Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema

Abstract

Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.

Filaggrin null mutations and childhood atopic eczema: A population-based case-control study

“…Second, we compared the allele frequencies for each of the 5 FLG mutations in our study cohort with those of an unselected 1000 samples from age-matched children in the same birth cohort (screened as part of another study 34 ) and found no significant difference (P >.05, Fisher exact test; these data are available in Table E2 in the Online Repository at www.jacionline.org). We therefore conclude that our cohort is representative of the local population, and hence we can use it to estimate the true risk (or penetrance) associated with FLG mutations and not just their relative risk, which would be estimated from a selected case-control study.…”

Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease

“…In addition to single-mutation analysis of R501X and 2282del4 and additional less common variants in some studies, [12][13][14][15] association analysis was also performed on a combined genotype because the variants are in trans and are considered to have biologically equivalent effects. 12 Individuals carrying 1 mutated and 1 wild-type allele were coded as heterozygous and individuals heterozygous for 2 polymorphisms or homozygous for 1 polymorphism were coded as homozygous for the combined genotype.…”

Mechanisms of IFN-γ–induced apoptosis of human skin keratinocytes in patients with atopic dermatitis

“…[1][2][3] Linkage and association studies have identified several candidate genes possibly linked to either epidermal barrier function or to immune processes. 2,4 For instance, variants of IL4/IL13 receptor, 5,6 IL13, 7 and the gene encoding the a-chain of the high-affinity receptor for IgE (FCER1A) have been shown to be associated with AD. 8 Concordantly, a predominant T H 2 bias with increased IgE levels is a widely recognized hallmark of AD.…”