Abstract
Loss-of-function (LOF) mutations in the filaggrin gene (FLG) are the strongest known genetic risk factors for atopic dermatitis (AD). The genetic architecture of FLG mutations is well established in European, Japanese, and selected Chinese populations, but their contribution to AD in African populations is not well understood. The only data on FLG mutations in Africans come from a recent study conducted in Ethiopia1 that studied 103 patients with AD, 7 patients with ichthyosis vulgaris (IV), and 103 healthy controls.
Highlights
The genetic architecture of filaggrin gene (FLG) mutations is well established in European, Japanese, and selected Chinese populations, but their contribution to atopic dermatitis (AD) in African populations is not well understood
The primers used for the amplification of the FLG gene were originally optimized for the sequencing of European populations,[2] in the 31 amaXhosa patients with AD who were sequenced, we identified 124 mutations throughout exon 3 of the FLG gene by using these methods
In addition to gene sequencing, in all patients with AD and controls, we determined the concentrations of filaggrin breakdown products in the stratum corneum (SC)
Summary
South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin To the Editor: Loss-of-function (LOF) mutations in the filaggrin gene (FLG)
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