HLA-DRB1 and DQB1 genetic susceptibility to pemphigus vulgaris and pemphigus foliaceus in Vietnamese patients

Vuong, Thanh The Bich; M, Duc; Thinh, Ong Phuc; Thanh, Le Thai Van

doi:10.4081/dr.2021.9286

Cited by 3 publications

(3 citation statements)

References 31 publications

(74 reference statements)

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“…Regarding the PV analysis, two studies were found to most effect pooled OR. 26,28 Heterogeneity testing in this case showed two values to note: Párnická et al's I 2 = 50.11 and Lombardi et al's I 2 = 49.65. 27,29 Though no Q value was considered significant for these two studies, minor asymmetry found in the Doi plot was a result.…”

Section: Resultsmentioning

confidence: 71%

“…For the PV analysis, five studies conducted between 1999 and 2021 met selection criteria. [26][27][28][29][30] Despite meeting most inclusion criteria, one study was removed from the PV analysis due to its usage of animals, deceased patients, or microorganisms as a sample for comparison. 31 Due to exclusion criteria prohibiting past meta-analyses to be incorporated into this study's meta-analysis, an additional study was also removed.…”

Section: Resultsmentioning

confidence: 99%

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HLA-DQB1*0301 in Bullous Pemphigoid and Pemphigus Vulgaris: A Meta-Analysis

Thibaut,

Witcher,

Barnes

et al. 2023

Int J Med Stud

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Background: The linkage of HLA-DQB1*0301 to autoimmune disorders is becoming more common in literature. Despite bullous pemphigoid (BP) and pemphigus vulgaris (PV) both having similar symptoms, such as blistering skin conditions, research has shown different relationships with HLAs. Methods: In this systematic review, HLA-DQB1*0301 and the odds of developing BP and PV were explored. Google Scholar and Pubmed were consulted, and articles were included if living subjects were used, odds ratio was available or could be ascertained from the study, and if it was not a meta-analysis of other researcher’s works. MetaXL software was used to generate data for analysis and a forest plot was generated for each. Nine studies conducted between 1996 and 2021 met study selection criteria for the BP HLA-DQB1*0301 meta-analysis (1,340 patients and 6,673 controls) and five studies (247 patients and 2,435 controls) for PV. Results: HLA-DQB1*0301 increased the odds of developing BP (OR= 1.64, 95% CI [1.44, 1.87], I2= 0%) yet decreased odds of PV (OR= 0.60, 95% CI [0.40, 0.89], I2= 34%). Conclusion: Results suggest HLA-DQB1*0301 may serve opposite roles in BP and PV despite similarity in symptoms, finding higher odds for developing BP versus lower odds for developing PV. Understanding this HLA’s function in each requires further exploration. Limitations of the analysis included minor asymmetry in the PV Doi plot, suggesting publication bias. No funding was used; study protocol was not registered.

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Section: Resultsmentioning

confidence: 71%

Section: Resultsmentioning

confidence: 99%

HLA-DQB1*0301 in Bullous Pemphigoid and Pemphigus Vulgaris: A Meta-Analysis

Thibaut,

Witcher,

Barnes

et al. 2023

Int J Med Stud

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“…HLA traits have been known for decades to pass on a genetic propensity to develop autoimmune disorders 50 and thus, it not surprising that most studies of the genetic predisposition to PV have revealed associations to HLA genes. The strongest and most widely reported association is between PV and HLA genes belonging to the class II region 8,51–71 . While some of these HLA associations are population‐specific (Figure 1), others are linked to PV across a wide range of ethnic groups.…”

Section: Hla Genesmentioning

confidence: 99%

The genetic basis of pemphigus vulgaris

Vodo

Sprecher

2023

JEADV Clinical Practice

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The severe autoimmune blistering disease pemphigus vulgaris (PV) is most probably mainly due to autoantibodies directed against desmosomal components of the epithelium, disrupting cell‐cell adhesion. The precise mechanisms underlying the development of the disease are still unknown, and immunosuppressive medications such as corticosteroids, which are linked to potentially serious adverse effects, are still the mainstay of treatment. Ethnic susceptibility and familial incidence hint to a genetic component to the pathophysiology of PV, which, if identified, could further improve our understanding of PV pathogenesis and lead to the discovery of new therapeutic targets for this potentially fatal condition. In this article, we review the evidence supporting a genetic component in PV and discuss the clinical and therapeutic implications of these discoveries.

