title: HLA haplotypes and class II molecular alleles in Sardinian and Italian patients with pemphigus vulgaris.
abstract: 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.
authors.affiliation: Cattedra di Genetica Medica, Università di Cagliari, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Carcassi
authors.forename: F
authors.initials: F
authors.lastname: Cottoni
authors.forename: L
authors.initials: L
authors.lastname: Floris
authors.forename: A
authors.initials: A
authors.lastname: Vacca
authors.forename: M
authors.initials: M
authors.lastname: Mulargia
authors.forename: M
authors.initials: M
authors.lastname: Arras
authors.forename: R
authors.initials: R
authors.lastname: Boero
authors.forename: G
authors.initials: G
authors.lastname: La Nasa
authors.forename: A
authors.initials: A
authors.lastname: Ledda
authors.forename: A
authors.initials: A
authors.lastname: Pizzati
authors.forename: D
authors.initials: D
authors.lastname: Cerimele
authors.forename: L
authors.initials: L
authors.lastname: Contu
mesh_terms: 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*
chemical_list: 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