BACKGROUND: Alpha-1-antitrypsin (A1AT) deficiency is the only established genetic resk factor for emphysema. This study was undertaken to investigate the prevalence of the genotypes of A1AT genotypes in healthy Koreans. METHOD: The study population consisted of 380 healthy Koreans enrolled at the Health Promotion Center in Kyungpook National University Hospital. The polymerase chain reaction (PCR) and restriction fragment length polymorphim (RFLP) for detecting the A1AT variants M1(Ala), M1(Val), M2, S and Z were used. RESULTS: The genotypes of subjects were as follows : M1(Val)/M1(Val), 254(66.8%) ; M1(Val)/M2, 105(27.6%) ; M2/M2, 19 (5.0%) ; and M1(Val)/M1(Ala), 2 (0.5%). There was no case with 'deficiency' alleles such as S and Z found in this study. CONCLUSION: These results suggest that A1AT deficient alleles are either extremely rare or not present in Koreans.
Alleles ; Emphysema ; Genotype* ; Gyeongsangbuk-do ; Health Promotion ; Polymerase Chain Reaction ; Prevalence*

BACKGROUND: In patients with chronic obstructive pulmonary disease(COPD), several factors have been associated with a poor prognosis. These include old age, low FEV, low diffusing capacity, high alveolar-arterial oxygen pressure difference, and finally cor pulmonale. This study was done to investigate in the ECG signs suggesting cor pulmonale were independent prognostic factors in patients with COPD. METHOD: We analyzed ECG, pulmonary function data and arterial blood gas values in 61 patients who were admitted through the emergency department with an acute exacerbation of COPD. The ECG signs reflecting cor pulmonale were right atrial overloading(RAO), right bundle branch block, right ventricular hypertrophy and low-voltage QRS. The 61 patients were divided into 2 groups, group I with no ECG signs(n=36) and group II with one or more ECG signs(n=25) suggesting cor pulmonale. RESULTS: Poor prognostic factors by univariate analysis were low FEV1, FEV1 % pred., VC% pred., DLco, DLco % pred., PaO2 and SaO2 high PaCO2 presence of ECG signs reflecting cor pulmonale, presence of mental status change, use of mechanical ventilator, and long tern use of glucocorticoid. A multivariate analysis indicated that age(risk ratio=1.13, 95% confidence interval 1.05~1.23), Dlco % pred. (risk ratio=0.97, 95% confidence interval 0.94~0.99), PaO2 (risk ratio=0.95, 95% confidence interval 0.90~0.99) and RAO(risk ratio=5.27, 95% confidence interval 1.40~19.85) were independent prognostic factors of survival. There was a significant difference in survival between the patients with and without RAO(p=0.038). The survival rates at 1, 2, and 5 years were 94.5%. 81.4%, and 50.0% in patients without RAO and 82.4%, 70.6%, and 27.5% in patients with RAO, respectively. CONCLUSION: These results suggest that the presence of ECG signs reflecting cor pulmonale is a predictor of survival and that RAO of these ECG signs is a significant independent predictor of survival in patients with COPD.
Animals ; Bundle-Branch Block ; Charadriiformes ; Electrocardiography* ; Emergency Service, Hospital ; Humans ; Hypertrophy, Right Ventricular ; Multivariate Analysis ; Oxygen ; Prognosis ; Pulmonary Disease, Chronic Obstructive* ; Pulmonary Heart Disease* ; Survival Rate ; Ventilators, Mechanical

