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https://www.readbyqxmd.com/read/29339516/human-airway-branch-variation-and-chronic-obstructive-pulmonary-disease
#1
Benjamin M Smith, Hussein Traboulsi, John H M Austin, Ani Manichaikul, Eric A Hoffman, Eugene R Bleecker, Wellington V Cardoso, Christopher Cooper, David J Couper, Stephen M Dashnaw, Jia Guo, MeiLan K Han, Nadia N Hansel, Emlyn W Hughes, David R Jacobs, Richard E Kanner, Joel D Kaufman, Eric Kleerup, Ching-Long Lin, Kiang Liu, Christian M Lo Cascio, Fernando J Martinez, Jennifer N Nguyen, Martin R Prince, Stephen Rennard, Stephen S Rich, Leora Simon, Yanping Sun, Karol E Watson, Prescott G Woodruff, Carolyn J Baglole, R Graham Barr
Susceptibility to chronic obstructive pulmonary disease (COPD) beyond cigarette smoking is incompletely understood, although several genetic variants associated with COPD are known to regulate airway branch development. We demonstrate that in vivo central airway branch variants are present in 26.5% of the general population, are unchanged over 10 y, and exhibit strong familial aggregation. The most common airway branch variant is associated with COPD in two cohorts (n = 5,054), with greater central airway bifurcation density, and with emphysema throughout the lung...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29339421/hif1a-rs10873142-polymorphism-is-associated-with-risk-of-chronic-obstructive-pulmonary-disease-in-a-chinese-han-population-a-case-control-study
#2
Licheng Wang, Yaliang Tang, Ye Chen
Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow. Recently, variants in the hypoxia-inducible factor 1α ( HIF1A ) gene were found to be associated with COPD risk. This study aimed to identify whether rs10873142 polymorphism (an intronic polymorphism) in HIF1A gene was related to COPD in a Chinese population. We genotyped HIF1A gene rs10873142 polymorphism in a case-control study with 235 COPD cases and 548 controls in a Chinese Han population...
January 16, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29335020/ensemble-genomic-analysis-in-human-lung-tissue-identifies-novel-genes-for-chronic-obstructive-pulmonary-disease
#3
Jarrett D Morrow, Michael H Cho, John Platig, Xiaobo Zhou, Dawn L DeMeo, Weiliang Qiu, Bartholome Celli, Nathaniel Marchetti, Gerard J Criner, Raphael Bueno, George R Washko, Kimberly Glass, John Quackenbush, Edwin K Silverman, Craig P Hersh
BACKGROUND: Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. Integrative analysis of multiple omics datasets has the potential to identify novel genes involved in disease pathogenesis by leveraging these variants in a functional, regulatory context...
January 15, 2018: Human Genomics
https://www.readbyqxmd.com/read/29329304/a-novel-method-to-test-associations-between-a-weighted-combination-of-phenotypes-and-genetic-variants
#4
Huanhuan Zhu, Shuanglin Zhang, Qiuying Sha
Many complex diseases like diabetes, hypertension, metabolic syndrome, et cetera, are measured by multiple correlated phenotypes. However, most genome-wide association studies (GWAS) focus on one phenotype of interest or study multiple phenotypes separately for identifying genetic variants associated with complex diseases. Analyzing one phenotype or the related phenotypes separately may lose power due to ignoring the information obtained by combining phenotypes, such as the correlation between phenotypes. In order to increase statistical power to detect genetic variants associated with complex diseases, we develop a novel method to test a weighted combination of multiple phenotypes (WCmulP)...
2018: PloS One
https://www.readbyqxmd.com/read/29325677/chronic-obstructive-pulmonary-disease-among-lung-cancer-free-smokers-the-importance-of-healthy-controls
#5
Michelle D Karpman, Ronald Eldridge, Jack L Follis, Carol J Etzel, Sanjay Shete, Randa A El-Zein
BACKGROUND: The prevalence of chronic obstructive pulmonary disease (COPD) in smokers enrolled as "healthy" controls in studies is 10-50%. The COPD status of ideal smoker populations for lung cancer case-control studies should be checked via spirometry; however, this is often not feasible, because no medical indications exist for asymptomatic smokers to undergo spirometry prior to study enrollment. Therefore, there is an unmet need for robust, cost effective assays for identifying undiagnosed lung disease among asymptomatic smokers...
January 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29317548/examining-genetic-susceptibility-in-acute-exacerbations-of-copd
#6
EDITORIAL
Emily S Wan
No abstract text is available yet for this article.
January 9, 2018: Thorax
https://www.readbyqxmd.com/read/29314863/bacterial-derived-neutrophilic-inflammation-drives-lung-remodeling-in-a-mouse-model-of-copd
#7
Bradley W Richmond, Rui-Hong Du, Wei Han, John T Benjamin, Riet van der Meer, Linda Gleaves, Marshall Guo, Austin McKissack, Yongqin Zhang, Dong-Sheng Cheng, Vasiliy V Polosukhin, Timothy S Blackwell
Loss of secretory immunoglobulin A (SIgA) is common in the small airways of patients with chronic obstructive pulmonary disease (COPD) and may contribute to disease pathogenesis. Using mice that lack SIgA in the airways due to genetic deficiency of polymeric immunoglobulin receptor (pIgR-/- mice), we investigated the role of neutrophils in driving the fibrotic small airway wall remodeling and emphysema that develops spontaneously in these mice. By flow cytometry, we found an increase in the percentage of neutrophils among CD45+ cells in the lungs, as well as an increase in total neutrophils, in pIgR-/- mice compared to wild-type (WT) controls...
