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copd genetics

Adrian Egli, Jyotshna Mandal, Desiree M Schumann, Michael Roth, Brad Thomas, D Lorne Tyrrell, Francesco Blasi, Kostantinos Kostikas, Wim Boersma, Branislava Milenkovic, Alicia Lacoma, Katharina Rentsch, Gernot G U Rohde, Renaud Louis, Joachim G Aerts, Tobias Welte, Antoni Torres, Michael Tamm, Daiana Stolz
BACKGROUND: Interferon lambdas (IFNLs) have important anti-viral/bacterial and immunomodulatory functions in the respiratory tract. How do IFNLs impact COPD and its exacerbations? METHODS: Five hundred twenty eight patients were recruited in a prospective observational multicentre cohort (PROMISE) study. The genetic polymorphisms (rs8099917 and rs12979860) within the IFNL3/4 gene region and circulating levels of IFNL3 in COPD patients were determined and associated with disease activity and outcome during a median follow-up of 24 months...
March 21, 2018: BMC Pulmonary Medicine
Xu Wang, Xiaochang Zhang, Lina Jin, Zhiguang Yang, Wei Li, Jiuwei Cui
OBJECTIVE: Early detection and diagnosis of lung cancer remain challenging but would improve patient prognosis. The goal of this study is to develop a model to estimate the risk of lung cancer for a given individual. METHODS: We conducted a case-control study to develop a predictive model to identify individuals at high risk for lung cancer. Clinical data from 500 lung cancer patients and 500 population-based age- and gender-matched controls were used to develop and evaluate the model...
February 28, 2018: Cancer Biomarkers: Section A of Disease Markers
David Z Silberstein, Kalimuthu Karuppanan, Hnin Hnin Aung, Ching-Hsien Chen, Carroll E Cross, Karen A McDonald
Proteases and reactive oxygen species (ROS) have long been implicated in playing key roles in host tissue injury at sites of inflammatory processes dominated by macrophage activations and/or neutrophil infiltrations. Imbalances between proteases/antiproteases and ROS/antioxidants are recognized to contribute to amplification of inflammatory-based host tissue injury. This has been especially well-documented in such respiratory tract diseases as chronic obstructive pulmonary disease, cystic fibrosis, and acute respiratory distress syndrome...
March 15, 2018: Free Radical Biology & Medicine
Daniel B Hawcutt, Ben Francis, Daniel F Carr, Andrea L Jorgensen, Peng Yin, Naomi Wallin, Natalie O'Hara, Eunice J Zhang, Katarzyna M Bloch, Amitava Ganguli, Ben Thompson, Laurence McEvoy, Matthew Peak, Andrew A Crawford, Brian R Walker, Joanne C Blair, Jonathan Couriel, Rosalind L Smyth, Munir Pirmohamed
BACKGROUND: A serious adverse effect of corticosteroid therapy is adrenal suppression. Our aim was to identify genetic variants affecting susceptibility to corticosteroid-induced adrenal suppression. METHODS: We enrolled children with asthma who used inhaled corticosteroids as part of their treatment from 25 sites across the UK (discovery cohort), as part of the Pharmacogenetics of Adrenal Suppression with Inhaled Steroids (PASS) study. We included two validation cohorts, one comprising children with asthma (PASS study) and the other consisting of adults with chronic obstructive pulmonary disorder (COPD) who were recruited from two UK centres for the Pharmacogenomics of Adrenal Suppression in COPD (PASIC) study...
