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copd genetics

Alberto Papi, Maria Sandra Magnoni, Carmelo Caio Muzzio, Gianmarco Benso, Andrea Rizzi
The Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE) study was a large 3-year observational multicentre international study aimed at defining COPD phenotypes and identifying biomarkers and/or genetic parameters that help to predict disease progression. The study has contributed to a better understanding of COPD heterogeneity, with the characterization of clinically important subtypes/phenotypes of patients, such as the frequent exacerbators or patient with persistent systemic inflammation, who may have different prognosis or treatment requirements...
October 14, 2016: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
Eitan Halper-Stromberg, Michael H Cho, Carla Wilson, Dipti Nevrekar, James D Crapo, George Washko, Raúl San José Estépar, David A Lynch, Edwin K Silverman, Sonia Leach, Peter J Castaldi
RATIONALE: Automated analysis of computed tomographic (CT) lung images for epidemiologic nand genetic association studies is increasingly common, but little is known about the utility of visual versus semi-automated emphysema and airway assessments for genetic association studies. OBJECTIVES: Assess the relative utility of visual versus semi-automated emphysema and airway assessments for genetic association studies. METHODS: A standardized inspection protocol was used to visually assess chest CTs for 1540 non-Hispanic white subjects within the COPDGene Study for the presence and severity of radiographic features representing airway wall thickness and emphysema...
October 14, 2016: Annals of the American Thoracic Society
Tomasz Szul, Peter Castaldi, Michael H Cho, J Edwin Blalock, Amit Gaggar
In chronic inflammatory lung disorders such as chronic obstructive pulmonary disease (COPD), the concurrent organ-specific and systemic inflammatory responses lead to airway remodelling and vascular dysfunction. Although a major common risk factor for COPD, cigarette smoke alone cannot explain the progression of this disease; there is increasing evidence that genetic predisposition also plays a role in COPD susceptibility and progression. A key enzyme in chronic lung inflammation is leukotriene A4 hydrolase (LTA4H)...
January 2016: ERJ Open Research
J Lorenz, R Bals, R Ewert, B Jany, A R Koczulla, T Köhnlein, W J Randerath, G Steinkamp, H Watz, T Welte
Chronic obstructive pulmonary disease (COPD) is considered to be a complex and heterogeneous disease comprising multiple components. Its clinical presentation, pattern of functional disturbance, disease presentation and pathology varies tremendously between individuals despite the common feature of incompletely reversible airflow obstruction. It is therefore widely accepted that COPD is characterized by discriminable phenotypes that represent specific patterns of these disease features. COPD phenotypes are believed to correlate with outcome parameters such as severity of symptoms, exacerbations, functional loss or death and to require different treatment algorithms...
October 2016: Pneumologie
Vinciane Saint-Criq, Michael A Gray
Salt and fluid absorption and secretion are two processes that are fundamental to epithelial function and whole body fluid homeostasis, and as such are tightly regulated in epithelial tissues. The CFTR anion channel plays a major role in regulating both secretion and absorption in a diverse range of epithelial tissues, including the airways, the GI and reproductive tracts, sweat and salivary glands. It is not surprising then that defects in CFTR function are linked to disease, including life-threatening secretory diarrhoeas, such as cholera, as well as the inherited disease, cystic fibrosis (CF), one of the most common life-limiting genetic diseases in Caucasian populations...
October 6, 2016: Cellular and Molecular Life Sciences: CMLS
Nikolas Bernhard, Robert Bals, Sebastian Fähndrich
Alpha-1-antitrypsin deficiency is a genetic risk factor for the development of chronic obstructive airway disease (COPD) and liver cirrhosis. The disease is widely underdiagnosed. The hallmarks of therapy are smoking cessation, prevention from environmental dust exposure and augmentation therapy. Findings from the recently published prospective, placebo-controlled and randomized RAPID trial proved effectiveness of AAT augmentation therapy for slowing progression of emphysema, measured by CT lung density. CT lung density may be more sensitive than forced exspiratory volume in one second (FEV1) or monoxid diffusion capacity (DLCO)...
September 2016: Deutsche Medizinische Wochenschrift
Clair Hartmann, Sebastian Hafner, Angelika Scheuerle, Peter Möller, Markus Huber-Lang, Birgit Jung, Benedikt Nubaum, Oscar McCook, Michael Gröger, Florian Wagner, Sandra Weber, Bettina Stahl, Enrico Calzia, Michael Georgieff, Csaba Szabó, Rui Wang, Peter Radermacher, Katja Wagner
Pre-traumatic cigarette smoke (CS) exposure aggravates post-traumatic acute lung injury (ALI). Cystathionine-γ-lyase (CSE) protects against ALI and CS exposure-induced chronic obstructive lung disease (COPD). Therefore, we tested the hypothesis whether genetic CSE knockout (CSE) would aggravate post-traumatic ALI after CS exposure. After 3-4 weeks of CS exposure, anesthetized wild type (WT) and CSE mice underwent blunt chest trauma, surgical instrumentation and 4 hours of lung-protective mechanical ventilation...
