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Polymorphisms in the SERPINA1 Gene and the Risk of Chronic Obstructive Pulmonary Disease in a Korean Population  

Cha, Seung-Ick (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Choi, Jin Eun (Department of Biochemistry, School of Medicine, Kyungpook National University)
Lee, Jong Myung (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Yoo, Seung Soo (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Kim, Chang-Ho (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Lee, Won Kee (Department of Preventive Medicine, School of Medicine, Kyungpook National University)
Jung, Tae-Hoon (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Kim, Nung Soo (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Park, Jae Yong (Department of Internal Medicine, School of Medicine, Kyungpook National University)
Publication Information
Tuberculosis and Respiratory Diseases / v.65, no.4, 2008 , pp. 285-291 More about this Journal
Abstract
Background: We conducted a case-control study to evaluate the potential association between SERPINA1 genotypes ($M1_{Val}$, $M1_{Ala}$, S, and Z) and the risk COPD. Methods: The study population consisted of 93 patients with COPD and 112 healthy controls. The polymerase chain reaction and restriction fragment length polymorphism for detecting the SERPINA1 variants. Results: The M2 allele of the SERPINA1 gene was significantly associated with the risk of COPD in Koreans. The effect of the M2 allele on the risk of COPD was more pronounced in the subgroup<64 years. Conclusion: These results suggest that SERPINA1 polymorphisms may contribute to a genetic predisposition for COPD. However, additional studies with larger sample sizes are required to confirm our findings.
Keywords
SERPINA1 gene; Polymorphism; COPD;
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1 Travis J, Salvesen GS. Human plasma proteinase inhibitors. Annu Rev Biochem 1983;52:655-709.   DOI   ScienceOn
2 ${\alpha}$1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997;75:397-415.
3 Gaillard MC, Kilroe-Smith TA, Nogueira C, Dunn D, Jenkins T, Fine B, et al. Alpha-1-protease inhibitor in bronchial asthma: phenotypes and biochemical characteristics. Am Rev Respir Dis 1992;145:1311-5.   DOI   ScienceOn
4 Gaillard MC, Zwi S, Nogueira CM, Ludewick H, Feldman C, Frankel A, et al. Ethnic differences in the occurrence of the M1(ala213) haplotype of alpha-1-antitrypsin in asthmatic and non-asthmatic black and white South Africans. Clin Genet 1994;45:122-7.   DOI   ScienceOn
5 Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, et al. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet 2002;70:1229-39.   DOI   ScienceOn
6 Billingsley GD, Walter MA, Hammond GL, Cox DW. Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32.1. Am J Hum Genet 1993;52:343-53.
7 Park JY, Choi JE, Cha SI, Bae NC, Chae PH, Lee JY, et al. Prevalence of ${\alpha}$1-antitrypsin genotypes in Koreans. Tuber Respir Dis 2001;50:229-35.   DOI
8 Barnes PJ. Genetics and pulmonary medicine. 9. Molecular genetics of chronic obstructive pulmonary disease. Thorax 1999;54:245-52.   DOI   ScienceOn
9 Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988;138:327-36.   DOI   ScienceOn
10 Xu LL, Wain JC, Miller DP, Thurston SW, Su L, Lynch TJ, et al. The NAD(P)H:quinone oxidoreductase 1 gene polymorphism and lung cancer: differential susceptibility based on smoking behavior. Cancer Epidemiol Biomarkers Prev 2001;10:303-9.
11 Silverman EK, Chapman HA, Drazen JM, Weiss ST, Rosner B, Campbell EJ, et al. 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;157:1770-8.   DOI   ScienceOn
12 Sethi JM, Rochester CL. Smoking and chronic obstructive pulmonary disease. Clin Chest Med 2000;21:67-86.   DOI
13 Pauwels RA, Buist AS, Calverley PM, Jenkins CR, Hurd SS. 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.   DOI   ScienceOn
14 Silverman EK, Speizer FE. Risk factors for the development of chronic obstructive pulmonary disease. Med Clin North Am 1996;80:501-22.   DOI   ScienceOn
15 Sandford AJ, Pare PD. Genetic risk factors for chronic obstructive pulmonary disease. Clin Chest Med 2000;21: 633-43.   DOI
16 Fagerhol MK, Laurell CB. The Pi system-inherited variants of serum alpha 1-antitrypsin. Prog Med Genet 1970;7:96-111.
17 Vineis P. Molecular epidemiology: low-dose carcinogens and genetic susceptibility. Int J Cancer 1997;71:1-3.
18 Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest 1986;89:370-3.   DOI   ScienceOn
19 Crystal RG, Brantly ML, Hubbard RC, Curiel DT, States DJ, Holmes MD. The ${\alpha}$1-antitrypsin gene and its mutations: clinical consequences and strategies for therapy. Chest 1989;95:196-208.   DOI   ScienceOn
20 Rollini P, Fournier RE. A 370-kb cosmid contig of the serpin gene cluster on human chromosome 14q32.1: molecular linkage of the genes encoding alpha 1-antichymotrypsin, protein C inhibitor, kallistatin, alpha 1-antitrypsin, and corticosteroid-binding globulin. Genomics 1997;46:409-15.   DOI   ScienceOn
21 Crystal RG. ${\alpha}$1-antitrypsin deficiency, emphysema and liver disease: genetic basis and strategies for therapy. J Clin Invest 1990;85:1343-52.   DOI   ScienceOn
22 Mittman C, Barbela T, Lieberman J. Alpha 1-antitrypsin deficiency as an indicator of susceptibility to pulmonary disease. J Occup Med 1973;15:33-8.
23 Lucotte G, Sesboue R. Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay. Mol Cell Probes 1999;13:389-91.   DOI   ScienceOn
24 Hersh CP, Demeo DL, Silverman EK. Chapter 10. Chronic obstructive pulmonary disease. In: Silverman EK, Shapiro SD, Lomas DA, Weiss ST, editors. Respiratory genetics. 1st ed. London: Edward Arnold Publishers; 2005. p. 253-96.
25 Rieger S, Riemer H, Mannhalter C. Multiplex PCR assay for the detection of genetic variants of ${\alpha}$1-antitrypsin. Clin Chem 1999;45:688-90.
26 Nakachi K, Imai K, Hayashi S, Watanabe J, Kawajiri K. Genetic susceptibility to squamous cell carcinoma of the lung in relation to cigarette smoking dose. Cancer Res 1991;51:5177-80.