Kronik obstrüktif akciğer hastalığında genetik risk faktörleri

Gunen, Hakan; GÜLBAŞ, GAZİ; MUTLU, LEVENT CEM

Kronik obstrüktif akciğer hastalığında genetik risk faktörleri

Levent Cem MUTLU, (Namık Kemal Üniversitesi, Tıp Fakültesi, Göğüs Hastalıkları Anabilim Dalı, Tekirdağ, Türkiye)

Gazi GÜLBAŞ, (İnönü Üniversitesi, Tıp Fakültesi, Göğüs Hastalıkları Anabilim Dalı, Malatya, Türkiye)

Hakan GÜNEN (Ümraniye Eğitim ve Araştırma Hastanesi, Göğüs Hastalıkları Kliniği, İstanbul, Türkiye)

Solunum

10 3

Yıl: 2012 Cilt: 14 Sayı: 1 Sayfa Aralığı: 1 - 5 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Kronik obstrüktif akciğer hastalığında genetik risk faktörleri

Öz:

Kronik obstrüktif akciğer hastalığı (KOAH) oluşumunda genetik faktörlerin rolünün önemli olduğu fikri genel olarak kabul edilmektedir. Bununla birlikte, yarım asırdan uzun süredir yapılan birçok çalışmadan α-1 antitripsin eksikliğinin tek başına KOAHa yol açabileceği bilgisi dışında kesin bir sonuç elde edilememiştir. Elimizdeki veriler ışığında, birçok gen bozuklukları arasındaki etkileşimlerin üstüne eklenen sigara dumanı gibi çevresel faktörlerin KOAH oluşumdan sorumlu olduğu söylenebilir. Şüphesiz gelecekte de KOAH oluşumunda genetik risk faktörleri, üzerinde en fazla çalışılan konulardan biri olmaya devam edecektir.

Anahtar Kelime:

Konular: Solunum Sistemi

Genetic risk factors in chronic obstructive pulmonary disease

Öz:

The role of genetic factors in development of chronic obstructive pulmonary disease (COPD) is accepted in general. However, other than α-1 antitrypsin deficiency which alone can lead to COPD, the studies performed longer than half a century did not yield any certain result on the genetics of COPD. Regarding the data available, it can be said that addition of environmental factors like cigarette smoking on interrelations between genetic abnormalities are responsible for COPD development. No doubt that the role of genetics on COPD development will continue to be one of the important research issues in future too.

Anahtar Kelime:

