Republication de : Filagrin and allergy
2022
Bouchaud, Grégory
Английский. Mutations in the filaggrin gene (FLG) are among the most com-mon and profound single-gene defects identified to date in thecausation and modification of disease. FLG encodes an importantepidermal protein abundantly expressed in the outer layers of theepidermis [1]. Approximately 10% of persons of European ances-try are heterozygous carriers of a loss-of-function mutation in FLG,resulting in a 50% reduction in expressed protein [2]. The criticalrole of filaggrin in epidermal function underlies the pathogenicimportance of this gene in common dermatologic and allergicdiseases. The spectrum of such diseases encompasses monogenicdisorders of keratinization through complex abnormalities of epi-dermal transport of lipids and allergens. FLG mutation carriershave a greatly increased risk of common complex traits, includingatopic dermatitis (which affects 42% of all mutation carriers), con-tact allergy, asthma, hay fever, and peanut allergy. These geneticvariants also influence the severity of asthma and alopecia areataand susceptibility to herpetic infection.
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