Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 1, 2013, Pages

  Asai, Yuka ^a   Greenwood, Celia ^a,b   Hull, Peter R ^c   Alizadehfar, Reza ^a   Ben Shoshan, Moshe ^a   Brown, Sara J ^d   Campbell, Linda ^d   Michel, Deborah L ^c   Bussières, Johanne ^e   Rousseau, François ^e   Fujiwara, T Mary ^a   Morgan, Kenneth ^a,f   Irvine, Alan D ^g   Irwin McLean, W H ^d   Clarke, Ann ^a,f  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF SASKATCHEWAN   (Canada)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e UNIVERSITÉ LAVAL   (Canada)

^f MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^g TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN;

ALLERGIC ASTHMA; ALLERGIC RHINITIS; ASTHMATIC STATE; ATOPIC DERMATITIS; CROSS ALLERGY; ECZEMA; ETHNICITY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFLAMMATION; LETTER; LOSS OF FUNCTION MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; PATHOGENESIS; PEANUT ALLERGY; PRIORITY JOURNAL; QUESTIONNAIRE; SELF REPORT; SENSITIVITY ANALYSIS; SENSITIZATION; SMOKING;

EID: 84882834576     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.03.043     Document Type: Article

References (40)

1. Brown SJ, Asai Y, Cordell HJ, Campbell LE, Zhao Y, Liao H, et al. Loss-of-func-tion variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol 2011;127:661-7.
2. Irvine AD, McLean WH, Leung DY. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med 2011;365:1315-27.
3. Sicherer SH, Furlong TJ, Maes HH, Desnick RJ, Sampson HA, Gelb BD. Genetics of peanut allergy: a twin study. J Allergy Clin Immunol 2000;106:53-6.
4. Liu AH, Jaramillo R, Sicherer SH, Wood RA, Bock SA, Burks AW, et al. National prevalence and risk factors for food allergy and relationship to asthma: results from the National Health and Nutrition Examination Survey 2005-2006. J Allergy Clin Immunol 2010;126:798-806.e13.
5. Palmer CN, Ismail T, Lee SP, Terron-Kwiatkowski A, Zhao Y, Liao H, et al. Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol 2007;120:64-8.
6. Girouard J, Giguere Y, Delage R, Rousseau F. Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients. Hum Mol Genet 2002;11:185-9.
7. Berg ND, Husemoen LL, Thuesen BH, Hersoug LG, Elberling J, Thyssen JP, et al. Interaction between filaggrin null mutations and tobacco smoking in relation to asthma. J Allergy Clin Immunol 2012;129:374-80, e1-2.
8. Skolnick HS, Conover-Walker MK, Koerner CB, Sampson HA, Burks W, Wood RA. The natural history of peanut allergy. J Allergy Clin Immunol 2001;107: 367-74.
9. Ben-Shoshan M, Harrington DW, Soller L, Fragapane J, Joseph L, St Pierre Y, et al. A population-based study on peanut, tree nut, fish, shellfish, and sesame allergy prevalence in Canada. J Allergy Clin Immunol 2010;125:1327-35.
10. Strid J, Hourihane J, Kimber I, Callard R, Strobel S. Epicutaneous exposure to peanut protein prevents oral tolerance and enhances allergic sensitization. Clin Exp Allergy 2005;35:757-66.
11. Fox AT, Sasieni P, du Toit G, Syed H, Lack G. Household peanut consumption as a risk factor for the development of peanut allergy. J Allergy Clin Immunol 2009; 123:417-23.
12. Niggemann B, Schmitz R, Schlaud M. The high prevalence of peanut sensitization in childhood is due to cross-reactivity to pollen. Allergy 2011;66:980-1.
13. Peeters KA, Koppelman SJ, van Hoffen E, van der Tas CW, den Hartog Jager CF, Penninks AH, et al. Does skin prick test reactivity to purified allergens correlate with clinical severity of peanut allergy? Clin Exp Allergy 2007;37:108-15.
14. Wainstein BK, Studdert J, Ziegler M, Ziegler JB. Prediction of anaphylaxis during peanut food challenge: usefulness of the peanut skin prick test (SPT) and specific IgE level. Pediatr Allergy Immunol 2010;21:603-11.
15. Wainstein BK, Kashef S, Ziegler M, Jelley D, Ziegler JB. Frequency and significance of immediate contact reactions to peanut in peanut-sensitive children. Clin Exp Allergy 2007;37:839-45.
16. Eigenmann PA, Calza AM. Diagnosis of IgE-mediated food allergy among Swiss children with atopic dermatitis. Pediatr Allergy Immunol 2000;11:95-100.
17. Chapman JA, Bernstein IL, Lee RE, Oppenheimer J, Nicklas RA, Portnoy JM, et al. Food allergy: a practice parameter. Ann Allergy Asthma Immunol 2006;96:S1-68.
