Role of genetic aspect in pathogenesis of atopic dermatitis
DOI:
https://doi.org/10.2478/fobio-2013-0005Keywords:
allergic disease, SNPs, eczema, cornified envelope, interleukinsAbstract
The pathogenesis of atopic dermatitis (AD) is a very complicated process that involves an intricate array of molecules. Nowadays it is generally accepted that cytokines play an important role in the progression of the clinical presentation of atopic dermatitis. However, emerging data point to the possible involvement of cornified envelope proteins in the development of skin barrier dysfunction and illness. Unfortunately, our knowledge on relation of particular genotype to progression of AD is very limited. Therefore, intensive studies are needed to increase our understanding of genetic background of atopic dermatitis. Hopefully the future research will identify new factors that help us to determine the additional risk for certain patients with atopic dermatitis.
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References
Bieber, T. 2008. Atopic dermatitis. The New England Journal of Medicine, 358: 1483–1484.
Google Scholar
Boguniewicz, M. & Leung, D.Y. 2011. Atopic dermatitis: a disease of altered skin barrier and immune dysregulation. Immunological Reviews, 242: 233–246.
Google Scholar
Cabral, A., Voskamp, P., Cleton-Jansen, A., South, A., Nizetic, D. & Backendorf C. 2001. Structural organization and regulation of the small prolinerich family of cornified envelope precursors suggest a role in adaptive barrier function. The Journal of Biological Chemistry, 26: 19231–19237.
Google Scholar
Contzler, R., Favre, B., Huber, M. & Hohl, D. 2005. Cornulin, a new member of the ‘‘fused gene’’ family, is expressed during epidermal differentiation. Journal Investigative Dermatology, 124: 990–997.
Google Scholar
Custovic, A. & Simpson, A. 2012. The role of inhalant allergens in allergic airways disease. Journal of Investigational Allergology and Clinical Immunology, 22: 393–401.
Google Scholar
Ellinghaus, D., Bauecht, H., Esparza-Gordillo, J., Rodrigez, E., Matanowic, A., Marenholz, I., Hubner, N., Schaarschmidt, H., et all 2013. Highdensity genotyping study identifies four new susceptibility loci for atopic dermatitis. Nature genetics, 45: 808–811.
Google Scholar
Esparza-Gordillo, J., Weidinger, S., Fölster-Holst, R., Bauerfeind, A., Ruschendorf, F. & Patone, G. 2009. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nature Genetics, 41: 596–601.
Google Scholar
Gan, S. & McBride, O. 1990. Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry, 29: 9432–9440.
Google Scholar
Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S. & Hennies, H.C. 2006. Towards characterization of palmoplantar keratoderma caused by gain-offunction mutation in loricrin: analysis of a family and review of the literature. The British Journal of Dermatology, 154: 167–171.
Google Scholar
Greisenegger, E., Zimprich, F., Zimprich, A., Gleiss, A. & Kopp, T. 2013. Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients. European journal of dermatology, 1: 142–145.
Google Scholar
Henry, J., Hsu C.Y., Haftek, M., Nachat, R., de Koning, H.D., Gardinal-Galera, I., Hitomi, K., Balica, S., Jean-Decoster, C., Schmitt, A.M., Paul C., Serre, G. & Simon, M. 2011. Hornerin is a component of the epidermal cornified cel envelopes. FASEB journal: official publication of the Federation of American Societies for Experimental Biology, 25: 1567–1576.
Google Scholar
Hirota, T., Takahashi, A., Kubo, M., Tsunoda, T., Tomita, K., Sakashita, M., Yamada, T., Fujieda, S., Tanaka, S., Doi, S., et all. 2012. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nature Genetics, 44: 1222–1225.
Google Scholar
Hoffjan, S., Beygo, J., Akkad, D.A., Parwez, Q., Petrasch-Parwez, E. & Epplen, J.T. 2009. Analysis of variation in the IL7RA and IL2RA genes in atopic dermatitis. Journal of Dermatological Science, 55: 138–140.
Google Scholar
Hohl, D., Mehrelg, T., Lichtig, U., Turner, M., Roop, D. & Steinert, P. 1991. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. The Journal of Biological Chemistry, 266: 6626–6636.
Google Scholar
Hohl, D., de Viragh, P.A. & Amiguet-Barras, F. 1995. The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins. Journal of Investigation Dermatology, 104: 902–909.