September 28, 2016: Shock
Adel Boueiz, Sharon M Lutz, Michael H Cho, Craig P Hersh, Russell P Bowler, George R Washko, Eitan Halper-Stromberg, Per Bakke, Amund Gulsvik, Nan M Laird, Terri H Beaty, Harvey O Coxson, James D Crapo, Edwin K Silverman, Peter J Castaldi, Dawn L DeMeo
RATIONALE: Emphysema has considerable variability in the severity and distribution of parenchymal destruction throughout the lungs. Upper lobe predominant emphysema has emerged as an important predictor of response to lung volume reduction surgery. Yet, aside from alpha-1 antitrypsin deficiency, the genetic determinants of emphysema distribution remain largely unknown. OBJECTIVES: To identify the genetic influences of emphysema distribution in non-alpha-1 antitrypsin deficient smokers...
September 26, 2016: American Journal of Respiratory and Critical Care Medicine
Olga Roche, María Laura Deguiz, María Tiana, Clara Galiana-Ribote, Daniel Martinez-Alcazar, Carlos Rey-Serra, Beatriz Ranz-Ribeiro, Raquel Casitas, Raúl Galera, Isabel Fernández-Navarro, Silvia Sánchez-Cuéllar, Virginie Bernard, Julio Ancochea, Wyeth W Wasserman, Francisco García-Rio, Benilde Jimenez, Luis Del Peso
A wide range of diseases course with an unbalance between the consumption of oxygen by tissues and its supply. This situation triggers a transcriptional response, mediated by the hypoxia inducible factors (HIFs), that aims to restore oxygen homeostasis. Little is known about the inter-individual variation in this response and its role in the progression of disease. Herein, we sought to identify common genetic variants mapping to hypoxia response elements (HREs) and characterize their effect on transcription...
September 12, 2016: Nucleic Acids Research
John Platig, Peter J Castaldi, Dawn DeMeo, John Quackenbush
Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of these variants have weak effects and understanding their combined effect remains a challenge. One hypothesis is that multiple SNPs interact in complex networks to influence functional processes that ultimately lead to complex phenotypes, including disease states. Here we present CONDOR, a method that represents both cis- and trans-acting SNPs and the genes with which they are associated as a bipartite graph and then uses the modular structure of that graph to place SNPs into a functional context...
September 2016: PLoS Computational Biology
Diana A van der Plaat, Kim de Jong, Lies Lahousse, Alen Faiz, Judith M Vonk, Cleo C van Diemen, Ivana Nedeljkovic, Najaf Amin, Guy G Brusselle, Albert Hofman, Corry-Anke Brandsma, Yohan Bossé, Don D Sin, David C Nickle, Cornelia M van Duijn, Dirkje S Postma, H Marike Boezen
BACKGROUND: Although a striking proportion (25% to 45%) of patients with chronic obstructive pulmonary disease are never-smokers, most genetic susceptibility studies have not focused on this group exclusively. OBJECTIVE: The aim of this study was to identify common genetic variants associated with FEV1 and its ratio to forced vital capacity (FVC) in never-smokers. METHODS: Genome-wide association studies were performed in 5070 never-smokers of the identification cohort LifeLines, and results (P < 10(-5)) were verified by using a meta-analysis of the Vlagtwedde-Vlaardingen study and the Rotterdam Study I-III (total n = 1966)...
September 6, 2016: Journal of Allergy and Clinical Immunology
D Przybyłowska, K Piskorska, M Gołaś, M Sikora, E Swoboda-Kopeć, J Kostrzewa-Janicka, E Mierzwińska-Nastalska
Yeast-like fungi and gram-negative bacilli are the most frequent potential pathogens of the respiratory tract isolated from the denture plaque of patients with chronic obstructive pulmonary disease (COPD). Dominant species among yeast-like fungi are Candida albicans and Candida tropicalis. Significant frequency is also exhibited by Klebsiella pneumoniae and Klebsiella oxytoca. The purpose of this study was to analyze genetic diversity of the strains of C. albicans, C. tropicalis, and Klebsiella spp. present in patients in stable phases of COPD...
August 30, 2016: Advances in Experimental Medicine and Biology
Edwin K Silverman
The potential for increased chronic obstructive pulmonary disease (COPD) risk among PI MZ subjects was initially recognized decades ago. However, despite many studies of this topic, it has remained controversial whether such increased risk exists. Several recent studies in large populations strongly support increased risk for COPD among PI MZ subjects. This increased PI MZ risk will need to be understood in the context of other identified COPD genetic determinants and investigations of COPD phenotypic heterogeneity...
August 2016: Annals of the American Thoracic Society
David A Lomas
Chronic obstructive pulmonary disease (COPD) is a multicomponent condition that is estimated to become the third leading cause of death in 2020. The ECLIPSE (Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints) study, funded by GlaxoSmithKline, is an observational study designed to define outcomes that can be used as endpoints in clinical trials in individuals with COPD. It allowed us to describe the heterogeneity of COPD, the stability of the exacerbation phenotype, and the factors associated with a progressive decline in lung function and the progression of emphysema on computed tomography scans...
