Filaggrin loss-of-function mutations are not associated with atopic dermatitis that develops in late childhood or adulthood

British Journal of Dermatology

Volumn 172, Issue 2, 2015, Pages 455-461

  Rupnik, H ^a,c   Rijavec, M ^b   Korosec P ^b  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b UNIVERSITY CLINIC OF RESPIRATORY AND ALLERGIC DISEASES   (Slovenia)

^c Dermatology Centre Arsderma   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; INTERMEDIATE FILAMENT PROTEIN;

ADULT; ADULTHOOD; ARTICLE; ASTHMA; ATOPIC DERMATITIS; CHILDHOOD; CONTROLLED STUDY; DISEASE DURATION; EARLY CHILDHOOD; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HOSPITALIZATION; HUMAN; INFANCY; IRRITANT DERMATITIS; LATE CHILDHOOD; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; ONSET AGE; PRIORITY JOURNAL; SKIN ALLERGY; ADOLESCENT; AGED; CASE CONTROL STUDY; CHILD; GENETICS; GENOTYPING TECHNIQUE; INFANT; MIDDLE AGED; MUTATION; NEWBORN; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DERMATITIS, ALLERGIC CONTACT; DERMATITIS, ATOPIC; DERMATITIS, IRRITANT; FEMALE; GENOTYPING TECHNIQUES; HUMANS; INFANT; INFANT, NEWBORN; INTERMEDIATE FILAMENT PROTEINS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84922763323     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13477     Document Type: Article

References (37)

1. Scharschmidt TC, Man MQ, Hatano Y, et al,. Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. J Allergy Clin Immunol 2009; 124: 496-506.
2. Irvine AD, McLean W, Leung DY,. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med 2011; 365: 1315-27.
3. Chen H, Common JE, Haines RL, et al,. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol 2008; 128: 1669-75.
4. Giardina E, Paolillo N, Sinibaldi C, Novelli G,. R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients. Dermatology 2008; 216: 83-4.
5. Palmer CN, Irvine AD, Terron-Kwiatkowski A, 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.
6. Barker JN, Palmer CN, Zhao Y, et al,. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 2007; 127: 564-7.
7. Ruether A, Stoll M, Schwarz T, et al,. Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany. Br J Dermatol 2006; 155: 1093-4.
8. Weidinger S, Illig T, Baurecht H, et al,. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006; 118: 214-19.
9. Ekelund E, Liedén A, Link J, et al,. Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families. Acta Derm Venereol 2008; 88: 15-19.
10. Greisenegger E, Novak N, Maintz L, et al,. Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. J Eur Acad Dermatol Venereol 2010; 24: 607-10.
11. Ponińska J, Samolińska B, Tomaszewska 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.
12. Schmitt J, Bauer A,. Meurer M [Atopic eczema in adulthood]. Hautarzt 2008; 59: 841-50 (in German).
13. Hanifin JM, Reed ML,. A population-based survey of eczema prevalence in the United States. Dermatitis 2007; 18: 82-91.
14. Schneider L, Tilles S, Lio P, et al,. Atopic dermatitis: a practice parameter update 2012. J Allergy Clin Immunol 2013; 131: 295-9.
15. Novak N, Baurecht H, Schäfer T, et al,. Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel. J Invest Dermatol 2008; 128: 1430-5.
16. Thyssen JP, Johansen J, Linneberg A, 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 Dermatol 2010; 162: 1278-85.
17. Carlsen BC, Thyssen JP, Menné T, et al,. Association between filaggrin null mutations and concomitant atopic dermatitis and contact allergy. Clin Exp Dermatol 2011; 36: 467-72.
18. Carlsen BC, Johansen JD, Menné T, et al,. Filaggrin null mutations and association with contact allergy and allergic contact dermatitis: results from a tertiary dermatology clinic. Contact Dermatitis 2010; 63: 89-95.
19. Lerbaek A, Bisgaard H, Agner T, et al,. Filaggrin null alleles are not associated with hand eczema or contact allergy. Br J Dermatol 2007; 157: 1199-204.
20. de Jongh CM, Khrenova L, Verberk MM, et al,. Loss-of-function polymorphisms in the filaggrin gene are associated with an increased susceptibility to chronic irritant contact dermatitis: a case-control study. Br J Dermatol 2008; 159: 621-7.
21. Landeck L, Visser M, Skudlik C, et al,. Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy. Br J Dermatol 2012; 167: 1302-9.
22. Visser MJ, Landeck L, Campbell LE, et al,. Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis. Br J Dermatol 2013; 168: 326-32.
23. Darsow U, Wollenberg A, Simon D, et al,. ETFAD/EADV eczema task force 2009 position paper on diagnosis and treatment of atopic dermatitis. J Eur Acad Dermatol Venereol 2010; 24: 317-28.
24. Sandilands A, Terron-Kwiatkowski A, Hull PR, 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.
25. Sergeant A, Campbell LE, Hull PR, et al,. Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol 2009; 129: 1042-5.
26. Purcell S, Cherny SS, Sham PC,. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149-50.
27. Sabolic Pipinic I, Varnai VM, Turk R, et al,. Low frequency of filaggrin null mutations in Croatia and their relation with allergic diseases. Int J Immunogenet 2013; 40: 192-8.
28. Gruber R, Janecke AR, Grabher D, et al,. Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important? Wien Klin Wochenschr 2010; 122: 551-7.
29. Baurecht H, Irvine AD, Novak N, et al,. Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol 2007; 120: 1406-12.
30. van den Oord RA, Sheikh A,. Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis. BMJ 2009; 339: b2433.
31. Rodríguez E, Baurecht H, Herberich E, et al,. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol 2009; 123: 1361-70.
32. Paternoster L, Standl M, Chen CM, et al,. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nat Genet 2011; 44: 187-92.
33. Esparza-Gordillo J, Schaarschmidt H, Liang L, et al,. A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis. J Allergy Clin Immunol 2013; 132: 371-7.
34. Carson CG, Rasmussen MA, Thyssen JP, et al,. 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.
35. Margolis DJ, Apter AJ, Gupta J, et al,. The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol 2012; 130: 912-17.
36. Thyssen JP, Carlsen B, Menné T, et al,. 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 2010; 163: 115-20.
37. Brown SJ, Relton CL, Liao H, et al,. 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 2009; 161: 884-9.