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Chronic obstructive pulmonary disease (COPD) is a slowly progressive disorder characterized by airways obstruction that lasts for at least several months. The two major causes of COPD are chronic bronchitis and emphysema. Either disorder may occur with or without airways obstruction, but airways obstruction causes impairment of lung function leading to disability and death. COPD is a major health problem in the United States and throughout the world, consistently ranking among the most common causes of death in the United States. Cigarette smoking is the primary environmental factor that increases the risk of COPD, but other environmental factors have also been implicated. However, despite a well-established role, environmental factors alone do not cause COPD. Symptomatic COPD develops in only 10-20 percent of heavy cigarette smokers, probably those with a genetic susceptibility, although common COPD susceptibility genes have yet to be identified.
The study applied statistical linkage analysis to family data. Pulmonary measurements had already been collected on 159 members of 16 pedigrees and evidence supporting a COPD susceptibility gene in these pedigrees had been obtained from segregation analysis. Each of 11,995 genetic markers, which had already been genotyped on pedigree members, were tested for evidence of linkage to the inferred COPD susceptibility gene. Evidence of linkage to one or more genetic markers identifed genomic locations of COPD susceptibility genes. The high density of markers allowed fine-mapping of the gene. Successful completion of this gene localization project was the necessary prerequisite for a project to identify and characterize a COPD susceptibility gene. Identifying a gene that when mutated increased the risk of COPD may increase understanding of pulmonary function, as well as allowing gene-carriers to be identified and made aware of their susceptibility.
Observational Model: Defined Population, Observational Model: Natural History
National Heart, Lung, and Blood Institute (NHLBI)
Published on BioPortfolio: 2014-08-27T03:56:05-0400
Interstitial lung diseases (ILD) are a group of diseases affecting the lung interstitium. The lung scarring that occurs in ILD is often irreversible with only mitigating therapy available ...
Disease related biomarkers have been established decades ago, e.g. blood glucose for diabetes diagnosis and management. Their discovery has grown dramatically during the past decade and th...
The study focuses on trefoil family factor (TFF) peptides in sputum in lung diseases. The investigators hypothesize that TFF peptides are upregulated in lung diseases characterized by mucu...
The cause of most interstitial lung diseases (ILDs) is still unknown. Further research, for example to determine predisposing genetic factors, is therefore needed. A database with relevant...
Recognition of disease specific clusters of volatile organic compounds in patients with different lung diseases, using breath analysis with ion mobility spectrometry. Lung diseases of inte...
A possible association between lung cancer and bullous lung disease has been suggested and recently supported by the results of genetic studies.
Lung diseases belong the major causes of death worldwide. Recent innovative methodological developments now allow more and more for the use of primary human tissue and cells to model such diseases. In...
The lung's unique extracellular matrix (ECM), while providing structural support for cells, is critical in the regulation of developmental organogenesis, homeostasis and injury-repair responses. The E...
Lung cancer is one of the deadliest malignancies. The immune checkpoint-blockade (ICB) tumor therapy has led to striking improvement of long-term survival for some lung cancer patients. However, the r...
Lung diseases are increasing in prevalence and overall burden worldwide. To stem the tide, more and more national and international guidelines are recommending the use of various diagnostic algorithms...
A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.
Pathological processes involving any part of the LUNG.
Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.
A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.
Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
COPD (chronic obstructive pulmonary disease)
COPD (chronic obstructive pulmonary disease) is used for a number of conditions including chronic bronchitis and emphysema, which all lead to the airways in the lungs becoming damaged and thus narrower, making inhalation and exhalation harder...
Pulmonary relating to or associated with the lungs eg Asthma, chronic bronchitis, emphysema, COPD, Cystic Fibrosis, Influenza, Lung Cancer, Pneumonia, Pulmonary Arterial Hypertension, Sleep Disorders etc Follow and track Lung Cancer News ...