Filaggrin Gene Defects and the Risk of Developing Allergic Disorders

Allergology International - Tập 60 Số 1 - Trang 1-9 - 2011
R. Osawa1, Masashi Akiyama2, Hiroshi Shimizu1
1Department of Dermatology, Hokkaido University Graduate School of Medicine, Hokkaido.
2Department of Dermatology, Nagoya University Graduate School of Medicine, Aichi, Japan

Tóm tắt

Từ khóa


Tài liệu tham khảo

Candi, 2005, The cornified envelope: a model of cell death in the skin, Nat Rev Mol Cell Biol, 6, 328, 10.1038/nrm1619

Sybert, 1985, Ichthyosis vulgaris: Identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules, J Invest Dermatol, 84, 191, 10.1111/1523-1747.ep12264813

McGrath, 2008, The filaggrin story: Novel insights into skin-barrier function and disease, Trends Mol Med, 14, 20, 10.1016/j.molmed.2007.10.006

McGrath, 2008, Filaggrin and the great epidermal barrier grief, Australas J Dermatol, 49, 67, 10.1111/j.1440-0960.2008.00443.x

Sandilands, 2007, Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis and atopic eczema, Nat Genet, 39, 650, 10.1038/ng2020

Akiyama, 2010, FLG mutations in ichthyosis vulgaris and atopic eczema: Spectrum of mutations and population genetics, Br J Dermatol, 162, 472, 10.1111/j.1365-2133.2009.09582.x

Ad, 2006, Breaking the (un)sound barrier: Filaggrin is a major gene for atopic dermatitis, J Invest Dermatol, 126, 1200, 10.1038/sj.jid.5700365

Van den Oord, 2009, Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: Systematic review and meta-analysis, BMJ, 339, b2433, 10.1136/bmj.b2433

Akiyama, 2008, An update on molecular aspects of the non-syndromic ichthyoses, Exp Dermatol, 17, 373, 10.1111/j.1600-0625.2007.00691.x

Steinert, 1981, Characterization of a class of cationic proteins that specifically interact with intermediate filaments, Proc Natl Acad Sci USA, 78, 4097, 10.1073/pnas.78.7.4097

Dale, 1985, Filaggrin: A keratin filament associated protein, Ann NY Acad Sci, 455, 330, 10.1111/j.1749-6632.1985.tb50420.x

Listwan, 2004, Keratin bundling proteins, Methods Cell Biol, 78, 817, 10.1016/S0091-679X(04)78028-0

Sandilands, 2009, Filaggrin in the frontline: Role in skin barrier function and disease, J Cell Sci, 122, 1285, 10.1242/jcs.033969

Sandilands, 2007, Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema, Nat Genet, 39, 650, 10.1038/ng2020

Gan, 1990, Organization, structure, and polymorphisms of the human profilaggrin gene, Biochemistry, 29, 9432, 10.1021/bi00492a018

Rawlings, 2004, Moisturization and skin barrier function, Dermatol Ther, 17, 43, 10.1111/j.1396-0296.2004.04S1005.x

Smith, 2006, Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris, Nat Genet, 38, 337, 10.1038/ng1743

Fleckman, 2002, Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris, Exp Dermatol, 11, 327, 10.1034/j.1600-0625.2002.110406.x

O’Regan, 2009, Filaggrin in atopic dermatitis, J Allergy Clin Immunol, 124, R2, 10.1016/j.jaci.2009.07.013

Nemoto-Hasebe, 2009, Flg mutation p.Lys4021x in the c-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema, Br J Dermatol, 161, 1387, 10.1111/j.1365-2133.2009.09406.x

Palmer, 2006, Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis, Nat Genet, 38, 441, 10.1038/ng1767

Sandilands, 2006, Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis, J Invest Dermatol, 126, 1770, 10.1038/sj.jid.5700459

Nomura, 2007, Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis, J Allergy Clin Immunol, 119, 434, 10.1016/j.jaci.2006.12.646

Nomura, 2008, Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan, J Invest Dermatol, 128, 1436, 10.1038/sj.jid.5701205

Nomura, 2009, Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis, J Invest Dermatol, 129, 1302, 10.1038/jid.2008.372

Hamada, 2008, De novo occurrence of the filaggrin mutation p.R501x with prevalent mutation c.3321dela in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis, J Invest Dermatol, 128, 1323, 10.1038/sj.jid.5701164

Chen, 2008, Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris, J Invest Dermatol, 128, 1669, 10.1038/jid.2008.2

Hsu, 2009, Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations, Br J Dermatol, 161, 448, 10.1111/j.1365-2133.2009.09112.x

Kang, 2009, Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis, Dermatology, 218, 186, 10.1159/000163083

Kay, 1994, The prevalence of childhood atopic eczema in a general population, J Am Acad Dermatol, 30, 35, 10.1016/S0190-9622(94)70004-4

Baurecht, 2007, Toward a major risk factor for atopic eczema: Meta-analysis of filaggrin polymorphism data, J Allergy Clin Immunol, 120, 1406, 10.1016/j.jaci.2007.08.067

