Peculiar HLA polymorphisms in Italian patients with primary biliary cirrhosis

Pietro Invernizzi, Pier Maria Battezzati, Andrea Crosignani, Francesca Perego, Francesca Poli, Alberto Morabito, Alejandro Espadas De Arias, Mario Scalamogna, Massimo Zuin, Mauro Podda

Research output: Contribution to journalArticlepeer-review

72 Scopus citations


Background/Aims: Primary biliary cirrhosis (PBC) is an autoimmune cholestatic liver disease of unknown etiology with a highly variable progression rate and prevalence among different geographical areas. Data concerning human leukocyte antigen (HLA) polymorphisms in PBC come from a limited number of geographical areas, from which the association with the HLA-DRB1*08 allele has been consistently reported. Methods: To investigate whether HLA polymorphisms contribute toward disease susceptibility, we compared 186 well-defined Italian PBC patients with 558 healthy subjects matched by age, gender and geographical area (Northern, Central and Southern Italy). Patients and controls were HLA typed at low resolution by PCR-sequence specific oligonucleotides for the loci A and B; HLA-DRB1 alleles were typed by reverse line blot assay of PCR-amplified DNA. Results: HLA-DRB1*11 was associated with a markedly reduced risk of developing PBC (OR: 0.3; 95% CI: 0.2-0.5). No association was found with HLA-DRB1*08. The B*15 (2.5; 1.3-4.6), B*41 (12.0; 2.7-72.1), B*55 (2.9; 1.1-7.5) and B*58 alleles (6.8; 1.1-46.3) were more frequent in PBC. The frequency of HLA polymorphisms was similar in PBC patients with progressive or non-progressive disease, and in those with or without anti-mitochondriai antibodies. Conclusions: Our data on a large series of Italian patients suggest that PBC may have a peculiar genetic background in the Mediterranean area.

Original languageEnglish (US)
Pages (from-to)401-406
Number of pages6
JournalJournal of Hepatology
Issue number4
StatePublished - Apr 1 2003
Externally publishedYes


  • Genetic liver diseases
  • Human leukocyte antigens
  • Primary biliary cirrhosis

ASJC Scopus subject areas

  • Gastroenterology


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