August 2016: Annals of the American Thoracic Society
Jarrett D Morrow, Michael H Cho, Craig P Hersh, Victor Pinto-Plata, Bartolome Celli, Nathaniel Marchetti, Gerard Criner, Raphael Bueno, George Washko, Kimberly Glass, Augustine M K Choi, John Quackenbush, Edwin K Silverman, Dawn L DeMeo
Chronic obstructive pulmonary disease (COPD) is a smoking-related disease characterized by genetic and phenotypic heterogeneity. Although association studies have identified multiple genomic regions with replicated associations to COPD, genetic variation only partially explains the susceptibility to lung disease, and suggests the relevance of epigenetic investigations. We performed genome-wide DNA methylation profiling in homogenized lung tissue samples from 46 control subjects with normal lung function and 114 subjects with COPD, all former smokers...
August 26, 2016: Epigenetics: Official Journal of the DNA Methylation Society
Robert A Stockley, Ross G Edgar, Anilkumar Pillai, Alice M Turner
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by fixed airflow obstruction and accelerated decline of forced expired volume in 1 second (FEV1). Alpha-1-antitrypsin deficiency is a genetic cause of COPD and associated with more rapid decline in lung function, even in some never smokers (NS) but the potential for individualized assessment to reveal differences when compared to group analyses has rarely been considered. METHODS: We analyzed decline in post-bronchodilator FEV1 and gas transfer (% predicted) over at least 3 years (mean= 6...
2016: International Journal of Chronic Obstructive Pulmonary Disease
Wei Sun, Katerina Kechris, Sean Jacobson, M Bradley Drummond, Gregory A Hawkins, Jenny Yang, Ting-Huei Chen, Pedro Miguel Quibrera, Wayne Anderson, R Graham Barr, Patricia V Basta, Eugene R Bleecker, Terri Beaty, Richard Casaburi, Peter Castaldi, Michael H Cho, Alejandro Comellas, James D Crapo, Gerard Criner, Dawn Demeo, Stephanie A Christenson, David J Couper, Jeffrey L Curtis, Claire M Doerschuk, Christine M Freeman, Natalia A Gouskova, MeiLan K Han, Nicola A Hanania, Nadia N Hansel, Craig P Hersh, Eric A Hoffman, Robert J Kaner, Richard E Kanner, Eric C Kleerup, Sharon Lutz, Fernando J Martinez, Deborah A Meyers, Stephen P Peters, Elizabeth A Regan, Stephen I Rennard, Mary Beth Scholand, Edwin K Silverman, Prescott G Woodruff, Wanda K O'Neal, Russell P Bowler
Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental variations contribute to phenotypic diversity and disease progression. A meta-analysis from two large cohorts of current and former smokers with and without COPD [SPIROMICS (N = 750); COPDGene (N = 590)] was used to identify single nucleotide polymorphisms (SNPs) associated with measurement of 88 blood proteins (protein quantitative trait loci; pQTLs)...
August 2016: PLoS Genetics
Elodie Ehrmann, Anne Jolivet-Gougeon, Martine Bonnaure-Mallet, Thierry Fosse
INTRODUCTION: Capnocytophaga genus was recently known to highly contribute to the beta-lactam (BL) and macrolide-lincosamide-streptogramin (MLS) resistance gene reservoir in the oral microbiota (BL: blaCSP-1 and blaCfxA; MLS: erm(F) and erm(C)). But fluoroquinolone (FQ) resistance remains uncommon in literature, without available data on resistance mechanisms. CASE REPORT: For the first time, a case of acute exacerbation of chronic obstructive pulmonary disease (COPD) was described in a 78-year-old immunocompetent patient due to a multidrug-resistant Capnocytophaga gingivalis isolate with significant microbiological finding...
August 13, 2016: Anaerobe
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate, Jonathan K Alder, Erin M Parry, Wendy V Gilbert, Mary Armanios
Chronic obstructive pulmonary disease and pulmonary fibrosis have been hypothesized to represent premature aging phenotypes. At times, they cluster in families, but the genetic basis is not understood. We identified rare, frameshift mutations in the gene for nuclear assembly factor 1, NAF1, a box H/ACA RNA biogenesis factor, in pulmonary fibrosis-emphysema patients. The mutations segregated with short telomere length, low telomerase RNA levels, and extrapulmonary manifestations including myelodysplastic syndrome and liver disease...
August 10, 2016: Science Translational Medicine
Lystra P Hayden, Michael H Cho, Merry-Lynn N McDonald, James D Crapo, Terri H Beaty, Edwin K Silverman, Craig P Hersh
RATIONALE: Prior studies have indicated that in adult smokers a history of childhood pneumonia is associated with reduced lung function and chronic obstructive pulmonary disease (COPD). There have been few prior investigations using genome-wide association studies (GWAS) to investigate genetic predisposition for pneumonia. This study aims to identify genetic variants associated with development of pneumonia during childhood and over the course of the lifetime. METHODS: Study subjects included current and former smokers with and without COPD participating in the COPDGene Study...
August 10, 2016: American Journal of Respiratory Cell and Molecular Biology
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