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Filaggrin sequencing and bioinformatics tools.

David J Margolis1,2,3, Nandita Mitra4,5, Bradley Wubbenhorst4,6

  • 1Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA. margo@pennmedicine.upenn.edu.

Archives of Dermatological Research
|August 3, 2019
PubMed
Summary
This summary is machine-generated.

Older informatics programs may misidentify filaggrin (FLG) variants in atopic dermatitis (AD) research. This impacts the accuracy of genetic association studies for this common skin condition.

Keywords:
Atopic dermatitisFilaggrinGenotypingInformatics

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Area of Science:

  • Genetics
  • Dermatology
  • Bioinformatics

Background:

  • Atopic dermatitis (AD) is a prevalent inflammatory skin condition affecting all age groups.
  • Loss-of-function variants in the filaggrin (FLG) gene are strongly associated with AD onset and severity.
  • Previous studies reported inconsistent frequencies of FLG variants, suggesting potential methodological issues.

Purpose of the Study:

  • To evaluate the accuracy of FLG genotyping methods.
  • To identify potential issues with older bioinformatics programs used in FLG variant analysis.
  • To highlight the impact of genotyping inaccuracies on AD genetic research.

Main Methods:

  • Comparative analysis of FLG genotyping techniques.
  • Assessment of a popular older informatics program for its ability to accurately genotype FLG variants.
  • Review of existing literature utilizing specific genotyping methods.

Main Results:

  • Older informatics programs demonstrate significant problems in accurately genotyping FLG variants.
  • Publications relying on these older programs may have failed to identify all relevant FLG variants.
  • Genotyping inaccuracies can lead to a misrepresentation of FLG variant frequencies in AD.

Conclusions:

  • Current FLG genotyping methods, particularly older informatics programs, require re-evaluation for accuracy.
  • The reliability of previous genetic association studies for AD may be compromised by inadequate genotyping.
  • Accurate FLG genotyping is crucial for understanding its role in atopic dermatitis pathogenesis.