Pemphigus foliaceus and desmoglein 1 gene polymorphism: Is there any relationship?

Petzl-Erler, María Luiza; Malheiros, Danielle

doi:10.1016/j.jaut.2005.08.001

Cited by 14 publications

(16 citation statements)

References 17 publications

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“…14 Pemphigus is estimated to have a global incidence of between 1 and 5 per million per year. 18 Despite knowing of these genetic risk factors, little is known about the actual causes or triggers of pemphigus, since relatives with the same genes do not always develop the disease. 14 Apart from being more common among women, PV and PF have been found to be associated with various genetic factors.…”

Section: Introductionmentioning

confidence: 99%

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A review of case–control studies on the risk factors for the development of autoimmune blistering diseases

Zhao

Murrell

2015

Acad Dermatol Venereol

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Autoimmune blistering diseases (AIBD) are a group of rare but potentially fatal diseases characterized by the production of autoantibodies directed against the structural proteins of the skin. Much has been published on the clinical manifestation and interventional options for AIBD, especially on the more common subtypes such as bullous pemphigoid, pemphigus vulgaris (PV) and pemphigus foliaceus (PF). However, the aetiology of AIBD remains unknown. We aim to provide an overview of published case-control studies focussing on the non-genetic aetiological factors of bullous pemphigoid, PV and/or PF. The relevant studies were appraised for their validity and results. Our results showed that a large proportion of the studies had inconclusive results due to compromised study methodologies. Moreover, there were no identified case-control studies that investigated the possible associations between bullous pemphigoid and patient environment, or the potential links between pemphigus and drugs. Hence, a case-control study with a higher quality design addressing these shortcomings would contribute greatly to our knowledge of AIBD.

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Section: Introductionmentioning

confidence: 99%

“…15 The age of onset of pemphigus is variable, but peaks between 60 and 70 years. 18 Therefore, the aetiology of BP and pemphigus remains largely unknown. PV, for example, is more common in people of Middle Eastern descent with similar human leucocyte antigen predilections.…”

Section: Introductionmentioning

confidence: 99%

A review of case–control studies on the risk factors for the development of autoimmune blistering diseases

Zhao

Murrell

2015

Acad Dermatol Venereol

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“…The first genetic association with PF was reported in 1989 by our group [6] and was corroborated by further studies [7] that showed the importance of the HLA-DR and HLA-DQ genes in the susceptibility to PF. The polymorphism of other genes, as those coding for cytokines [8], desmoglein 1 [9], CTLA4 [10], [11] CD40L , CD40 , BLYS and CD19 [12] has also been analyzed.…”

Section: Introductionmentioning

confidence: 99%

Activating KIR and HLA Bw4 Ligands Are Associated to Decreased Susceptibility to Pemphigus Foliaceus, an Autoimmune Blistering Skin Disease

et al. 2012

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The KIR genes and their HLA class I ligands have thus far not been investigated in pemphigus foliaceus (PF) and related autoimmune diseases, such as pemphigus vulgaris. We genotyped 233 patients and 204 controls for KIR by PCR-SSP. HLA typing was performed by LABType SSO reagent kits. We estimated the odds ratio, 95% confidence interval and performed logistic regression analyses to test the hypothesis that KIR genes and their known ligands influence susceptibility to PF. We found significant negative association between activating genes and PF. The activating KIR genes may have an overlapping effect in the PF susceptibility and the presence of more than three activating genes was protective (OR = 0.49, p = 0.003). A strong protective association was found for higher ratios activating/inhibitory KIR (OR = 0.44, p = 0.001). KIR3DS1 and HLA-Bw4 were negatively associated to PF either isolated or combined, but higher significance was found for the presence of both together (OR = 0.34, p<10−3) suggesting that the activating function is the major factor to interfere in the PF pathogenesis. HLA-Bw4 (80I and 80T) was decreased in patients. There is evidence that HLA-Bw4(80T) may also be important as KIR3DS1 ligand, being the association of this pair (OR = 0.07, p = 0.001) stronger than KIR3DS1-Bw4(80I) (OR = 0.31, p = 0.002). Higher levels of activating KIR signals appeared protective to PF. The activating KIR genes have been commonly reported to increase the risk for autoimmunity, but particularities of endemic PF, like the well documented influence the environmental exposure in the pathogenesis of this disease, may be the reason why activated NK cells probably protect against pemphigus foliaceus.

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“…[22][23][24] Associations were found also with interleukin 6, interleukin 4 25 and programmed cell death 1 genotypes 26 but not with the TNF, lymphotoxin-a, DSG1 polymorphisms, cytotoxic T-lymphocyte antigen-4 gene, BAX and TP53 polymorphisms. [27][28][29][30] This is typical for multifactorial (complex) diseases, with several genetic and environmental factors involved in etiology and pathogenesis, and justifies the search for other genes modulating the susceptibility to PF.…”

Section: Introductionmentioning

confidence: 99%

Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus

Malheiros

Petzl-Erler

2009

Genes Immun

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Following the candidate gene approach we analyzed the CD40L, CD40, BLYS and CD19 genes that participate of B-cell co-stimulation, for association with pemphigus foliaceus (PF), an organ-specific autoimmune disease, characterized by the detachment of epidermal cells from each other (acantholysis) and presence of autoantibodies specific for desmoglein 1 (dsg1), an epidermal cell-adhesion molecule. The disease is endemic in certain regions of Brazil and also is known as fogo selvagem. Complex interactions among environmental and genetic susceptibility factors contribute to the manifestation of this multifactorial disease. The sample included 179 patients and 317 controls. Strong significant association was found with CD40LÀ726T4C (odds ratio, OR ¼ 5.54 and 0.30 for T þ and C þ genotypes, respectively). In addition, there were significant negative associations with CD40 À1T (OR ¼ 0.61) and BLYSÀ871T (OR ¼ 0.62) due to the decrease of the frequency of both homo-and heterozygotes in the patient group. No associations were found with variants of CD19 gene. Gene-gene interactions were observed between CD40 and BLYS, and between CD40L and BLYS. So, the dominant protective effects of CD40LÀ726C and of CD40 À1T only manifest in BLYSÀ871T þ individuals, and vice versa. We conclude that genetic variability of CD40L, CD40 and BLYS is an important factor for PF pathogenesis.

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Pemphigus foliaceus and desmoglein 1 gene polymorphism: Is there any relationship?

Cited by 14 publications

References 17 publications

A review of case–control studies on the risk factors for the development of autoimmune blistering diseases

A review of case–control studies on the risk factors for the development of autoimmune blistering diseases

Activating KIR and HLA Bw4 Ligands Are Associated to Decreased Susceptibility to Pemphigus Foliaceus, an Autoimmune Blistering Skin Disease

Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus

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