Filaggrin loss-of-function mutations are not a predisposing factor for atopic dermatitis in an Ishigaki Island under subtropical climate

Journal of Dermatological Science

Volumn 76, Issue 1, 2014, Pages 10-15

  Sasaki, Takashi ^a   Furusyo, Norihiro ^b   Shiohama, Aiko ^a   Takeuchi, Satoshi ^b   Nakahara, Takeshi ^b   Uchi, Hiroshi ^b   Hirota, Tomomitsu ^c   Tamari, Mayumi ^c   Shimizu, Nobuyoshi ^d   Ebihara, Tamotsu ^a   Amagai, Masayuki ^a   Furue, Masutaka ^b   Hayashi, Jun ^b   Kudoh, Jun ^a,d  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY HOSPITAL   (Japan)

^c INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

^d KEIO UNIVERSITY   (Japan)

Author keywords

Atopic dermatitis; Children cohort; FLG loss of function mutation; Ishigaki Island; Japanese

Indexed keywords

FILAGGRIN; IMMUNOGLOBULIN E; INTERMEDIATE FILAMENT PROTEIN;

ARTICLE; ATOPIC DERMATITIS; CHILD; CLIMATE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE PREDISPOSITION; ENVIRONMENTAL TEMPERATURE; FEMALE; HUMAN; HUMIDITY; IMMUNOGLOBULIN BLOOD LEVEL; JAPAN; JAPANESE (PEOPLE); LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; PREVALENCE; SUBTROPIC CLIMATE; BLOOD; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INFANT; INFLAMMATION; METABOLISM; MUTATION; PHYSIOLOGY; PRESCHOOL CHILD; RISK; SKIN; TROPIC CLIMATE;

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DERMATITIS, ATOPIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IMMUNOGLOBULIN E; INFANT; INFLAMMATION; INTERMEDIATE FILAMENT PROTEINS; JAPAN; MALE; MUTATION; ODDS RATIO; PREVALENCE; SKIN; TROPICAL CLIMATE;

EID: 84922405377     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2014.06.004     Document Type: Article

References (38)

