Abstract
A comparative analysis of allele and genotype distribution of C(−1055)T and R130Q IL13 gene polymorphisms has been performed in Russian patients from the Moscow region. In the study, 283 DNA specimens of atopic bronchial asthma (BA) patients and 227 DNA specimens of healthy donors were used. No association of these markers with atopic BA development as well as with total IgE concentration has been found. Haplotype frequency analysis did not reveal significant difference between samples. However, significant association of C(−1055)T polymorphism with the disease severity has been revealed (OR = 2.39, 95% confidence interval 1.44–3.98, p = 0.001). Therefore, C(−1055)T polymorphism was shown to be associated with atopic BA progression.
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References
Cookson W.O., Asthma Genetics, Chest., 2002, vol. 121, no. 3, pp. 7–13.
Vercelli, D., Genetic Polymorphism in Allergy and Asthma, Curr. Opin. Immunol., 2003, vol. 15, no. 6, pp. 609–613.
Marsh, D.G., Neely, J.D., Breazeale, D.R., et al., Linkage Analysis of IL4 and Other Chromosome 5q31.1 Markers and Total Serum Immunoglobulin E Concentrations, Science, 1994, vol. 264, no. 5162, pp. 1152–1156.
Meyers, D.A., Postma, D.S., Panhuysen, C.I., et al., Evidence for a Locus Regulating Total Serum IgE Levels Mapping to Chromosome 5, Genomics, 1994, vol. 23, no. 2, pp. 464–470.
Puzyrev, V.P., Freidin, M.B., Ogorodova, L.M., and Kobyakova O.S., Interrelation of Polymorphic Variants of Interleukine Genes and Receptors with Atopic Bronchial Asthma, Med. Genet., 2002, vol. 1, no. 2, pp. 86–92.
Baranov, V.S., Ivashchenko, T.E., Lavrova, O.V., and Fedoseev, G.B., Some Molecular Genetic Aspects of Etiopathogenesis of Atopic Bronchial Asthma, Med. Genet., 2008, vol. 76, no. 10, pp. 3–13.
Kelembet, N.A., Gembitskaya T.E., Ivashchenko, T.E., and Lavrova, O.V., Association of IL-4 and IL-4Rα Genes Polymorphism with Allergic Bronchial Asthma, Bolezni Organov Dykhaniya, 2008, no. 1, pp. 36–41.
Zhu, Z., Homer, R.J., and Wang, Z., et al., Pulmonary Expression of Interleukin-13 Causes Inflammation, Mucus Hypersecretion, Subepithelial Fibrosis, Physiologic Abnormalities, and Eotaxin Production, J. Clin. Invest., 1999, vol. 103, no. 6, pp. 779–788.
Lanone, S., Zheng, T., Zhu, Z., et al., Overlapping and Enzyme-Specific Contributions of Matrix Metalloproteinases-9 and -12 in IL-13-Induced Inflammation and Remodeling, J. Clin. Invest., 2002, vol. 110, no. 4, p. 463.
Zhu, Z., Ma, B., Zheng, T., et al., IL-13-Induced Chemokine Responses in the Lung: Role of CCR2 in the Pathogenesis of IL-13-Induced Inflammation and Remodeling, J. Immunol., 2002, vol. 168, no. 6, pp. 2953–2962.
Lee, C.G., Homer, R.J., Zhu, Z., et al., Interleukin-13 Induces Tissue Fibrosis by Selectively Stimulating and Activating Transforming Growth Factor Beta(l), J. Exp. Med., 2001, vol. 194, no. 6, pp. 809–821.
Temann, U.A., Ray, P., and Flavell, R.A., Pulmonary Overexpression of IL-9 Induces Th2 Cytokine Expression, Leading to Immune Pathology, J. Clin. Invest., 2002, vol. 109, no. 1, pp. 29–39.
Van der Pouw Kraan, T.C., van Veen, A., Boeije, L.C., et. al., An IL-13 Promoter Polymorphism Associated with Increased Risk of Allergic Asthma, Genes Immun., 1999, vol. 1, no. 1, pp. 61–65.
