Z and S mutations of the α1-antitrypsin gene and the risk of chronic obstructive pulmonary disease

American Journal of Respiratory Cell and Molecular Biology

Volumn 20, Issue 2, 1999, Pages 287-291

  Sandford, Andrew J ^a,b   Weir, Tracey D ^a   Spinelli, John J ^a   Paré, Peter D ^a  

^a The James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research   (Canada)

^b ST PAUL S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; PRIMER DNA;

AGED; ALLELE; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; LUNG FUNCTION TEST; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; RISK FACTOR;

AGED; ALLELES; ALPHA 1-ANTITRYPSIN; BASE SEQUENCE; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; LUNG DISEASES, OBSTRUCTIVE; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; RESPIRATORY FUNCTION TESTS; RISK FACTORS;

EID: 0033070995     PISSN: 10441549     EISSN: None     Source Type: Journal    
DOI: 10.1165/ajrcmb.20.2.3177     Document Type: Article

References (36)

1. 1-antitrypsin deficiency. Scand. J. Clin. Invest. 15:132-140.
2. 1-antitrypsin. Hum. Genet. 53:429-433.
3. 1-protease inhibitor deficiency. Eur. Respir. J. 3(Suppl. 9):29s-34s.
4. 1-antitrypsin deficiency of adults with pulmonary symptoms. Am. Rev. Respir. Dis. 138:327-336.
5. 1-antitrypsin deficiency in patients with pulmonary emphysema. N. Engl. J. Med. 281:279-284.
6. 1-antitrypsin variants among junior high school students. Am. Rev. Respir. Dis. 114:1194-1198.
7. 1-antitrypsin Pi-types in 965 COPD patients. Chest 89:370-373.
8. Mittman, C., J. Lieberman, and J. Rumsfeld 1974. Prevalence of abnormal protease inhibitor phenotypes in patients with chronic obstructive lung disease. Am. Rev. Respir. Dis. 109:295-296.
9. 1-antitrypsin deficiency. Am. J. Respir. Crit. Care Med. 154:1718-1725.
10. 1-antitrypsin heterozygotes (PiMZ) in patients with obstructive pulmonary disease. Am. Rev. Respir. Dis. 114:1077-1084.
11. Bartmann, K., M. Fooke-Achterrath, G. Koch, I. Nagy, I. Schütz, E. Weis, and M. Zierski. 1985. Heterozygosity in the Pi-system as a pathogenetic cofactor in chronic obstructive pulmonary disease (COPD). Eur. J. Respir. Dis. 66:284-296.
12. 1-antitrypsin heterozygote controversy. Am. Rev. Respir. Dis. 113:601-606.
13. 1-antitrypsin Pi types in COPD patients. Chest 94:446-447.
14. Tárjan, E., P. Magyar, Z. Váczi, Å. Lantos, and L. Vaszár. 1994. Longitudinal lung function study in heterozygous PiMZ phenotype subjects. Eur. Respir. J. 7:2199-2204.
15. Kueppers, F., R. D. Miller, H. Gordon, N. G. Hepper, and K. Offord. 1977. Familial prevalence of chronic obstructive pulmonary disease in a matched pair study. Am. J. Med. 63:336-342.
16. Chan-Yeung, M., M. J. Ashley, P. Corey, and H. Maledy. 1978. Pi phenotypes and the prevalence of chest symptoms and lung function abnormalities in workers employed in dusty industries. Am. Rev. Respir. Dis. 117: 239-245.
17. McDonagh, D. J., S. P. Nathan, R. J. Knudson, and M. D. Lebowitz. 1979. Assessment of alpha-1-antitrypsin deficiency heterozygosity as a risk factor in the etiology of emphysema. J. Clin. Invest. 63:299-309.
18. Morse, J. O., M. D. Lebowitz, R. J. Knudson, and B. Burrows. 1977. Relation of protease inhibitor phenotypes to obstructive lung diseases in a community. N. Engl. J. Med. 296:1190-1194.
19. Bruce, R. M., B. H. Cohen, E. L. Diamond, R. J. Fallat, R. J. Knudson, M. D. Lebowitz, C. Mittman, C. D. Patterson, and M. S. Tockman. 1984. Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects. Am. Rev. Respir. Dis. 130:386-390.
20. 1-antitrypsin deficiency: a case-control study. Am. Rev. Respir. Dis. 120:759-766.
21. Cole, R. B., N. C. Nevin, G. Blundell, J. D. Merrett, J. R. McDonald, and W. P. Johnston. 1976. Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population. Thorax 31:149-157.
22. 1-antitrypsin phenotype groups in a community population. Am. Rev. Respir. Dis. 117:179-181.
23. 1-antitrypsin variants. Am. Rev. Respir. Dis. 108:918-925.
24. Larsson, C., S. Eriksson, and H. Dirksen. 1977. Smoking and intermediate alpha1-antitrypsin deficiency and lung function in middle-aged men. Br. Med. J. 2:922-925.
25. Hogg, J. C., J. L. Wright, B. R. Wiggs, H. O. Coxson, A. Opazo Saez, and P. D. Paré. 1994. Lung structure and function in cigarette smokers. Thorax 49:473-478.
26. Wright, J. L., B. Wiggs, P. D. Paré, and J. C. Hogg. 1986. Ranking the severity of emphysema on whole lung slices. Am. Rev. Respir. Dis. 133:930-931.
27. Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
28. Cooper, C. S., and M. R. Stratton. 1991. Extraction and enzymatic amplification of DNA from paraffin-embedded specimens. In Methods in Molecular Biology, Vol. 9: Protocols in Human Molecular Genetics. C. Matthew, editor. The Humana Press, Inc., Clifton, NJ. 133-140.
29. Dry, P. J. 1991. Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced Taq1 restriction site. Hum. Genet. 87:742-744.
30. 1-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes. Eur. Respir. J. 3:531-537.
31. 1-antitrypsin. Am. Rev. Respir. Dis. 112:71-75.
32. 1-antitrypsin deficiency. Thorax 34:637-646.
33. 1-antitrypsin heterozygotes (Pi type MZ). Am. Rev. Respir. Dis. 110-715.
34. Hall, W. J., R. W. Hyde, R. H. Schwartz, S. Govind, G. S. Mudholkar, D. R. Webb, Y. P. Chaubey, and P. L. Townes. 1976. Pulmonary abnormalities in intermediate alpha-1-antitrypsin deficiency. J. Clin. Invest. 58:1069-1077.
35. Madison, R., R. Zelman, and C. Mittman. 1980. Inherited risk factors for chronic lung disease. Chest 77(Suppl. 2):255-257.
36. Rodriguez-Cintron, W., K. Guntupalli, and A. E. Fraire. 1996. Bronchiectasis and homozygous (PI ZZ) alpha 1-antitrypsin deficiency in a young man. Thorax 50:424-425.