Konular: Solunum Sistemi

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

1. http://www.who.int/respiratory/copd/burden/en/index.html (24.03.2010)
2. Gunen H, Hacievliyagil SS, Yetkin O, Gulbas G, Mutlu LC, Pehlivan E. Prevalence of COPD: first epidemiological study of a large region in Turkey. Eur J Intern Med 2008;19:499-504.
3. Mannino DM, Homa DM, Akinbami LJ, Ford ES, Redd SC. Chronic obstructive pulmonary disease surveillanceUnited States, 1971- 2000. MMWR Surveill Summ 2002;51:1-16.
4. Oulette DR. The answer is fifteen percent: what is the question? Chest 2004;125:3-5.
5. Global Initiative for Chronic Obstructive Lung Disease. Definition. Global Strategy for the diagnosis, management, and prevention of Chronic Obstructive Lung Disease 2006;1-6.
6. Kueppers F, Miller RD, Gordon H, Hepper NG, Offord K. Familial prevalence of chronic obstructive pulmonary disease in a matched pair study. Am J Med 1977;63:336-342.
7. Redline S, Tishler PV, Rosner B, Lewitter FI, Vandenburgh M, Weiss ST, et al. Genotypic and phenotypic similarities in pulmonary function among family members of adult monozygotic and dizygotic twins. Am J Epidemiol 1989;129:827-836.
8. Carrozzi L, Rijcken B, Burney P, DeGraaf A, et al. Family history for chronic lung diseases and epidemiological determinants of COPD in three European countries. Eur Respir Rev 2001;11:49-54.
9. Silverman EK. Genetic epidemiology of COPD. Chest 2002; 121:1-6.
10. Needham M, Stockley RA: Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. Thorax 2004,59:441-445.
11. Potempa I, Korzus E, Travis I. The serpin superfamily of proteinase inhibitors: structure, function, and regulation. J Biol Chem 1994; 269:15957-15960.
12. Tobin MJ, Cook PJL, Hutchinson DCS. Alpha 1-antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British Thoracic Association. Br J Dis Chest 1983;77:1427.
13. Wood AM, Stockley RA. The genetics of chronic obstructive pulmonary disease. Respir Res 2006;7:130:1-14.
14. Sandford AJ, Chagani T, Weir TD, Connett JE, Anthonisen NR, Paré PD. Susceptibility genes for rapid decline of lung function in the Lung Health Study. Am J Respir Crit Care Med 2001;163:469-473.
15. Silva GE, Sherrill DL, Guerra S, Barbee RA. A longitudinal study of α1-antitrypsin phenotypes and decline in FEV1 in a community population. Chest 2003;123:1435-1440.
16. Demeo DL, Mariani TJ, Lange C, Srisuma S, Litonjua AA, Celedon JC, et al. The SERPINE2 gene is associated with chronic obstructive pulmonary disease. Am J Hum Genet 2006;78:253-264.
17. Poller W, Faber JP, Scholz S, Weidinger S, Bartholomé K, Olek K, et al. Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. Lancet 1992;339:1538.
18. Benetazzo MG, Gilè LS, Bombieri C, Malerba G, Massobrio M, Pignatti PF, et al. Alpha1-antitrypsin Taq1 polymorphism and alpha1-antichymotrypsin mutations in patients with obstructive pulmonary disease. Respir Med 1999;93:648-654.
19. Vernooy JH, Lindeman JH, Jacobs JA, Hanemaaijer R, Wouters EF. Increased activity of matrix metalloproteinase-8 and matrix metalloproteinase-9 in induced sputum from patients with COPD. Chest 2004;126:1802-1810.
20. Smolonska J, Wijmenga C, Postma DS, Boazen HM. Meta-analyses on Suspected Chronic Obstructive Pulmonary Disease Genes. Am J Respir Crit Care Med 2009;180:618-631.
21. Hirano K, Sakamoto T, Uchida Y, Morishima Y, Masuyama K, Ishii Y, et al. Tissue inhibitor of metalloprotenases-2 gene polymorphisms in chronic obstructive pulmonary disease. Eur Respir J 2001;18:748- 752.
22. Higashimoto Y, Yamagata Y, Iwata T, Okada M, Ishiguchi T, Sato H, et al. Increased serum concentrations of tissue inhibitor of metalloproteinase-1 in COPD patients. Eur Respir J 2005;25:885-890.
23. Poller W, Barth J, Voss B. Detection of an alteration of the alpha2- macroglobulin gene in a patient with chronic lung disease and serum alpha2-macroglobulin deficiency. Hum Genet 1989;83:93-96.
24. Tzortzaki EG, Siafakas NM. Genetic susceptibility to chronic obstructive pulmonary disease. In: N.M. Siafakas, ed. Management of chronic obstructive pulmonary disease. Eur Respir Mon UK:ERS;2006;38:84-99.
25. Abe T, Kobayashi N, Yoshimura K, Trapnell BC, Kim H, Hubbard RC, et al. Expression of the secretory leukoprotease inhibitor gene in epithelial cells. J Clin Invest 1991;87:2207-2215.
26. Sandford AJ, Silverman EK. Chronic obstructive pulmonary disease 1: Susceptibility factors for COPD the genotype-environment interaction. Thorax 2002;57:736-741.
27. Hassett C, Aicher L, Sidhu JS, Omiecinski CJ. Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. Hum Mol Genet 1994;3:421-428.
28. Smith CA, Harrison DJ. Association between polymorphism in gene microsomal epoxide hydrolase and susceptibility to emphysema. Lancet 1997;350:630-633.
29. Board P, Coggan M, Johnston P, Ross V, Suzuki T, Webb G. Genetic heterogeneity of the human glutathione transferases: a complex of gene families. Pharmacol Ther 1990;48:357-369.
30. Joos L, Paré PD, Sandford AJ. Genetic risk factors for chronic obstructive pulmonary disease. Swiss Med Wkly 2002;132:27-37.
31. Yim JJ, Park GY, Lee CT, Kim YW, Han SK, Shim YS, et al. Genetic susceptibility to chronic obstructive pulmonary disease in Koreans: combined analysis of polymorphic genotypes for microsomal epoxide hydrolase and glutathione S-transferase M1 andT1. Thorax 2000;55:121-125.
32. Ishii T, Matsuse T, Teramoto S, Matsui H, Miyao M, Hosoi T, et al. Glutathione S-transferase P1 (GSTP1) polymorphism in patients with chronic obstructive pulmonary disease. Thorax 1999;54:693-696.
33. Yim JJ, Yoo CG, Lee CT, Kim YW, Han SK, Shim YS. Lack of association between glutathione S-transferase P1 polymorphism and COPD in Koreans. Lung 2002;180:119-125.
34. Sandström J, Nilsson P, Karlsson K, Marklund SL. 10-fold increase in human plasma extracellular superoxide dismutase content caused by a mutation in heparin-binding domain. J Biol Chem 1994;268:1916319166.
35. Dahl M, Bowler RP, Juul K, Crapo JD, Levy S, Nordestgaard BG. Superoxide dismutase 3 polymorphism associated with reduced lung function in two large populations. Am J Respir Crit Care Med 2008;178:906-912.
36. Otterbein LE, Lee PJ, Chin BY, Petrache I, Camhi SL, Alam J, et al. Protective effects of heme oxygenase-1 in acute lung injury. Chest 1999;116(1 Suppl):61S-63S.
37. Yamada N, Yamaya M, Okinaga S, Nakayama K, Sekizawa K, Shibahara S, et al. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 2000;66:187-195.
38. Gervais R, Lafitte JJ, Dumur V, Kesteloot M, Lalau G, Houdret N, et al. Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis. Lancet 1993;342:997.
39. Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, et al. CFTR gene mutations including three novel nucleotide substitutions and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 2001;108:216-221.
40. Yamamoto N, Homma S. Vitamin D-binding protein (group-specific component) is a precursor for the macrophage-activating signal factor from lysophosphatidyl-cholin-treated lymphocytes. Proc Natl Acad Sci USA 1991;88:8539-8543.
41. Kew RR, Webster RO. Gc-globulin (vitamin D-binding protein) enhances the neutrophil chemotactic activity of C5a and C5a des Arg. J Clin Invest 1988;82:364-369.
42. Horne SL, Cockcroft DW, Dosman JA. Possible protective effect against chronic obstructive pulmonary disease by the GC2 allele. Hum Hered 1990;40:173-176.
43. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation. Proc Natl Acad Sci USA 1997;94:3195-3199.
44. van der Pouw Kraan TC, Küçükaycan M, Bakker AM, Baggen JM, van der Zee JS, Dentener MA, et al. Chronic obstructive pulmonary disease is associated with the -1055 IL-13 promoter polymorphism. Genes Immun 2002;3:436-439.

