Papp Mária, Lakatos Péter László, Palatka Károly, Földi Ildikó, Udvardy Miklós, Hársfalvi Jolán, Tornai István, Vitális Zsuzsanna, Dinya Tamás, Kovács Agota, Molnár Tamás, Demeter Pál, Papp János, Lakatos László, Altorjay István
Debreceni Egyetem, Orvos- es Egészségtudományi Centrum, Belgyógyászati Intézet, Gasztroenterológiai Tanszék, Debrecen.
Orv Hetil. 2006 Sep 10;147(36):1745-50.
Since functional differences were found among three major haptoglobin phenotypes, haptoglobin polymorphism was reported to be associated with the risk and clinical course of different inflammatory diseases. The aim of the study was to investigate the Hp polymorphism distribution in Hungarian Crohn's disease patients.
511 Hungarian IBD patients were investigated (Crohn's disease patients: 468, m/f ratio: 233/235, duration 8.2 +/- 6.7 ys, and ulcerative colitis patients: 43, m/f: 22/21, duration: 9.5 +/- 10.6 ys) and 384 healthy subjects served as controls. Hp phenotypes were determined by sodium dodecyl sulphate-polyacrylamide gel electrophoresis of sera followed by immunoblotting. Clinical data were come by the questionnaires prepared by the physicians.
The frequency of haptoglobin-1 allele was significantly higher in Crohn's disease (0.395) compared to the controls (0.345; OR: 1.24, 95%CI: 1.02-1.52, p = 0.03), but the phenotype distribution showed no such differences. Haptoglobin phenotype was associated to disease behavior in Crohn's disease (B1 and B2, in haptoglobin 1-1 and 2-2: 36.6%-34.3% and 32.4%-32.5% vs. in 2-1: 44.9% and 20.3%; ORB1Hp2-1 vs. others: 2.06, 95%CI: 1.29-3.28). Furthermore, an increased frequency of primary sclerosing cholangitis was observed in haptoglobin 2-2, compared to the 1-1 (6.5% vs. 0.0%, p = 0.039). No associations were found in ulcerative colitis.
haptoglobin-1 allele was associated with Crohn's disease, whereas the phenotypes with the disease behavior and frequency of primary sclerosing cholangitis, exhibiting a disease-modifying effect.
由于发现三种主要的触珠蛋白表型存在功能差异，据报道触珠蛋白多态性与不同炎症性疾病的风险和临床病程相关。本研究的目的是调查匈牙利克罗恩病患者中触珠蛋白（Hp）多态性的分布情况。
对511名匈牙利炎症性肠病患者进行了调查（克罗恩病患者468例，男/女比例为233/235，病程8.2±6.7年；溃疡性结肠炎患者43例，男/女比例为22/21，病程9.5±10.6年），并以384名健康受试者作为对照。通过血清十二烷基硫酸钠-聚丙烯酰胺凝胶电泳，随后进行免疫印迹法来确定Hp表型。临床数据通过医生编制的问卷获得。
与对照组（0.345）相比，克罗恩病患者中触珠蛋白-1等位基因的频率显著更高（0.395；比值比：1.24，95%置信区间：1.02 - 1.52，p = 0.03），但表型分布未显示出此类差异。触珠蛋白表型与克罗恩病的疾病行为相关（在触珠蛋白1-1和2-2中，B1和B2分别为36.6% - 34.3%和32.4% - 32.5%，而在2-1中分别为44.9%和20.3%；B1型触珠蛋白2-1相对于其他类型的比值比：2.06，95%置信区间：1.29 - 3.28）。此外，与触珠蛋白类型1-1相比，触珠蛋白2-2中原发性硬化性胆管炎的发生率有所增加（6.5%对0.0%，p = 0.039）。在溃疡性结肠炎中未发现相关性。
触珠蛋白-1等位基因与克罗恩病相关，而其表型与疾病行为以及原发性硬化性胆管炎的发生率相关，显示出疾病修饰作用。
