High susceptibility to pemphigus vulgaris due to HLA‐DRB1*14:54 in the Slovak population

Párnická, Zuzana; Svecova, D; Javor, Juraj; Shawkatová, Ivana; Buc, Milan

doi:10.1111/iji.12052

Cited by 26 publications

(35 citation statements)

References 20 publications

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“…No association of DRB1*14:01 with PV was found. Similar findings (association of PV with DRB1*14:04 and not *14:01 ) are recorded in Slovakian, Pakistani, Indians, white European and Indo Asian patients in Great Britain .…”

Section: Discussionsupporting

confidence: 82%

“…However, inheritance of certain human leukocyte antigen (HLA) alleles is believed to be the most probable predisposing factor . Most literature on the genetic susceptibility to PV is focused on the investigation of major HLA genes . Due to the linkage disequilibrium (LD) – the non‐random association of alleles at different loci, the occurrence of disease‐associated alleles in haplotypes in various autoimmune diseases including PV, is obvious .…”

Section: Introductionmentioning

confidence: 99%

“…Analysis of haplotypes has been carried out between patients and control population in order to assess whether susceptibility alleles truly confer a risk for the development of PV and whether carrying a negatively associated allele is of preventative benefit. In many populations, HLA‐DRB1*04:02‐DQB1*03:02 haplotype is the most common in PV patients .…”

Section: Introductionmentioning

confidence: 99%

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Human leukocyte antigen class II (DRB1 and DQB1) alleles and haplotypes frequencies in patients with pemphigus vulgaris among the Serbian population

Živanović

Bojic

Medenica

et al. 2016

HLA

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The etiology of pemphigus vulgaris (PV) is multifactorial and includes genetic, environmental, hormonal, and immunological factors. Inheritance of certain Human class II leukocyte antigen (HLA) alleles is by far the best-established predisposing factor for the development of PV. Class II HLA alleles vary among racial/ethnic backgrounds. We have determined an association between HLA class II alleles and PV among the Serbian population. A total of 72 patients with confirmed diagnosis of PV were genotyped for HLA class II alleles. HLA frequencies were compared with unrelated healthy bone marrow donors. The statistical significance of differences between patients and controls was evaluated using Fisher's exact test. The DRB1*04 and DRB1*14 allelic groups were associated with PV (P adj = 4.45 × 10(-13) and 4.06 × 10(-19) respectively), while HLA-DRB1*11 was negatively associated with PV (P adj = 0.0067) suggesting a protective role. DRB1*04:02, DRB1*14:04, DQB1*03:02 and DQB1*05:03 alleles were shown to be strongly associated with PV (P adj = 1.63 × 10(-12), 5.20 × 10(-7), 1.28 × 10(-6), and 4.44 × 10(-5), respectively). The frequency of HLA DRB1*04-DQB1*03 and HLA DRB1*14-DQB1*05 haplotypes in PV patients was significantly higher than in controls (31.3% vs 8.8%, P adj =7.66 × 10(-8) and 30.6% vs 6.3%, P adj = 3.22 × 10(-10), respectively). At high-resolution level, statistical significance was observed in HLA-DRB1*04:02-DQB1*03:02 and HLA-DRB1*14:04-DQB1*05:03 haplotypes (P adj = 5.55 × 10(-12), and P adj = 3.91 × 10(-6), respectively). Our findings suggest that HLA-DRB1*04:02, DRB1*14:04, HLA-DQB1* 03:02 and DQB1*05:03 alleles and HLA-DRB1*04:02-DQB1*03:02 and HLA-DRB1*14:04-DQB1*05:03 haplotypes are genetic markers for susceptibility for PV, while DRB1*11 allelic group appears protective in Serbian population.

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Section: Discussionsupporting

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Human leukocyte antigen class II (DRB1 and DQB1) alleles and haplotypes frequencies in patients with pemphigus vulgaris among the Serbian population

Živanović

Bojic

Medenica

et al. 2016

HLA

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“…Several previous studies, often utilizing serum, have addressed the HLA haplotype distribution utilizing ABD cases and controls [5,6,[12][13][14][15]. These studies concluded that some HLA alleles strongly predispose toward and/or protect against ABDs.…”

Section: Discussionmentioning

confidence: 99%

HLA-DPDQDR is expressed in all lesional skin from patients with autoimmune skin diseases

Velez¹,

Calle-Isaza²,

Howard³

2014

Our Dermatol Online

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Introduction: Human genes responsible for human antigen presentation and transplant rejection functions are located on the short arm of Chromosome 6, and are called the Major Histocompatibility Complex (MHC). Moreover, the primary physiologic function of MHC molecules is to present peptides to T lymphocytes. MHC molecules are integral components of the ligands that most T cells recognize, since the T cell receptor (TCR) has specificity for complexes of foreign antigenic peptides, as well as self-MHC molecules. Aim: Our investigation attempts to investigate the presence of HLA-DPDQDR within lesional skin biopsies from patients affected by autoimmune skin blistering diseases (ABDs). Materials and Methods:We utilized immunohistochemistry (IHC) to evaluate the presence of HLA-DPDQDR in lesional skin biopsies of patients affected by ABDs. We tested 30 patients with endemic pemphigus foliaceus (EPF), 15 controls from the EPF endemic area, and 15 biopsies from healthy controls from the USA. We also tested archival biopsies from patients with selected ABDs, including 30 patients with bullous pemphigoid (BP), 20 with pemphigus vulgaris (PV), 8 with pemphigus foliaceus (PF), 14 with dermatitis herpetiformis (DH) and 2 with epidermolysis bullosa acquisita (EBA). Results: Most ABD biopsies stained positive for HLA-DPDQDR in the lesional blisters and/or inflamed neurovascular neuroplexus areas in the superficial dermis, and also at mesenchymal-endothelial like-cell junctions in the dermis. In BP, EBA and EPF, the HLA-DPDQDR staining was also seen in dermal eccrine sweat gland coils and ducts. Conclusion: We document that HLA-DPDQDR is expressed in several anatomic areas of lesional skin in patients with ABDs. Notably, HLA-DPDQDR positivity was also consistently present in areas of the classic immune response, including epidermal intercellular junctions in pemphigus, and at basement membrane sites in bullous pemphigoid and other subepidermal blistering diseases.

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“…The meta‐analysis of Yan et al does not mention HLA‐DRB1*14:54 , but describes a strong association to HLA‐DRB1*14:01 , whereas Saha et al reported that HLA‐DRB1*14:54 , but not HLA‐DRB1*14:01:01 , is associated with PV in a British cohort . Similarly Parnicka et al reported an association to HLA‐DRB1*14:54 and PV in Slovakians .…”

Section: Low Resolution Genotyping Of Hla‐drb1 In German Pemphigus Vumentioning

confidence: 99%

Association with HLA‐DRB1 in Egyptian and German pemphigus vulgaris patients

et al. 2015

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High susceptibility to pemphigus vulgaris due to HLA‐DRB1*14:54 in the Slovak population

Cited by 26 publications

References 20 publications

Human leukocyte antigen class II (DRB1 and DQB1) alleles and haplotypes frequencies in patients with pemphigus vulgaris among the Serbian population

Human leukocyte antigen class II (DRB1 and DQB1) alleles and haplotypes frequencies in patients with pemphigus vulgaris among the Serbian population

HLA-DPDQDR is expressed in all lesional skin from patients with autoimmune skin diseases

Association with HLA‐DRB1 in Egyptian and German pemphigus vulgaris patients

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