Mackay I R, Tait B D
Gastroenterology. 1980 Jul;79(1):95-8.
In 43 cases of chronic active hepatitis of autoimmune-type, HLA-D locus-related antigens (HLA-DR) as well as A and B locus antigens were typed serologically. For 14 patients carrying HLA-B8 and DRw3 family members were typed to establish haplotypes. Control groups consisted of healthy persons and patients with chronic liver disease unrelated to autoimmune CAH (alcoholic cirrhosis and cryptogenic cirrhosis). In autoimmune CAH, DRw3 was significantly increased, 74%, compared with healthy controls, 32%, and liver controls, 31%, this increase being similar to the increase of HLA-B8. There was marked co-occurrence of HLA-B8 and DRw3 in 31 of 33 individuals positive for either antigen. DRw3 was present in 23 of the 24 cases with disease-onset before age 30 hr. HLA typing on the 14 families showed that a haplotype including B8 and DRw3 was present in all index patients; this haplotype also included A1 in 10 cases, A9 in 2 cases, and A2 and A28 in 1 case. The results indicate that in the autoimmune type of chronic active hepatitis occurring characteristically in young females, there exists a disease susceptibility gene strongly associated with the B and D locus of the major histocompatibility complex (MHC), and acting in concert with other non-MHC gene loci and/or environmental factors.
在43例自身免疫型慢性活动性肝炎患者中，对HLA - D位点相关抗原（HLA - DR）以及A和B位点抗原进行了血清学分型。对14例携带HLA - B8的患者，对其家庭成员进行分型以确定单倍型。对照组由健康人和与自身免疫性慢性活动性肝炎（CAH）无关的慢性肝病患者（酒精性肝硬化和隐源性肝硬化）组成。在自身免疫性CAH中，DRw3显著增加，为74%，而健康对照组为32%，肝病对照组为31%，这种增加与HLA - B8的增加相似。在33例任一抗原阳性的个体中，有31例HLA - B8和DRw3明显共现。在发病年龄小于30岁的24例患者中，有23例存在DRw3。对14个家庭进行的HLA分型显示，所有索引患者中均存在包含B8和DRw3的单倍型；该单倍型在10例中还包含A1，2例中包含A9，1例中包含A2和A28。结果表明，在以年轻女性为特征的自身免疫型慢性活动性肝炎中，存在一种与主要组织相容性复合体（MHC）的B和D位点强烈相关的疾病易感基因，并且与其他非MHC基因位点和/或环境因素共同起作用。
