Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients

International Journal of Immunogenetics

Volumn 36, Issue 4, 2009, Pages 217-222

  Stemmler, S ^a   Nothnagel, M ^b   Parwez, Q ^c   Petrasch Parwez, E ^a   Epplen, J T ^a   Hoffjan, S ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c Private Medical Practice ^*  (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATOPIC DERMATITIS; CELL DIFFERENTIATION; CHILD; CHROMOSOME 1Q; EPIDERMAL DIFFERENTIATION COMPLEX; EPIDERMIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; CASE-CONTROL STUDIES; CELL DIFFERENTIATION; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; DERMATITIS, ATOPIC; EPIDERMIS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERMANY; HAPLOTYPES; HUMANS; INFANT; INTERMEDIATE FILAMENT PROTEINS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 67650721036     PISSN: 17443121     EISSN: 1744313X     Source Type: Journal    
DOI: 10.1111/j.1744-313X.2009.00858.x     Document Type: Article

References (28)

1. Barker, J.N., Palmer, C.N., Zhao, Y., Liao, H., Hull, P.R., Lee, S.P. et al 2006) Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. Journal of Investigative Dermatology, 127, 564.
2. Barrett, J.C., Fry, B., Maller, J. Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263.
3. Baurecht, H., Irvine, A.D., Novak, N., Illig, T., Buhler, B., Ring, J. et al 2007) Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. The Journal of Allergy and Clinical Immunology, 120, 1406.
4. Becker, T. Knapp, M. (2004) Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genetic Epidemiology, 27, 21.
5. Bisgaard, H., Simpson, A., Palmer, C.N., Bonnelykke, K., McLean, I., Mukhopadhyay, S. et al 2008) Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. PLoS Medicine, 5, e131.
6. Brown, S.J., Relton, C.L., Liao, H., Zhao, Y., Sandilands, A., Wilson, I.J. et al 2008) Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. The Journal of Allergy and Clinical Immunology, 121, 940.
7. Cookson, W.O., Ubhi, B., Lawrence, R., Abecasis, G.R., Walley, A.J., Cox, H.E. et al 2001) Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nature Genetics, 27, 372.
8. Ekelund, E., Lieden, A., Link, J., Lee, S.P., D'Amato, M., Palmer, C.N. et al 2008) Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families. Acta Dermato-Venereologica, 88, 15.
9. Enomoto, H., Hirata, K., Otsuka, K., Kawai, T., Takahashi, T., Hirota, T. et al 2008) Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. Journal of Human Genetics, 53, 615.
10. Glaser, R., Meyer-Hoffert, U., Harder, J., Cordes, J., Wittersheim, M., Kobliakova, J. et al 2008) The antimicrobial protein psoriasin (S100A7) is upregulated in atopic dermatitis and after experimental skin barrier disruption. Journal of Investigative Dermatology, 129, 641.
11. Hanifin, J.M. Rajka, G. (1980) Diagnostic features of atopic dermatitis. Acta Dermato-Venereology, 92, 44.
12. Henderson, J., Northstone, K., Lee, S.P., Liao, H., Zhao, Y., Pembrey, M. et al 2008) The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. The Journal of Allergy and Clinical Immunology, 121, 872.
13. Macaluso, F., Nothnagel, M., Parwez, Q., Petrasch-Parwez, E., Bechara, F.G., Epplen, J.T. et al 2007) Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. Experimental Dermatology, 16, 692.
14. Merryman-Simpson, A.E., Wood, S.H., Fretwell, N., Jones, P.G., McLaren, W.M., McEwan, N.A. et al 2008) Gene (mRNA) expression in canine atopic dermatitis: microarray analysis. Veterinary Dermatology, 19, 59.
15. Miller, S.A., Dykes, D.D. Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
16. Mischke, D., Korge, B.P., Marenholz, I., Volz, A. Ziegler, A. (1996) Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ('epidermal differentiation complex') on human chromosome 1q21. Journal of Investigative Dermatology, 106, 989.
17. Morar, N., Cookson, W.O., Harper, J.I. Moffatt, M.F. (2007) Filaggrin mutations in children with severe atopic dermatitis. Journal of Investigative Dermatology, 127, 1667.
18. Nomura, T., Sandilands, A., Akiyama, M., Liao, H., Evans, A.T., Sakai, K. et al 2007) Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. The Journal of Allergy and Clinical Immunology, 119, 434.
19. Palmer, C.N., Irvine, A.D., Terron-Kwiatkowski, A., Zhao, Y., Liao, H., Lee, S.P. et al 2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nature Genetics, 38, 441.
20. R-Development-Core-Team (2008) R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria.
21. Stemmler, S., Parwez, Q., Petrasch-Parwez, E., Epplen, J.T. Hoffjan, S. (2006) Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis. Journal of Investigative Dermatology, 127, 722.
22. Sugiura, H., Ebise, H., Tazawa, T., Tanaka, K., Sugiura, Y., Uehara, M. et al 2005) Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope. The British Journal of Dermatology, 152, 146.
23. Sun, C., Mathur, P., Dupuis, J., Tizard, R., Ticho, B., Crowell, T. et al 2006) Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21. Human Genetics, 119, 113.
24. The International HapMap Consortium 2003) The International HapMap Project. Nature, 426, 789.
25. Weidinger, S., Illig, T., Baurecht, H., Irvine, A.D., Rodriguez, E., Diaz-Lacava, A. et al 2006) Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. The Journal of Allergy and Clinical Immunology, 118, 214.
26. Weidinger, S., O'Sullivan, M., Illig, T., Baurecht, H., Depner, M., Rodriguez, E. et al 2008) Filaggrin mutations, atopic eczema, hay fever, and asthma in children. The Journal of Allergy and Clinical Immunology, 121, 1203.
27. Wigginton, J.E., Cutler, D.J. Abecasis, G.R. (2005) A note on exact tests of Hardy-Weinberg equilibrium. The American Journal of Human Genetics, 76, 887.
28. Wuthrich, B., Cozzio, A., Roll, A., Senti, G., Kundig, T. Schmid-Grendelmeier, P. (2007) Atopic eczema: genetics or environment? Annals of Agricultural and Environmental Medicine, 14, 195.