Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis

Hertz, Amanda; Azulay‐Abulafia, Luna; Nascimento, Adriana Paulino do; Ohara, Cintya Yumi; Kuschnir, Fábio Chigres; Pôrto, Luís Cristóvão

doi:10.1016/j.abd.2019.07.002

Cited by 14 publications

(29 citation statements)

References 18 publications

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“…The literature search identified 25,601 records from electronic databases and 29 records from manual searches; 6014 duplicate records and 4393 conference abstracts were excluded, and of the 15,194 remaining unique records, 15,020 were excluded because they did not meet the inclusion criteria (Figure 1; Appendix S2). A total of 56 papers 26–82 were included in the qualitative synthesis, reporting results from 14 prospective birth cohorts, 22 prospective cohorts, 2 retrospective cohorts, and 22 cross‐sectional studies. The studies included between 37 and 1528 AD patients located in Europe ( n = 29), America ( n = 18), UK ( n = 6), Asia ( n = 5), or Australia ( n = 2).…”

Section: Resultsmentioning

confidence: 99%

Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: A systematic review

Broderick

Ziehfreund

Bart

et al. 2022

Allergy

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Biomarkers associated with the development of comorbidities in atopic dermatitis (AD) patients have been reported, but have not yet been systematically reviewed.Seven electronic databases were searched, from database inception to September 2021. English language randomized controlled trials, prospective and retrospective cohort, and case-control studies that investigated the association between a biomarker and the development of comorbidities in AD patients were included. Two authors independently screened the records for eligibility, one extracted all data, and critically appraised the quality of studies and risk of bias. Fifty six articles met the inclusion criteria, evaluating 146 candidate biomarkers. The most frequently reported biomarkers were filaggrin mutations and allergen specific-IgE. Promising biomarkers include specific-IgE and/or skin prick tests predicting the development of asthma, and genetic polymorphisms predicting the occurrence of eczema herpeticum. The identified studies and biomarkers were highly heterogeneous, and associated with predominately moderate-to-high risk of bias across multiple domains. Overall, findings were inconsistent. High-quality studies assessing biomarkers associated with the development of comorbidities in people with AD are lacking. Harmonized datasets and independent validation studies are urgently needed.

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Section: Resultsmentioning

confidence: 99%

Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: A systematic review

Broderick

Ziehfreund

Bart

et al. 2022

Allergy

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“…34,35 Data concerning the role of filaggrin mutations are contradictory. 36,37 An African ancestry background is more likely to induce a stronger Th2 immune response and an allergic disease. 38 In our study, bites and envenomations were frequent, particularly snakebites, which are associated with a high mortality and are now considered an NTD.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of skin diseases in Maroon villages of the Maroni area, French Guiana

et al. 2022

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Background Due to their genetic characteristics and their high exposure to infectious diseases, Maroons are likely to suffer from a specific spectrum of skin diseases. However, skin disorders have never been explored in this population. We aimed to describe all skin diseases in Maroon villages of the Maroni region in French Guiana. Methods This retrospective study concerned all patients who consulted in the remote health centers of Apatou, Grand‐Santi, Papaichton, and Maripasoula between October 5, 2017, and June 30, 2020. We included all patients registered with a skin disorder (International Classification of Diseases) in the medical database. We excluded patients whose diagnosis was invalidated after cross‐checking by a dermatologist. Results A total of 4741 patients presented at least one skin disease, for 6058 different disorders. Nonsexually transmitted infections represented 71.6% of all diagnoses, followed by inflammatory diseases (9.8%) and bites/envenomations (4.6%). The three most frequent conditions were scabies, abscesses, and impetigo. Besides scabies, neglected tropical diseases (NTDs) were still prevalent as we reported 13 cases of leprosy and 63 cutaneous leishmaniasis. Atopic dermatitis (AD) represented only 2.5% of our diagnoses. Conclusions With the exception of AD, which was less frequent among Maroons, these results are similar to those previously reported in Amerindians. Therefore, a common exposure to rainforest pathogens seems to induce a common spectrum of skin diseases dominated by infections. The high prevalence of NTDs requires specific public health actions.

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“…Our results are in agreement with findings in a cohort of African-American children demonstrating that the rs12568784 variant in FLG2 was correlated with more persistent atopic eczema [ 69 , 70 ]. In contrast, no association was found between two FLG-2 SNPs (rs12568784 and rs16899374) and atopic eczema in a Brazilian population [ 71 ]. To the best of our knowledge, our study is the first report showing that a common nonsense mutation of FLG2 is associated with atopic eczema in a population of European children.…”

Section: Discussionmentioning

confidence: 99%

Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case–Control Study in Children

Dębińska

Danielewicz

Sozańska

2022

JCM

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Atopic eczema is the most common chronic inflammatory skin disease of early childhood and is often the first manifestation of atopic march. Therefore, one challenge is to identify the risk factors associated with atopic eczema that may also be predictors of atopic disease progression. The aim of this study was to investigate the association of SNPs in hornerin (HRNR) and filaggrin-2 (FLG2) genes with childhood atopic eczema, as well as other atopic phenotypes. Genotyping for HRNR and FLG2 was performed in 188 children younger than 2 years of age, previously screened for the FLG null mutations, and followed at yearly intervals until the age of 6. We demonstrated that risk variants of HRNR rs877776[C] and FLG2 rs12568784[T] were associated with atopic eczema, allergic sensitization, and susceptibility to the complex phenotype—asthma plus eczema. These effects seem to be supplementary to the well-known associations for FLG mutations and may be modulated by gene–gene interactions. Additionally, in children with eczema, these genetic variants may also be considered, along with FLG mutations, as predictive biomarkers for eczema-associated asthma. In conclusion, our results indicate that genetic variants in the epidermal differentiation complex gene could contribute to the pathogenesis of atopic eczema and progression to subsequent allergic disease.

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Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis

Cited by 14 publications

References 18 publications

Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: A systematic review

Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: A systematic review

Spectrum of skin diseases in Maroon villages of the Maroni area, French Guiana

Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case–Control Study in Children

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