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Filaggrin Gene Mutations with Special Reference to Atopic Dermatitis

  • Urticaria and Atopic Dermatitis (M Furue and T Nakahara, Section Editors)
  • Published:
Current Treatment Options in Allergy Aims and scope Submit manuscript

Abstract

Purpose of review

Mutations in the filaggrin gene can cause absent or reduced filaggrin protein, leading to impaired keratinization and skin barrier defect, which produce characteristic phenotypes. In this short review, we report current evidence on the topic with special reference to atopic dermatitis, suggest future directions, and discuss therapeutic implications.

Recent findings

Numerous candidate gene association studies, genome-wide association studies, studies on copy number variations, and, most recently, sequencing studies have confirmed the robust association of mutations in the filaggrin gene with atopic dermatitis, and have also linked these mutations with several other disorders.

Summary

Filaggrin gene defects remain the strongest identified genetic risk factors for atopic dermatitis. Taken in conjunction with other genes found to be associated with this condition, genetic screening and identification of individuals at risk for atopic dermatitis could lead to personalized therapy. Manipulation of genetic regulatory elements to increase the amount of filaggrin protein in deficient individuals is an attractive treatment option for the future.

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References and Recommended Reading

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Authors and Affiliations

  1. Department of Health Sciences, Marieb College of Health & Human Services, Florida Gulf Coast University, Fort Myers, FL, USA

    Jayanta Gupta M.D., Ph.D

  2. Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA

    David J. Margolis M.D., Ph.D

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  1. Jayanta Gupta M.D., Ph.D
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Correspondence to David J. Margolis M.D., Ph.D.

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Jayanta Gupta reports being a co-investigator in a grant from NIAMS. David Margolis reports grants from NIAMS, personal fees from Pfizer, personal fees from Sanofi/Regeneron, grants from Valeant, and personal fees from Leo outside the submitted work.

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Gupta, J., Margolis, D.J. Filaggrin Gene Mutations with Special Reference to Atopic Dermatitis. Curr Treat Options Allergy 7, 403–413 (2020). https://doi.org/10.1007/s40521-020-00271-x

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