Top

Gepubliceerd in:

01-04-2004 | Artikelen

Astma en atopie: complexe genetische ziekten

Auteurs: N. E. Reijmerink, G. H. Koppelman, D. S. Postma

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | Uitgave 2/2004

Samenvatting

De laatste decennia nam astma en atopie fors toe, met name in de westerse landen. Op dit moment is astma de meest voorkomende chronische ziekte onder kinderen in Nederland. Uit onderzoek is gebleken dat de interactie van genen en omgevingsfactoren ten grondslag ligt aan de ontwikkeling van astma en atopie. De chromosomen 2, 5, 6, 7, 11, 12, 13 en 20 zijn in verschillende populaties gekoppeld aan astma en atopie. Onderzoek naar de oorzaak van astma en atopie heeft recent geleid tot de identificatie van drie nieuwe genen: adam33, phf11 en dpp10. Deze belangrijke ontdekkingen werpen een nieuw licht op de pathogenese van astma en atopie. Hiernaast is duidelijk geworden hoe varianten in verschillende genen bijdragen aan de ontwikkeling van astma en atopie, zoals interleukine-13 en de interleukine-4 receptor. Ook de respons op astmamedicatie lijkt deels van genetische factoren afhankelijk te zijn. Onderzoeken naar de functie van astma- en atopie-genen, alsook de interactie tussen genen en omgevingsfactoren zullen de komende jaren meer inzicht geven in de toename van astma en atopie. Dit kan mogelijk leiden tot een betere diagnose, gerichte behandeling en mogelijk preventie van astma en atopie in de toekomst.

vorige artikel Genetische factoren van de gastheer in infecties met Neisseria meningitidis

volgende artikel Genpolymorfismen en inflammatoire darmziekten

Woolcock AJ, Peat JK. Evidence for the increase in asthma worldwide. Ciba Found Symp 1997;206:122-34.PubMed

Cuijpers CE, Wesseling GJ, Swaen GM, et al. Asthma-related symptoms and lung function in primary school children. J Asthma 1994;31(4):301-12.CrossRefPubMed

Janssen NAH. Prevalentie van luchtwegklachten bij basisschoolkinderen in Nederland. Tijdschr Soc Gezondheidsz 1994;72:3-8.

Cookson WO. Asthma genetics. Chest 2002;121(3 Suppl):7-13.CrossRef

Kay AB. Allergy and allergic diseases. Second of two parts. N Engl J Med 2001;344(2):109-13.CrossRefPubMed

National Institute of Health. National Heart, Lung and Blood Institute. Global initiative for asthma. 1995.

Davies DE, Wicks J, Powell RM, et al. Airway remodelling in asthma: new insights. J Allergy Clin Immunol 2003;111(2):215-25.CrossRefPubMed

Cokugras H, Akcakaya N, Seckin, et al. Ultrastructural examination of bronchial biopsy specimens from children with moderate asthma. Thorax 2001;56(1):25-9.CrossRefPubMed

Postma DS, Meijer GG, Koppelman GH. Definition of asthma: possible approaches in genetic studies. Clin Exp Allergy 1998;28(Suppl 1):62-4.CrossRefPubMed

Busse WW, Lemanske RF, Jr. Asthma. N Engl J Med 2001;344(5):350-62.CrossRefPubMed

Holt PG, Sly PD, Bjorksten B. Atopic versus infectious diseases in childhood: a question of balance? Pediatr Allergy Immunol 1997;8(2):53-8.CrossRefPubMed

Wiener AS. The inheritance of allergic disease. Ann Eugenics 1936;7:141-62.

Cooke RA. Human sensitisation. J Immunology 1916;1:201-39.

