中国汉族人群蚕蚀性角膜溃疡与HLA等位基因的相关性研究  

Association of Mooren’s ulcer and HLA alleles in Chinese Han population

作　　者：王青松[1] 袁进[1] 周世有[1] 陈家祺[1] 

机构地区：[1]中山大学中山眼科中心国家眼科重点实验室,广州510060

出　　处：《眼科研究》2009年第4期316-318,共3页Chinese Ophthalmic Research

基　　金：国家自然科学基金(30700929);卫生部临床重点学科项目(2004-468)资助

摘　　要：目的探讨中国汉族人群蚕蚀性角膜溃疡与人类白细胞抗原(HLA)基因的相关性。方法根据典型形态特征,结合病史、体格检查和实验室检查确诊蚕蚀性角膜溃疡患者,提取17例中国汉族蚕蚀性角膜溃疡患者基因组DNA。采用序列特异性引物-聚合酶链反应(PCR-SSP)法进行HLA基因分型。结果在蚕蚀性角膜溃疡组和正常对照组中,HLA-DR17(3)基因频率分别为29.41%和5.58%(P<0.01,RR=7.05);HLA-DQ2基因频率分别为29.41%和12.34%(P=0.005,RR=6.77);HLA-DQ5基因频率分别为14.71%和15.33%(P=0.922,RR=0.95);HLA-A33基因频率分别为23.53%和8.95%(P=0.003,RR=3.13)。HLA-B58基因频率分别为20.59%和6.91%(P=0.002,RR=3.49);HLA-DQ0303基因频率分别为29.41%和5.79%(P<0.01,RR=2.96)。结论中国汉族人群中HLA-DR17(3)和HLA-DQ2与蚕蚀性角膜溃疡的致病密切相关,与HLA-DQ5无相关性。研究同时发现HLA-A33、HLA-B58和HLA-DQ0303与蚕蚀性角膜溃疡致病可能密切相关。Objective Auto-immunology plays an important role in the patuogennesis of Mooren＇s ulcer. Recently, researches showed that human leucocyte antigens （HLA） allele is related to Mooren＇ s ulcer. This study was to investigate the association between Mooren＇ s ulcer and HLA alleles in Chinese Han population. Methods A total of 17 patients with Mooren＇ s ulcer were collected from the same ethnic group（ Han nationality） and different parts of China. And the diagnosis of Mooren＇ s ulcer was determined based on the typical ulcer findings, history, and physical examination of eye and relavant laboratory tests. HLA typing（ HLA-A, B, DR, DQ ） was performed by polymerase chain reaction（ PCR ） using sequence specific primers（PCR-SSP）. Their HLA typing results were compared with published data from control populations of the same ethnic group. Results The frequency of HLA-DRI7 （3） in Mooren＇ s ulcer patients was 29.41% ,and that of control population was 5.58% with a statistically significant difference （ RR = 7.05, P 〈 0.01 ）. The frequency of HLA-DQ2 in Mooren＇ s ulcer patients was 29.41% , and that of controls was 12.34% , showing a considerable difference between them （ RR = 6.77, P = 0. 005 ）. The frequency of HLA-DQ5 in Mooren＇ s ulcer patients was 14.71% without significant difference in comparison with controls （15.33%） （RR = 0. 95, P = 0. 922 ）. The frequency of HLA-A33 was significantly increasesd in Mooren＇ s ulcer patients （23.53%） compared with controls（ 8.95% ）（ RR = 3. 13, P = 0. 003 ）. A significant difference was also found in frequencies of HLA-B58 and HLA-DQ0303 between patients （ 20.59 % , 29.41% ） and controls （ 6.91% , 5.79 % ） （ RR = 3.49, P = 0. 002 ; RR = 2.96,P 〈 0. 001 ）. Conclusion Our data support the possible linkage of HLA-DR17 （ 3 ） , HLA-DQ2 gene with Mooren＇ s ulcer. No significant association is found between HLA-DQ5 and Mooren＇ s ulcer in Chinese Han nationality. HLA-A33,HLA-B58 and HLA-DQ0303 genes

关 键 词：蚕蚀性角膜溃疡 人类白细胞抗原 中国汉族人群 

分 类 号：R772.21[医药卫生—眼科]