Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

Journal of Investigative Dermatology

Volumn 130, Issue 12, 2010, Pages 2834-2836

  Osawa, Rinko ^a   Konno, Satoshi ^a   Akiyama, Masashi ^a   Nemoto Hasebe, Ikue ^a   Nomura, Toshifumi ^a,b   Nomura, Yukiko ^a   Abe, Riichiro ^a   Sandilands, Aileen ^b   McLean, W H Irwin ^b   Hizawa, Nobuyuki ^c,d   Nishimura, Masaharu ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c UNIVERSITY OF TSUKUBA   (Japan)

^d UNIVERSITY OF TSUKUBA HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN;

ADULT; ASTHMA; ATOPIC DERMATITIS; CONTROLLED STUDY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; JAPANESE; LETTER; MAJOR CLINICAL STUDY; NULL ALLELE; PRIORITY JOURNAL;

EID: 78149468413     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.218     Document Type: Letter

References (10)

1. Fallon PG, Sasaki T, Sandilands A et al. (2009) A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 41: 602-8
2. Hanifin JM, Rajka G (1980) Diagnostic features of atopic dermatitis. Acta Derm Venereol 92:44-7
3. Henderson J, Northstone K, Lee SP et al. (2008) The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 121:872-7
4. Isada A, Konno S, Hizawa N et al. (2010) A functional polymorphism (-603A\4 G) in the tissue factor gene promoter is associated with adult-onset asthma. J Hum Genet 55: 167-74
5. Nemoto-Hasebe I, Akiyama M, Nomura T et al. (2010) FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese atopic eczema patients. Br J Dermatol 161:1387-90
6. Nomura T, Akiyama M, Sandilands A et al. (2008) Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 128:1436-41
7. Nomura T, Sandilands A, Akiyama M et al. (2007) Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 119:434-40
8. Rodŕiguez E, Baurecht H, Herberich E et al. (2009) Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol 123:1361-70
9. Sandilands A, Terron-Kwiatkowski A, Hull PR et al. (2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 39:650-4
10. van den Oord RA, Sheikh A (2010) Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis. BMJ 339:b2433