Association of primary sclerosing cholangitis with HLA-DRw52a.
Association of primary sclerosing cholangitis with HLA-DRw52a.
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原发性硬化性胆管炎与 HLA-DRw52a 的关联。
DOI：
10.1056/nejm199006283222603
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发表时间：
1990
期刊：
影响因子：
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通讯作者：
R. Busuttil
中科院分区：
文献类型：
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作者：
E. Prochazka;P. Terasaki;M. Park;L. Goldstein;R. Busuttil
我们试图确定原发性硬化性胆管炎或原发性胆汁性肝硬化患者中是否存在特定的HLA单倍型。令人惊讶的是，29例原发性硬化性胆管炎患者中100%具有HLA-DRw 52 a抗原，该抗原通常存在于35%的人群中（相对危险度，109.5; P <0.00001）。其中15例患者有一个共同的单倍型：A1，B8，Cw 7，DRw 17，DQw 2，DRw 52 a。在其余17例患者中，至少有一种抗原丢失。在15名具有共同单倍型的患者中，12名也患有溃疡性结肠炎，从而将原发性硬化性胆管炎患者中溃疡性结肠炎的发生与该单倍型的存在联系起来。尽管35例原发性胆汁性肝硬化患者与特定HLA单倍型之间无相关性，但与DRw 8有显著相关性（相对危险度，3.1; P = 0.02）。我们的结论是原发性硬化性胆管炎的发展涉及一个强大的遗传易感性。由于原发性硬化性胆管炎与HLA-DRw 52 a的相关性似乎是完全的，HLA分型应该有助于鉴别这种疾病与原发性胆汁性肝硬化。
We sought to determine whether there are specific HLA haplotypes in patients with either primary sclerosing cholangitis or primary biliary cirrhosis. Surprisingly, 100 percent of the 29 patients with primary sclerosing cholangitis had the HLA-DRw52a antigen, which is normally present in 35 percent of the population (relative risk, 109.5; P less than 0.00001). Fifteen of these patients had a single common haplotype: A1,B8,Cw7,DRw17,DQw2,DRw52a. In the remaining 17 patients there was a loss of at least one of these antigens. Of the 15 patients with the common haplotype, 12 also had ulcerative colitis, thereby linking the occurrence of ulcerative colitis in patients with primary sclerosing cholangitis to the presence of this haplotype. Although there was no association in 35 patients between primary biliary cirrhosis and specific HLA haplotypes, there was a significant association of the disease with DRw8 (relative risk, 3.1; P = 0.02). We conclude that the development of primary sclerosing cholangitis involves a strong genetic predisposition. Since the association of primary sclerosing cholangitis with HLA-DRw52a appears to be total, HLA typing should be helpful in differentiating this disease from primary biliary cirrhosis.