Moissidis, I., Chinoy, B., Yanamandra, K., et al., Association of IL-13, RANTES, and Leukotriene C4 Synthase Gene Promoter Polymorphisms with Asthma and/or Atopy in African Americans, Genet. Med., 2005, vol. 7, no. 6, pp. 406–410.
Arima, K., Umeshita-Suyama, R., Sakata, Y., et al., Upregulation of IL-13 Concentration in vivo by the IL13 Variant Associated with Bronchial Asthma, J. Allergy. Clin. Immunol., 2002, vol. 109, no. 6, pp. 980–987.
Heinzmann, A., Mao, X.Q., Akaiwa, M., et al., Genetic Variants of IL-13 Signalling and Human Asthma and Atopy, Hum. Mol. Genet., 2000, vol. 9, no. 4, pp. 549–559.
Heinzmann, A., Jerkic, S.P., Ganter, K., et al., Association Study of the IL13 Variant Argll0Gln in Atopic Diseases and Juvenile Idiopathic Arthritis, J. Allergy Clin. Immunol., 2003, vol. 112, no. 4, pp. 735–739.
Koshak, E.A., Classification of Asthma According to Revised 2006 GINA: Evolution from Severity to Control, Ann. Thorac. Med., 2007, vol. 2, p. 45–46.
Hutchon, D.J.R., Calculator for Confidence Intervals for Odds Ratio Unmatched Case Control Study, http://www.hatchon.net/ConfidOR.htm
Tarazona-Santos, E. and Tishkoff, S.A., Divergent Patterns of Linkage Disequilibrium and Haplotype Structure across Global Populations at the Interleukin-13 (IL13) Locus, Genes Immun., 2005, vol. 6, no. 1, pp. 53–65.
Graves, P.E., Kabesch, M., Halonen, M., et al., A Cluster of Seven Tightly Linked Polymorphisms in the IL-13 Gene Associated with Total Serum IgE Levels in Three Populations of White Children, J. Allergy Clin. Immunol., 2000, vol. 105, no. 3, pp. 506–513.
Howard, T.D., Whittaker, P.A., Zaiman, A.L., et al., Identification and Association of Polymorphisms in the Interleukin-13 Gene with Asthma and Atopy in a Dutch Population, Am. J. Respir. Cell. Mol. Biol., 2001, vol. 25, no. 3, pp. 377–384.
Hofjjan, S., Ostrovnaja, I., Nicolae, D., et al., Genetic Variation in Immunoregulatory Pathways and Atopic Phenotypes in Infancy, J. Allergy Clin. Immunol., 2004, vol. 113, no. 3, pp. 511–518.
DeMeo, D.L., Lange, G., Silverman, E.K., et al., Univariate and Multivariate Family-Based Association Analysis of the IL-13 ARG130GLN Polymorphism in the Childhood Asthma Management Program, Genet. Epidemiol., 2002, vol. 23, no. 4, pp. 335–348.
Liu, X., Beaty, T.H., Deindl, P., et al., Associations between Specific Serum IgE Response and 6 Variants within the Genes IL4, IL13, and IL4RA in German Children: The German Multicenter Atopy Study, J. Allergy Clin. Immunol., 2004, vol. 113, no. 3, pp. 489–495.
Leung, T.F., Tang, N.L., Chan, I.H., et al., A Polymorphism in the Coding Region of Interleukin-13 Gene is Associated with Atopy but not Asthma in Chinese Children, Clin. Exp. Allergy, 2001, vol. 31, no. 10, pp. 1515–1521.
Hummelshoj, T., Bodtger, U., Datta, P., et al., Association between an Interleukin-13 Promoter Polymorphism and Atopy, Eur. J. Immunogenet., 2003, vol. 30, no. 5, pp. 355–359.
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Original Russian Text © E.V. Dmitrieva-Zdorova, O.E. Voronko, M.G. Aksenova, N.V. Bodoev, 2010, published in Genetika, 2010, Vol. 46, No. 1, pp. 111–117.
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Dmitrieva-Zdorova, E.V., Voronko, O.E., Aksenova, M.G. et al. Association of interleukin-13 gene polymorphisms with atopic bronchial asthma. Russ J Genet 46, 99–104 (2010). https://doi.org/10.1134/S1022795410010151
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DOI: https://doi.org/10.1134/S1022795410010151