1. Bieber T. Atopic dermatitis. N Engl J Med 2008, 358:1483-1494.
2. Schultz Larsen F. Atopic dermatitis: a genetic-epidemiologic study in a population-based twin sample. J Am Acad Dermatol 1993, 28:719-723.
3. Thomsen S.F., Ulrik C.S., Kyvik K.O., Hjelmborg J., Skadhauge L.R., Steffensen I., et al. Importance of genetic factors in the etiology of atopic dermatitis: a twin study. Allergy Asthma Proc 2007, 28:535-539.
4. Bisgaard H., Li N., Bonnelykke K., Chawes B.L., Skov T., Paludan-Muller G., et al. Reduced diversity of the intestinal microbiota during infancy is associated with increased risk of allergic disease at school age. J Allergy Clin Immunol 2011, 128. 646-52 e1-5.
5. Kong H.H., Oh J., Deming C., Conlan S., Grice E.A., Beatson M.A., et al. Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis. Genome Res 2012, 22:850-859.
6. Kim J., Kim E.H., Oh I., Jung K., Han Y., Cheong H.K., et al. Symptoms of atopic dermatitis are influenced by outdoor air pollution. J Allergy Clin Immunol 2013, 132. 495-8 e1.
7. Bisgaard H., Simpson A., Palmer C.N., Bonnelykke K., McLean I., Mukhopadhyay S., et al. Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. PLoS Med 2008, 5:e131.
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 2006, 38:337-342.
9. 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 2006, 38:441-446.
10. Sandilands A., O'Regan G.M., Liao H., Zhao Y., Terron-Kwiatkowski A., Watson R.M., et al. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 2006, 126:1770-1775.
11. Sandilands A., Terron-Kwiatkowski A., Hull P.R., O'Regan G.M., Clayton T.H., Watson R.M., et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007, 39:650-654.
12. Irvine A.D., McLean W.H. Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol 2006, 126:1200-1202.
13. Brown S.J., Relton C.L., Liao H., Zhao Y., Sandilands A., McLean W.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, 161:884-889.
14. Henderson J., Northstone K., Lee S.P., Liao H., Zhao Y., Pet 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.
15. Weidinger S., O'Sullivan M., Illig T., Baurecht H., Depner M., Rodriguez E., et al. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol 2008, 121. 1203-09 e1.
16. Cramer C., Link E., Horster M., Koletzko S., Bauer C.P., Berdel D., et al. Elder siblings enhance the effect of filaggrin mutations on childhood eczema: results from the 2 birth cohort studies LISAplus and GINIplus. J Allergy Clin Immunol 2010, 125. 1254-60 e5.
17. Schuttelaar M.L., Kerkhof M., Jonkman M.F., Koppelman G.H., Brunekreef B., de Jongste J.C., et al. Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure. Allergy 2009, 64:1758-1765.
18. Bonnelykke K., Pipper C.B., Tavendale R., Palmer C.N., Bisgaard H. Filaggrin gene variants and atopic diseases in early childhood assessed longitudinally from birth. Pediatr Allergy Immunol 2010, 21:954-961.
19. Kawasaki H., Nagao K., Kubo A., Hata T., Shimizu A., Mizuno H., et al. Altered stratum corneum barrier and enhanced percutaneous immune responses in filaggrin-null mice. J Allergy Clin Immunol 2012, 129. 1538-46 e6.
20. Sandilands A., Sutherland C., Irvine A.D., McLean W.H. Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci 2009, 122:1285-1294.
21. Uenishi T., Sugiura H., Uehara M. Changes in the seasonal dependence of atopic dermatitis in Japan. J Dermatol 2001, 28:244-247.
22. Annus T., Riikjarv M.A., Rahu K., Bjorksten B. Modest increase in seasonal allergic rhinitis and eczema over 8 years among Estonian school children. Pediatr Allergy Immunol 2005, 16:315-320.
23. Levi K., Weber R.J., Do J.Q., Dauskardt R.H. Drying stress and damage processes in human stratum corneum. Int J Cosmet Sci 2010, 32:276-293.
24. Nomura T., Sandilands A., Akiyama M., Liao H., Evans A.T., Sakai K., et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007, 119:434-440.
25. Hamada T., Sandilands A., Fukuda S., Sakaguchi S., Ohyama B., Yasumoto S., et al. De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol 2008, 128:1323-1325.
26. Nomura T., Akiyama M., Sandilands A., Nemoto-Hasebe I., Sakai K., Nagasaki A., et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008, 128:1436-1441.
27. Sasaki T., Kudoh J., Ebihara T., Shiohama A., Asakawa S., Shimizu A., et al. Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis. J Dermatol Sci 2008, 51:113-120.
28. Nomura T., Akiyama M., Sandilands A., Nemoto-Hasebe I., Sakai K., Nagasaki A., et al. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol 2009, 129:1302-1305.
29. Nemoto-Hasebe I., Akiyama M., Nomura T., Sandilands A., McLean W.H., Shimizu H. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol 2009, 161:1387-1390.
30. Enomoto H., Hirata K., Otsuka K., Kawai T., Takahashi T., Hirota T., et al. Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. J Hum Genet 2008, 53:615-621.
31. Hayashida S., Furusho N., Uchi H., Miyazaki S., Eiraku K., Gondo C., et al. Are lifetime prevalence of impetigo, molluscum and herpes infection really increased in children having atopic dermatitis?. J Dermatol Sci 2010, 60:173-178.
32. Hamada M., Furusyo N., Urabe K., Morita K., Nakahara T., Kinukawa N., et al. Prevalence of atopic dermatitis and serum IgE values in nursery school children in Ishigaki Island, Okinawa. Jpn J Dermatol 2005, 32:248-255.
33. Fukiwake N., Furusyo N., Kubo N., Takeoka H., Toyoda K., Morita K., et al. Incidence of atopic dermatitis in nursery school children - a follow-up study from 2001 to 2004, Kyushu University Ishigaki Atopic Dermatitis Study (KIDS). Eur J Dermatol 2006, 16:416-419.
34. Fukiwake N., Furusyo N., Takeoka H., Toyoda K., Kubo N., Kido M., et al. Association factors for atopic dermatitis in nursery school children in Ishigaki islands - Kyushu University Ishigaki Atopic Dermatitis Study (KIDS). Eur J Dermatol 2008, 18:571-574.
35. Furusyo N., Takeoka H., Toyoda K., Murata M., Maeda S., Ohnishi H., et al. Thymus and activation regulated chemokines in children with atopic dermatitis: Kyushu University Ishigaki Atopic Dermatitis Study (KIDS). Eur J Dermatol 2007, 17:397-404.
36. Saeki H., Iizuka H., Mori Y., Akasaka T., Takagi H., Kitajima Y., et al. Prevalence of atopic dermatitis in Japanese elementary schoolchildren. Br J Dermatol 2005, 152:110-114.
37. Hayama H., Mori T. Evaluation of room temperature and humidity distribution of a house in Hokkaido area. Arch Inst Jpn Res Rep Hokkaido Branch 2000, 73:191-194.
38. Yamaguchi-Kabata Y., Nakazono K., Takahashi A., Saito S., Hosono N., Kubo M., et al. Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet 2008, 83:445-456.