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Human leukocyte antigen class II (DRB1 and DQB1) alleles frequencies in patients with various forms of pemphigus among the Russian population

Olisova,

Lepekhova,

Dukhanin

et al. 2024

Russian Journal of Skin and Venereal Diseases

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BACKGROUND: Autoimmune bullous dermatoses are known to be the most severe blistering conditions of skin. HLA-DRB1 and DQB1 alleles might play a crucial role in their onset. In pemphigus HLA class II molecules stimulate the division of T helper cells, which in turn stimulate B cells to produce antibodies to epidermal keratinocytes causing acantholysis. The HLA-DRB1 and DQB1 alleles’ frequencies studied in pemphigus in a vast variety of populations worldwide. However, as of yet, this mechanism was not investigated in Russian population. AIM: To estimate the prevalence of the HLA-DRB1 and DQB1 alleles at a low- and high-resolution levels in patients with various forms of pemphigus. We observed 86 patients with pemphigus vulgaris, 13 ― with pemphigus foliaceus, 6 patients with paraneoplastic pemphigus and 92 healthy volunteers. MATERIALS AND METHODS: HLA typing for DRB1 and DQB1 was performed with 50 nanogram DNA extraction and polymerase chain reaction. RESULTS: At a low-resolution level HLA-DRB1*4 and DRB1*14 alleles were statistically significant more frequent in pemphigus vulgaris and pemphigus foliaceus patients compared to those in control subjects, whereas HLA-DRB1*11, DRB*16, and DRB1*3 alleles were more frequent in healthy volunteers. At a high-resolution level, DRB1*04:02 allele was observed to show its statistically significant higher frequency in all variants of pemphigus, including paraneoplastic pemphigus. However, DRB1*14:05 HLA allele was more frequent in pemphigus vulgaris and pemphigus foliaceus patients, whereas DRB1*11:04 one was found to be 3.7 times more frequent in healthy controls. Additionally, at a low-resolution level for HLA-DQB1 alleles no statistically significant results were observed. However, at a high-resolution level the chances for more frequent indication of DQB1*03:02 allele were 7.09 times higher in pemphigus foliaceus group and 2.49 higher in pemphigus vulgaris patients compared to healthy volunteers. Moreover, DQB1*05:03 was identified more frequently in pemphigus vulgaris and paraneoplastic pemphigus groups of patients, whereas DQB1*03:01 allele was shown to be increased in the group of healthy donors. CONCLUSION: HLA-DRB1*4, DRB1*14, DRB1*04:02, DRB1*14:05, DQB1*03:02 and DQB1*05:03 alleles might be considered as the genetic markers for pemphigus vulgaris susceptibility, while HLA-DRB1*11, DRB*16, DRB1*3, DRB1*11:04 and DQB1*03:01 allelic groups appear to be protective for Russian population.

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HLA-DRB1 and DQB1 genetic susceptibility to pemphigus vulgaris and pemphigus foliaceus in Vietnamese patients

Cited by 3 publications

References 31 publications

HLA-DQB1*0301 in Bullous Pemphigoid and Pemphigus Vulgaris: A Meta-Analysis

HLA-DQB1*0301 in Bullous Pemphigoid and Pemphigus Vulgaris: A Meta-Analysis

The genetic basis of pemphigus vulgaris

Human leukocyte antigen class II (DRB1 and DQB1) alleles frequencies in patients with various forms of pemphigus among the Russian population

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