Clinical Presentation of Atopic Dermatitis by Filaggrin Gene Mutation Status during the First 7 Years of Life in a Prospective Cohort Study

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Carson, Charlotte Giwercman ^a   Rasmussen, Morten Arendt ^b   Thyssen, Jacob P ^c   Menné, Torkil ^c   Bisgaard, Hans ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN;

ARTICLE; ATOPIC DERMATITIS; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISCRIMINANT ANALYSIS; DISEASE COURSE; DISEASE EXACERBATION; DISEASE SEVERITY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MORPHOLOGY; PHENOTYPE; PRACTICE GUIDELINE; PRESCHOOL CHILD; PROSPECTIVE STUDY; SCHOOL CHILD; UPREGULATION;

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DENMARK; DERMATITIS, ATOPIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HUMANS; INFANT; INTERMEDIATE FILAMENT PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; RISK ASSESSMENT; STATISTICS, NONPARAMETRIC;

EID: 84869212923     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0048678     Document Type: Article

References (30)

1. Irvine AD, (2007) Fleshing out filaggrin phenotypes. J Invest Dermatol 127: 504-507.
2. Candi E, Schmidt R, Melino G, (2005) The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 6: 328-340.
3. Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, et al. (2011) Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol 178: 2252-2263.
4. Sergeant A, Campbell LE, Hull PR, Porter M, Palmer CN, et al. (2009) Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol 129: 1042-1045.
5. Thyssen JP, Ross-Hansen K, Johansen JD, Zachariae C, Carlsen BC, et al. (2012) Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study. Br J Dermatol 166: 46-53.
6. O'Regan GM, Kemperman PM, Sandilands A, Chen H, Campbell LE, et al. (2010) Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol 126: 574-580.
7. Kezic S, O'Regan GM, Yau N, Sandilands A, Chen H, et al. (2011) Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity. Allergy.
8. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, et al. (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38: 441-446.
9. Marenholz I, Nickel R, Ruschendorf F, Schulz F, Esparza-Gordillo J, et al. (2006) Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J Allergy Clin Immunol 118: 866-871.
10. Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, et al. (2006) Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 118: 214-219.
11. 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: 1225-1232.
12. Barker JN, Palmer CN, Zhao Y, Liao H, Hull PR, et al. (2007) Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 127: 564-567.
13. Brown SJ, Sandilands A, Zhao Y, Liao H, Relton CL, et al. (2007) Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema. J Invest Dermatol.
14. Bonnelykke K, Pipper CB, Tavendale R, Palmer CN, Bisgaard H, (2010) Filaggrin gene variants and atopic diseases in early childhood assessed longitudinally from birth. Pediatr Allergy Immunol 21: 954-961.
15. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, et al. (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38: 337-342.
16. Thyssen JP, Carlsen BC, Bisgaard H, Giwercman C, Johansen JD, et al. (2012) Individuals who are homozygous for the 2282del4 and R501X filaggrin null mutations do not always develop dermatitis and complete long-term remission is possible. J Eur Acad Dermatol Venereol 26: 386-389. 10.1111/j.1468-3083.2011.04073.x [doi].
17. Bisgaard H, Hermansen MN, Buchvald F, Loland L, Halkjaer LB, et al. (2007) Childhood asthma after bacterial colonization of the airway in neonates. N Engl J Med 357: 1487-1495.
18. Bisgaard H, (2004) 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.
19. Bisgaard H, Hermansen MN, Loland L, Halkjaer LB, Buchvald F, (2006) Intermittent inhaled corticosteroids in infants with episodic wheezing. N Engl J Med 354: 1998-2005.
20. Hanifin JM, Rajka G, (1980) Diagnostic features of atopic dermatitis. Acta Derm Venereol 92: 44-47.
21. Severity scoring of atopic dermatitis: the SCORAD index. Consensus Report of the European Task Force on Atopic Dermatitis. Dermatology 186: 23-31.
22. Barker M, Rayens W, (2003) Partial least squares for discrimination. J Chemometrics 17 166-173: 10.1002/cem.785.
23. Kaiser Henry F, (1958) The varimax criterion for analytic rotation in factor analysis. Psychometrica 23: 187-200.
24. Williams HC, Burney PG, Strachan D, Hay RJ, (1994) The U.K. Working Party's Diagnostic Criteria for Atopic Dermatitis. II. Observer variation of clinical diagnosis and signs of atopic dermatitis. Br J Dermatol 131: 397-405.
25. Pugliarello S, Cozzi A, Gisondi P, Girolomoni G, (2011) Phenotypes of atopic dermatitis. J Dtsch Dermatol Ges 9: 12-20.
26. Fahy CMR, McLean WHI, Irvine AD (2011) Variation in the development of phenotype in filaggrin-deficiency: a murine model of atopic dermatitis. Poster at British Association of Dematologists annual meeting.
27. Thyssen JP, Carlsen BC, Menne T, Linneberg A, Nielsen NH, et al. (2010) Filaggrin null mutations increase the risk and persistence of hand eczema in subjects with atopic dermatitis: results from a general population study. Br J Dermatol 163: 115-120.
28. Thyssen JP, Carlsen BC, Johansen JD, Meldgaard M, Szecsi PB, et al. (2010) Filaggrin null-mutations may be associated with a distinct subtype of atopic hand eczema. Acta Derm Venereol 90: 528.
29. Simpson EL, Thompson MM, Hanifin JM, (2006) Prevalence and morphology of hand eczema in patients with atopic dermatitis. Dermatitis 17: 123-127.
30. Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, et al. (2009) Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol 161: 884-889.