BACKGROUND: Lung cancer is frequently cited as an example of a disease caused solely by exposure to environmental caricinogens. However, there is a growing realization that the genetic constitution is also important in determining individual's susceptibility to lung cancer. This genetic susceptibility may result from functional polymorphims of the genes involved in carcinogen metabolism. In this study, the association between GSTM1 and CYP1A1 polymorphisms and the lung cancer risk in Korean males was investigated. MATERIALS AND METHOD: The study population consisted of 153 male lung cancer patients and 143 healthy male controls. The GSTM1 and CYP1A1 genotypes were determined by multiplex PCR and PCR-RELP analysis. RESULT: The were no significant differences in the frequency of the GSTM1 null genotype between the cases and the controls. When the cases were categorized by their histologic type, the frequency of the GSTM1 null genotype in the small cell carcinoma group was higher than those of the controls(67.2% vs 55.9%), but the difference was not statistically significant(OR=1.772 ; 95% CI=0.723-4.340). The distribution of the CYP1A1 MspI genotypes among the cases were similar to those among the controls. When the cases were grouped by their histologic type, the m1/m1, m1/m2, m2/m2 genotypes frequencies among the small cell carcinomas(23.0%, 38.5%, and 38.5%, respectively) were significantly different from those of the controls(36.4%, 46.2%, and 17.4%, respectively, p<0.05). When the m1/m1 genotype was used as a reference, the m1/m2 and m2/m2 genotypes were associated with an increased risk for small cell lung cancer(m1/m2 genotype : OR=1.337, 95% CI=0.453-3.947 ; m2/m2 genotype : OR=3.374, 95% CI=1.092-10.421). CONCLUSION: These results suggest that the GSTM1 and CYP1A1 genotypes may be a genetic determinant of the risk for lung cancer, particlulary small cell carcinoma. Further investigation is needed to confirm these results.
Carcinoma, Small Cell ; Constitution and Bylaws ; Cytochrome P-450 CYP1A1* ; Genetic Predisposition to Disease ; Genotype ; Humans ; Lung Neoplasms* ; Lung* ; Male* ; Metabolism ; Multiplex Polymerase Chain Reaction

BACKGROUND: Non-small lung cancer(NSCLC) develops as a result of the accumulation of multiple genetic abnormalities. Loss of heterozygosity(LOH) is one of the most frequent genetic alterations that is found in NSCLC, and the chromosomal regions that display a high rate of LOH are though to harbor tumor suppressor genes(TSGs). This study was done to determine the frequency of LOH in 21q with the aim of identifying potential TSG loci. METHOD: Thirty-nine surgically resected NSCLCs were analysed. Patietns peripheral lymphocytes were used as the source of the normal DNA. Five microsatellite markers of 21q were used to study LOH : 21q21.1(D21S1432, and D21S1994) ; 21q21.2-21.3(D21S1442) ; 21q22.1(21S1445) ; and 21q22.2-22.3(D21S266). The fractional allelic loss(FAL) in a tumor was calculated as the ratio of the number of markers showing LOH to the number of informative markers. RESULT: LOH for at least one locus was detected in 21 of 39 tumors(53.8%). Among the 21 tumors with LOH, 5(21.8%) showed LOH at almost all informative loci. Although statistically not significant, LOH was found more frequently in squamous cell carcinomas(15 of 23, 65.2%) than in adenocarcinomas(6 of 16, 37.5%). In the squamous cell carcinomas the frequency of LOH was higher in stage II-III (80.0%) than in stage I (53.8%). The FAL value in squamous cell carcinomas(0.431±0.375) was significantly higher than that found in adenocarcinomas(0.192±0.276). CONCLUSION: These results suggest that LOH on 21q may be involved in the development of NSCLC, and that TSG(s) that contribute to the pathogenesis of NSCLC may exist on 21q.
Arm* ; Carcinoma, Non-Small-Cell Lung* ; Carcinoma, Squamous Cell ; Chromosomes, Human, Pair 21* ; DNA ; Loss of Heterozygosity* ; Lung ; Lymphocytes ; Microsatellite Repeats

This study was performed to assist in the prediction of the clinical tolerance of patients with lung cancer to irradiation. MATERIALS AND METHODS: The changes in lung function of 26 patients with lung carcinomas, who had received radiation with curative intent, or postoperative adjuvant radiotherapy, were prospectively studied. Their pulmonary function tests were conducted at presentation, and then at 2 weeks, 2 months, and 6 months, following radiotherapy. RESULTS: When the parameters of postirradiation pulmonary functions (2 weeks, 2 months and 6 months) were compared with the preirradiation baseline data, there was a statistically significant decrease in FEF25~75% at 2 months, but the rest of the parameters showed no significant change following irradiation. However, when the baseline lung function was compared with the lung function at the lowest FVC, in patients with curative radiotherapy, there was a statistically significant decrease of about 10% in the FEV1 and DLCO. CONCLUSION: Preirradiation assessment of pulmonary functions, particularly the FEV1 and DLCO will be useful for the prediction of the clinical tolerance to irradiation.
Humans ; Lung Neoplasms* ; Lung* ; Prospective Studies ; Radiotherapy ; Radiotherapy, Adjuvant ; Respiratory Function Tests