March 15, 2018: Lancet Respiratory Medicine
Maxime Lamontagne, Jean-Christophe Bérubé, Ma'en Obeidat, Michael H Cho, Brian D Hobbs, Phuwanat Sakornsakolpat, Kim de Jong, H Marike Boezen, David Nickle, Ke Hao, Wim Timens, Maarten van den Berge, Philippe Joubert, Michel Laviolette, Don D Sin, Peter D Paré, Yohan Bossé
Causal genes of chronic obstructive pulmonary disease (COPD) remain elusive. The current study aims at integrating genome-wide association studies (GWAS) and lung expression quantitative loci (eQTL) data to map COPD candidate causal genes and gain biological insights into the recently discovered COPD susceptibility loci. Two complementary genomic datasets on COPD were studied. First, the lung eQTL dataset which included whole-genome gene expression and genotyping data from 1,038 individuals. Second, the largest COPD GWAS to date from the International COPD Genetics Consortium (ICGC) with 13,710 cases and 38,062 controls...
March 14, 2018: Human Molecular Genetics
Elizabeth C Oelsner, Benjamin M Smith, Eric A Hoffman, Ravi Kalhan, Kathleen M Donohue, Joel D Kaufman, Jennifer N Nguyen, Ani W Manichaikul, Jerome I Rotter, Erin D Michos, David R Jacobs, Gregory L Burke, Aaron R Folsom, Joseph E Schwartz, Karol Watson, R Graham Barr
RATIONALE: Large airway dimensions on computed tomography (CT) have been associated with lung function, symptoms, and exacerbations in COPD, and symptoms in smokers with preserved spirometry. Their prognostic significance in persons without lung disease remains undefined. OBJECTIVES: To examine associations between large airway dimensions on CT and respiratory outcomes in a population-based cohort of adults without prevalent lung disease. METHODS: The Multi-Ethnic Study of Atherosclerosis recruited participants ages 45-84 years without cardiovascular disease in 2000-02; we excluded participants with prevalent chronic lower respiratory disease (CLRD)...
March 12, 2018: Annals of the American Thoracic Society
Rachel L Clifford, Nick Fishbane, Jamie Patel, Julia L MacIsaac, Lisa M McEwen, Andrew J Fisher, Corry-Anke Brandsma, Parameswaran Nair, Michael S Kobor, Tillie-Louise Hackett, Alan J Knox
Background: Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease of the lungs that is currently the fourth leading cause of death worldwide. Genetic factors account for only a small amount of COPD risk, but epigenetic mechanisms, including DNA methylation, have the potential to mediate the interactions between an individual's genetics and environmental exposure. DNA methylation is highly cell type-specific, and individual cell type studies of DNA methylation in COPD are sparse...
2018: Clinical Epigenetics
Juan M Reséndiz-Hernández, Ramcés Falfán-Valencia
Asthma and chronic obstructive pulmonary disease (COPD) are widely documented diseases with an inflammatory component. Asthma is a heterogeneous disorder of the airways that involves chronic inflammation, decline of the airway function and tissue remodeling. Chronic obstructive pulmonary disease is a preventable and treatable disease, which is characterized by persistent limited airflow, and is usually progressive with an increased inflammatory response in the airways. The inflammatory response is evoked by the stimulus of noxious particles and gases...
January 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Coline H M van Moorsel
PURPOSE OF REVIEW: The process of aging involves biological changes that increases susceptibility for disease. In the aging lung disease IPF, GWAS studies identified genes associated with risk for disease. Recently, several of these genes were also found to be involved in risk for COPD or lung cancer. This review describes GWAS-derived risk genes for IPF that overlap with risk genes for lung cancer or COPD. RECENT FINDINGS: Risk genes that overlap between aging lung diseases, include FAM13A, DSP and TERT...
March 6, 2018: Current Opinion in Pulmonary Medicine
Meng-Chen Tsai, Chun-Chi Kuo, Ying-Zhen Su, Yen-Chuan Hsieh, Shih-Sung Chuang
Effusion-based lymphoma (EBL) is a rare but distinct entity of large B-cell lymphoma in effusion without association with human herpes virus-8 (HHV-8). Spontaneous regression after pleurocentesis has been observed; but to our knowledge, there are no reports on the morphological and molecular features of subsequent aspirations in regressing cases. Here, we report the case of a 92-year-old male with chronic obstructive pulmonary disease, who presented with right pleural effusion. He had no human immunodeficiency virus, hepatitis B virus, or hepatitis C virus infection, and CT scans revealed no mass lesion...