18. Roberts G, Lack G. Diagnosing peanut allergy with skin prick and specific IgE testing. J Allergy Clin Immunol 2005;115:1291-6.
19. Sampson HA. Utility of food-specific IgE concentrations in predicting symptomatic food allergy. J Allergy Clin Immunol 2001;107:891-6.
20. van Nieuwaal NH, Lasfar W, Meijer Y, Kentie PA, Flinterman AE, Pasmans SG, et al. Utility of peanut-specific IgE levels in predicting the outcome of double-blind, placebo-controlled food challenges. J Allergy Clin Immunol 2010;125: 1391-2.
21. Rance F, Abbal M, Lauwers-Cances V. Improved screening for peanut allergy by the combined use of skin prick tests and specific IgE assays. J Allergy Clin Immunol 2002;109:1027-33.
22. Kagan R, Hayami D, Joseph L, St Pierre Y, Clarke AE. The predictive value of a positive prick skin test to peanut in atopic, peanut-naive children. Ann Allergy Asthma Immunol 2003;90:640-5.
23. Sporik R, Hill DJ, Hosking CS. Specificity of allergen skin testing in predicting positive open food challenges to milk, egg and peanut in children. Clin Exp Allergy 2000;30:1540-6.
24. Clark AT, Ewan PW. Interpretation of tests for nut allergy in one thousand patients, in relation to allergy or tolerance. Clin Exp Allergy 2003;33:1041-5.
25. Wainstein BK, Yee A, Jelley D, Ziegler M, Ziegler JB. Combining skin prick, immediate skin application and specific-IgE testing in the diagnosis of peanut allergy in children. Pediatr Allergy Immunol 2007;18:231-9.
26. Sampson HA, Munoz-Furlong A, Campbell RL, Adkinson NF Jr, Bock SA, Bra-num A, et al. Second symposium on the definition and management of anaphy-laxis: summary report-second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network symposium. Ann Emerg Med 2006;47:373-80.
27. Johannsen H, Nolan R, Pascoe EM, Cuthbert P, Noble V, Corderoy T, et al. Skin prick testing and peanut-specific IgE can predict peanut challenge outcomes in preschool children with peanut sensitization. Clin Exp Allergy 2011;41: 994-1000.
28. Seidenari S, Giusti F, Bertoni L, Mantovani L. Combined skin prick and patch testing enhances identification of peanut-allergic patients with atopic dermatitis. Allergy 2003;58:495-9.
29. Hill DJ, Hosking CS, Reyes-Benito LV. Reducing the need for food allergen challenges in young children: a comparison of in vitro with in vivo tests. Clin Exp Allergy 2001;31:1031-5.
30. Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, McLean WH, et al. Filag-grin 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 2009;161:884-9.
31. Henderson J, Northstone K, Lee SP, Liao H, Zhao Y, Pembrey M, et al. The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 2008;121:872-7.e9.
32. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007;39:650-4.
33. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006;38:441-6.
34. Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, et al. Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol 2008;122:560-8.e4.
35. Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet 2007;15:179-84.
36. Thyssen JP, Johansen JD, Linneberg A, Menne T, Nielsen NH, Meldgaard M, et al. The association between null mutations in the filaggrin gene and contact sensitization to nickel and other chemicals in the general population. Br J Derma-tol 2010;162:1278-85.
37. Carson CG, Rasmussen MA, Thyssen JP, Menne T, Bisgaard H. Clinical presentation of atopic dermatitis by filaggrin gene mutation status during the first 7 years of life in a prospective cohort study. PLoS One 2012;7:e48678.
38. Hubiche T, Ged C, Benard A, Leaute-Labreze C, McElreavey K, de Verneuil H, et al. Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. Acta Derm Venereol 2007;87:499-505.
39. Mlitz V, Latreille J, Gardinier S, Jdid R, Drouault Y, Hufnagl P, et al. Impact of filaggrin mutations on Raman spectra and biophysical properties of the stratum corneum in mild to moderate atopic dermatitis. J Eur Acad Dermatol Venereol 2012;26:983-90.
40. Poninska J, Samolinski B, Tomaszewska A, Raciborski F, Samel-Kowalik P, Walkie-wicz A, et al. Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort. PLoS One 2011;6:e16933.