Objective: To determine whether, in patients with type 1 autoimmune he
patitis and human leukocyte antigen (HLA) DR3 and DR4 positivity, any
DQ antigen is disease-specific. Material and Methods: HLA class II typ
ing was performed by restriction fragment length polymorphism in 103 p
atients with type 1 autoimmune hepatitis, 104 patients with chronic vi
ral hepatitis, and 80 normal subjects, A shared association with a dis
ease-specific DQ antigen was sought in patients with HLA-DR3, DR4, aci
d DR3-DR4, Results: Patients with HLA-DR3 and DR4 shared positivity fo
r DQ2, DQ4, DQ5, DQ6, and DQ7, but the associations reflected establis
hed linkages or mere of low frequency, Patients heterozygous for DR3-D
R4 or homozygous for either DR3 or DR4 did not have a shared DQ antige
n, Only the DR3-DQ2 haplotype distinguished patients with autoimmune h
epatitis from normal subjects or those with chronic viral hepatitis, C
onclusion: The DR3 and DR4 antigens are not associated with a single d
isease-specific DQ antigen in type 1 autoimmune hepatitis, The DR3-DQ2
haplotype is the principal risk factor for the disease at our referra
l center, Analyses by restriction fragment length polymorphism do not
implicate a single susceptibility gene at the DQ locus.