School of Basic Medicine, Guangxi Medical University, Nanning, China.
Institute of Transplantation Medicine, The Second Affiliated Hospital of Guangxi Medical University. Guangxi Clinical Research Center for Organ Transplantation. Guangxi Key Laboratory of Organ Donation and Transplantation, Nanning, China.
Sci Rep. 2024 Sep 18;14(1):21765. doi: 10.1038/s41598-024-72688-2.
To investigate the genetic relationship between end stage renal disease (ESRD) and human leukocyte antigen (HLA) alleles in the Guangxi Zhuang population. We performed polymerase chain reaction reversed sequence-specific oligonucleotide (PCR-rSSO) in 325 patients with ESRD and genotyped the HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci. The direct counting method was used to determine the frequencies of HLA alleles, and Arlequin software (version 3.5.2.2) was used for haplotypic frequency analyses to compare the included ESRD patients with 350 healthy donors from the Guangxi Zhuang population. In our study, 120 HLA alleles, 284 HLA-A-B-DRB1 haplotypes, and 332 HLA-A-C-B-DRB1-DQB1 haplotypes were detected. We found that only A11:01-B15:02-DRB112:02 had a positive association with ESRD (P = 0.001, P = 0.020, OR = 3.106, 95% CI = 1.497-6.446) after Bonferroni correction; thus, individuals with this haplotype may be susceptible to ESRD. A11:01-B15:02-DRB112:02 is a potentially valuable haplotype for evaluating the risk of ESRD in the Guangxi Zhuang population.
为了研究广西壮族人群终末期肾病（ESRD）与人类白细胞抗原（HLA）等位基因之间的遗传关系。我们对 325 例 ESRD 患者进行了聚合酶链反应反向序列特异性寡核苷酸（PCR-rSSO）检测，并对 HLA-A、HLA-B、HLA-C、HLA-DRB1 和 HLA-DQB1 基因座进行了基因分型。采用直接计数法确定 HLA 等位基因频率，并用 Arlequin 软件（版本 3.5.2.2）进行单体型频率分析，将纳入的 ESRD 患者与 350 名来自广西壮族人群的健康供体进行比较。在本研究中，检测到 120 个 HLA 等位基因、284 个 HLA-A-B-DRB1 单体型和 332 个 HLA-A-C-B-DRB1-DQB1 单体型。我们发现，只有 A11:01-B15:02-DRB112:02 与 ESRD 呈正相关（P=0.001，P=0.020，OR=3.106，95%CI=1.497-6.446），经 Bonferroni 校正后；因此，具有该单体型的个体可能易患 ESRD。A11:01-B15:02-DRB112:02 是评估广西壮族人群 ESRD 风险的一个有潜在价值的单体型。
