HLA haplotypes and class II molecular alleles in Sardinian and Italian patients with pemphigus vulgaris.
HLA class II antigens and DRB1, DQA1, DQB1 alleles were studied in 16 Italian and in 16 Sardinian patients with pemphigus vulgaris (PV). In the last group the complete HLA A-DQ haplotypes, including the complotypes, were defined by family studies. As in other populations, two PV susceptibility haplotypes were found: HLA-DRB1*0402, DQA1*0301, DQB1*0302 and HLA-DRB1*1401, DQA1*0104, DQB1*0503. The first haplotype was largely prevalent in the Sardinian patients and was a part of the extended haplotype HLA-A2, Cw4, B35, S31, DR4, DQ8. The strength of the allele associations to PV is in agreement with the view that the main PV susceptibility genes are the DRB1*0402 and DQB1*0503 alleles. A genetic resistance to PV seems to be conferred by the HLA-DR3, DQ2 haplotype in the Sardinian population.
Carcassi
C
C
Cattedra di Genetica Medica, Università di Cagliari, Italy.
Cottoni
F
F
Floris
L
L
Vacca
A
A
Mulargia
M
M
Arras
M
M
Boero
R
R
La Nasa
G
G
Ledda
A
A
Pizzati
A
A
Cerimele
D
D
Contu
L
L
D000483:Alleles; D004198:Disease Susceptibility / Q000276:immunology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015234:HLA-A Antigens / Q000097:blood / Q000145:classification; D015235:HLA-B Antigens / Q000097:blood / Q000145:classification; D015236:HLA-C Antigens / Q000097:blood / Q000145:classification; D006683:HLA-DQ Antigens / Q000097:blood / Q000145:classification / Q000235:genetics*; D006684:HLA-DR Antigens / Q000097:blood / Q000145:classification / Q000235:genetics*; D006239:Haplotypes; D000949:Histocompatibility Antigens Class II / Q000097:blood / Q000145:classification / Q000235:genetics; D006801:Humans; D007558:Italy; D010392:Pemphigus / Q000097:blood / Q000276:immunology*
D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II