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.

HLA Class II Polymorphism Contributes to Specify Desmoglein Derived Peptides in Pemphigus Vulgaris and Pemphigus Foliaceus

“…An important and significant decrease (P=0.0007) in DQB1*02 frequency was observed in French PV patients, confirming previous studies from India and Italy [6,10,13]. The DQB1*02 decrease was associated Table 1).…”

“…The increased frequency of DRB1*0402 corroborates previous studies in Ashkenazi Jewish patients [2] and in non-Jewish Caucasians [3,4,5,6,10]. The DRB1*1401 or 1404 alleles were found associated with PV in non-Jewish patients of European ancestry (Italy, Sardinia, Spain, Boston area) [3,4,5,6] and in Asian populations (India, Pakistan, Japan) [12,13,14,15,16,17].…”

“…Endemic and non-endemic PF have been described with a predominance of endemic PF in Brazil and in NorthAfrica (Tunisia). A strong association with MHC molecules has already been shown in PV (DRB1*0402 and DQB1*0503) [2,3,4,5,6] and in endemic PF (DRB1*0102, 04040, 1402 or 1406) [7,8,9]. The HLA susceptibility to PV has not been determined in France, and previous studies (with the exception of a recent study of Italian patients) [10] concerning nonendemic PF were carried out on small patient groups and were therefore inconclusive.…”

“…The DRB1*1401 or 1404 alleles were found associated with PV in non-Jewish patients of European ancestry (Italy, Sardinia, Spain, Boston area) [3,4,5,6] and in Asian populations (India, Pakistan, Japan) [12,13,14,15,16,17].…”

Pemphigus Vulgaris: Update on Etiopathogenesis, Oral Manifestations, and Management

“…Rare familial cases of PV have been reported (Starzycki et al, 1998). HLA class II allele associations in PV are found with HLA-DR4 (DRB1*0402), DRw14 (DRB1*1041), and DQB1*0503 (Sinha et al, 1988;Ahmed et al, 1990Ahmed et al, , 1991Ahmed et al, , 1993Matzner et al, 1995;Carcassi et al, 1996;Delgado et al, 1996Delgado et al, , 1997Lombardi et al, 1996;Nishikawa et al, 1996;Miyagawa et al, 1997;Mobini et al, 1997a;Loiseau et al, 2000). Asian alleles of the HLA-B15 family, including the allele B*1507, are significantly increased in comparison with normal controls, in Japanese patients with PV-but HLA class l alleles are not changed (Miyagawa et al, 2002).…”