Background: We conducted a case-control study to evaluate the potential association between SERPINA1 genotypes (M1Val, M1Ala, 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.
Sethi JM, (2000) Smoking and chronic obstructive pulmonary disease, Clin Chest Med
Barnes PJ, (1999) Genetics and pulmonary medicine. 9. Molecular genetics of chronic obstructive pulmonary disease, Thorax
Silverman EK, (1998) 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
Sandford AJ, (2000) Genetic risk factors for chronic obstructive pulmonary disease, Clin Chest Med
Hersh CP, (2005) Chapter 10. Chronic obstructive pulmonary disease. In Respiratory genetics, Edward Arnold Publishers
Travis J, (1983) Human plasma proteinase inhibitors, Annu Rev Biochem
Brantly ML, (1988) Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms, Am Rev Respir Dis
Crystal RG, (1990) α1-antitrypsin deficiency, emphysema and liver disease: genetic basis and strategies for therapy, J Clin Invest
Fagerhol MK, (1970) The Pi system-inherited variants of serum alpha 1-antitrypsin, Prog Med Genet
Mittman C, (1973) Alpha 1-antitrypsin deficiency as an indicator of susceptibility to pulmonary disease, J Occup Med
(1997) α1-antitrypsin deficiency: memorandum from a WHO meeting, Bull World Health Organ
Crystal RG, (1989) The α1-antitrypsin gene and its mutations: clinical consequences and strategies for therapy, Chest
Gaillard MC, (1992) Alpha-1-protease inhibitor in bronchial asthma: phenotypes and biochemical characteristics, Am Rev Respir Dis
Gaillard MC, (1994) 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
Rieger S, (1999) Multiplex PCR assay for the detection of genetic variants of α1-antitrypsin, Clin Chem
Pauwels RA, (2001) 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
Lucotte G, (1999) Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay, Mol Cell Probes
Park JY, (2001) Prevalence of α1-antitrypsin genotypes in Koreans, Tuber Respir Dis
Silverman EK, (1996) Risk factors for the development of chronic obstructive pulmonary disease, Med Clin North Am
Silverman EK, (2002) Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease, Am J Hum Genet
Vineis P, (1997) Molecular epidemiology: low-dose carcinogens and genetic susceptibility, Int J Cancer
Nakachi K, (1991) Genetic susceptibility to squamous cell carcinoma of the lung in relation to cigarette smoking dose, Cancer Res
Xu LL, (2001) The NAD(P)H:quinone oxidoreductase 1 gene polymorphism and lung cancer: differential susceptibility based on smoking behavior, Cancer Epidemiol Biomarkers Prev
Billingsley GD, (1993) 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
Rollini P, (1997) 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
Lieberman J, (1986) Alpha 1-antitrypsin Pi-types in 965 COPD patients, Chest