Protease inhibitor phenotypes and serum alpha-1-antitrypsin levels in patients with COPD: A study from Hong Kong

Respirology

Volumn 9, Issue 2, 2004, Pages 265-270

  Kwok, Janette S Y ^a   Lawton, John W M ^b   Yew, Wing Wai ^c   Chau, Chi Hung ^c   Lee, Joseph ^c   Wong, Poon Chuen ^c  

^a QUEEN MARY HOSPITAL   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c GRANTHAM HOSPITAL   (Hong Kong)

Author keywords

Alpha 1 antitrypsin; Chinese population; Chronic obstructive pulmonary disease; Hong Kong; Lung disease; Phenotype; Protease inhibitor

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEINASE INHIBITOR;

ADULT; AGED; ALLELE; ARTICLE; CHINESE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DRUG BLOOD LEVEL; ENZYME INHIBITION; FEMALE; HIGH RISK POPULATION; HONG KONG; HUMAN; ISOELECTRIC FOCUSING; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; ALPHA 1-ANTITRYPSIN; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; FEMALE; HUMANS; ISOELECTRIC FOCUSING; MALE; MIDDLE AGED; PHENOTYPE; PROSPECTIVE STUDIES; PROTEASE INHIBITORS; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE;

EID: 3242657192     PISSN: 13237799     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1843.2004.00560.x     Document Type: Article

References (49)

