Carcassi C, Cottoni F, Floris L, Vacca A, Mulargia M, Arras M, Boero R, La Nasa G, Ledda A, Pizzati A, Cerimele D, Contu L
Cattedra di Genetica Medica, Università di Cagliari, Italy.
Tissue Antigens. 1996 Dec;48(6):662-7. doi: 10.1111/j.1399-0039.1996.tb02689.x.
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-DRB10402, DQA10301, DQB10302 and HLA-DRB11401, DQA10104, DQB10503. 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 DRB10402 and DQB10503 alleles. A genetic resistance to PV seems to be conferred by the HLA-DR3, DQ2 haplotype in the Sardinian population.
对16名意大利寻常型天疱疮（PV）患者和16名撒丁岛寻常型天疱疮患者的HLA II类抗原以及DRB1、DQA1、DQB1等位基因进行了研究。在最后一组中，通过家系研究确定了完整的HLA A-DQ单倍型，包括整合型。与其他人群一样，发现了两种PV易感单倍型：HLA-DRB10402、DQA10301、DQB10302和HLA-DRB11401、DQA10104、DQB10503。第一种单倍型在撒丁岛患者中占主导地位，是扩展单倍型HLA-A2、Cw4、B35、S31、DR4、DQ8的一部分。等位基因与PV关联的强度与主要的PV易感基因是DRB10402和DQB10503等位基因这一观点一致。在撒丁岛人群中，HLA-DR3、DQ2单倍型似乎赋予了对PV的遗传抗性。
