of HLA polymorphism to ESRD within the Cantonese community, a representative southern population of China. Methods From the same region, 4541 ESRD patients who were waiting for kidney transplantation and 3744 healthy volunteer bone marrow donors (controls) were randomly chosen for this study. Polymerase chain reaction-sequence specific primer method was used to analyze the HLA polymorphisms (including HLA-A, HLA-B and HLA-DRB1 loci) in both ESRD patients and controls. The frequencies of alleles at these loci and haplotypes were compared between ESRD patients and controls. Results A total of 88 distinct HLA alleles and 1361 HLA A-B-DRB1 haplotypes were detected. The frequencies of five alleles, HLA-A*24, HLA-B*55, HLA-B*54, HLA-B*40(60), HLA-DRB1*04, and one haplotype (HLA-A*11-B*27-DRB1*04) in ESRD patients are significantly higher than those in the controls, respectively. Conclusions Five HLA alleles and one haplotype at the HLA-A, HLA-B and HLA-DRB1 loci appear to be associated with ESRD within the Cantonese population.