HLA-DQA1、-DQB1基因多态性与高原红细胞增多症的相关性研究

Investigation for association between HLA-DQA1,-DQB1 gene polymorphism and HAPC susceptibility in Chinese Han nationality at Qinghai plateau

目的:探讨移居高原汉族男性人群HLA-DQA1、-DQB1基因多态性是否与其发生高原红细胞增多症(HAPC)的易感性相关联。方法:以60例移居高海拔地区男性HAPC患者和60例移居同地区健康男性为研究对象,应用聚合酶链反应-序列特异性引物(PCR-SSP)技术进行HLA-DQA1、-DQB1基因分型,并使用SPSS软件分析HLA-DQA1、-DQB1多态性的分布频率及其组间差异。结果:移居高海拔地区的HAPC患者组的HLA-DQA1*0401和*0501分布频率分别为0.125 0和0.258 3;而同地区健康对照组HLA-DQA1*0401和*0501分布频率分别为0.041 7和0.158 3。与对照组相比,HAPC组HLA-DQA1*0401相对危险性为3.67,校正P值<0.05;*0501危险性为2.31,校正P值<0.05。而HAPC组和对照组在DQA1*0101/0104、DQA1*0103、DQB1*0201、DQB1*0601等位基因未显示显著性差异。结论:HLA-DQA1*0401、*0501位点可能与HAPC的易感性关联。

Objective：To explore whether HLA-DQA1,-DQB1 gene polymorphisms are associated with the susceptibility of High Altitude Polycythemia（HAPC） in Chinese Han nationality immigrated to plateau area.Methods：Peripheral blood samples from 60 male patients with High Altitude Polycythemia（HAPC） and 60 healthy male individuals from the same area with HAPC group were used to genotype HLA-DQA1,-DQB1 genes with polymerase chain reaction using sequence specific primer（PCR-SSP）.The frequency distributions of genotypes between two groups were analyzed by SPSS software.Results：The frequencies of HLA-DQA1＊0401 and HLA-DQA1＊0501 alleles in the HAPC patient group were 0.125 0（OR=3.67,Pc〈0.05） and 0.258 3（OR=2.31,Pc〈0.05） respectively,whereas the frequencies of those were 0.041 7 and 0.158 3 respectively in the control group.That indicated the distribution frequencies of HLA-DQA1＊0401 and HLA-DQA1＊0501 alleles in HAPC patients were significantly higher than those in control group.In addition,there were no frequency differences in DQA1＊0101/0104,DQA1＊0103,DQB1＊0201,DQB1＊0601 alleles.Conclusion：HLA-DQA1＊0401,＊0501 alleles may increase the risk of HAPC susceptibility.HLA-DQA1 gene polymorphisms may be one of the genetic predisposing factors in the onset of HAPC.