Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Mar;312(2):155-158.
doi: 10.1007/s00403-019-01956-3. Epub 2019 Aug 1.

Filaggrin sequencing and bioinformatics tools

David J Margolis  1   2   3 , Nandita Mitra  4   5 , Bradley Wubbenhorst  4   6 , Katherine L Nathanson  4   6   7
Affiliations

Filaggrin sequencing and bioinformatics tools

David J Margolis et al. Arch Dermatol Res. 2020 Mar.

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.

PubMed Disclaimer

References

    1. Akdis CA, Akdis M, Bieber T, Bindslev-Jensen C, Boguniewicz M, Eigenmann P, et al. Diagnosis and treatment of atopic dermatitis in children and adults: European Academy of Allergology and Clinical Immunology/American Academy of Allergy, Asthma and Immunology/PRACTALL Consensus Report. . Allergy. 2006;61(8):969–87. - PubMed
    1. Charman CR, Williams HC. Epidemiology In: Bieber T, Leung DYM, Atopic Dermatitis. New York: Marcel Dekker, Inc; 2002:21–42.
    1. Eichenfield LF, Tom WL, Chamlin SL, Feldman SR, Hanifin JM, Simpson EL, et al. Guidelines of care for the management of atopic dermatitis: section 1. Diagnosis and assessment of atopic dermatitis. [Review]. Journal of the American Academy of Dermatology. 2014;70(2):338–51. - PMC - PubMed
    1. Leung DY, Bieber T. Atopic dermatitis. [Review] [100 refs]. Lancet. 2003;361(9352):151–60. - PubMed
    1. Ober C, Yao TC. The genetics of asthma and allergic disesae: A 21st century perspective. Immunological Reviews. 2011;242(11):10–30. - PMC - PubMed

LinkOut - more resources