1. Cox DW. Alpha 1-antitrypsin, In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). Metabolic Basis of Inherited Disease. McGraw-Hill, New York, 1989; 2409-37.
2. Morse JO. Alpha1-antitrypsin deficiency (first of two parts). N. Engl. J. Med. 1978; 299: 1045-8.
3. Eriksson S. Studies in alpha 1-antitrypsin deficiency, Acta Med. Scand. Suppl. 1965; 432: 1-85.
4. Laurell CB, Eriksson S. The electrophorectic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency. Scand. J. Clin. Laboratory Invest. 1963; 15: 132-40.
5. Morse JO. Alpha1-antitrypsin deficiency (second of two parts). N. Engl. J. Med. 1978; 299: 1099-105.
6. Anonymous. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull. World Health Organ. 1997; 75: 397-415.
7. Henry RJ, Segalove M. The running of standards in clinical chemistry and the use of the control chart. J. Clin. Pathol. 1952; 5: 306-11.
8. Miyake K, Suzuki H, Oka H, Oda T, Harada S. Distribution of alpha1-antitrypsin phenotypes in Japanese. Description of Pi M subtypes by isoelectric focusing. Jinrui Idengaku Zasshi 1979; 24: 55-62.
9. Ying QL, Zhang ML, Liang CC et al. Geographical variability of alpha-1-antitrypsin alleles in China: a study on six Chinese populations. Hum. Genet. 1985; 69: 184-7.
10. Ying QL, Zhang ML, Liang CC et al. Alpha-1-antitrypsin types in five Chinese national minorities. Hum. Genet. 1985; 71: 225-6.
11. Ip MS. Chronic obstructive pulmonary disease in Hong Kong. Respirology 2001; 6 (Suppl.): S3-S7.
12. Zhu YJ. Epidemiological survey of chronic obstructive pulmonary disease and alpha-1-deficiency in China. Respirology 2001; 6 (Suppl.): S13-S15.
13. Chen X, Cheng X, Li J. Changes of serum elastase, alpha 1-antitrypsin, procollagen III peptide and malonaldehyde in smokers with and without chronic obstructive pulmonary diseases. Zhonghua Nei Ke Za Zhi 1999; 38: 178-80 (in Chinese).
14. Zhang CX, Ma ZS, Zhang DT, Liu KK, Liu Y. The changes of alpha1-AT in COPD and lung cancer. J. Chin. Med. University 1990; 19: 449-50 (in Chinese).
15. Huo JM, Shi YZ, Liu XHYuSH, Zhang GY, The phenotype and content of alpha AT in patients with COPD. J. Harbin Med. University 1990; 24: 246-8 (in Chinese).
16. Lam CW, Pang CP, Poon PM, Yin CH, Bharathi G. Rapid screening for alpha1-antitrypsin Z and S mutations. Clin. Chem. 1997; 43: 403-4.
17. Jeppsson JO, Einarsson R. Genetic variants of alpha 1-antitrypsin and hemoglobin typed by isoelectric focusing in preselected narrow pH gradients with PhastSystem. Clin. Chem. 1992; 38: 577-80.
18. Pauwels RA, Buist AS, Calverley PM, Jenkins CR, Hurd SS; GOLD Scientific Committee, Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease, NHLBI/WHO Global Initiative for Chronic Obstructive Lung Disease (GOLD) Workshop summary. Am. J. Respir. Crit. Care Med. 2001; 163: 1256-76.
19. Fagerhol MK, Cox DW. The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin. Adv. Hum. Genet. 1981; 11: 1-62.
20. Gadek JE, Hunninghake GW, Fells GA, Zimmerman R, Keogh BA, Crystal RG. Evaluation of the protease-antiprotease theory of human destructive lung disease, Bull. Eur. Physiopathol. Respir. 1980; 16 (Suppl.): 27-40.
21. Olsen GN, Harris JO, Castle JR, Waldman RH, Karmgard HJ. Alpha-1-antitrypsin content in the serum, alveolar macrophages, and alveolar lavage fluid of smoking and nonsmoking normal subjects. J. Clin. Invest. 1975; 55: 427-30.
22. Sifers RN, Brashears-Macatee S, Kidd VJ, Muensch H, Woo SL. A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J. Biol. Chem. 1988; 263: 7330-5.
23. Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. Am. J. Hum. Genet. 1990; 46: 602-12.
24. Seyama K, Nukiwa T, Takabe K, Takahashi H, Miyake K, Kira S. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. J. Biol. Chem. 1991; 266: 12 627-32.
25. Takabe K, Seyama K, Shinada H et al. A new variant of alpha-1-antitrypsin deficiency (Siiyama) associated with pulmonary emphysema. Intern. Med. 1992; 31: 702-7.
26. Yuasa I, Suenaga K, Gotoh Y, Ito K, Yokoyama N, Okada K. PI (alpha 1-antitrypsin) polymorphism in the Japanese confirmation of PI*M4 and description of new PI variants. Hum. Genet. 1984; 67: 209-12.
27. Yuasa I, Sugimoto Y, Ichinose M et al. PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. Jpn. J. Hum. Genet. 1993; 38: 185-91.
28. Kamboh MI, Kirk RL, Clark P. Alpha-1-antitrypsin (PI) types in Asian, Pacific and aboriginal Australian populations. Dis. Markers 1983; 1: 33-42.
29. Saha N. Alpha 1-protease inhibitor (PI) subtypes in seven populations of east Asia. Ann. Hum. Biol. 1990; 17: 229-34.
30. Shim YS. Epidemiological survey of chronic obstructive pulmonary disease and alpha-1 antitrypsin deficiency in Korea. Respirology 2001; 6 (Suppl.): S9-S11.
31. Turino GM, Barker AF, Brantly ML et al. Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Am. J. Respir. Crit. Care Med. 1996; 154: 1718-25.
32. Bartmann K, Fooke-Achterrath M, Koch G et al. Heterozygosity in the Pi-system as a pathogenetic cofactor in chronic obstructive pulmonary disease (COPD). Eur. J. Respir. Dis. 1985; 66: 284-96.
33. Mittman C, Lieberman J, Rumsfeld J. Prevalence of abnormal protease inhibitor phenotypes in patients with chronic obstructive lung disease. Am. Rev. Respir. Dis. 1974; 109: 295-6.
34. Cox DW, Hoeppner VH, Levison H. Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy. Am. Rev. Respir. Dis. 1976; 113: 601-6.
35. Janus ED. Alpha 1-antitrypsin Pi types in COPD patients. Chest 1988; 94: 446-7.
36. 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: 336-42.
37. Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest 1986; 89: 370-3.
38. Buist AS, Sexton GJ, Azzam AM, Adams BE. Pulmonary function in heterozygotes for alpha,-antitrypsin deficiency: a case-control study. Am. Rev. Respir. Dis. 1979; 120: 759-66.
39. Chan-Yeung M, Ashley MJ, Corey P, Maledy H. Pi phenotypes and the prevalence of chest symptoms and lung function abnormalities in workers employed in dusty industris. Am. Rev. Respir. Dis. 1978; 117: 239-45.
40. Cole RB, Nevin NC, Blundell G, Merrett JD, McDonald JR, Johnston WP. 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 1976; 31: 149-57.
41. Lebowitz MD, Knudson RJ, Morse JO, Armet D. Closing volume and flow volume abnormalities in alpha (1)-antitrypsin phenotype groups in a community population. Am. Rev. Respir. Dis. 1978; 117: 179-81.
42. Morse JO, Lebowitz MD, Knudson RJ, Burrows B. Relation of protease inhibitor phenotypes to obstructive lung diseases in a community. N. Engl. J. Med. 1977; 296: 1190-4.
43. Webb DR, Hyde RW, Schwartz RH, Hall WJ, Condemi JJ, Townes PL. Serum alpha 1-antitrypsin variants. Prevalence and clinical spirometry. Am. Rev. Respir. Dis. 1973; 108: 918-25.
44. Blanco I, Fernandez E, Bustillo EF. Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys. Clin. Genet. 2001; 60: 31-41.
45. Massi G, Chiarelli C. Alpha 1-antitrypsin molecular structure and the Pi system. Acta Paediatr. Suppl. 1994; 393: 1-4.
46. Seyama K. State of alpha1-antitrypsin deficiency in Japan. Respirology 2001; 6 (Suppl.): S35-S38.
47. Anonymous. Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency. Am. Thoracic Soc. Am. Rev. Respir. Dis. 1989; 140: 1494-7.
48. Stoller JK. Clinical features and natural history of severe alpha 1-antitrypsin deficiency. Roger S. Mitchell Lecture. Chest 1997; 111: 123S-128S.
49. Campbell EJ. Alpha1-antitrypsin deficiency: incidence and detection program. Respir. Med. 2000; 94 (Suppl. C): S18-S21.