Chronic Obstructive Pulmonary Disease. 1: Susceptibility Factors for COPD the Genotype-environment Interaction

Overview

Journal Thorax

Date 2002 Aug 1

PMID 12149538

Citations 36

Authors

A J Sandford

E K Silverman

Affiliations

Soon will be listed here.

Abstract

Genetic factors including alpha(1)-antitrypsin deficiency are important in COPD. Candidate gene association studies in COPD are reviewed. Efforts to identify interactions between genetic factors and environmental determinants such as smoking may lead to improved understanding of the pathogenesis of the disease.

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References

Higham M, Pride N, Alikhan A, Morrell N . Tumour necrosis factor-alpha gene promoter polymorphism in chronic obstructive pulmonary disease. Eur Respir J. 2000; 15(2):281-4. DOI: 10.1034/j.1399-3003.2000.15b10.x. View

Pignatti P, Bombieri C, Benetazzo M, Casartelli A, Trabetti E, Gile L . CFTR gene variant IVS8-5T in disseminated bronchiectasis. Am J Hum Genet. 1996; 58(4):889-892. PMC: 1914690. View

Beaty T, Menkes H, Cohen B, Newill C . Risk factors associated with longitudinal change in pulmonary function. Am Rev Respir Dis. 1984; 129(5):660-7. DOI: 10.1164/arrd.1984.129.5.660. View

Silverman E, Speizer F . Risk factors for the development of chronic obstructive pulmonary disease. Med Clin North Am. 1996; 80(3):501-22. DOI: 10.1016/s0025-7125(05)70451-x. View

Cohen B, Diamond E, Graves C, Kreiss P, Levy D, Menkes H . A common familial component in lung cancer and chronic obstructive pulmonary disease. Lancet. 1977; 2(8037):523-6. DOI: 10.1016/s0140-6736(77)90663-8. View

Tobin M, Cook P, HUTCHISON D . 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(1):14-27. DOI: 10.1016/0007-0971(83)90002-5. View

Black L, Kueppers F . alpha1-Antitrypsin deficiency in nonsmokers. Am Rev Respir Dis. 1978; 117(3):421-8. DOI: 10.1164/arrd.1978.117.3.421. View

Seersholm N, Wilcke J, Kok-Jensen A, Dirksen A . Risk of hospital admission for obstructive pulmonary disease in alpha(1)-antitrypsin heterozygotes of phenotype PiMZ. Am J Respir Crit Care Med. 2000; 161(1):81-4. DOI: 10.1164/ajrccm.161.1.9812131. View

Mahadeva R, Westerbeek R, Perry D, Lovegrove J, Whitehouse D, Carroll N . Alpha1-antitrypsin deficiency alleles and the Taq-I G-->A allele in cystic fibrosis lung disease. Eur Respir J. 1998; 11(4):873-9. DOI: 10.1183/09031936.98.11040873. View

10.

Sandford A, Chagani T, Weir T, Connett J, Anthonisen N, Pare P . Susceptibility genes for rapid decline of lung function in the lung health study. Am J Respir Crit Care Med. 2001; 163(2):469-73. DOI: 10.1164/ajrccm.163.2.2006158. View

11.

Cabero-Perez M, Gonzalez-Lamuno D, Delgado-Rodriguez M, Garcia-Fuentes M . PI SZ phenotype in chronic obstructive pulmonary disease. Thorax. 1997; 52(7):659-61. PMC: 1758602. DOI: 10.1136/thx.52.7.659. View

12.

Cantlay A, Lamb D, Gillooly M, Norrman J, Morrison D, Smith C . Association between the CYP1A1 gene polymorphism and susceptibility to emphysema and lung cancer. Clin Mol Pathol. 1995; 48(4):M210-4. PMC: 407965. DOI: 10.1136/mp.48.4.m210. View

13.

Ishii T, Matsuse T, Teramoto S, Matsui H, Hosoi T, Fukuchi Y . Association between alpha-1-antichymotrypsin polymorphism and susceptibility to chronic obstructive pulmonary disease. Eur J Clin Invest. 2000; 30(6):543-8. DOI: 10.1046/j.1365-2362.2000.00655.x. View

14.

Cohen B, BALL Jr W, Brashears S, Diamond E, Kreiss P, Levy D . Risk factors in chronic obstructive pulmonary disease (COPD). Am J Epidemiol. 1977; 105(3):223-32. DOI: 10.1093/oxfordjournals.aje.a112378. View

15.

Piitulainen E, Tornling G, Eriksson S . Environmental correlates of impaired lung function in non-smokers with severe alpha 1-antitrypsin deficiency (PiZZ). Thorax. 1999; 53(11):939-43. PMC: 1745103. DOI: 10.1136/thx.53.11.939. View

16.

Chen Y, Horne S, Rennie D, Dosman J . Segregation analysis of two lung function indices in a random sample of young families: the Humboldt Family Study. Genet Epidemiol. 1996; 13(1):35-47. DOI: 10.1002/(SICI)1098-2272(1996)13:1<35::AID-GEPI4>3.0.CO;2-5. View

17.

Naylor L, Clark E . d(TG)n.d(CA)n sequences upstream of the rat prolactin gene form Z-DNA and inhibit gene transcription. Nucleic Acids Res. 1990; 18(6):1595-601. PMC: 330531. DOI: 10.1093/nar/18.6.1595. View

18.

Cohen B, Bias W, Chase G, Diamond E, Graves C, Levy D . Is ABH nonsecretor status a risk factor for obstructive lung disease?. Am J Epidemiol. 1980; 111(3):285-91. DOI: 10.1093/oxfordjournals.aje.a112898. View

19.

Silverman E, Chapman H, Drazen J, Weiss S, Rosner B, Campbell E . Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis. Am J Respir Crit Care Med. 1998; 157(6 Pt 1):1770-8. DOI: 10.1164/ajrccm.157.6.9706014. View

20.

Gauderman W, Siegmund K . Gene-environment interaction and affected sib pair linkage analysis. Hum Hered. 2001; 52(1):34-46. DOI: 10.1159/000053352. View