바로가기메뉴

본문 바로가기 주메뉴 바로가기

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

Tuberculosis & Respiratory Diseases / Tuberculosis & Respiratory Diseases,
2008, v.65 no.4, pp.285-291









  • Downloaded
  • Viewed

Abstract

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.

keywords
SERPINA1 gene, Polymorphism, COPD

Reference

1.

Sethi JM, (2000) Smoking and chronic obstructive pulmonary disease, Clin Chest Med

2.

Barnes PJ, (1999) Genetics and pulmonary medicine. 9. Molecular genetics of chronic obstructive pulmonary disease, Thorax

3.

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

4.

Sandford AJ, (2000) Genetic risk factors for chronic obstructive pulmonary disease, Clin Chest Med

5.

Hersh CP, (2005) Chapter 10. Chronic obstructive pulmonary disease. In Respiratory genetics, Edward Arnold Publishers

6.

Travis J, (1983) Human plasma proteinase inhibitors, Annu Rev Biochem

7.

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

8.

Crystal RG, (1990) α1-antitrypsin deficiency, emphysema and liver disease: genetic basis and strategies for therapy, J Clin Invest

9.

Fagerhol MK, (1970) The Pi system-inherited variants of serum alpha 1-antitrypsin, Prog Med Genet

10.

Mittman C, (1973) Alpha 1-antitrypsin deficiency as an indicator of susceptibility to pulmonary disease, J Occup Med

11.

(1997) α1-antitrypsin deficiency: memorandum from a WHO meeting, Bull World Health Organ

12.

Crystal RG, (1989) The α1-antitrypsin gene and its mutations: clinical consequences and strategies for therapy, Chest

13.

Gaillard MC, (1992) Alpha-1-protease inhibitor in bronchial asthma: phenotypes and biochemical characteristics, Am Rev Respir Dis

14.

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

15.

Rieger S, (1999) Multiplex PCR assay for the detection of genetic variants of α1-antitrypsin, Clin Chem

16.

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

17.

Lucotte G, (1999) Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay, Mol Cell Probes

18.

Park JY, (2001) Prevalence of α1-antitrypsin genotypes in Koreans, Tuber Respir Dis

19.

Silverman EK, (1996) Risk factors for the development of chronic obstructive pulmonary disease, Med Clin North Am

20.

Silverman EK, (2002) Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease, Am J Hum Genet

21.

Vineis P, (1997) Molecular epidemiology: low-dose carcinogens and genetic susceptibility, Int J Cancer

22.

Nakachi K, (1991) Genetic susceptibility to squamous cell carcinoma of the lung in relation to cigarette smoking dose, Cancer Res

23.

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

24.

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

25.

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

26.

Lieberman J, (1986) Alpha 1-antitrypsin Pi-types in 965 COPD patients, Chest

Tuberculosis & Respiratory Diseases