Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association

Abstract

Towards a ''free radical theory of graying'': melanocyte apoptosis in the aging human hair follicle is an indicator of oxidative stress induced tissue damage. FASEB J 20:1567-9 Commo S, Gaillard O, Thibaut S et al. (2004) Absence of TRP-2 in melanogenic melanocytes of human hair. Pigment Cell Res 17:488-97 Gunn DA, Rexbye H, Griffiths CE et al. (2009) Why some women look young for their age. PLoS One 4:e8021 Michard Q, Commo S, Rocchetti J et al. (2008) TRP-2 expression protects HEK cells from dopamine-and hydroquinone-induced toxicity. Free Radic Biol Med 45:1002-10 Nishimura EK, Granter SR, Fisher DE (2005) Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche. Science 307:720-4 Pawelek JM, Lerner AB (1978) 5,6-Dihydroxyindole is a melanin precursor showing potent cytotoxicity. Nature 276:626-8 Pelle E, Mammone T, Maes D et al. (2005) Keratinocytes act as a source of reactive oxygen species by transferring hydrogen peroxide to melanocytes.

Copy-number variation of the filaggrin gene in Korean patients with atopic dermatitis: what really matters, ‘number’ or ‘variation’?

“…Dear Editor , Since the articles reporting a methodological breakthrough on the full sequencing of the gene encoding profilaggrin ( FLG ), associations between loss‐of‐function mutations of FLG and atopic dermatitis (AD) have been reported across ethnicities . However, both the low prevalence of FLG mutations in patients with AD in some nations (< 4% in Italy) and the high prevalence of FLG mutations in healthy control in other nations (~ 10% in Ireland) suggest that factors other than FLG mutation may be at work . Brown et al .…”

FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation

“…4 The sequence analysis revealed 2 unknown null mutations only in 2 Egyptian patients (repeat 1: c.1531G[T, giving p.E511X; repeat 10: c.11014 G[T, giving p.E3672X). None of the risk variants were detected, suggesting that the R501X and 2282del4 mutations are uncommon among the Egyptian and Greek populations.…”

Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production

“…Accordingly, the highest prevalence of reported FLG mutations in Asians were from Shenyang, China (41° latitude, 6.5 %) and Fukui, Japan (36°, 6.5 %), both relatively far to the north in Asia. Most pertinently, population cohorts of Tunisians, Ethiopians (Winge et al 2011), Italians (Cascella et al 2011), Bangladeshi (Sinclair et al 2009), and very recently, a homogenous population of native Xhosa from South Africa (Thawer-Esmail et al 2014) show a very low prevalence of FLG mutations even in atopic populations. The relatively low mutation prevalence of Austrians in comparison to other central-to-northern Europeans likely reflects centuries of downward, transnational migration of more pigmented Slavs from northern Eurasia.…”