Google Scholar
Huber, M., Siegenthaler, G., Mirancea, N., Marenholz, I., Nizetic, D. & Breitkreutz, D. 2005. Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. The Journal of Investigative Dermatology, 124: 998–1007.
Google Scholar
Hussein, Y., Ahmad, A., Ibrahem, M., Elsherbeny, H., Shalaby, S., El-Shal, A. & Sabbah, N. 2011. Interleukin 13 receptors as biochemical markers in atopic patients. Journal of Investigational Allergology & Clinical Immunology, 21: 101–107.
Google Scholar
Ibrahim, G.H., ElTabbakh, M.T., Gomaa, A.H. & Mohamed, E.A. 2012. Interleukin-18 gene polymorphisms in Egyptian patients with allergic diseases. American Journal of Rhinology & Allergy, 26: 385–389.
Google Scholar
Jansen, M., Haapalahti, B. & Hopsu-Havu, M. 1973. Immunoglobulin E in the human atopic skin. Archives of Dermatological Research, 246: 299–302.
Google Scholar
Jarzab, J., Filipowska, B., Zebracka, J., Kowalska, M., Bozek, A., Rachowska, R., Gubala, E., Grzanka, A., Hadas, E. & Jarzab, B. 2005. Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A. International Archives of Allergy and Immunology, 151: 28–37.
Google Scholar
International HapMap Consortium. The International HapMap Project. 2003. Nature, 426: 789–796.
Google Scholar
Kartasova, T. & van de Putte, P. 1988. Isolation, characterization, and UV-stimulated expression of two families of genes encoding polypeptides of related structure in human epidermal keratinocytes. Molecular Cell Biology, 8: 2195–2203.
Google Scholar
Kasraie, S., Niebuhr, M. & Werfel, T. 2013. Interleukin (IL)-31 activates signal transducer and activator of transcription (STAT)-1, STAT-5 and extracellular signal-regulated kinase 1/2 and down-regulates IL-12p40 production in activated human macrophages. Allergy, (Epub).
Google Scholar
Kayserova, J., Sismova, K., Zentsova-Jaresova, I., Katina, S., Vernerova, E., Polouckova, A., Capkova, S., Malinova, V., Striz, I. & Sediva, A. 2012. A prospective study in children with a severe form of atopic dermatitis: clinical outcome in relation to cytokine gene polymorphisms. Journal of Investigational Allergology & Clinical Immunology, 22: 92–101.
Google Scholar
Krieg, P., Schuppler, M., Koesters, R., Mincheva, A., Lichter, P. & Marks, F. 1997. Repetin (Rptn), a new member of the "fused gene" subgroup within the S100 gene family encoding a murine epidermal differentiation protein. Genomics, 43: 339–348.
Google Scholar
Kypriotou, M., Huber, M. & Hohl, D. 2012. The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' family. Experimental Dermatology, 21: 643–649.
Google Scholar
Lacy, K., Archer, C., Wood, N. & Bidwell, J. 2009. Association between a common IL10 distal promoter haplotype and IgE production in individuals with atopic dermatitis. International Journal of Iimmunogenetics, 36: 213–216.
Google Scholar
Leung, D.Y. & Bieber, T. 2003. Atopic dermatitis. Lancet, 361: 151–60.
Google Scholar
Liedén, A., Ekelund, E., Kuo, I.C., Kockum, I., Huang, C.H. & Mallbris, L. 2009. Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema. Allergy, 64: 304–311.
Google Scholar
Makino, T., Takaishi, M., Morohashi, M. & Huh, N. 2001. Hornerin, a novel profilaggrin-like protein and differentiation-specific marker isolated from mouse skin. Journal of biological chemistry, 276: 47445–47452.
Google Scholar
Marenholz, I., Rivera, V.A., Esparza-Gordillo, J., Bauerfeind, A., Lee-Kirsch, M.A., Ciechanowicz, A., Kurek, M., Piskackova, T., Macek, M. & Lee, Y.A. 2011. Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema. The Journal of investigative dermatology, 131: 1644–1649.
Google Scholar
Markova, N., Marekov, L., Chipev, C., Gan, S., Idler, W. & Steinert, P. 1993. Profilaggrin is a major calcium-binding protein. Molecular Cell Biology, 13: 613–625.
Google Scholar
McAleer, M.A. & Irvine, A.D. 2013. The multifunctional role of filaggrin in allergic skin disease. The Journal of Allergy and Clinical Immunology, 131: 280–291.
