Manns M P, Bremm A, Schneider P M, Notghi A, Gerken G, Prager-Eberle M, Stradmann-Bellinghausen B, Meyer zum Büschenfelde K H, Rittner C
Department of Medicine I, University of Mainz, Germany.
Gastroenterology. 1991 Nov;101(5):1367-73. doi: 10.1016/0016-5085(91)90090-8.
HLA class I, II, and III alleles were investigated in 25 consecutive unrelated German patients with primary biliary cirrhosis and in two families with two primary biliary cirrhosis patients in each. In primary biliary cirrhosis patients, HLA class I antigens did not differ significantly from in health controls. For HLA class II antigens, a highly significant increase of HLA DRw8 was found in patients with primary biliary cirrhosis compared with controls. Thirty-six percent vs. 3.6% were DRw8 positive [relative risk = 15.28; P (corrected) = 0.00013]. The genetic typing of HLA class III alleles revealed an increased incidence for C4AQ0 alleles [72% vs. 34.5%, relative risk = 4.89: P (corrected) = 0.0056]. A highly significant proportion of primary biliary cirrhosis patients carrying both DRw8 and C4A-Q0 alleles (relative risk = 183.75; P = 9.7 x 10(-7)) were found. In one family, a mother and her daughter had primary biliary cirrhosis, both sharing the major histocompatibility complex haplotype HLA-A1, -B8, -DR3, -C4AQ0B1. In the other family, two sisters with primary biliary cirrhosis shared the major histocompatibility complex haplotype HLA-A24, -B8, -DRw8, -C4A4B2. These studies contribute to the further elucidation of the immunogenetic background of primary biliary cirrhosis.
对25例连续的非亲属德国原发性胆汁性肝硬化患者以及两个家庭（每个家庭有两名原发性胆汁性肝硬化患者）进行了HLA I类、II类和III类等位基因研究。在原发性胆汁性肝硬化患者中，HLA I类抗原与健康对照相比无显著差异。对于HLA II类抗原，与对照组相比，原发性胆汁性肝硬化患者中HLA DRw8显著增加。DRw8阳性率分别为36%和3.6%[相对风险=15.28；校正后P=0.00013]。HLA III类等位基因的基因分型显示C4AQ0等位基因的发生率增加[72%对34.5%，相对风险=4.89：校正后P=0.0056]。发现携带DRw8和C4A-Q0等位基因的原发性胆汁性肝硬化患者比例非常高（相对风险=183.75；P=9.7×10⁻⁷）。在一个家庭中，一位母亲和她的女儿患有原发性胆汁性肝硬化，两人共享主要组织相容性复合体单倍型HLA-A1、-B8、-DR3、-C4AQ0B1。在另一个家庭中，两名患有原发性胆汁性肝硬化的姐妹共享主要组织相容性复合体单倍型HLA-A24、-B8、-DRw8、-C4A4B2。这些研究有助于进一步阐明原发性胆汁性肝硬化的免疫遗传背景。