Laitinen T, Rasanen M, Kaprio J, et al. Importance of genetic factors in adolescent asthma: a population-based twin-family study. Am J Respir Crit Care Med 1998;157(4 Pt 1):1073-8.PubMed

Duffy DL, Mitchell CA, Martin NG. Genetic and environmental risk factors for asthma: a cotwin-control study. Am J Respir Crit Care Med 1998;157(3 Pt 1):840-5.PubMed

Huovinen E, Kaprio J, Laitinen LA, et al. Incidence and prevalence of asthma among adult Finnish men and women of the Finnish Twin Cohort from 1975 to 1990, and their relation to hay fever and chronic bronchitis. Chest 1999;115(4):928-36.CrossRefPubMed

Rasanen M, Kaprio J, Laitinen T, et al. Perinatal risk factors for hay fever – a study among 2550 Finnish twin families. Twin Res 2001;4(5):392-9.CrossRefPubMed

Koeppen-Schomerus G, Stevenson J, Plomin R. Genes and environment in asthma: a study of 4 year old twins. Arch Dis Child 2001;85(5):398-400.CrossRefPubMed

Slutsky AS. Genetics of asthma: a primer. Can Respir J 1998;5(Suppl A):4-8.

Duffy DL, Martin NG, Battistutta D, et al. Genetics of asthma and hay fever in Australian twins. Am Rev Respir Dis 1990;142(6 Pt 1):1351-8.PubMed

Clarke JR, Jenkins MA, Hopper JL, et al. Evidence for genetic associations between asthma, atopy, and bronchial hyperresponsiveness: a study of 8- to 18-yr-old twins. Am J Respir Crit Care Med 2000;162(6):2188-93.PubMed

Akasawa A, Koya N, Iikura Y. Investigation of the genetics in allergic children: the first report – Twin study on HLA in allergic disease [in het Japans]. Arerugi 1991;40(4):428-34.PubMed

Koppelman GH, Los H, Postma DS. Genetic and environment in asthma: the answer of twin studies. Eur Respir J 1999; 13(1):2-4.CrossRefPubMed

Amelung PJ, Postma D, Panhuysen CI, et al. Susceptibility loci regulating total serum IgE levels, bronchial hyperresponsiveness, and clinical asthma map to chromosome 5q. Chest 1997;111(6 Suppl):77-8.CrossRef

Thomas NS, Wilkinson J, Holgate ST. The candidate region approach to the genetics of asthma and allergy. Am J Respir Crit Care Med 1997;156(4 Pt 2):S144-51.PubMed

Koppelman GH, Stine OC, Xu J, et al. Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J Allergy Clin Immunol 2002;109(3):498-506.CrossRefPubMed

Vercelli D, Baldini M, Stern D, et al. CD14: a bridge between innate immunity and adaptive IgE responses. J Endotoxin Res 2001;7(1):45-8.PubMed

Hoffjan S, Ober C. Present status on the genetic studies of asthma. Curr Opin Immunol 2002;14(6):709-17.CrossRefPubMed

Eerdewegh P van, Little RD, Dupuis J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418(6896):426-30.CrossRefPubMed

Allen M, Heinzmann A, Noguchi E, et al. Positional cloning of a novel gene influencing asthma from chromosome 2q14. Nat Genet 2003;35(3):258-63.CrossRefPubMed

Zhang Y, Leaves NI, Anderson GG, et al. Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. Nat Genet 2003;34(2):181-6.CrossRefPubMed

Howard TD, Postma DS, Jongepier H, et al. Association of a disintegrin and metalloprotease 33 (ADAM33) gene with asthma in ethnically diverse populations. J Allergy Clin Immunol 2003;112(4):717-22.CrossRefPubMed

Yoshinaka T, Nishii K, Yamada K, et al. Identification and characterization of novel mouse and human ADAM33s with potential metalloprotease activity. Gene 2002;282(1-2):227-36.CrossRefPubMed

Gunn TM, Azarani A, Kim PH, et al. Identification and preliminary characterization of mouse Adam33. BMC Genet 2002;3(1):2.CrossRefPubMed

Shapiro SD, Owen CA. ADAM-33 surfaces as an asthma gene. N Engl J Med 2002;347(12):936-8.CrossRefPubMed

