Role of FOXP3 gene polymorphism in the susceptibility to Tunisian endemic Pemphigus Foliaceus

Jmaa, Mariem Ben; Abida, Olfa; Bahloul, E.; Toumi, Ahmed; Khlif, Sana; Fakhfakh, R.; Elloumi, Nada; Sellami, Khadija; Masmoudi, Abderrahmen; Turki, H.; Masmoudi, Hatem

doi:10.1016/j.imlet.2017.02.005

Cited by 16 publications

(16 citation statements)

References 33 publications

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“…In this context, we suggest that CD4 + Foxp3+ regulatory T cells (Treg) could modulate the function of effector T cells during tendon repair by regulating the expression of target genes in the inflammatory response. As already described in other pathological conditions, polymorphisms can modulate the function of Tregs, harming the immune response [ 24 , 52 ]. In present study, we found that FCRL3 -169C allele was associated with increased tendinopathy risk.…”

Section: Discussionmentioning

confidence: 99%

Fc receptor-like 3 (−169T>C) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study

et al. 2018

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BackgroundTendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor being essential for Treg function, and the FC-receptor-like 3 (FCRL3) possibly negatively regulating Treg function. FCRL3 –169T>C and FOXP3 –2383C>T polymorphisms are located near elements that regulate respective genes expression, thus it was deemed relevant to evaluate these polymorphisms as risk factors for tendinopathy development in athletes.MethodsThis case-control study included 271 volleyball athletes (146 tendinopathy cases and 125 controls) recruited from the Brazilian Volleyball Federation. Genotyping analyses were performed using TaqMan assays, and the association of the polymorphisms with tendinopathy evaluated by multivariate logistic regression.ResultsTendinopathy frequency was 63% patellar, 22% rotator cuff and 15% Achilles tendons respectively. Tendinopathy was more common in men (OR = 2.87; 95% CI = 1.67–4.93). Higher age (OR = 8.75; 95% CI = 4.33–17.69) and more years of volleyball practice (OR = 8.38; 95% CI = 3.56–19.73) were risk factors for tendinopathy. The FCRL3 –169T>C frequency was significantly different between cases and controls. After adjustment for potential confounding factors, the FCRL3 –169C polymorphism was associated with increased tendinopathy risk (OR = 1.44; 95% CI = 1.02–2.04), either considering athletes playing with tendon pain (OR = 1.98; 95% CI = 1.30–3.01) or unable to train due to pain (OR = 1.89; 95% CI = 1.01–3.53). The combined variant genotypes, FCRL3 –169TC or –169CC and FOXP3 –2383CT or –2383TT, were associated with an increased risk of tendinopathy among athletes with tendon pain (OR = 2.24; 95% CI: 1.14–4.40 and OR = 2.60; 95% CI: 1.11–6.10). The combined analysis of FCRL3 –169T>C and FOXP3 –2383C>T suggests a gene-gene interaction in the susceptibility to tendinopathy.ConclusionsFCRL3 –169C allele may increase the risk of developing tendinopathy, and together with knowledge of potential risk factors (age, gender and years playing) could be used to personalize elite athletes’ training or treatment in combination with other approaches, with the aim of minimizing pathology development risk.

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Section: Discussionmentioning

confidence: 99%

Fc receptor-like 3 (−169T>C) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study

et al. 2018

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“…ST18 was additionally shown to stimulate PV serum-induced acantholysis and secretion of key inflammatory molecules, supporting a direct role for ST18 in PV pathogenesis ( 80 ). In the Tunisian population, SNPs within the FOXP3 gene were found in association with the susceptibility and clinical course of Pemphigus Foliaceus (PF), a different subtype of the disease ( 81 ). FOXP3 encodes for a TF with a central role in the development and function of regulatory T (Treg) cells, suggesting it may be involved in the disruption of immune self-tolerance in the disease.…”

Section: Association Of Non-hla Genes With Pvmentioning

confidence: 99%

The Genetics of Pemphigus Vulgaris

2018

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Pemphigus vulgaris (PV) is a severe autoimmune blistering disease caused by auto-antibodies (auto-Abs) directed against epithelial desmosomal components and leading to disruption of cell-cell adhesion. The exact mechanisms underlying the disease pathogenesis remain unknown and treatment is still based on immunosuppressive drugs, such as corticosteroids, which are associated with potentially significant side effects. Ethnic susceptibility, familial occurrence, and autoimmune comorbidity, suggest a genetic component to the pathogenesis of the disease, which, if discovered, could advance our understanding of PV pathogenesis and thereby point to novel therapeutic targets for this life-threatening disorder. In this article, we review the evidence for a genetic basis of PV, summarize the different approaches used to investigate susceptibility traits for the disease and describe past and recent discoveries regarding genes associated with PV, most of which belong to the human leukocyte antigen (HLA) locus with limited data regarding association of non-HLA genes with the disease.

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“…The FOXP3 gene is located on chromosome Xp11.23 within an area of AIDs linkage and genetic polymorphism in FOXP3 gene has been proved to be implicated in the pathogenesis of several AIDs, particularly disorders with a female predominance. We analyzed the polymorphism of 4 SNPs (rs3761547, rs3761548, rs3761549, and rs2294021) and a (GT) n microsatellite in the intronic and promoter regions of FOXP3 gene in 98 PF patients and 182 matched HC, all women . According to the epidemiologic features of the disease, patients were classified into two groups: an endemic group ( n = 33) and a sporadic one ( n = 65).…”

Section: Genetic Featuresmentioning

confidence: 99%

“…Most of AIDs are known to be more frequent in women than in men, but the female predominance in endemic Tunisian PF is remarkable as approximately 80% of patients are women with a women/men ratio reaching 12/1 . The predictable clinical improvement of the disease during pregnancy and worsening in postpartum suggest the involvement of hypothalamic‐pituitary‐gonadal (HPG) axis and hormonal factors in the etiopathogenesis of PF.…”

Section: Hormonal Factorsmentioning

confidence: 99%

Update on immunogenetics of Tunisian endemic pemphigus foliaceus

Masmoudi

Abida

Masmoudi

et al. 2018

Journal of Leukocyte Biology

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Pemphigus foliaceus (PF) is an autoimmune blistering skin disease characterized by the presence of bullous skin lesions, the absence of mucous tissue involvement, and the production of autoantibodies directed against a keratinocyte transmembrane protein localized in the desmosome and member of the cadherines, desmoglein 1. These pathogenic auto-antibodies are responsible for the intra-epidermal formation of blisters through the loss of keratinocyte adhesion, the socalled acantholysis process. The endemic form of PF observed in the south of Tunisia is characterized by a significantly higher incidence rate compared to the sporadic form in northern countries, occurrence mainly in young women and the absence of cases during childhood. Tunisian endemic PF is an ideal research model for the decryption of the puzzle of genetic and environmental factors and their interactions in the development of autoimmune diseases. In this review, we will summarize recent findings regarding the epidemiologic and immunologic features of Tunisian PF and its genetic and environmental factors. K E Y W O R D Sautoimmune blistering disease, desmoglein, genetic polymorphism, HLA, Prolactine, TLR

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Role of FOXP3 gene polymorphism in the susceptibility to Tunisian endemic Pemphigus Foliaceus

Cited by 16 publications

References 33 publications

Fc receptor-like 3 (−169T>C) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study

Fc receptor-like 3 (−169T>C) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study

The Genetics of Pemphigus Vulgaris

Update on immunogenetics of Tunisian endemic pemphigus foliaceus

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