Czaja A J, Santrach P J, Breanndan Moore S
Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
Dig Dis Sci. 2001 Jan;46(1):140-7. doi: 10.1023/a:1005670111068.
To determine if shared genetic risk factors for autoimmune liver disease affect clinical manifestations, we evaluated 271 patients and 92 normal subjects by DNA-based techniques. Genetic risk factors were intermixed in all conditions, and frequency varied according to disease type. DR4 distinguished autoimmune hepatitis (P = 0.0002) and primary biliary cirrhosis (P = 0.004) from primary sclerosing cholangitis. DR52 distinguished primary sclerosing cholangitis from autoimmune hepatitis (P = 0.0007) and primary biliary cirrhosis (P = 0.00007) and DR3 distinguished autoimmune hepatitis (P = 0.002) and primary sclerosing cholangitis (P = 0.0005) from primary biliary cirrhosis. Only the occurrence of DR4 in primary sclerosing cholangitis was lower than in normal subjects (P = 0.02). Patients with mixed genetic risk factors did not have distinctive features or manifestations of hybrid conditions. We conclude that patients with shared genetic risk factors do not have characteristic features nor do they have overlap syndromes. DR4 may be protective against primary sclerosing cholangitis.
为确定自身免疫性肝病的共同遗传风险因素是否影响临床表现，我们采用基于DNA的技术评估了271例患者和92名正常受试者。遗传风险因素在所有疾病状态中相互交织，且频率因疾病类型而异。DR4可将自身免疫性肝炎（P = 0.0002）和原发性胆汁性肝硬化（P = 0.004）与原发性硬化性胆管炎区分开来。DR52可将原发性硬化性胆管炎与自身免疫性肝炎（P = 0.0007）和原发性胆汁性肝硬化（P = 0.00007）区分开来，DR3可将自身免疫性肝炎（P = 0.002）和原发性硬化性胆管炎（P = 0.0005）与原发性胆汁性肝硬化区分开来。仅原发性硬化性胆管炎中DR4的发生率低于正常受试者（P = 0.02）。具有混合遗传风险因素的患者没有混合病症的独特特征或表现。我们得出结论，具有共同遗传风险因素的患者没有特征性表现，也没有重叠综合征。DR4可能对原发性硬化性胆管炎具有保护作用。
