Influence of single gene variants of FOXP3 on allergic asthma predisposition

Beigh, Afaq H.; Rasool, Roohi; Masoodi, Mahak; Qureshi, Taha; Qadri, Qurteeba; Shah, Zafar A.

doi:10.1016/j.gene.2020.145073

Cited by 4 publications

(3 citation statements)

References 35 publications

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“… AR 54 12q24.12 SH2B3 rs35350651 3p21.2 VPRBP rs62257549 Involved in T cell proliferation and V(D)J recombination in B cell development AR 54 15q22.2 RORA rs1051906 Involved in development of natural helper cell. AR 54 10q24.32 ACTR1A; TMEM180 rs35597970 Involved in regulating TLR-4 and cytokine signaling AR 54 5p13.2 IL7R rs7717955 V(D)J recombination of B and T cell receptors;T cell subtypes have different levels of IL-7R on the cell surface AR 54 1p31.1 LRRIQ3; NEGR1 rs2815765 Cell adhesion AR 54 17q21.2 GSDMB rs7216389 Terminal differentiation of epithelial cells AAS 534 5p13.3 CD14 (-159 C/T) rs2569190 Monocyte activity AAS 535 17q11.2 NOS2 rs10459953 Expressed on T cells, macrophages, epithelial cells, mast cells, eosinophils, and neutrophils in response to inflammatory stimuli AAS 536 Xp11.23 FOXP3 rs3761548,rs3761549 Transcription factor of Treg cell AAS 537 5q31 KIF3A rs11740584, rs2299007 Increased transepidermal water loss (TEWL) AD 538 21q22.23 <...…”

Section: Mechanismmentioning

confidence: 99%

Pathogenesis of allergic diseases and implications for therapeutic interventions

Wang

Zhou

Zhang

et al. 2023

Sig Transduct Target Ther

103

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Allergic diseases such as allergic rhinitis (AR), allergic asthma (AAS), atopic dermatitis (AD), food allergy (FA), and eczema are systemic diseases caused by an impaired immune system. Accompanied by high recurrence rates, the steadily rising incidence rates of these diseases are attracting increasing attention. The pathogenesis of allergic diseases is complex and involves many factors, including maternal-fetal environment, living environment, genetics, epigenetics, and the body’s immune status. The pathogenesis of allergic diseases exhibits a marked heterogeneity, with phenotype and endotype defining visible features and associated molecular mechanisms, respectively. With the rapid development of immunology, molecular biology, and biotechnology, many new biological drugs have been designed for the treatment of allergic diseases, including anti-immunoglobulin E (IgE), anti-interleukin (IL)-5, and anti-thymic stromal lymphopoietin (TSLP)/IL-4, to control symptoms. For doctors and scientists, it is becoming more and more important to understand the influencing factors, pathogenesis, and treatment progress of allergic diseases. This review aimed to assess the epidemiology, pathogenesis, and therapeutic interventions of allergic diseases, including AR, AAS, AD, and FA. We hope to help doctors and scientists understand allergic diseases systematically.

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Section: Mechanismmentioning

confidence: 99%

Pathogenesis of allergic diseases and implications for therapeutic interventions

Wang

Zhou

Zhang

et al. 2023

Sig Transduct Target Ther

103

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“…In the second stage of our study, we found that there were significant differences in the frequencies of the FoxP3 /rs3761548 A allele, AA genotype, AC genotype, CC genotype and C allele between female healthy controls and GD patients. The FoxP3 /rs3761548 polymorphisms the AA genotype was also reported to be a risk factor for several diseases, including MS, acute coronary syndrome, systemic lupus erythematosus, vitiligo, allergy and thyroid cancer 27,32–36 . It is found that the FoxP3 /rs3761548 AA genotype was correlated with a significant decrease in the FoxP3 protein level in the Tregs of generalized vitiligo patients 22 .…”

Section: Discussionmentioning

confidence: 97%

“…The FoxP3/rs3761548 polymorphisms the AA genotype was also reported to be a risk factor for several diseases, including MS, acute coronary syndrome, systemic lupus erythematosus, vitiligo, allergy and thyroid cancer. 27,[32][33][34][35][36] It is found that the FoxP3/rs3761548 AA genotype was correlated with a significant decrease in the FoxP3 protein level in the Tregs of generalized vitiligo patients. 22 Additionally, FoxP3/rs3761548 A allele has been identified to be significantly associated with BD, UC, MS, and RA.…”

Section: Discussionmentioning

confidence: 99%

Association of genetic variations in FoxP3 gene with Graves' disease in a Southwest Chinese Han population

