Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Nature Genetics

Volumn 38, Issue 4, 2006, Pages 441-446

  Palmer, Colin N A ^a   Irvine, Alan D ^b   Terron Kwiatkowski, Ana ^a   Zhao, Yiwei ^a   Liao, Haihui ^a   Lee, Simon P ^a   Goudie, David R ^c   Sandilands, Aileen ^a   Campbell, Linda E ^a   Smith, Frances J D ^a   O'Regan, Gráinne M ^b   Watson, Rosemarie M ^b   Cecil, Jo E ^d   Bale, Sherri J ^e   Compton, John G ^e   DiGiovanna, John J ^f,g   Fleckman, Philip ^h   Lewis Jones, Sue ^c   Arseculeratne, Gehan ^c   Sergeant, Ann ⁱ   Munro, Colin S ⁱ   Houate, Brahim El ^j   McElreavey, Ken ^j   Halkjaer, Liselotte B ^k   Bisgaard, Hans ^k   Mukhopadhyay, Somnath ^a   McLean, W H Irwin ^a   more..

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c NHS TAYSIDE   (United Kingdom)

^d UNIVERSITY OF ST ANDREWS   (United Kingdom)

^e GENEDX   (United States)

^f BROWN UNIVERSITY   (United States)

^g NATIONAL CANCER INSTITUTE   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

ⁱ NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

^j INSTITUT PASTEUR   (France)

^k GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN;

ARTICLE; ASTHMA; ATOPIC DERMATITIS; CAUCASIAN; CHILD; DISEASE PREDISPOSITION; EPITHELIUM; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HERITABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ALLELES; ASTHMA; CHILD; COHORT STUDIES; DERMATITIS, ATOPIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MUTATION; PEDIGREE; SKIN PHYSIOLOGY;

EID: 33645399288     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1767     Document Type: Article

References (30)

1. Holgate, S.T. The epidemic of allergy and asthma. Nature 402, B2-B4 (1999).
2. Van Eerdewegh, P. et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 418, 426-430 (2002).
3. Cookson, W.O. & Moffatt, M.F. The genetics of atopic dermatitis. Curr. Opin. Allergy Clin. Immunol. 2, 383-387 (2002).
4. Candi, E., Schmidt, R. & Melino, G. The cornified envelope: a model of cell death in the skin. Nat. Rev. Mol. Cell Biol. 6, 328-340 (2005).
5. Listwan, P. & Rothnagel, J.A. Keratin bundling proteins. Methods Cell Biol. 78, 817-827 (2004).
6. Gan, S.Q., McBride, O.W., Idler, W.W., Markova, N. & Steinert, P.M. Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 29, 9432-9440 (1990).
7. Presland, R.B. & Dale, B.A. Epithelial structural proteins of the skin and oral cavity: function in health and disease. Crit. Rev. Oral Biol. Med. 11, 383-408 (2000).
8. Compton, J.G., DiGiovanna, J.J., Johnston, K.A., Fleckman, P. & Bale, S.J. Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Exp. Dermatol. 11, 518-526 (2002).
9. Smith, F.J. et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat. Genet. 38, 337-342 (2006).
10. Bisgaard, H. The Copenhagen prospective study on asthma in childhood (COPSAC): design, rationale, and baseline data from a longitudinal birth cohort study. Ann. Allergy Asthma Immunol. 93, 381-389 (2004).
11. Masoli, M., Fabian, D., Holt, S. & Beasley, R. The global burden of asthma: executive summary of the GINA Dissemination Committee report. Allergy 59, 469-478 (2004).
12. Spergel, J.M. & Paller, A.S. Atopic dermatitis and the atopic march. J. Allergy Clin. Immunol. 112, S118-S127 (2003).
13. Tabata, N., Tagami, H. & Kligman, A.M. A twenty-four-hour occlusive exposure to 1% sodium lauryl sulfate induces a unique histopathologic inflammatory response in the xerotic skin of atopic dermatitis patients. Acta Derm. Venereol. 78, 244-247 (1998).
14. Seguchi, T. et al. Decreased expression of filaggrin in atopic skin. Arch. Dermatol. Res. 288, 442-446 (1996).
15. Jensen, J.M. et al. Impaired sphingomyelinase activity and epidermal differentiation in atopic dermatitis. J. Invest. Dermatol. 122, 1423-1431 (2004).
16. Sugiura, H. et al. 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, 146-149 (2005).
17. Cookson, W.O. et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat. Genet. 27, 372-373 (2001).
18. Wells, R.S. & Kerr, C.S. Clinical features of autosomal dominant and sex-linked ichthyosis in an English Population. Br. Med. J. 1, 947-950 (1966).
19. Kuokkanen, K. 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, 1-72 (1969).
20. Tay, Y.K., Khoo, B.P. & Goh, C.L. The epidemiology of atopic dermatitis at a tertiary referral skin center in Singapore. Asian Pac. J. Allergy Immunol. 17, 137-141 (1999).
21. Wang, L.F., Lin, J.Y., Hsieh, K.H. & Lin, R.H. Epicutaneous exposure of protein antigen induces a predominant Th2-like response with high IgE production in mice. J. Immunol. 156, 4077-4082 (1996).
22. Spergel, J.M. et al. Epicutaneous sensitization with protein antigen induces localized allergic dermatitis and hyperresponsiveness to methacholine after single exposure to aerosolized antigen in mice. J. Clin. Invest. 101, 1614-1622 (1998).
23. Ginger, R.S., Blachford, S., Rowland, J., Rowson, M. & Harding, C.R. Filaggrin repeat number polymorphism is associated with a dry skin phenotype. Arch. Dermatol. Res. 297, 235-241 (2005).
24. Kurz, T. et al. A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. Allergy 60, 192-199 (2005).
25. Wuthrich, B. & Schmid-Grendelmeier, P. The atopic eczema/dermatitis syndrome. Epidemiology, natural course, and immunology of the IgE-associated ("extrinsic") and the nonallergic ("intrinsic") AEDS. J. Investig. Allergol. Clin. Immunol. 13, 1-5 (2003).
26. Williams, H.C., Burney, P.G., Pembroke, A.C. & Hay, R.J. The U.K. Working Party's diagnostic criteria for atopic dermatitis. III. Independent hospital validation. Br. J. Dermatol. 131, 406-416 (1994).
27. Williams, H.C. et al. The U.K. Working Party's diagnostic criteria for atopic dermatitis. I. Derivation of a minimum set of discriminators for atopic dermatitis. Br. J. Dermatol. 131, 383-396 (1994).
28. Emerson, R.M., Charman, C.R. & Williams, H.C. The Nottingham eczema severity score: preliminary refinement of the Rajka and Langeland grading. Br. J. Dermatol. 142, 288-297 (2000).
29. Cecil, J.E. et al. The Pro12Ala and C-681G variants of the PPARG locus are associated with opposing growth phenotypes in young schoolchildren. Diabetologia 48, 1496-1502 (2005).
30. Brydensholt, H.L. et al. Development of atopic dermatitis during the first 3 years of life. The COPSAC cohort study in high-risk children. Arch. Dermatol. (in the press).