March 8, 2018: Diagnostic Cytopathology
Juan Manuel Reséndiz-Hernández, Enrique Ambrocio-Ortiz, Gloria Pérez-Rubio, Luis Alberto López-Flores, Edgar Abarca-Rojano, Gandhi Fernando Pavón-Romero, Fernando Flores-Trujillo, Rafael de Jesús Hernández-Zenteno, Ángel Camarena, Martha Pérez-Rodríguez, Ana María Salazar, Alejandra Ramírez-Venegas, Ramcés Falfán-Valencia
Background: Smoking and smoke from biomass burning (BB) are the main environmental risk factors for COPD. Clinical differences have been described between COPD related to smoking and related to wood smoke, but no studies have shown genetic differences between patients exposed to these two risk factors. Methods: To investigate a possible association of tumor necrosis factor ( TNF ) promoter polymorphisms, we conducted a case-control study. A total of 1,322 subjects were included in four groups: patients with a diagnosis of COPD secondary to smoking (COPD-S, n=384), patients with COPD secondary to biomass burning (COPD-BB, n=168), smokers without COPD (SWOC, n=674), and biomass burning-exposed subjects (BBES n=96)...
2018: International Journal of Chronic Obstructive Pulmonary Disease
Jacelyn Emily Peabody, Ren-Jay Shei, Brent M Bermingham, Scott Edward Phillips, Brett Turner, Steven M Rowe, George Martin Solomon
The respiratory tract is lined with multi-ciliated epithelial cells that function to move mucus and trapped particles via the mucociliary transport apparatus. Genetic and acquired ciliopathies result in diminished mucociliary clearance, contributing to disease pathogenesis. Recent innovations in imaging technology has advanced our understanding of ciliary motion in health and disease states. Application of imaging modalities including transmission electron microscopy (TEM), high-speed video microscopy (HSVM), and micron-optical coherence tomography (μOCT) could improve diagnostics and be applied for precision medicine...
March 1, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
Thijs W Hoffman, Coline H M van Moorsel, Raphael Borie, Bruno Crestani
PURPOSE OF REVIEW: Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes...
February 21, 2018: Current Opinion in Pulmonary Medicine
Grith L Sorensen
Surfactant protein D (SP-D) is a multimeric collectin that is involved in innate immune defense and expressed in pulmonary, as well as non-pulmonary, epithelia. SP-D exerts antimicrobial effects and dampens inflammation through direct microbial interactions and modulation of host cell responses via a series of cellular receptors. However, low protein concentrations, genetic variation, biochemical modification, and proteolytic breakdown can induce decomposition of multimeric SP-D into low-molecular weight forms, which may induce pro-inflammatory SP-D signaling...
2018: Frontiers in Medicine
Janet B Croft, Anne G Wheaton, Yong Liu, Fang Xu, Hua Lu, Kevin A Matthews, Timothy J Cunningham, Yan Wang, James B Holt
Chronic obstructive pulmonary disease (COPD) accounts for the majority of deaths from chronic lower respiratory diseases, the third leading cause of death in the United States in 2015 and the fourth leading cause in 2016.* Major risk factors include tobacco exposure, occupational and environmental exposures, respiratory infections, and genetics.† State variations in COPD outcomes (1) suggest that it might be more common in states with large rural areas. To assess urban-rural variations in COPD prevalence, hospitalizations, and mortality; obtain county-level estimates; and update state-level variations in COPD measures, CDC analyzed 2015 data from the Behavioral Risk Factor Surveillance System (BRFSS), Medicare hospital records, and death certificate data from the National Vital Statistics System (NVSS)...