Tan,

Zheng,

et al. 2023

Immunity Inflam & Disease

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BackgroundGraves' disease (GD) is a T cell‐mediated organ‐specific autoimmune disease. Forkhead box P3 (FoxP3) is an excellent marker for the induction and development of regulatory T cells (Tregs). Recent studies showed that single‐nucleotide polymorphisms (SNPs) in the FoxP3 gene were associated with the increased susceptibility to several autoimmune diseases. In the present study, we investigated the association of FoxP3 gene polymorphisms with GD in a Southwest Chinese Han population.MethodsA two‐stage case‐control study was performed in 890 healthy controls (male, 282; female, 608) and 503 patients with GD (male, 138; female, 365). Four SNPs (rs3761548, rs3761549, rs3761547, and rs2280883) were genotyped by the polymerase chain reaction‐restriction fragment length polymorphism assay. The χ2 test was used to compare the genotype distributions and allele frequencies between GD patients and healthy controls.ResultsIn the first stage, the significantly increased frequencies of the A allele (p = .031, odds ratio [OR] = 1.635) and AA genotype (p = .023, OR = 3.257), together with a significantly decreased frequency of the C allele (p = .031, OR = 0.611) of FoxP3/rs3761548 were found in female patients with GD. None of the other FoxP3 SNPs was associated with GD susceptibility. Subsequent validation and combination of data confirmed the association between FoxP3/rs3761548 and the female patients with GD (A allele: p < .001, OR = 1.672; AA genotype: p = .005, OR = 2.488; CC genotype: p = .001, OR = 0.622; C allele: p < .001, OR = 0.615, respectively).ConclusionOur findings suggest that FoxP3/rs3761548 is significantly associated with female GD patients in a Southwest Chinese Han population.

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Associations between vitamin D status and biomarkers linked with inflammation in patients with asthma: a systematic review and meta-analysis of interventional and observational studies

El Abd,

Dasari,

Dodin

et al. 2024

Respir Res

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Background Numerous studies indicate an association between vitamin D status and inflammatory biomarkers in patients with asthma, but findings are inconsistent. This review aims to summarize the relationship between serum vitamin D status, assessed by 25-hydroxyvitamin D (25(OH)D) level, and inflammatory biomarkers in children and adults with asthma. Methods A literature search of interventional and observational studies on 25(OH)D up to November 2022 was conducted across six electronic databases. Outcomes of interest included a range of inflammatory biomarkers classified in four categories: T helper 2 (Th2) pro-inflammatory, non-Th2 pro-inflammatory, anti-inflammatory, and non-specific biomarkers. Study characteristics were extracted and risk of bias was evaluated using the American Academy of Nutrition and Dietetics tool. Meta-analysis was conducted on studies with a low risk of bias, while narrative reporting was used to present the direction of associations (positive, no association, or negative) for each biomarker, overall and within the low-risk studies. Results We included 71 studies (3 interventional, 68 observational) involving asthma patients. These studies investigated the association between serum 25(OH)D and Th2 pro-inflammatory biomarkers (N = 58), non-Th2 pro-inflammatory biomarkers (N = 18), anti-inflammatory biomarkers (N = 16), and non-specific biomarkers (N = 10). Thirteen (18.3%) studies, 50 (70.4%), and 8 (11.3%) were at high, moderate, and low risk of bias, respectively. In all studies, irrespective of risk of bias, the most frequently reported finding was no significant association, followed by a negative association between 25(OH)D and pro-inflammatory biomarkers and a positive association with anti-inflammatory biomarkers. In low-risk studies, one biomarker could be meta-analysed. The pooled estimate for 25(OH)D and serum IgE showed a negative association (β (95% CI)= − 0.33 (–0.65 to − 0.01); I2 = 88%; N = 4 studies). A negative association between 25(OH)D and blood eosinophils was also observed in the largest of three studies, as well as with cathelicidin (LL-37) in the only study reporting it. For other biomarkers, most low-risk studies revealed no significant association with 25(OH)D. Conclusion Serum 25(OH)D is negatively associated with serum IgE and possibly with blood eosinophils and LL-37, supporting an in vivo immunomodulatory effect of 25(OH)D. Future research should employ rigorous methodologies and standardized reporting for meta-analysis aggregation to further elucidate these associations.

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Influence of single gene variants of FOXP3 on allergic asthma predisposition

Cited by 4 publications

References 35 publications

Pathogenesis of allergic diseases and implications for therapeutic interventions

Pathogenesis of allergic diseases and implications for therapeutic interventions

Association of genetic variations in FoxP3 gene with Graves' disease in a Southwest Chinese Han population

Associations between vitamin D status and biomarkers linked with inflammation in patients with asthma: a systematic review and meta-analysis of interventional and observational studies

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