title: Pemphigus vulgaris is associated with the transporter associated with antigen processing (TAP) system.
abstract: Pemphigus vulgaris (PV) is a human leukocute antigen (HLA) class II-associated autoimmune disease of the skin of unknown etiology. We recently described the association of pemphigus vulgaris with two clusters of microsatellite loci within the major histocompatibility complex region. One cluster includes the microsatellite marker TAP1CA, located in proximity to the transporter associated with antigen processing (TAP) genes. These genes are essential for class I antigen processing machinery and could be an additional set of genes involved in susceptibility to PV. The aim of this study was to investigate a possible association between TAP gene polymorphisms and PV. For this purpose we examined 37 unrelated Jewish Israeli patients with PV and compared them with 37 healthy Israeli Jewish HLA-matched controls. Significant differences were detected in TAP2 amino acid residues (p=0.001). Two PV TAP2 risk alleles were identified (TAP2*C and TAP2*D), the frequency of which was estimated to be 37.8% in the patients and 5.3 % in the controls. This association was found to be independent of HLA-DR. It is therefore likely that TAP2 genes are involved in susceptibility to development of PV.
authors.affiliation: Tissue Typing Laboratory, Sheba Medical Center, Ramat-Gan, and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Elena
authors.initials: E
authors.lastname: Slomov
authors.forename: Ron
authors.initials: R
authors.lastname: Loewenthal
authors.forename: Michael
authors.initials: M
authors.lastname: Korostishevsky
authors.forename: Ilan
authors.initials: I
authors.lastname: Goldberg
authors.forename: Sarah
authors.initials: S
authors.lastname: Brenner
authors.forename: Ephraim
authors.initials: E
authors.lastname: Gazit
mesh_terms: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D015810:Linkage Disequilibrium; D010392:Pemphigus / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide
chemical_list: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D006680:HLA Antigens; D015395:Histocompatibility Antigens Class I; C477327:transporter associated with antigen processing (TAP); C071692:TAP2 protein, human