February 23, 2018: MMWR. Morbidity and Mortality Weekly Report
A Perciaccante, P Charlier, C Negri, A Coralli, O Appenzeller, R Bianucci
A1AT deficiency- a genetically inherited autosomal codominant disease with more than 120 identified alleles- was first identified by Laurell and Eriksson in 1963. The most common hereditary disorder in adults, A1AT causes an increased risk of developing pulmonary emphysema and liver disease. In A1AT patients, lung disease generally presents at a younger age than "usual" chronic obstructive pulmonary disease (COPD) and it may be misdiagnosed as asthma. Because A1AT deficiency patients can show the same clinical features as non-deficient COPD (including increased evidence of bronchiectasis, frequent exacerbations, impaired health status and a degree of reversibility of airflow obstruction), the World Health Organization recommend to test every patient with a diagnosis of COPD or adult-onset asthma for A1AT deficiency...
February 2018: COPD
Gerard M Turino
This article assesses developments in cardiorespiratory medicine since the Nobel Prize in Physiology or Medicine was awarded in 1956 for advancements in the study of cardiorespiratory disease. In chronic obstructive pulmonary disease, advances were accelerated by the discovery of a genetically determined cause for pulmonary emphysema in the genetic abnormality alpha-1 antitrypsin deficiency. This causes a deficiency of the inhibitor of neutrophil elastase, which results in increased degradation of lung elastin and the development of pulmonary emphysema...
February 2018: Annals of the American Thoracic Society
Florie Borel, Huaming Sun, Marina Zieger, Andrew Cox, Brynn Cardozo, Weiying Li, Gabriella Oliveira, Airiel Davis, Alisha Gruntman, Terence R Flotte, Michael H Brodsky, Andrew M Hoffman, Mai K Elmallah, Christian Mueller
Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is α-1 antitrypsin (AAT) deficiency. Due to the complexity of the murine locus, which includes up to six Serpina1 paralogs, no genetic animal model of the disease has been successfully generated until now. Here we create a quintuple Serpina1a-e knockout using CRISPR/Cas9-mediated genome editing. The phenotype recapitulates the human disease phenotype, i.e., absence of hepatic and circulating AAT translates functionally to a reduced capacity to inhibit neutrophil elastase...
February 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
Isaac K Sundar, Kahkashan Rashid, Janice Gerloff, Dongmei Li, Irfan Rahman
Cigarette smoke (CS) affects DNA damage and cellular senescence signaling pathways in the pathogenesis of chronic obstructive pulmonary disease (COPD). p16(INK4a) (p16: a cyclin-dependent kinase inhibitor) is a key marker of cellular senescence, which is induced by CS in lung cells. It is thought that removal of p16 attenuates premature aging by removing senesced cells. However, the role of p16 in CS-induced stress induce premature senescence (SIPS) and senescence-associated secretory phenotype (SASP during the development of COPD/emphysema is not known...
February 15, 2018: American Journal of Respiratory Cell and Molecular Biology
Ivan Curjuric, Medea Imboden, Robert Bettschart, Seraina Caviezel, Julia Dratva, Marco Pons, Thomas Rothe, Arno Schmidt-Trucksäss, Daiana Stolz, Gian Andri Thun, Arnold von Eckardstein, Florian Kronenberg, Ilaria Ferrarotti, Nicole M Probst-Hensch
BACKGROUND AND AIMS: Alpha-1 antitrypsin (A1AT) is the most abundant serine protease inhibitor in human blood and exerts important anti-inflammatory and immune-modulatory effects. In combination with smoking or other long-term noxious exposures such as occupational dust and fumes, genetic A1AT deficiency can cause chronic obstructive pulmonary disease, a condition with elevated cardiovascular risk. The effects of A1AT deficiency on cardiovascular risk have hardly been studied today. METHODS: Using data from 2614 adults from the population-based SAPALDIA cohort, we tested associations of serum A1AT and SERPINA1 mutations with carotid intima-media thickness (CIMT, measured by B-mode ultrasonography) or self-reported arterial hypertension or cardiovascular disease in multiple regression models using a Mendelian Randomization like analysis design...
January 31, 2018: Atherosclerosis
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