Yang Rui, Cui Zhao, Zhao Juan, Zhao Ming-Hui
Renal Division, Department of Medicine, Peking University First Hospital, Institute of Nephrology, Peking University, Key Laboratory of Renal Disease, Ministry of Health of China, Beijing 100034, China.
Clin Immunol. 2009 Nov;133(2):245-50. doi: 10.1016/j.clim.2009.07.005. Epub 2009 Aug 4.
Anti-glomerular basement membrane (GBM) disease, a rare autoimmune disorder, is associated with HLA-DR15 genotype in Caucasian and Japanese populations. But the distribution of HLA-DRB1 alleles in Chinese patients with anti-GBM disease and their association with clinical characteristics of anti-GBM disease are to be determined. The present study analyzed the HLA-DRB1 alleles by sequence based typing in 44 Chinese patients with anti-GBM disease and 200 healthy controls. The effects of DRB1 alleles on susceptibility to anti-GBM disease were examined by a relative predispositional effects (RPEs) method. The clinical and pathological data of the patients were collected and analyzed. The DRB11501 allele was significantly associated with anti-GBM disease (p=1.597 x 10(-7)). The RPEs test also showed a significant increased frequency of DRB10404 in anti-GBM disease (p=0.037). Interestingly, the patients with DRB11501 or 0404 had more crescent formation in glomeruli than those without the two alleles (p=0.021). But the DRB10404 was rare in both patients and control groups, which indicates that the importance of the 0404 allele is limited in anti-GBM disease. We conclude that the HLA-DRB11501 allele is a genetic marker for susceptibility to anti-GBM disease.
抗肾小球基底膜（GBM）病是一种罕见的自身免疫性疾病，在白种人和日本人群中与HLA - DR15基因型相关。但中国抗GBM病患者中HLA - DRB1等位基因的分布及其与抗GBM病临床特征的关联尚待确定。本研究采用序列分型法分析了44例中国抗GBM病患者和200例健康对照者的HLA - DRB1等位基因。通过相对易感性效应（RPEs）方法检测DRB1等位基因对抗GBM病易感性的影响。收集并分析了患者的临床和病理数据。DRB11501等位基因与抗GBM病显著相关（p = 1.597×10（-7））。RPEs检测还显示抗GBM病患者中DRB10404的频率显著增加（p = 0.037）。有趣的是，携带DRB11501或0404的患者肾小球新月体形成比未携带这两个等位基因的患者更多（p = 0.021）。但DRB10404在患者组和对照组中均罕见，这表明0404等位基因在抗GBM病中的重要性有限。我们得出结论，HLA - DRB11501等位基因是抗GBM病易感性的遗传标志物。
