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Filaggrin sequencing and bioinformatics tools


Atopic dermatitis (AD) is a common illness that most commonly originates in childhood, but can be seen in all ages. Filaggrin (FLG) loss of function variants have been associated with the onset and severity of atopic dermatitis and are the most common genetic association with AD. Previous studies have shown variability in the frequency of FLG variants. We have recently demonstrated that previous FLG genotyping methods were inadequate for proper genotyping. In this concise report, we show that genotyping using a popular older informatics program is problematic. In fact, publications that used the older program likely do not properly capture all FLG variants.

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This study was funded by support from the NIH NIAMS R01-AR069062. The sponsor did not have a role in the design of the study, in the collection, analysis or interpretation of the data, the preparation of this report or in the decision to submit this report for publication. None of the authors have a financial conflict of interest with respect to this investigation.


This study was funded by R01-AR060962 from the National Institutes of Health.

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Correspondence to David J. Margolis.

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Conflict of interest

David Margolis had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. David Margolis receives research funding as the principal investigator via the Trustees of the University of Pennsylvania (R01-AR060962, R01-AR070873, and R01-DK116199) and from the NIH and Valeant Pharmaceuticals (PEER study) and Sunovion Pharmaceuticals. Only funding from R01-AR060962 of was used for this study. He has consulting activities primarily as a member of data monitoring boards or scientific advisory boards with Leo, Johnson and Johnson, Pfizer, Sanofi, Kerecis, and Cell Constructs. None of these activities are associated with the outcomes of this study. Authors Mitra, Wubbenhorst and Nathanson received research funding from R01-AR060962 and report no other authors report conflicts of interest.

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Margolis, D.J., Mitra, N., Wubbenhorst, B. et al. Filaggrin sequencing and bioinformatics tools. Arch Dermatol Res 312, 155–158 (2020). https://doi.org/10.1007/s00403-019-01956-3

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  • Atopic dermatitis
  • Filaggrin
  • Genotyping
  • Informatics