Analysis of Genetic Contribution in the Development of Chronic Obstructive Pulmonary Disease

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1) TRANSFORMING GROWTH FACTOR BETA 1 GENE POLYMORPHISMS IN EMPHYSEMA PHENOTYPE IN COPDGenetic factors are likely to influence the development of COPD, and the transforming growth factor beta 1 gene (TGFB1) is one of the most probable candidate genes which could be associated with emphysema. Eight single nucleic polymorphisms (SNPs) in the TGFB1 (rs2241712, rs1987072, rs1800469, rs1982073, rs2241716, rs4803455, rs6957 and rs2241718) were genotyped by allelic discrimination assay in seventy COPD patients with emphysema phenotype and ninety nine control smokers among Japanese. The emphysema phenotype was identified on high-resolution computed tomography image by Goddard's method. Two SNPs in the 3' genomic region (rs6957 and rs2241718) were associated with emphysema phenotype after adjusting age, sex, and smoking history. Another two SNPs (rs1800496 and rs1982073) showed significant association with the percentage of forced expiratory volume in 1 second after administration of bronchodila … More tor in the patients with emphysema phenotype. Additionally, the frequency of one haplotype was significantly different between emphysema group and control group. The current study focusing on emphysema phenotype reveals that several SNPs in the TGFB1 are associated with emphysema phenotype in COPD among Japanese population.2) PULMONARY HEMODYNAMICS IN PATIENTS WITH SEVERE COPDTo examine the pulmonary hemodynamics in severe COPD (%FEV_1 < 50%), right heart catheterization was performed in six patients with COPD during rest, exercise and exacerbation. The pulmonary artery pressure (Ppa), as pulmonary artery wedge pressure and cardiac index were significantly increased during bicycle ergometer exercise. In contrast, pulmonary vascular resistance significantly increased during exacerbation accompanied by a slightly increased Ppa. Supplemental oxygen resulted in significant decrease in Ppa during exercise and exacerbation. The principal pathophysiology of the pulmonary circulation between exercise and exacerbation might differ in severe COPD. Supplemental oxygen is beneficial in these situations as reflected by improved pathological pulmonary hypertension. Less