Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march

Journal of Allergy and Clinical Immunology

Volumn 118, Issue 4, 2006, Pages 866-871

  Marenholz, Ingo ^a,d   Nickel, Renate ^a   Rüschendorf, Franz ^d   Schulz, Florian ^a,d   Esparza Gordillo, Jorge ^a,d   Kerscher, Tamara ^a,d   Grüber, Christoph ^a   Lau, Susanne ^a   Worm, Margitta ^b   Keil, Thomas ^c   Kurek, Michael ^e   Zaluga, Elisabetha ^e   Wahn, Ulrich ^a   Lee, Young Ae ^a  

^a Pediatric Pneumology and Immunology   (Germany)

^b Department of Dermatology and Allergy ^*

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^e POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

allergic rhinitis; asthma; atopic march; atopy; Eczema; filaggrin; genetic association; skin barrier

Indexed keywords

FILAGGRIN; IMMUNOGLOBULIN E;

ALLERGIC RHINITIS; ARTICLE; ASTHMA; ATOPY; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ECZEMA; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; NULL ALLELE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RISK ASSESSMENT;

ASTHMA; CHILD; ECZEMA; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPERSENSITIVITY, IMMEDIATE; INTERMEDIATE FILAMENT PROTEINS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RISK FACTORS;

EID: 33749315429     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2006.07.026     Document Type: Article

References (27)

1. Worldwide variation in prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and atopic eczema: ISAAC. The International Study of Asthma and Allergies in Childhood (ISAAC) Steering Committee. Lancet 351 (1998) 1225-1232
2. Spergel J.M., and Paller A.S. Atopic dermatitis and the atopic march. J Allergy Clin Immunol 112 (2003) S118-S127
3. Zutavern A., Hirsch T., Leupold W., Weiland S., Keil U., and von Mutius E. Atopic dermatitis, extrinsic atopic dermatitis and the hygiene hypothesis: results from a cross-sectional study. Clin Exp Allergy 35 (2005) 1301-1308
4. Hoffjan S., Nicolae D., and Ober C. Association studies for asthma and atopic diseases: a comprehensive review of the literature. Respir Res 4 (2003) 14
5. Palmer C.N., Irvine A.D., Terron-Kwiatkowski A., Zhao Y., Liao H., Lee S.P., et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38 (2006) 441-446
6. Leung D.Y., Boguniewicz M., Howell M.D., Nomura I., and Hamid Q.A. New insights into atopic dermatitis. J Clin Invest 113 (2004) 651-657
7. Candi E., Schmidt R., and Melino G. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 6 (2005) 328-340
8. Smith F.J., Irvine A.D., Terron-Kwiatkowski A., Sandilands A., Campbell L.E., Zhao Y., et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38 (2006) 337-342
9. Tay Y.K., Khoo B.P., and Goh C.L. The profile of atopic dermatitis in a tertiary dermatology outpatient clinic in Singapore. Int J Dermatol 38 (1999) 689-692
10. Sugiura H., Ebise H., Tazawa T., Tanaka K., Sugiura Y., Uehara M., 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 (2005) 146-149
11. Ginger R.S., Blachford S., Rowland J., Rowson M., and Harding C.R. Filaggrin repeat number polymorphism is associated with a dry skin phenotype. Arch Dermatol Res 297 (2005) 235-241
12. Mischke D., Korge B.P., Marenholz I., Volz A., and Ziegler A. Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 106 (1996) 989-992
13. Cookson W.O., Ubhi B., Lawrence R., Abecasis G.R., Walley A.J., Cox H.E., et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 27 (2001) 372-373
14. Lee Y.A., Wahn U., Kehrt R., Tarani L., Businco L., Gustafsson D., et al. A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 26 (2000) 470-473
15. Hanifin J.M., and Rajka G. Diagnostic features of atopic dermatitis. Acta Derm Venereol (Stockholm) 92 suppl (1980) 44-47
16. Leung D.Y., Hanifin J.M., Charlesworth E.N., Li J.T., Bernstein I.L., Berger W.E., et al. Disease management of atopic dermatitis: a practice parameter. Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma and Immunology, the American College of Allergy, Asthma and Immunology, and the Joint Council of Allergy, Asthma and Immunology. Work Group on Atopic Dermatitis. Ann Allergy Asthma Immunol 79 (1997) 197-211
17. Kunz B., Oranje A.P., Labreze L., Stalder J.F., Ring J., and Taieb A. Clinical validation and guidelines for the SCORAD index: consensus report of the European Task Force on Atopic Dermatitis. Dermatology 195 (1997) 10-19
18. Bergmann R.L., Bergmann K.E., Lau-Schadensdorf S., Luck W., Dannemann A., Bauer C.P., et al. Atopic diseases in infancy. The German Multicenter Atopy Study (MAS-90). Pediatr Allergy Immunol 5 (1994) 19-25
19. Lau S., Illi S., Sommerfeld C., Niggemann B., Bergmann R., von Mutius E., et al. Early exposure to house-dust mite and cat allergens and development of childhood asthma: a cohort study. Multicentre Allergy Study Group. Lancet 356 (2000) 1392-1397
20. Illi S., von Mutius E., Lau S., Nickel R., Gruber C., Niggemann B., et al. The natural course of atopic dermatitis from birth to age 7 years and the association with asthma. J Allergy Clin Immunol 113 (2004) 925-931
21. Nickel R., Lau S., Niggemann B., Sommerfeld C., and Wahn U. Comparison of bronchial responsiveness to histamine in asthma, allergic rhinitis and allergic sensitization at the age of 7 years. Clin Exp Allergy 32 (2002) 1274-1277
22. Spielman R.S., and Ewens W.J. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59 (1996) 983-989
23. Hinds DA, Risch N. The ASPEX package: affected sib-pair exclusion mapping. 1996. Available at: http://aspex.sourceforge.net/.
24. Hennekens C.H., and Buring J.E. Measures of disease frequency in association. In: Mayrent S.L. (Ed). Epidemiology in medicine (2006), Little Brown, Toronto 54-98
25. Weidinger S., Illig T., Baurecht H., Irvine A.D., Rodriguez E., Diaz-Lacava A., et al. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 118 (2006) 214-219
26. Spergel J.M., Mizoguchi E., Brewer J.P., Martin T.R., Bhan A.K., and Geha R.S. 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 (1998) 1614-1622
27. Koch P.J., de Viragh P.A., Scharer E., Bundman D., Longley M.A., Bickenbach J., et al. Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol 151 (2000) 389-400