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Filaggrin Genotyping

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Filaggrin

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Abstract

Detection of genetic variations in the human genome has evolved from classic labor-intensive to more automated high-throughput methods. Mutations in the gene encoding profilaggrin (the filaggrin gene, FLG) were for quite some time suspected to influence the skin barrier. In 2006, the first two mutations were identified. Primarily due to the highly repetitive structure of the gene, genotyping had been difficult. Since then more than 1,300 variants in the FLG gene have been described. About 60 of these mutations result in loss of function, due to introduction of early stop codons or frameshifts.

We provide in this chapter a short overview of the present methods used for FLG genotyping and some advice for maintaining valid results.

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  1. Department of Clinical Biochemistry, Gentofte Hospital, University of Copenhagen, Niels Andersensvej 65, Hellerup, 2900, Denmark

    Pal B. Szecsi MD, DMSci & Michael Meldgaard MS, PhD

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  1. Pal B. Szecsi MD, DMSci
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Correspondence to Pal B. Szecsi MD, DMSci .

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  1. Department of Dermato-Allergology, National Allergy Research Centre, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark

    Jacob P. Thyssen

  2. Department of Dermatology, University of California, San Francisco, California, USA

    Howard I. Maibach

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Szecsi, P.B., Meldgaard, M. (2014). Filaggrin Genotyping. In: Thyssen, J., Maibach, H. (eds) Filaggrin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54379-1_11

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