Filaggrin sequencing and bioinformatics tools

Arch Dermatol Res. 2020 Mar;312(2):155-158. doi: 10.1007/s00403-019-01956-3. Epub 2019 Aug 1.

Abstract

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.

Keywords: Atopic dermatitis; Filaggrin; Genotyping; Informatics.

MeSH terms

  • Amino Acid Sequence
  • Computational Biology*
  • Dermatitis, Atopic / genetics*
  • Filaggrin Proteins
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Mutation

Substances

  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins