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copd genetics

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https://www.readbyqxmd.com/read/29767774/common-and-rare-variants-genetic-association-analysis-of-cigarettes-per-day-among-ever-smokers-in-copd-cases-and-controls
#1
Sharon M Lutz, Brittni Frederiksen, Ferdouse Begum, Merry-Lynn McDonald, Michael H Cho, Brian Hobbs, Margaret M Parker, Dawn L DeMeo, Craig P Hersh, Marissa Eringher, Kendra Young, Lai Jiang, Marilyn G Foreman, Greg L Kinney, Barry J Make, David A Lomas, Per Bakke, Amund Gulsvik, James D Crapo, Edwin K Silverman, Terri H Beaty, John E Hokanson
Introduction: Cigarette smoking is a major environmental risk factor for many diseases, including chronic obstructive pulmonary disease (COPD). There are shared genetic influences on cigarette smoking and COPD. Genetic risk factors for cigarette smoking in cohorts enriched for COPD are largely unknown. Methods: We performed genome-wide association analyses for average cigarettes per day (CPD) across the COPDGene Non-Hispanic White (NHW) (n=6,659) and African American (AA) (n=3,260), GenKOLS (n=1,671), and ECLIPSE (n=1,942) cohorts...
May 15, 2018: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/29762095/ct-based-visual-classification-of-emphysema-association-with-mortality-in-the-copdgene-study
#2
David A Lynch, Camille M Moore, Carla Wilson, Dipti Nevrekar, Theodore Jennermann, Stephen M Humphries, John H M Austin, Philippe A Grenier, Hans-Ulrich Kauczor, MeiLan K Han, Elizabeth A Regan, Barry J Make, Russell P Bowler, Terri H Beaty, Douglas Curran-Everett, John E Hokanson, Jeffrey L Curtis, Edwin K Silverman, James D Crapo
Purpose To determine whether visually assessed patterns of emphysema at CT might provide a simple assessment of mortality risk among cigarette smokers. Materials and Methods Of the first 4000 cigarette smokers consecutively enrolled between 2007 and 2011 in this COPDGene study, 3171 had data available for both visual emphysema CT scores and survival. Each CT scan was retrospectively visually scored by two analysts using the Fleischner Society classification system. Severity of emphysema was also evaluated quantitatively by using percentage lung volume occupied by low-attenuation areas (voxels with attenuation of -950 HU or less) (LAA-950)...
May 15, 2018: Radiology
https://www.readbyqxmd.com/read/29756566/flavonoids-and-reduction-of-cardiovascular-disease-cvd-in-chronic-obstructive-pulmonary-disease-copd
#3
Patrizia Russo, Giulia Prinzi, Palma Lamonaca, Vittorio Cardaci, Massimo Fini
BACKGROUND: Chronic obstructive pulmonary disease (COPD) and cardiovascular diseases (CV) often coexist. COPD and CVD are complex diseases characterized by a strict interaction between environment and genetic. The mechanisms linking these two diseases are complex, multifactorial and not entirely understood, influencing the therapeutic approach. COPD is characterized by several comorbidities, it is hypothesizable that treatment of cardiovascular co-morbidities may reduce morbidity and mortality...
May 13, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29750581/cftr-dysfunction-in-cystic-fibrosis-and-chronic-obstructive-pulmonary-disease
#4
Elena Fernandez Fernandez, Chiara de Santi, Virginia De Rose, Catherine M Greene
Obstructive lung diseases such as cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) are causes of high morbidity and mortality worldwide. CF is a multiorgan genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is characterized by progressive chronic obstructive lung disease. Most cases of COPD are a result of noxious particles, mainly cigarette smoke but also other environmental pollutants. Areas covered: Although the pathogenesis and pathophysiology of CF and COPD differ, they do share key phenotypic features and because of these similarities there is great interest in exploring common mechanisms and/or factors affected by CFTR mutations and environmental insults involved in COPD...
May 11, 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29746142/pulmonary-vascular-involvement-in-copd-is-there-a-pulmonary-vascular-phenotype
#5
Gabor Kovacs, Alvar Agusti, Joan Albert Barberà, Bartolome Celli, Gerard Criner, Marc Humbert, Don D Sin, Norbert Voelkel, Horst Olschewski
Although often clinically unrecognized, the pulmonary circulation is frequently affected in patients with chronic obstructive pulmonary disease (COPD), and the presence of pulmonary vascular disease is associated with poor prognosis and frequent exacerbations. In most cases the presenting pulmonary hypertension (PH) is relatively mild, but in a subset of COPD patients, the presence of certain clinical features supports the existence of a "pulmonary vascular phenotype". Such a phenotype would be characterized by severe pre-capillary PH with strongly elevated pulmonary vascular resistance, moderate airflow limitation, severely decreased diffusion capacity for carbon monoxide, normo- or hypocapnia, circulatory exercise limitation and progressive right heart failure...
May 10, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29725345/a-genome-wide-linkage-study-for-chronic-obstructive-pulmonary-disease-in-a-dutch-genetic-isolate-identifies-novel-rare-candidate-variants
#6
Ivana Nedeljkovic, Natalie Terzikhan, Judith M Vonk, Diana A van der Plaat, Lies Lahousse, Cleo C van Diemen, Brian D Hobbs, Dandi Qiao, Michael H Cho, Guy G Brusselle, Dirkje S Postma, H M Boezen, Cornelia M van Duijn, Najaf Amin
Chronic obstructive pulmonary disease (COPD) is a complex and heritable disease, associated with multiple genetic variants. Specific familial types of COPD may be explained by rare variants, which have not been widely studied. We aimed to discover rare genetic variants underlying COPD through a genome-wide linkage scan. Affected-only analysis was performed using the 6K Illumina Linkage IV Panel in 142 cases clustered in 27 families from a genetic isolate, the Erasmus Rucphen Family (ERF) study. Potential causal variants were identified by searching for shared rare variants in the exome-sequence data of the affected members of the families contributing most to the linkage peak...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29716409/association-of-angiotensin-converting-enzyme-gene-i-d-polymorphism-with-chronic-obstructive-pulmonary-disease-a-meta-analysis
#7
Guodong Xu, Guohui Fan, Yingtong Sun, Lili Yu, Sinan Wu, Wenquan Niu
OBJECTIVES: We conducted a meta-analysis of published studies on the angiotensin-converting enzyme ( ACE) gene insertion/deletion (I/D) polymorphism associated with the risk of chronic obstructive pulmonary disease, as well as with pulmonary function and circulating angiotensin-converting enzyme changes. METHODS: A literature search, quality assessment and data extraction were completed independently and in duplicate. RESULTS: A total of 16 articles were meta-analysed, including 12 articles (2113 patients and 8786 controls) for chronic obstructive pulmonary disease risk and eight articles (11,664 subjects) for pulmonary and circulating phenotypes...
April 2018: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/29710745/prediction-of-microrna-and-gene-target-from-an-integrated-network-in-chronic-obstructive-pulmonary-disease-based-on-canonical-correlation-analysis
#8
Lin Hua, Hong Xia, Wenbin Xu, Weiying Zheng, Ping Zhou
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a complex disorder with a high mortality. The pathophysiology of COPD has not been characterized till date. OBJECTIVE: To identify COPD-related biomarkers by a bioinformatics analysis. METHODS: Here, we conducted the canonical correlation analysis to extract the potential COPD-related miRNAs and mRNAs based on the miRNA-mRNA dual expression profiling data. After identifying miRNAs and mRNAs related to COPD, we constructed an interaction network by integrating three validated miRNA-target sources...
April 17, 2018: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/29709672/of-pleiotropy-and-trajectories-does-the-tgfb-pathway-link-childhood-asthma-and-copd
#9
Avery DeVries, Donata Vercelli
The study of developmental trajectories is where epigenetics truly shines. The "epi" in epi-genetics captures the fact that although epigenetic processes also preside over the maintenance and termination of gene expression, the unfolding and remodeling of chromatin architecture are especially critical to prepare genes for regulated transcription. These properties imply being on a path, a trajectory to events that will occur later on thanks to epigenetic programming. Thus, epigenetics is about timed and timely events...
April 27, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29707563/copd-time-to-improve-its-taxonomy
#10
Bartolomé R Celli, Alvar Agustí
Due to well-conducted epidemiological studies and advances in genetics, molecular biology, translational research, the advent of computed tomography of the lungs and bioinformatics, the diagnosis of chronic obstructive pulmonary disease (COPD) as a single entity caused by susceptibility to cigarette smoke is no longer tenable. Furthermore, the once-accepted concept that COPD results from a rapid and progressive loss of lung function over time is not true for a sizeable proportion of adults with the disease...
January 2018: ERJ Open Research
https://www.readbyqxmd.com/read/29704988/genetic-polymorphisms-of-il17a-tlr4-and-p2rx7-and-associations-with-the-risk-of-chronic-obstructive-pulmonary-disease
#11
Yaoyao Dai, Zhihai Zhang, Lina Xu, Yunfei Shang, Rongrong Lu, Jie Chen
We investigated the association between genetic polymorphisms of IL17A, TLR4 and P2RX7 genes and chronic obstructive pulmonary disease (COPD) in a Han population. We performed a case-control study with 152 COPD subjects from the Third People's Hospital of Nantong in 2015. Healthy controls were selected from a group of people attending the physical examination and were frequency-matched to the cases by sex and age. Genotyping was performed using TaqMan allelic discrimination technology. A logistic regression model was used to calculated odds ratios (OR) and 95% confidence intervals (CI)...
May 2018: Mutation Research
https://www.readbyqxmd.com/read/29697360/wisard-workbench-for-integrated-superfast-association-studies-for-related-datasets
#12
Sungyoung Lee, Sungkyoung Choi, Dandi Qiao, Michael Cho, Edwin K Silverman, Taesung Park, Sungho Won
BACKGROUND: A Mendelian transmission produces phenotypic and genetic relatedness between family members, giving family-based analytical methods an important role in genetic epidemiological studies-from heritability estimations to genetic association analyses. With the advance in genotyping technologies, whole-genome sequence data can be utilized for genetic epidemiological studies, and family-based samples may become more useful for detecting de novo mutations. However, genetic analyses employing family-based samples usually suffer from the complexity of the computational/statistical algorithms, and certain types of family designs, such as incorporating data from extended families, have rarely been used...
April 20, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29694446/clinical-biochemical-and-genetic-risk-factors-for-30-day-and-5-year-mortality-in-518-adult-patients-subjected-to-cardiopulmonary-bypass-during-cardiac-surgery-the-inflacor-study
#13
Maciej Michał Kowalik, Romuald Lango, Piotr Siondalski, Magdalena Chmara, Maciej Brzeziński, Krzysztof Lewandowski, Dariusz Jagielak, Andrzej Klapkowski, Jan Rogowski
There is increasing evidence that genetic variability influences patients' early morbidity after cardiac surgery performed using cardiopulmonary bypass (CPB). The use of mortality as an outcome measure in cardiac surgical genetic association studies is rare. We publish the 30-day and 5-year survival analyses with focus on pre-, intra-, postoperative variables, biochemical parameters, and genetic variants in the INFLACOR (INFLAmmation in Cardiac OpeRations) cohort. In a prospectively recruited cohort of 518 adult Polish Caucasians, who underwent cardiac surgery in which CPB was used, the clinical data, biochemical parameters, IL-6, soluble ICAM-1, TNFα, soluble E-selectin, and 10 single nucleotide polymorphisms were evaluated for their association with 30-day and 5-year mortality...
April 25, 2018: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29688528/smoking-systemic-inflammation-and-airflow-limitation-a-mendelian-randomization-analysis-of-98-085-individuals-from-the-general-population
#14
Yunus Çolak, Shoaib Afzal, Peter Lange, Børge G Nordestgaard
Introduction: Smoking is associated with systemic and local inflammation in the lungs. Furthermore, in chronic obstructive pulmonary disease (COPD), which is often caused by smoking, there is often systemic inflammation that is linked to lung function impairment. However, the causal pathways linking smoking, systemic inflammation, and airflow limitation are still unknown. We tested whether higher tobacco consumption is associated with higher systemic inflammation, observationally and genetically and whether genetically higher systemic inflammation is associated with airflow limitation...
April 24, 2018: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/29679366/blood-group-and-incidence-of-asthma-and-chronic-obstructive-pulmonary-disease
#15
Bożena Mroczek, Zygmunt Sitko, Agnieszka Sujewicz, Weronika Wolińska, Iwona Karpeta-Pawlak, Donata Kurpas
Chronic respiratory diseases are determined by genetic predisposition, and environmental and socioeconomic variables. One genetic factor underlying susceptibility to such diseases can be the ABO blood group system. The purpose of this study was to investigate the hypothesis that there would be a relationship between the blood group and risk of developing asthma and chronic obstructive pulmonary disease (COPD). We reviewed medical history files of patients with the diagnosis of COPD or asthma, including those suffering from a cancerous disease accompanied by asthma or COPD, hospitalized from January 2016 to July 2017...
April 21, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29676646/ambient-air-pollution-and-clinical-implications-for-susceptible-populations
#16
Laura G Hooper, Joel D Kaufman
Air pollution is associated with a diversity of health effects, and evidence for a causal relationship with specific diseases exists. Exposure to air pollution is ubiquitous and typically beyond the control of the individual; the resulting health burden for the population can be high. Disproportionate effects are seen in individuals who have increased susceptibility to air pollution owing to individual- or community-level characteristics. As studies grow increasingly sophisticated, the understanding of who comprises the susceptible population continuously expands...
April 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29676596/lung-dendritic-cells-drive-nk-cytotoxicity-in-chronic-obstructive-pulmonary-disease-via-il-15r%C3%AE
#17
Donna K Finch, Valerie R Stolberg, John Ferguson, Henrih Alikaj, Mohamed R Kady, Bradley W Richmond, Vasiliy V Polosukhin, Timothy S Blackwell, Lisa McCloskey, Jeffrey L Curtis, Christine M Freeman
RATIONALE: Lung natural killer (NK) cells kill a greater percentage of autologous lung parenchymal cells in COPD than in non-obstructed smokers. To become cytotoxic, NKs require priming, typically by dendritic cells (DC), but whether priming occurs in the lungs in COPD is unknown. METHODS: We used lung tissue and in some cases peripheral blood from patients undergoing clinically-indicated resections to determine in vitro killing of CD326+ lung epithelial cells by isolated lung CD56+ NKs...
April 20, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29676014/autoinflammatory-disease-in-the-lung
#18
REVIEW
Thomas Scambler, Jonathan Holbrook, Sinisa Savic, Michael F McDermott, Daniel Peckham
Ascertaining the dominant cell type driving an immunological disease is essential to understanding the causal pathology and, therefore, selecting or developing an effective treatment. Classifying immunological diseases in this way has led to successful treatment regimens for many monogenic diseases; however, when the dominant cell type is unclear and there is no obvious causal genetic mutation, then identifying the correct disease classification and appropriate therapy can be challenging. In this review we focus on pulmonary immunological diseases where an innate immune signature has been identified as a predominant aspect of the immunopathology...
April 19, 2018: Immunology
https://www.readbyqxmd.com/read/29671603/longitudinal-modeling-of-lung-function-trajectories-in-smokers-with-and-without-copd
#19
James C Ross, Peter J Castaldi, Michael H Cho, Craig P Hersh, Farbod N Rahaghi, Gonzalo V Sánchez-Ferrero, Margaret M Parker, Augusto A Litonjua, David Sparrow, Jennifer G Dy, Edwin K Silverman, George R Washko, Raúl San José Estépar
RATIONALE: The relationship between longitudinal lung function trajectories, chest computed tomography (CT) imaging, and genetic predisposition to COPD has not been explored. OBJECTIVES: 1) To model trajectories using a data-driven approach applied to longitudinal data spanning adulthood in the Normative Aging Study (NAS), and 2) to apply these models to demographically similar subjects in the COPDGene Study with detailed phenotypic characterization including chest CT...
April 19, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29662881/the-continuum-of-aging-and-age-related-diseases-common-mechanisms-but-different-rates
#20
REVIEW
Claudio Franceschi, Paolo Garagnani, Cristina Morsiani, Maria Conte, Aurelia Santoro, Andrea Grignolio, Daniela Monti, Miriam Capri, Stefano Salvioli
Geroscience, the new interdisciplinary field that aims to understand the relationship between aging and chronic age-related diseases (ARDs) and geriatric syndromes (GSs), is based on epidemiological evidence and experimental data that aging is the major risk factor for such pathologies and assumes that aging and ARDs/GSs share a common set of basic biological mechanisms. A consequence is that the primary target of medicine is to combat aging instead of any single ARD/GSs one by one, as favored by the fragmentation into hundreds of specialties and sub-specialties...
2018: Frontiers in Medicine
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