APA	MUTLU L, GÜLBAŞ G, Gunen H (2012). Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. , 1 - 5.
Chicago	MUTLU LEVENT CEM,GÜLBAŞ GAZİ,Gunen Hakan Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. (2012): 1 - 5.
MLA	MUTLU LEVENT CEM,GÜLBAŞ GAZİ,Gunen Hakan Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. , 2012, ss.1 - 5.
AMA	MUTLU L,GÜLBAŞ G,Gunen H Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. . 2012; 1 - 5.
Vancouver	MUTLU L,GÜLBAŞ G,Gunen H Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. . 2012; 1 - 5.
IEEE	MUTLU L,GÜLBAŞ G,Gunen H "Kronik obstrüktif akciğer hastalığında genetik risk faktörleri." , ss.1 - 5, 2012.
ISNAD	MUTLU, LEVENT CEM vd. "Kronik obstrüktif akciğer hastalığında genetik risk faktörleri". (2012), 1-5.

APA	MUTLU L, GÜLBAŞ G, Gunen H (2012). Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. Solunum, 14(1), 1 - 5.
Chicago	MUTLU LEVENT CEM,GÜLBAŞ GAZİ,Gunen Hakan Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. Solunum 14, no.1 (2012): 1 - 5.
MLA	MUTLU LEVENT CEM,GÜLBAŞ GAZİ,Gunen Hakan Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. Solunum, vol.14, no.1, 2012, ss.1 - 5.
AMA	MUTLU L,GÜLBAŞ G,Gunen H Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. Solunum. 2012; 14(1): 1 - 5.
Vancouver	MUTLU L,GÜLBAŞ G,Gunen H Kronik obstrüktif akciğer hastalığında genetik risk faktörleri. Solunum. 2012; 14(1): 1 - 5.
IEEE	MUTLU L,GÜLBAŞ G,Gunen H "Kronik obstrüktif akciğer hastalığında genetik risk faktörleri." Solunum, 14, ss.1 - 5, 2012.
ISNAD	MUTLU, LEVENT CEM vd. "Kronik obstrüktif akciğer hastalığında genetik risk faktörleri". Solunum 14/1 (2012), 1-5.