The Association of Transforming Growth Factor Beta 1 Gene Polymorphisms with the Emphysema Phenotype of COPD in Japanese
スポンサーリンク
概要
- 論文の詳細を見る
Objective The transforming growth factor beta-1 gene (TGFB1) is one of the most promising candidate genes for chronic obstructive pulmonary disease (COPD). Several case-control studies have been performed and generated inconsistent results. The possible reasons for these discrepancies include the diversity of ethnic populations and the heterogeneity of COPD, including emphysema and airway disease. We designed this study to investigate the association of single nucleotide polymorphisms (SNPs) of TGFB1 with the emphysema phenotype in the Japanese population. Methods Eight SNPs in TGFB1 (rs2241712, rs1982072, and rs1800469 in the promoter region; rs1982073 in exon 1; rs2241716 and rs4803455 in intron 2; rs6957 and rs2241718 in the 3' region) were genotyped by allelic discrimination assays in 70 COPD patients with emphysema phenotype and 99 healthy smokers. The emphysema phenotype was identified by high-resolution computed tomography imaging using Goddard's method. Results The frequency of one significant haplotype structured by the eight SNPs was significantly higher in the emphysema group (10%) than in the healthy smokers (4%, p=0.02). In the emphysema group, the predicted value of forced expiratory volume in 1 second after bronchodilator administration was significantly associated with the minor alleles of the two SNPs (rs1800469 and rs1982073, p=0.007 and 0.032, respectively), however, the low attenuation area and carbon monoxide diffusing capacity were not associated with the SNPs. In addition, the rs1800469T and rs1982073C alleles were significantly more prevalent in patients with severe and very severe airflow limitation than in those with mild and moderate airflow limitation (p=0.007 and 0.041, respectively). Conclusions One significant haplotype of TGFB1 is associated with the emphysema phenotype in the Japanese population. Two TGFB1 SNPs (rs1800469 and rs1982073) are associated with the severity of COPD in patients with emphysema phenotype.
- 社団法人 日本内科学会の論文
著者
-
Hanaoka Masayuki
The First Department of Internal Medicine, Shinshu University School of Medicine
-
Ota Masao
Department Of Legal Medicine Shinshu University School Of Medicine
-
Fujimoto Keisaku
The First Department Of Internal Medicine Shinshu University
-
Katsuyama Yoshihiko
Department of Hospital Pharmacy
-
Hanaoka Masayuki
The First Department of Medicine, Shinshu University School of Medicine
-
Droma Yunden
The First Department of Medicine, Shinshu University School of Medicine
-
Fujimoto Keisaku
The First Department of Medicine, Shinshu University School of Medicine
-
Ito Michiko
The First Department of Medicine, Shinshu University School of Medicine
-
Hatayama Orie
The First Department of Medicine, Shinshu University School of Medicine
-
Sato Etsuro
Department of Medicine, Shinmachi Hospital
関連論文
- Evaluation of Respiratory Impedance in Asthma and COPD by an Impulse Oscillation System
- Evaluation of Respiratory Impedance in Asthma and COPD by an Impulse Oscillation System
- A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients
- Mitochondrial DNA Diversity among Three Subpopulations of Cynomolgus Macaques (Macaca fascicularis) Originating from the Indochinese Region
- Acute Hypoxic Pulmonary Vascular Response Does Not Accompany Plasma Endothelin-1 Elevation in Subjects Susceptible to High Altitude Pulmonary Edema
- Effect of Prone Position on Apnea Severity in Obstructive Sleep Apnea
- Preparation and Characteristics of Antibacterial Sepiolite Containing Povidone-Iodine as a Useful Pharmaceutical Product for Patient Care
- Study of the pharmacokinetics of vancomycin in patients with impaired liver function
- Successful Treatment of Fungus Ball in a Patient with Allergic Bronchopulmonary Aspergillosis: Continuous Percutaneous Instillation of Antifungal Agents into the Cavity
- Intestinal Diffuse Large B-Cell Lymphoma Associated with Celiac Disease : A Japanese Case
- Polymyxin B-immobilized Fiber Column Hemoperfusion Treatment for Drug-Induced Severe Respiratory Failure: Report of Three Cases
- Genetic Association Analysis using Microsatellite Markers in Atopic Dermatitis
- Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients
- Association of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with type 1 autoimmune hepatitis in Japanese
- A Novel Immunoglobulin-Immunoglobulin Interaction in Autoimmunity
- TT virus infection in an area of high-endemicity for hepatitis C
- Monozygotic twins concordant for intestinal Behcet's disease
- Improvements in Thoracic Movement Following Lung Volume Reduction Surgery in Patients with Severe Emphysema
- Malignant Hepatic Epithelioid Hemangioendothelioma with Rapid Progression and Fatal Outcome
- Tacrolimus Related Brady and Tachyarrhythmias in a Familial Amyloid Polyneuropathy Patient who Underwent Partial Liver Transplantation
- Tacrolimus Related Brady and Tachyarrhythmias in a Familial Amyloid Polyneuropathy Patient who Underwent Partial Liver Transplantation
- Validation of sensitive human leukocyte antigen-sequence-specific primer and probe typing in forensic DNA examination
- Hepatic portal venous gas on postmortem CT scan
- Case of shaken baby syndrome in Japan caused by shaking alone
- Multiplex short tandem repeat typing in degraded samples using newly designed primers for the TH01, TPOX, CSF1PO, and vWA loci
- Investigation of ACTBP2 mutations in the Japanese population
- D1S80 subtyping by PCR-RFLP : new nomenclature and further characterization
- The judgement of a gunshot wound with severe post-mortem changes
- Rh式Del型抗原量の検討〔英文〕
- Gradual Progression of Interstitial Pneumonia Induced by Bepridil
- Successful Salvage Therapy of Irinotecan for Relapsed Hodgkin's Lymphoma
- Rhabdomyolysis Triggered by an Asthmatic Attack in a Patient with McArdle Disease
- Bronchoscopic Microsampling for Bacterial Colony Counting in Relevant Lesions in Patients with Pulmonary Mycobacterium avium Complex Infection
- A Rare Case of a Tracheal Fibroepithelial Polyp Treated by an Endobronchial Resection
- Pleomorphic Adenoma with an Endobronchial Resection
- Nocturnal Oxygen Desaturation as a Predictive Risk Factor for Coronary Restenosis After Coronary Intervention : Serial Quantitative Coronary Angiography Study
- Clinical significance of immunoglobulin G4-associated autoimmune hepatitis
- Genetic background of autoimmune hepatitis in Japan
- Effects of Muscle Relaxation Therapy Using Specially Designed Plates in Patients with Pulmonary Emphysema
- A Case of Organizing Pneumonia Induced by Tocilizumab
- HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic pulmonary hypertension in the absence of deep vein thrombosis
- Complex divergence at a microsatellite marker C1_2_5 in the lineage of HLA-Cw/-B haplotype
- Synchronous Gastrointestinal Stromal Tumor and Primary Lung Adenocarcinoma
- Myocardial Performance Index in Subjects Susceptible to High-Altitude Pulmonary Edema
- Two Siblings with Type 1 Autoimmune Pancreatitis
- IgG4-Related Airway Involvement Which Developed in a Patient Receiving Corticosteroid Therapy for Autoimmune Pancreatitis
- Mediastinal Seminoma in a Patient with Multiple Endocrine Neoplasia Type 1
- Mechanical Ventilation in Patients with Hypoxemia due to Refractory Heart Failure
- Primary Malignant Sarcomatoid Mesothelioma in the Pericardium
- Lymphoid Interstitial Pneumonia Associated with Common Variable Immunoglobulin Deficiency
- IgG4-associated Multifocal Systemic Fibrosis Complicating Sclerosing Sialadenitis, Hypophysitis, and Retroperitoneal Fibrosis, but Lacking Pancreatic Involvement
- The Association of Transforming Growth Factor Beta 1 Gene Polymorphisms with the Emphysema Phenotype of COPD in Japanese
- Successful Salvage Therapy of Irinotecan for Relapsed Hodgkin's Lymphoma.
- Gene dosage effect on Rh blood group antigens observed in erythrocytes heterozygous for Rh-29(r=,...) gene.
- Primary Tracheal Adenoid Cystic Carcinoma with Malignant Pleural Effusion
- Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases.:A Report of Two Family Cases
- Serum chemokine levels are associated with the outcome of pegylated interferon and ribavirin therapy in patients with chronic hepatitis C
- Cytokine profiles affecting the pathogenesis of autoimmune hepatitis in Japanese patients
- Late-onset Rejection of a Unilateral Donor Lung with Vascular C4d Deposition in Bilateral Living-donor Lobar Lung Transplantation: An Autopsy Case Report