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.

[1]  A Ando,et al.  HLA class II antigens are associated with Japanese pemphigus patients. , 1991, Human immunology.

[2]  B. Haldane.  THE ESTIMATION AND SIGNIFICANCE OF THE LOGARITHM OF A RATIO OF FREQUENCIES , 1956, Annals of human genetics.

[3]  C. Alper,et al.  GENETIC POLYMORPHISM IN HUMAN GLYCINE-RICH BETA-GLYCOPROTEIN , 1972, The Journal of experimental medicine.

[4]  H. Erlich,et al.  Specific HLA-DQB and HLA-DRB1 alleles confer susceptibility to pemphigus vulgaris. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[5]  E. Beutner,et al.  Linkage of pemphigus vulgaris antibody to the major histocompatibility complex in healthy relatives of patients , 1993, The Journal of experimental medicine.

[6]  J. Strominger,et al.  Selective binding of self peptides to disease-associated major histocompatibility complex (MHC) molecules: a mechanism for MHC-linked susceptibility to human autoimmune diseases , 1995, The Journal of experimental medicine.

[7]  U Gyllensten,et al.  HLA class II allelic variation and susceptibility to pemphigus vulgaris. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[8]  J. Todd,et al.  A newly characterized HLA DQ beta allele associated with pemphigus vulgaris. , 1988, Science.

[9]  E. Beutner,et al.  Demonstration of Skin Antibodies in Sera of Pemphigus Vulgaris Patients by Indirect Immunofluorescent Staining.∗ , 1964, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[10]  N. Nagarwalla,et al.  Correlation of peptide specificity and IgG subclass with pathogenic and nonpathogenic autoantibodies in pemphigus vulgaris: a model for autoimmunity. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[11]  G. Thomson,et al.  Measuring the strength of associations between HLA antigens and diseases. , 1981, Tissue antigens.

[12]  A. Ahmed,et al.  Major histocompatibility complex haplotypes and class II genes in non-Jewish patients with pemphigus vulgaris. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[13]  C. Alper,et al.  Inherited structural polymorphism of the fourth component of human complement. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[14]  A. Ahmed,et al.  Major histocompatibility complex haplotype studies in Ashkenazi Jewish patients with pemphigus vulgaris. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[15]  H. Erlich,et al.  Sequence analysis of the HLA-DRß and HLA-DQß loci from three Pemphigus vulgaris patients , 1988 .

[16]  B. Woolf.  ON ESTIMATING THE RELATION BETWEEN BLOOD GROUP AND DISEASE , 1955, Annals of human genetics.

[17]  G. Thomson.  Investigation of the mode of inheritance of the HLA associated diseases by the method of antigen genotype frequencies among diseased individuals. , 2008, Tissue antigens.

[18]  C. Carcassi,et al.  HLA structure of the Sardinian population: a haplotype study of 551 families. , 1992, Tissue antigens.

[19]  Masayuki Amagai,et al.  Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion , 1991, Cell.