Bhattacharyya S, Leaves NI, Wiltshire S, et al. A high-density genetic map of the chromosome 13q14 atopy locus. Genomics 2000;70(3):286-91.CrossRefPubMed

Koppelman GH, Stine OC, Xu J, et al. Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J Allergy Clin Immunol 2002;109(3):498-506.CrossRefPubMed

Yokouchi Y, Nukaga Y, Shibasaki M, et al. Significant evidence for linkage of mite-sensitive childhood asthma to chromosome 5q31-q33 near the interleukin 12 B locus by a genome-wide search in Japanese families. Genomics 2000;66 (2):152-60.CrossRefPubMed

Qi SY, Riviere PJ, Trojnar J, et al. Cloning and characterization of dipeptidyl peptidase 10, a new member of an emerging subgroup of serine proteases. Biochem J 2003;373(Pt 1):179-89.CrossRefPubMed

Rolling C, Treton D, Pellegrini S, et al. IL4 and IL13 receptors share the gamma c chain and activate STAT6, STAT3 and STAT5 proteins in normal human B cells. FEBS Lett 1996;393(1):53-6.CrossRefPubMed

Malabarba MG, Rui H, Deutsch HH, et al. Interleukin-13 is a potent activator of JAK3 and STAT6 in cells expressing interleukin-2 receptor-gamma and interleukin-4 receptor-alpha. Biochem J 1996;319(Pt 3):865-72.PubMed

Brusselle GG, Kips JC, Tavernier JH, et al. Attenuation of allergic airway inflammation in IL-4 deficient mice. Clin Exp Allergy 1994;24(1):73-80.CrossRefPubMed

Brusselle G, Kips J, Joos G, et al. Allergen-induced airway inflammation and bronchial responsiveness in wild-type and interleukin-4-deficient mice. Am J Respir Cell Mol Biol 1995;12(3):254-9.PubMed

Vercelli D. Genetics of IL-13 and functional relevance of IL-13 variants. Curr Opin Allergy Clin Immunol 2002;2(5):389-93.CrossRefPubMed

Pouw Kraan TC van der, Veen A van, Boeije LC, et al. An IL-13 promoter polymorphism associated with increased risk of allergic asthma. Genes Immun 1999;1(1):61-5.CrossRefPubMed

Howard TD, Whittaker PA, Zaiman AL, 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;25(3):377-84.PubMed

Leung TF, Tang NL, Chan IH, 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;31 (10):1515-21.CrossRefPubMed

Hackstein H, Hecker M, Kruse S, et al. A novel polymorphism in the 5' promoter region of the human interleukin-4 receptor alpha-chain gene is associated with decreased soluble interleukin-4 receptor protein levels. Immunogenetics 2001;53(4):264-9.CrossRefPubMed

Ober C, Leavitt SA, Tsalenko A, et al. Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 2000;66(2):517-26.CrossRefPubMed

Howard TD, Koppelman GH, Xu J, et al. Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet 2002;70(1):230-6.CrossRefPubMed

Von Mutius E, Martinez FD, Fritzsch C, et al. Prevalence of asthma and atopy in two areas of West and East Germany. Am J Respir Crit Care Med 1994;149(2 Pt 1):358-64.

Strachan DP. Hay fever, hygiene, and household size. BMJ 1989;299(6710):1259-60.CrossRefPubMed

Braun-Fahrlander C. The role of the farm environment and animal contact for the development of asthma and allergies. Clin Exp Allergy 2001;31(12):1799-1803.CrossRefPubMed

Martinez FD. Respiratory syncytial virus bronchiolitis and the pathogenesis of childhood asthma. Pediatr Infect Dis J 2003;22(2 Suppl):76-82.CrossRef

Ponsonby AL, Couper D, Dwyer T, et al. Relationship between early life respiratory illness, family size over time, and the development of asthma and hay fever: a seven year follow up study. Thorax 1999;54(8):664-9.CrossRefPubMed

Koppelman GH, Postma DS. The genetics of CD14 in allergic disease. Curr Opin Allergy Clin Immunol 2003;3(5):347-52.CrossRefPubMed

