title: Peculiar HLA polymorphisms in Italian patients with primary biliary cirrhosis.
abstract: OBJECTIVE
  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-mitochondrial antibodies.
  
  
  CONCLUSIONS
  Our data on a large series of Italian patients suggest that PBC may have a peculiar genetic background in the Mediterranean area.
authors.affiliation: Department of Medicine, San Paolo Hospital Medical School, University of Milan, Via di Rudini; 8, 20142 Milan, Italy. pietro.invernizzi@unimi.it
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
authors.forename: Pier Maria
authors.initials: PM
authors.lastname: Battezzati
authors.forename: Andrea
authors.initials: A
authors.lastname: Crosignani
authors.forename: Francesca
authors.initials: F
authors.lastname: Perego
authors.forename: Francesca
authors.initials: F
authors.lastname: Poli
authors.forename: Alberto
authors.initials: A
authors.lastname: Morabito
authors.forename: Alejandro Espadas
authors.initials: AE
authors.lastname: De Arias
authors.forename: Mario
authors.initials: M
authors.lastname: Scalamogna
authors.forename: Massimo
authors.initials: M
authors.lastname: Zuin
authors.forename: Mauro
authors.initials: M
authors.lastname: Podda
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains