title: High susceptibility to pemphigus vulgaris due to HLA-DRB1*14:54 in the Slovak population.
abstract: The current work describes an association between pemphigus vulgaris (PV) and class II HLA alleles in the Slovak population, the first such study in Slovakia on the 'high-resolution level'. This work takes into account the new HLA allele nomenclature, officially adopted in 2010. In particular, we have focused on the associations between PV and DRB1*14:54 and DRB1*14:01. This case-control study was performed in a cohort of 43 PV Caucasian patients and 113 Caucasian control subjects from Slovakia. HLA typing was performed using PCR-SSP (polymerase chain reaction with sequence-specific primers). We found significantly positive associations between PV and the HLA alleles DRB1*04:02, DRB1*04:04, DRB1*14:54, DRB1*14:04, DRB1*14:05, DQB1*03:02 and DQB1*05:03. In contrast, HLA-DQB1*06, DRB1*07 and DRB1*13 were negatively associated with PV. Importantly, 93% of PV patients possessed at least one of two HLA haplotypes, DRB1*04-DQB1*03 or HLA-DRB1*14-DQB1*05. We confirmed the previously reported associations between HLA class II alleles and PV and described a new association between PV and DRB1*14:54. This allele was first described in 2005, and there has been only one report of its association with PV to date.
authors.affiliation: Department of Immunology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
authors.forename: Z
authors.initials: Z
authors.lastname: Párnická
authors.forename: D
authors.initials: D
authors.lastname: Švecová
authors.forename: J
authors.initials: J
authors.lastname: Javor
authors.forename: I
authors.initials: I
authors.lastname: Shawkatová
authors.forename: M
authors.initials: M
authors.lastname: Buc
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006239:Haplotypes; D006650:Histocompatibility Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D010392:Pemphigus / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D018154:Slovakia; D044465:White People / Q000235:genetics
chemical_list: D059811:HLA-DRB1 Chains; C541272:HLA-DRB1*14:54 antigen