Karakus Turan Burcu, Ucar Fahri, Yilmaz Vural Taner, Kilinc Yahya, Darbaş Aras Sule, Kocak Huseyin, Sayin Ekinci Nurten, Aydinli Bulent, Arslan Habibe Sema
Akdeniz University School of Medicine, Departmant of Medical Biology and Genetics, Antalya, Turkey.
Akdeniz University Faculty of Medicine, Depertmant of Internal Medicine, Division of Nephrelogy Antalya, Turkey.
Medeni Med J. 2024 Dec 27;39(4):243-253. doi: 10.4274/MMJ.galenos.2024.89801.
Chronic kidney disease (CKD) is a prominent public health concern, is defined as functional and structural damage to the kidneys. This study aims to investigate the association between human leukocyte antigen (HLA) alleles individuals with CKD and the different etiological subgroups of diesease.
Genomic DNA was obtained from peripheral blood samples of 1,079 patients with retrospective CKD and 1,111 healthy control individuals. HLA genotyping was conducted using the Luminex based low-resolution method. Allele frequency distributions were calculated with the help of Arlequin v3.11 population genetics statistics program and SPSS v23.0 program, and p<0.05 values were accepted as significant by chi-square tests.
HLA A02 (21.83%), B35 (18.30%), DRB111 (21.41%) alleles were observed most frequently in individuals with CKD, respectively. In our study, B08, B49, B50 alleles in the HLA B locus (p=0.002, p=0.012 p=0.009) and DRB103, 04 alleles in the HLA DRB1 locus (p<0.001, p<0.001) were found positively associated with CKD. A02, A11, A74 alleles at the HLA A locus (p=0.003, p<0.001, p=0.009) and B27, B39, B alleles at the HLA B locus 40, B59 (p<0.001, p<0.001, p<0.001, p=0.009), DRB107, *08, *09, *13, 16 (p<0.001, p=0.012, p=0.007, p<0.001, p<0.001) alleles were determined as negatively associated with the disease. Among the etiological groups of CKD, cystic kidney disease (36.8%), hypertension (16.8%) and urological anomalies (16.6%) were negatively associated with the HLA-DR13 allele.
Since CKD shows serious morbidity and mortality, this comprehensive study of HLA subgroups gave an explanatory idea about which alleles associated with the disease in terms of susceptibility and protection.
慢性肾脏病（CKD）是一个突出的公共卫生问题，被定义为肾脏的功能和结构损伤。本研究旨在调查慢性肾脏病患者的人类白细胞抗原（HLA）等位基因与该疾病不同病因亚组之间的关联。
从1079例回顾性慢性肾脏病患者和1111例健康对照个体的外周血样本中获取基因组DNA。使用基于Luminex的低分辨率方法进行HLA基因分型。借助Arlequin v3.11群体遗传学统计程序和SPSS v23.0程序计算等位基因频率分布，通过卡方检验，p<0.05的值被认为具有显著性。
在慢性肾脏病患者中，HLA A02（21.83%）、B35（18.30%）、DRB111（21.41%）等位基因的出现频率最高。在我们的研究中，发现HLA B位点的B08、B49、B50等位基因（p=0.002，p=0.012，p=0.009）以及HLA DRB1位点的DRB103、04等位基因（p<0.001，p<0.001）与慢性肾脏病呈正相关。HLA A位点的A02、A11、A74等位基因（p=0.003，p<0.001，p=0.009）以及HLA B位点的B27、B39、B40、B59等位基因（p<0.001，p<0.001，p<0.001，p=0.009）、DRB107、*08、*09、*13、16等位基因（p<0.001，p=0.012，p=0.007，p<0.001，p<0.001）被确定与该疾病呈负相关。在慢性肾脏病的病因组中，多囊肾病（36.8%）、高血压（16.8%）和泌尿系统异常（16.6%）与HLA-DR13等位基因呈负相关。
由于慢性肾脏病具有严重的发病率和死亡率，这项对HLA亚组进行的全面研究就易感性和保护性方面，给出了关于哪些等位基因与该疾病相关的解释性观点。
