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Matthew J. Zirwas, MD

Arch Dermatol. 2007;143(11):1437-1438.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

Common Loss-of-Function Variants of the Epidermal Barrier Protein Filaggrin Are a Major Predisposing Factor for Atopic Dermatitis
Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al
Nat Genet. 2006;38(4):441-446

Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by 9% of people of European origin. These variants also show . . . [Full Text of this Article]

COMMENT

AUTHOR INFORMATION

Division of Dermatology, Department of Medicine, Ohio State University School of Medicine, Columbus