ArticlePostepy dermatologii i alergologii2016
The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis.
Article in Postepy dermatologii i alergologii, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 citations in OpenAlex.
- Gene variants associated with skin barrier dysfunction in atopic dermatitis: a systematic review and meta-analysis.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Pooled it
- Pooled it
- Review
- Filaggrin Loss-of-Function Mutations Are Risk Factors for Severe Food Allergy in Children with Atopic Dermatitis.Journal of clinical medicine · 2021Article
- Spontaneous atopic dermatitis in mice with a defective skin barrier is independent of ILC2 and mediated by IL-1β.Allergy · 2019Article
- Structure and function of the epidermal barrier in patients with atopic dermatitis - treatment options. Part one.Postepy dermatologii i alergologii · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe genetic background of atopic dermatitis (AD) is complex, involves many genes and their participation varies in varied populations, and depends on the intensity and course of a disease. Changes in the nucleotide sequence of the FLG gene and a reduced number or a deficit of the functional product of processed profilaggrin can be one of risk factors for atopic dermatitis.
aimTo determine the prevalence of R501X and 2282del4 mutations of the FLG gene in patients with AD. MATERIAL AND
methodsThe studied group included 60 patients with clinically diagnosed AD, and the control group included 61 healthy volunteers. The study protocol included collection of biological material for tests, DNA isolation and evaluation of its quality and quantity, and PCR amplification of the isolated genetic material.
resultsIn the studied group, both changes in the nucleotide sequence of the FLG gene were detected and in the control group no tested mutations were detected. In 18 (30%) patients with AD, 22 mutations (4 heterozygous and 1 homozygous ones of R501X and 10 heterozygous and 7 homozygous ones of 2282del4) were detected.
conclusionsA high rate of mutations of the FLG gene in patients with clinically diagnosed AD and pathologically dry skin was observed in the studied population. The 2282del4 mutation occurred more often than R501X.
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