ArticlePloS one2017
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.
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Who cites it
7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 13 citations in OpenAlex.
- Classifying atopic dermatitis: a systematic review of phenotypes and associated characteristics.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Pooled it
- Pooled it
- Review
- Non-IgE Mediated Hypersensitivity to Food Products or Food Intolerance-Problems of Appropriate Diagnostics.Medicina (Kaunas, Lithuania) · 2021Article
- Novel Homozygous Mutations in the GenesGenes · 2021Article
- Clinical relevance of eosinophils, basophils, serum total IgE level, allergen-specific IgE, and clinical features in atopic dermatitis.Journal of clinical laboratory analysis · 2020Article
- Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans.PloS one · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFLG encodes a large protein called profilaggrin, which plays a key role in maintaining an effective skin barrier against the environment. In this study, we identified FLG single nucleotide variations (FLG-SNVs) and evaluated the association of FLG-SNVs with clinical phenotypes including atopic dermatitis (AD)-associated minor clinical features, presence of specific allergic sensitization, and serum parameters.
methodsEighty-one Korean patients with AD were enrolled. AD-associated minor clinical features as well as allergic rhinitis and asthma were diagnosed by specialists. FLG-SNVs were identified by Sanger sequencing of entire exons through long-range PCR. Allergic sensitization to a specific allergen was evaluated by multiple allergen simultaneous test. Serologic parameters such as serum eosinophil cationic protein (ECP) and eosinophil derived neurotoxin (EDN) were measured.
resultsA total of seventy-three SNVs and 4 LOF mutations were successfully genotyped. rs71626704 and rs76413899 were significantly associated with a history of asthma and cheilitis (P = 0.002 and P = 0.033, respectively), however, the associations were not found statistically significant after adjustment by multiple comparisons. In addition, we detected haplotype blocks which were correlated with non-specific hand or foot dermatitis and scalp scale. We identified FLG-SNVs which were associated with sensitization to environmental allergens; rs62623409 and rs71625199 (P = 0.038 and P = 0.008, respectively). Patients with FLG P478S TT and history of allergic rhinitis showed a higher EDN level, and among those patients, the ones with asthma showed a higher ECP level.
conclusionThis study revealed the association of FLG-SNVs with AD-associated minor clinical features. We firstly identified rs71625199 which was associated with higher environmental allergic sensitization. We also suggest that FLG P478S is a kind of disease modifier which affects serologic parameters such as EDN and ECP.
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