Human leukocyte antigens class I and class II in patients with pemphigus in southern Turkey

Koc, Cilem Kaya; Sallakçı, Nilgün; Akman-Karakaş, Ayşe; Alpsoy, Erkan; Yegin, Olcay

doi:10.1111/j.1365-4632.2012.05541.x

Cited by 17 publications

(25 citation statements)

References 24 publications

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“…Interestingly, the DPB1*04:01 allele has been associated with other autoimmune diseases showing both a protective effect for type 1 diabetes (21) and for multiple sclerosis ( 22 ), as well as an increased risk for rheumatoid arthritis (23), pemphigus (24), and vasculitis (25). To our knowledge, the association between DPB1*04:01 and CDA or CD has not been described before.…”

Section: Discussionmentioning

confidence: 99%

HLA-DPB1*04:01 Protects Genetically Susceptible Children from Celiac Disease Autoimmunity in the TEDDY Study

Hadley

Hagopian

Liu

et al. 2015

American Journal of Gastroenterology

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OBJECTIVES Tissue transglutaminase autoantibodies (tTGAs) represent the first evidence of celiac disease (CD) development. Associations of HLA-DR3-DQA1*05:01-DQB1*02:01 (i.e., DR3-DQ2) and, to a lesser extent, DR4-DQA1*03:01-DQB1*03:02 (i.e., DR4-DQ8) with the risk of CD differ by country, consistent with additional genetic heterogeneity that further refines risk. Therefore, we examined human leukocyte antigen (HLA) factors other than DR3-DQ2 for their contribution to developing tTGAs. METHODS The Environmental Determinants of Diabetes in the Young (TEDDY) study enrolled 8,676 infants at an increased HLA-DR-DQ risk for type 1 diabetes and CD into a 15-year prospective surveillance follow-up. Of those followed up, 21% ( n =1,813) carried DR3-DQ2/DR3-DQ2, 39% ( n =3,359) carried DR3-DQ2/DR4-DQ8, 20% ( n =1701) carried DR4-DQ8/DR4-DQ8, and 17% ( n =1,493) carried DR4-DQ8/DQ4. Within TEDDY, a nested case–control design of 248 children with CD autoimmunity (CDA) and 248 matched control children were genotyped for HLA-B, -DRB3, -DRB4, -DPA1, and -DPB1 genes, and the entire cohort was genotyped for single-nucleotide polymorphisms (SNPs) using the Illumina ImmunoChip. CDA was defined as a positive tTGA test at two consecutive clinic visits, whereas matching in those with no evidence of tTGAs was based on the presence of HLA-DQ2, country, and sex. RESULTS After adjustment for DR3-DQ2 and restriction to allele frequency (AF) ≥5%, HLA-DPB1*04:01 was inversely associated with CDA by conditional logistic regression (AF=44%, odds ratio=0.71, 95% confidence interval (CI)=0.53–0.96, P =0.025). This association of time to CDA and HLA-DPB1* 04:01 was replicated with statistical significance in the remainder of the cohort using imputation for specific HLA alleles based on SNP genotyping (hazard ratio=0.84, 95% CI= 0.73–0.96, P =0.013). CONCLUSIONS HLA-DPB1*04:01 may reduce the risk of tTGAs, an early marker of CD, among DR3-DQ2 children, confirming that additional variants in the HLA region influence the risk for CDA.

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Section: Discussionmentioning

confidence: 99%

HLA-DPB1*04:01 Protects Genetically Susceptible Children from Celiac Disease Autoimmunity in the TEDDY Study

Hadley

Hagopian

Liu

et al. 2015

American Journal of Gastroenterology

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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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“…1,2 Pemphigus vulgaris (PV) mainly produces autoantibodies against desmoglein 3, while pemphigus foliaceus (PF) mainly produces autoantibodies against desmoglein 1. [6][7][8][9] The disease usually manifests between the fourth and sixth decade. If untreated, widespread erosion and blisters may occur with major consequences, even death.…”

Section: Introductionmentioning

confidence: 99%

Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients

et al. 2017

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Human leukocyte antigens class I and class II in patients with pemphigus in southern Turkey

Cited by 17 publications

References 24 publications

HLA-DPB1*04:01 Protects Genetically Susceptible Children from Celiac Disease Autoimmunity in the TEDDY Study

HLA-DPB1*04:01 Protects Genetically Susceptible Children from Celiac Disease Autoimmunity in the TEDDY Study

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

Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients

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