Peculiar HLA polymorphisms in Italian patients with primary biliary cirrhosis.
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.
Invernizzi
Pietro
P
Department of Medicine, San Paolo Hospital Medical School, University of Milan, Via di Rudini; 8, 20142 Milan, Italy. pietro.invernizzi@unimi.it
Battezzati
Pier Maria
PM
Crosignani
Andrea
A
Perego
Francesca
F
Poli
Francesca
F
Morabito
Alberto
A
De Arias
Alejandro Espadas
AE
Scalamogna
Mario
M
Zuin
Massimo
M
Podda
Mauro
M
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
D015234:HLA-A Antigens; D015235:HLA-B Antigens; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains