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目的:研究人类白细胞抗原(human leukocyte antigen,HLA)多态性与慢性肾功能衰竭(chronic renal failure,CRF)的遗传易感性。方法:采用聚合酶链反应-序列特异引物(PCR-SSP)技术,对2002～2007年间来我室配型的377例汉族慢性肾功能衰竭患者以及1212例正常无血缘关系汉族人群进行HLA-A/B/DRB1/DQB1基因分型,并对其在CRF患者及正常人群中的基因频率、单倍型频率以及相对危险度(RR)等进行统计学分析。结果:疾病组HLA-A*02[RR(95%CI):1.3598(1.2345,1.4978)]、DRB1*04[RR(95%CI):1.3651(1.1052,1.6862)]、DRB1*12[RR(95%CI):1.3162(1.0824,1.6006)]、DQB1*0301[RR(95%CI):1.3434(1.1745,1.5367)]以及DQB1*0302[RR(95%CI):1.5330(1.1136,2.1104)]可能是慢性肾功能衰竭的易感基因,而HLA-A*11[RR(95%CI):0.5782(0.4978,0.6849)]、B*46[RR(95%CI):0.6580(0.4930,0.8082)]、DQB1*02[RR(95%CI):0.7452(0.5961,0.9317)]以及DQB1*05[RR(95%CI):0.7742(0.6470,0.9264)]可能是慢性肾功能衰竭的保护性基因。DRB1*11-DQB1*0301[RR(95%CI):1.5539(1.1896,2.0298)]、DRB1*12-DQB1*0301[RR(95%CI):1.3315(1.0869,1.6311)]、A*02-B*15[RR(95%CI):1.4654(1.0751,1.9973)]可能是慢性肾功能衰竭的易感单倍型型别。结论:慢性肾功能衰竭发生、发展与HLA基因型及其单倍型多态性有关,探讨该病与HLA多态性的易感性,对于研究CRF致病因素及治疗等具有一定意义。
Objective: To study the genetic susceptibility of human leukocyte antigen (HLA) polymorphism and chronic renal failure (CRF). Methods: PCR-SSP was used to detect the expression of HLA-A in 377 cases of Han patients with chronic renal failure and 1212 normal unrelated Han patients from 2002 to 2007 / B / DRB1 / DQB1 were genotyped and their frequency of gene, haplotype frequency and relative risk (RR) were analyzed statistically in patients with CRF and in normal population. Results: In the disease group, HLA-A * 02 [RR (95% CI): 1.3598 (1.2345,1.4978)], DRB1 * 04 [RR (95% CI): 1.3651 (1.1052,1.6862)], DRB1 * 12 [RR DQB1 * 0301 [RR (95% CI): 1.3434 (1.1745,1.5367)] and DQB1 * 0302 [RR (95% CI): 1.5330 (1.1136, 2.1104)] (95% CI): 0.5782 (0.4978,0.6849)], B * 46 [RR (95% CI): 0.6580 (0.4930, 0.8082)], and may be a susceptibility gene for chronic renal failure, ], DQB1 * 02 [RR (95% CI): 0.7452 (0.5961, 0.9317)] and DQB1 * 05 [RR (95% CI): 0.7742 (0.6470, 0.9264)] may be protective genes of chronic renal failure. DRB1 * 12-DQB1 * 0301 [RR (95% CI): 1.3315 (1.0869, 1.6311)], A * 02- B * 15 [RR (95% CI): 1.4654 (1.0751, 1.9973)] may be a susceptible haplotype pattern of chronic renal failure. Conclusion: The occurrence and development of chronic renal failure are related to HLA genotypes and haplotype polymorphisms. To explore the susceptibility of the disease to HLA polymorphism is of significance for studying the pathogenesis and treatment of CRF.