ArticleJournal of human genetics2008
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 71 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
- Probiotics for treating eczema.The Cochrane database of systematic reviews · 2018Pooled it
- Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population.PloS one · 2014Trial
- Unraveling the Pathogenesis of Asian Atopic Dermatitis: Key Characteristics and Insights.Annals of dermatology · 2025Review
- Article
- Efficacy of Topical Application of a Skin Moisturizer Containing Pseudo-Ceramide and a Eucalyptus Leaf Extract on Atopic Dermatitis: A Review.Journal of clinical medicine · 2024Review
- Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.BMC medical genomics · 2023Article
- Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.Nature communications · 2023Article
- Article
- Experimental Drugs with the Potential to Treat Atopic Eczema.Journal of experimental pharmacology · 2021Review
- Role of Antimicrobial Peptides in Skin Barrier Repair in Individuals with Atopic Dermatitis.International journal of molecular sciences · 2020Review
- Genetics in Atopic Dermatitis: Historical Perspective and Future Prospects.Acta dermato-venereologica · 2020Review
- Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India.Frontiers in cellular and infection microbiology · 2020Article
- Human hyper-IgE syndrome: singular or plural?Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- Differences in Genetic Variations Between Treatable and Recalcitrant Atopic Dermatitis in Korean.Allergy, asthma & immunology research · 2018Article
- Filaggrin Mutation in Korean Patients with Atopic Dermatitis.Yonsei medical journal · 2017Article
- Mediators of Chronic Pruritus in Atopic Dermatitis: Getting the Itch Out?Clinical reviews in allergy & immunology · 2016Review
- [Epidermal barrier disorders in dermatoses].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2016Review
- Genetic Basis of Irritant Susceptibility in Health Care Workers.Journal of occupational and environmental medicine · 2016Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Filaggrin (FLG) plays an important role in the barrier function of the skin. Several loss-of-function mutations in the FLG gene have been identified in patients with ichthyosis vulgaris, and these null mutations are associated with atopic dermatitis (AD) development. In this study, we examined tag single nucleotide polymorphisms (tSNPs) and null mutations in FLG for possible associations with AD and atopic phenotypes in a Japanese population. Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554X variant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance. In a case-control comparison of 376 AD cases and 923 nonallergic controls, the null allele of S2554X was significantly associated with AD (P = 0.0012), and the association was strengthened in subjects with AD alone (P = 0.000024). We found that 3321delA and S2554X were also associated with elevated levels of immunoglobulin E (IgE). Combined null mutation carriers were observed more in AD patients and in subjects with high IgE than in control subjects. The combined P value for the family and case-control data was significant for the S2554X and combined null mutations. Our data further support the importance of FLG in AD development.
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Registered trials
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