Aalto-Korte, 1995, Improvement of skin barrier function during treatment of atopic dermatitis, J Am Acad Dermatol, 33, 969, 10.1016/0190-9622(95)90288-0

Hata, 2002, Assessment of epidermal barrier function by photoacoustic spectrometry in relation to its importance in the pathogenesis of atopic dermatitis, Lab Invest, 82, 1451, 10.1097/01.LAB.0000036874.83540.2B

Jakasa, 2006, Percutaneous penetration of sodium lauryl sulphate is increased in uninvolved skin of patients with atopic dermatitis compared with control subjects, Br J Dermatol, 155, 104, 10.1111/j.1365-2133.2006.07319.x

Wells, 1965, Genetic classification of ichthyosis, Arch Dermatol, 92, 1, 10.1001/archderm.1965.01600130007001

Kuokkanen, 1969, Ichthyosis vulgaris. A clinical and histopathological study of patients and their close relatives in the autosomal dominant and sex-linked forms of the disease, Acta Derm Venereol Suppl (Stockh), 62, 1

Tay, 1999, The epidemiology of atopic dermatitis at a tertiary referral skin center in Singapore, Asian Pac J Allergy Immunol, 17, 137

Compton, 2002, Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1, Exp Dermatol, 11, 518, 10.1034/j.1600-0625.2002.110604.x

Sugiura, 2005, Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope, Br J Dermatol, 152, 146, 10.1111/j.1365-2133.2005.06352.x

Seguchi, 1996, Decreased expression of filaggrin in atopic skin, Arch Dermatol Res, 288, 442, 10.1007/BF02505232

Morar, 2007, Filaggrin mutations in children with severe atopic dermatitis, J Invest Dermatol, 127, 1667, 10.1038/sj.jid.5700739

Marenholz, 2006, Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march, J Allergy Clin Immunol, 118, 866, 10.1016/j.jaci.2006.07.026

Ruether, 2006, Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany, Br J Dermatol, 155, 1093, 10.1111/j.1365-2133.2006.07500.x

Weidinger, 2006, Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations, J Allergy Clin Immunol, 118, 214, 10.1016/j.jaci.2006.05.004

Barker, 2007, Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood, J Invest Dermatol, 127, 564, 10.1038/sj.jid.5700587

Stemmler, 2007, Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis, J Invest Dermatol, 127, 722, 10.1038/sj.jid.5700579

Weidinger, 2007, Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis, J Invest Dermatol, 127, 724, 10.1038/sj.jid.5700630

Spergel, 2003, Atopic dermatitis and the atopic march, J Allergy Clin Immunol, 112, S118, 10.1016/j.jaci.2003.09.033

Rodriguez, 2009, Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease, J Allergy Clin Immunol, 123, 1361, 10.1016/j.jaci.2009.03.036

Osawa, 2010, Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma, J Invest Dermatol, 130, 2834, 10.1038/jid.2010.218

Presland, 2000, Epithelial structural proteins of the skin and oral cavity: function in health and disease, Crit Rev Oral Biol Med, 11, 383, 10.1177/10454411000110040101

Ying, 2006, Lack of filaggrin expression in the human bronchial mucosa, J Allergy Clin Immunol, 118, 1386, 10.1016/j.jaci.2006.08.030

Hudson, 2006, Skin barrier function and allergic risk, Nat Genet, 38, 399, 10.1038/ng0406-399

Callard, 2007, The skin barrier, atopic dermatitis and allergy: A role for Langerhans cells?, Trends Immunol, 28, 294, 10.1016/j.it.2007.05.003

Brown, 2008, Filaggrin null mutations and childhood atopic eczema: a population-based case–control study, J Allergy Clin Immunol, 121, 940, 10.1016/j.jaci.2008.01.013

Weidinger, 2008, Filaggrin mutations, atopic eczema, hay fever, and asthma in children, J Allergy Clin Immunol, 121, 1203, 10.1016/j.jaci.2008.02.014

Elias, 2008, Basis for the barrier abnormality in atopic dermatitis: Outside-inside-outside pathogenic mechanisms, J Allergy Clin Immunol, 121, 1337, 10.1016/j.jaci.2008.01.022

Cork, 2003, Comparison of parent knowledge, therapy utilization and severity of atopic eczema before and after explanation and demonstration of topical therapies by a specialist dermatology nurse, Br J Dermatol, 149, 582, 10.1046/j.1365-2133.2003.05595.x

Chamlin, 2002, Ceramide-dominant barrier repair lipids alleviate childhood atopic dermatitis: Changes in barrier function provide a sensitive indicator of disease activity, J Am Acad Dermatol, 47, 198, 10.1067/mjd.2002.124617

Henderson, 2008, The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study, J Allergy Clin Immunol, 121, 872, 10.1016/j.jaci.2008.01.026

Nemoto-Hasebe, 2009, Clinical severity correlates with impaired barrier in filaggrin-related eczema, J Invest Dermatol, 129, 682, 10.1038/jid.2008.280