Google Scholar
McCarthy, M.I., Abecasis, G.R. & Cardon, L.R. 2008. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature reviews genetics, 9: 356–369.
Google Scholar
Namkung, J.H., Lee, J.E., Kim, E., Kim, H.J., Seo, E.Y., Jang, H.Y., Shin, E.S., Cho, E.Y. & Yang, J.M. 2010. Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rbeta1 and beta2) genes and gene-gene interactions with atopic dermatitis in Koreans. Journal of Dermatological Science, 57: 199–206.
Google Scholar
Namkung, J.H., Lee, J.E., Kim, E., Kim, H.J., Seo, E.Y., Jang, H.Y., Shin, E.S., Cho, E.Y., Yang, J.M. 2011a. Association of polymorphisms in genes encoding IL-4, IL-13 and their receptors with atopic dermatitis in a Korean population. Experimental Dermatology, 20: 915–919.
Google Scholar
Namkung, J.H., Lee, J.E., Kim, E., Kim, H.J., Seo, E.Y., Jang, H.Y., Shin, E.S., Cho, E.Y. & Yang, J.M. 2011b. An association between IL-9 and IL-9 receptor gene polymorphisms and atopic dermatitis in a Korean population. Journal of Dermatological Science, 62: 16–21.
Google Scholar
Nomura, I., Gao, B., Boguniewicz, M., Darst, M.A., Travers, J.B. & Leung, D.Y. 2003. Distinct patterns of gene expression in the skin lesions of atopic dermatitis and psoriasis: a gene microarray analysis. The Journal of Allergy and Clinical Immunology, 112: 1195–1202.
Google Scholar
Palmer, C.N., Irvine, A.D., Terron-Kwiatkowski, A., Zhao, Y., Liao, H., Lee, S.P. & Goudie, D.R. 2006. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nature Genetics, 38: 441–446.
Google Scholar
Proksch, E., Fölster-Holst, R. & Jensen J.M. 2006. Skin barrier function, epidermal proliferation and differentiation in eczema. Journal of Dermatological Science, 43: 159–169.
Google Scholar
Raedler, D., Illi, S., Pinto, L.A., von Mutius, E., Illig, T., Kabesch, M. & Schaub, B. 2013. IL10 polymorphisms influence neonatal immune responses, atopic dermatitis, and wheeze at age 3 years. The Journal of Allergy and Clinical Immunology, 131: 789–796.
Google Scholar
Schulz, F., Marenholz, I., Fölster-Holst, R., Chen, C., Sternjak, A., Baumgrass, R., Esparza-Gordillo, J., Grüber, C., Nickel, R., Schreiber, S., Stoll, M., Kurek, M., Rüschendorf, F., Hubner, N., Wahn, U. & Lee, Y.A. 2007. A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema. The Journal of Allergy and Clinical Immunology, 120: 1097–1102.
Google Scholar
Sharma, M., Mehla, K., Batra, J. & Ghosh, B. 2007. Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like prolinerich 1 (LELP1) gene with total serum IgE levels. Journal of Human Genetics 52: 378–383.
Google Scholar
Steven, A. & Steinert, P., 1994. Protein composition of cornified cell envelopes of epidermal keratinocytes. Journal of Cell Science, 107: 693–700.
Google Scholar
Takaishi, M., Makino, T., Morohashi, M. & Huh, N.H. 2005. Identification of human hornerin and its expression in regenerating and psoriatic skin. The Journal of Biological Chemistry, 280: 4696–4703.
Google Scholar
Tamari, M., Tanaka, S. & Hirota, T. 2013. Genomewide association studies of allergic diseases. Allergology International, 62: 21–28.
Google Scholar
Tong, L., Corrales, R.M., Chen, Z., Villarreal, A.L., De Paiva, C.S., Beuerman, R., Li, D.Q. & Pflugfelder, S.C. 2006. Expression and regulation of cornified envelope proteins in human corneal epithelium. Investigative Ophthalmology & Visual Science, 47: 1938–1946.
Google Scholar
Weidinger, S., Willis-Owen, S.A., Kamatani, Y., Baurecht, H., Morar, N., Edser, P., Street, T., Rodrigez, E., O’regan, G.M., et all. 2013. A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Human Molecular Genetics, 1–16.
Google Scholar
Williams, H. & Flohr, C. 2006. How epidemiology has challenged 3 prevailing concepts about atopic dermatitis. Journal of Allergy and Clinical Immunology, 118: 209–213.
Google Scholar
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