Holt PG, Sly PD. Interactions between respiratory tract infections and atopy in the aetiology of asthma. Eur Respir J 2002;19(3):538-45.CrossRefPubMed

Baldini M, Lohman IC, Halonen M, et al. A polymorphism in the 5' flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E. Am J Respir Cell Mol Biol 1999;20:976-83.PubMed

LeVan TD, Bloom JW, Bailey TJ, et al. A common single nucleotide polymorphism in the CD14 promoter decreases the affinity of Sp protein binding and enhances transcriptional activity. J Immunol 2001;167(10):5838-44.PubMed

Koppelman GH, Reijmerink NE, Stine OC, et al. Association of a promoter polymorphism of the CD14 gene and atopy. Am J Respir Crit Care Med 2001;163:965-9.PubMed

Ober C, Tsalenko A, Parry R, et al. A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. Am J Hum Genet 2000;67(5):1154-62.PubMed

Leung TF, Tang NL, Sung YM, et al. The C-159T polymorphism in the CD14 promoter is associated with serum total IgE concentration in atopic Chinese children. Pediatr Allergy Immunol 2003;14(4):255-60.CrossRefPubMed

Buckova D, Holla LI, Schuller M, et al. Two CD14 promoter polymorphisms and atopic phenotypes in Czech patients with IgE-mediated allergy. Allergy 2003;58(10):1023-6.CrossRefPubMed

Werner M, Topp R, Wimmer K, et al. TLR4 gene variants modify endotoxin effects on asthma. J Allergy Clin Immunol 2003;112(2):323-30.CrossRefPubMed

Palmer LJ, Silverman ES, Weiss ST, et al. Pharmacogenetics of asthma. Am J Respir Crit Care Med 2002;165(7):861-6.PubMed

Sears MR, Taylor DR. The beta 2-agonist controversy. Observations, explanations and relationship to asthma epidemiology. Drug Saf 1994;11(4):259-83.CrossRefPubMed

Liggett SB. Polymorphisms of the beta2-adrenergic receptor and asthma. Am J Respir Crit Care Med 1997;156(4 Pt 2): S156-62.PubMed

Binaei S, Christensen M, Murphy C, et al. Beta2-adrenergic receptor polymorphisms in children with status asthmaticus. Chest 2003;123(3 Suppl):375.CrossRef

Tan S, Hall IP, Dewar J, et al. Association between beta 2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet 1997;350(9083):995-9.CrossRefPubMed

Palmer LJ, Silverman ES, Weiss ST, et al. Pharmacogenetics of asthma. Am J Respir Crit Care Med 2002;165(7):861-6.PubMed

Brunekreef B, Smit J, Jongste J de, et al. The prevention and incidence of asthma and mite allergy (PIAMA) birth cohort study: design and first results. Pediatr Allergy Immunol 2002;13(Suppl 15):55-60.CrossRefPubMed

Esch H van, Koppelman GH. Een introductie in de genetica van complexe ziekten. Tijdschr Kindergeneeskd 2004;72:152-157.

Titel: Astma en atopie: complexe genetische ziekten
Auteurs: N. E. Reijmerink
G. H. Koppelman
D. S. Postma
Publicatiedatum: 01-04-2004
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Tijdschrift voor Kindergeneeskunde / Uitgave 2/2004
Print ISSN: 0376-7442
Elektronisch ISSN: 1875-6840
DOI: https://doi.org/10.1007/BF03061488

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Samenvatting

Log in om toegang te krijgen

Andere artikelen Uitgave 2/2004

Intestinal amino acid metabolism in neonates

Het juiste geneesmiddel voor de juiste patiënt: farmacogenetica in de kindergeneeskundige praktijk

Pharmacokinetic and cell biological aspects of vincristine efficacy in childhood leukaemia

Genetische factoren van de gastheer in infecties met Neisseria meningitidis

Een introductie in de genetica van complexe ziekten

Auto-immuniteit en polymorfismen van het aangeboren en specifieke immuunsysteem