HLA DRw8 and complement C4 deficiency as risk factors in primary biliary cirrhosis

Gastroenterology. 1991 Nov;101(5):1367-73. doi: 10.1016/0016-5085(91)90090-8.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Complement C4 / deficiency*
  • Female
  • HLA Antigens / analysis*
  • HLA-DR Antigens / analysis*
  • HLA-DR Serological Subtypes
  • Humans
  • Liver Cirrhosis, Biliary / genetics*
  • Liver Cirrhosis, Biliary / immunology
  • Major Histocompatibility Complex / genetics
  • Pedigree
  • Risk Factors

Substances

  • Complement C4
  • HLA Antigens
  • HLA-DR Antigens
  • HLA-DR Serological Subtypes
  • HLA-DR8 antigen