Genetics of COPD.

Genetics of COPD. Annu Rev Physiol. 2019 Nov 15;: Authors: Silverman EK Abstract Although chronic obstructive pulmonary disease (COPD) risk is strongly influenced by cigarette smoking, genetic factors are also important determinants of COPD. In addition to Mendelian syndromes such as alpha-1 antitrypsin deficiency, many genomic regions that influence COPD susceptibility have been identified in genome-wide association studies. Similarly, multiple genomic regions associated with COPD-related phenotypes, such as quantitative emphysema measures, have been found. Identifying the functional variants and key genes within these association regions remains a major challenge. However, newly identified COPD susceptibility genes are already providing novel insights into COPD pathogenesis. Network-based approaches that leverage these genetic discoveries have the potential to assist in decoding the complex genetic architecture of COPD. Expected final online publication date for the Annual Review of Physiology, Volume 82 is February 10, 2020. Please see for revised estimates. PMID: 31730394 [PubMed - as supplied by publisher]
Source: Annual Review of Physiology - Category: Physiology Authors: Tags: Annu Rev Physiol Source Type: research

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Authors: Kueppers F Abstract Alpha 1 antitrypsin deficiency (AATD) is a rarely diagnosed hereditary condition characterized by low alpha 1 antitrypsin (AAT) levels, which can lead to early-onset emphysema due to accelerated degradation of lung tissue. Similar to C-reactive protein (CRP), AAT is an acute phase reactant, meaning that blood levels rise in response to inflammation, injury or infection. Testing AAT levels is essential in the diagnosis of AATD; however, the presence of inflammation at the time of AATD testing can provide a false 'normal' level reading of the patient's baseline AAT levels. Researchers fro...
Source: COPD: Journal of Chronic Obstructive Pulmonary Disease - Category: Respiratory Medicine Tags: COPD Source Type: research
Authors: Miravitlles M, Nuñez A, Torres-Durán M, Casas-Maldonado F, Rodríguez-Hermosa JL, López-Campos JL, Calle M, Rodríguez E, Esquinas C, Barrecheguren M Abstract Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed disease that is associated with the development of liver disease in adults and children and pulmonary emphysema in adults. Several studies have shown that there is limited knowledge about the disease and its diagnosis among health care providers, and there is an important inequity in the access to specialized care and appropriate treatment across Europ...
Source: COPD: Journal of Chronic Obstructive Pulmonary Disease - Category: Respiratory Medicine Tags: COPD Source Type: research
Alpha-1 antitrypsin deficiency (AATD) was the first genetic risk factor for chronic obstructive pulmonary disease (COPD) described. In the more than 50  years since its description, the disease continues to provide insights into more common forms of COPD. Although AATD is caused by a single genetic variant, the clinical manifestations of disease include panacinar emphysema, airway hyperresponsiveness, and bronchiectasis. With improved molecular un derstanding of the mechanisms of disease pathogenesis and progression, new therapies in addition to intravenous augmentation therapy are on the horizon.
Source: Clinics in Chest Medicine - Category: Respiratory Medicine Authors: Source Type: research
Conclusion: Quantitative SPECT/CT is useful in pre-surgical evaluation or radiation treatment planning of patients with pulmonary nodule or lung mass. Larger sample size of patients with underlying emphysema is needed to further evaluate the utility of this technique. We recommend Quantitative perfusion SPECT/CT for lobar assessment than traditional regional quantitative perfusion prior to surgery.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Infection/Pulmonary/Outcomes (Poster Session) Source Type: research
α1-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary emphysema, and other chronic respiratory disorders (mainly asthma and bronchiectasis); Z variant is the commonest deficient variant of AAT. Determining AAT concentration in serum or plasma and identifying allelic variants by phenotyping or genotyping are fundamental in the diagnosis of AATD. Initial evaluation and annual follow-up measurement of lung function, including post-bronchodilator forced expiratory volume in 1 s and gas transfer inform on disease progression. Lung densitometry is th...
Source: European Respiratory Review - Category: Respiratory Medicine Authors: Tags: COPD and smoking, Genetics Review Source Type: research
Rationale: Alpha-1 Antitrypsin Deficiency (AATD) is a rare genetic disease that can lead to the emphysema. Evidence suggests that small airways (SA) disease precedes emphysema. We compared traditional lung function and SA tests to CT evidence of emphysema in AATD subjects with mild or no COPD.Methods: 70 non-smokers with severe (PiZZ) AATD underwent lung function testing and high resolution CT (HRCT) scan. They were categorised based on HRCT data (Gevenois, P.A., et al. ERJ 1995; 5: 843–848); No emphysema (PD15> -910HU, n=16), microscopic emphysema (PD15 -950 to -910HU, n=48) and macroscopic emphysema (PD15
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Respiratory function technologists/scient. Source Type: research
α1-Antitrypsin deficiency (AATD) is a genetic disorder that predisposes to the development of early pulmonary emphysema, especially in smokers. Episodes of exacerbations are frequent in patients with emphysema due to AATD and are associated with a deficient antiprotease screen in the airways compared with that of non-deficient COPD patients [1]. As a consequence, exacerbations have great impact on the evolution of the lung disease in AATD, measured in terms of decline in gas transfer [2], in health status [2, 3], and in lung function over time [4, 5].
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research
This study included 9,053 Japanese participants (male 2,962; female 6,091), in whom 7,525 (male 2,397; female 5,128) were included in the longitudinal analysis. The change in FEV1 was calculated by dividing the difference between the baseline and follow-up by follow-up periods (years). The change in FEV1 was categorized into two groups: rapid decline (change in FEV1
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical Problems Source Type: research
We report on the 6 &12-month results of the AATD arm of the EMPROVE study.20 AATD subjects on optimal medical management with hyperinflation, severe dyspnea were treated with SVS valves at 12 centers. Target lobe selection was done using high resolution computed tomography. Targeted lobe was a lower lobe in 85% and an upper lobe in 15% of patients.A mean of 4.4 valves per patient were used to isolate the target lobe, with an average procedure time of 20 minutes. Results are presented as baseline and mean changes in FEV1, Target Lobe Volume (TLV), disease specific quality of life measures – St. George’s Resp...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Interventional pulmonology Source Type: research
Conclusion: Serum concentration and alleleic conformation of SFTPD has a significantly high predictive value for COPD and AECOPD. Thus, these can be tested further and could be applied as a predictive or prognostic marker. Introduction Chronic Obstructive Pulmonary Disease (COPD) affects lungs and exhibits irreversible airflow conditions that leads to improper respiratory function (Carolan et al., 2014). COPD is a global disease burden which accounts for ~3 million deaths annually (Zemans et al., 2017) and is responsible for the increase in worldwide mortality and morbidity (Dickens et al., 2011). Chronic Obstructi...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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