January 9, 2018: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29313708/human-lung-dna-methylation-quantitative-trait-loci-colocalize-with-copd-genome-wide-association-loci
#8
Jarrett D Morrow, Kimberly Glass, Michael H Cho, Craig P Hersh, Victor Pinto-Plata, Bartolome Celli, Nathaniel Marchetti, Gerard Criner, Raphael Bueno, George Washko, Augustine M K Choi, John Quackenbush, Edwin K Silverman, Dawn L DeMeo
RATIONALE: As the third leading cause of death in the United States, the impact of chronic obstructive pulmonary disease (COPD) makes identification of its molecular mechanisms of great importance. Genome-wide association studies have identified multiple genomic regions associated with COPD. However, genetic variation only explains a small fraction of the susceptibility to COPD and sub-genome-wide significant loci may play a role in pathogenesis. OBJECTIVES: Regulatory annotation with epigenetic evidence may give priority for further investigation, particularly for GWAS associations in non-coding regions...
January 9, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29301918/ers-ats-workshop-report-on-respiratory-health-effects-of-household-air-pollution
#9
Akshay Sood, Nour A Assad, Peter J Barnes, Andrew Churg, Stephen B Gordon, Kevin S Harrod, Hammad Irshad, Om P Kurmi, William J Martin, Paula Meek, Kevin Mortimer, Curtis W Noonan, Rogelio Perez-Padilla, Kirk R Smith, Yohannes Tesfaigzi, Tony Ward, John Balmes
Exposure to household air pollution (HAP) from solid fuel combustion affects almost half of the world population. Adverse respiratory outcomes such as respiratory infections, impaired lung growth and chronic obstructive pulmonary disease have been linked to HAP exposure. Solid fuel smoke is a heterogeneous mixture of various gases and particulates. Cell culture and animal studies with controlled exposure conditions and genetic homogeneity provide important insights into HAP mechanisms. Impaired bacterial phagocytosis in exposed human alveolar macrophages possibly mediates several HAP-related health effects...
January 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29298081/paratracheal-paraseptal-emphysema-and-expiratory-central-airway-collapse-in-smokers
#10
Carla R Copeland, Hrudaya Nath, Nina L J Terry, Carla G Wilson, Young-Il Kim, David A Lynch, Sandeep Bodduluri, J Michael Wells, Mark T Dransfield, Alejandro A Díaz, George R Washko, Marilyn G Foreman, Surya P Bhatt
RATIONALE: Expiratory central airway collapse (ECAC) is associated with respiratory morbidity independent of underlying lung disease. However, not all smokers develop ECAC and the etiology of ECAC in adult smokers is unclear. Paraseptal emphysema in the paratracheal location, by untethering airway walls, may predispose smokers to developing ECAC. OBJECTIVE: To evaluate whether paratracheal paraseptal emphysema (paratracheal PSE) is associated with ECAC. METHODS: We analyzed paired inspiratory and expiratory computed tomography scans from participants enrolled in a multicenter study (COPDGene) of smokers aged 45-80 years...
January 3, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29288933/targeting-the-renin-angiotensin-system-as-novel-therapeutic-strategy-for-pulmonary-diseases
#11
REVIEW
Wan Shun Daniel Tan, Wupeng Liao, Shuo Zhou, Dan Mei, Wai-Shiu Fred Wong
The renin-angiotensin system (RAS) plays a major role in regulating electrolyte balance and blood pressure. RAS has also been implicated in the regulation of inflammation, proliferation and fibrosis in pulmonary diseases such as asthma, acute lung injury (ALI), chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF) and pulmonary arterial hypertension (PAH). Current therapeutics suffer from some drawbacks like steroid resistance, limited efficacies and side effects. Novel intervention is definitely needed to offer optimal therapeutic strategy and clinical outcome...
December 27, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29260600/recent-insights-into-human-bronchial-proteomics-how-are-we-progressing-and-what-is-next
#12
Heng Wee Tan, Yan-Ming Xu, Dan-Dan Wu, Andy T Y Lau
The human respiratory system is highly prone to diseases and complications. Many lung diseases, including lung cancer (LC), tuberculosis (TB), and chronic obstructive pulmonary disease (COPD) have been among the most common causes of death worldwide. Cystic fibrosis (CF), the most common genetic disease in Caucasians, has adverse impacts on the lungs. Bronchial proteomics plays a significant role in understanding the underlying mechanisms and pathogenicity of lung diseases and provides insights for biomarker and therapeutic target discoveries...
December 20, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/29239766/fam13a-is-a-modifier-gene-of-cystic-fibrosis-lung-phenotype-regulating-rhoa-activity-actin-cytoskeleton-dynamics-and-epithelial-mesenchymal-transition
#13
Harriet Corvol, Nathalie Rousselet, Kristin E Thompson, Laura Berdah, Guillaume Cottin, Tobias Foussigniere, Elisabeth Longchampt, Laurence Fiette, Edouard Sage, Céline Prunier, Mitchell Drumm, Craig A Hodges, Pierre-Yves Boëlle, Loic Guillot
BACKGROUND: Cystic fibrosis (CF) lung disease severity is highly variable and dependent on several factors including genetic modifiers. Family with sequence similarity 13 member A (FAM13A) has been previously associated with lung function in the general population as well as in several chronic lung diseases, such as chronic obstructive pulmonary disease (COPD), we examined whether FAM13A is a modifier gene of CF lung phenotype. We also studied how FAM13A may contribute to the physiopathological mechanisms associated with CF...
November 24, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29238183/gene-and-mirna-expression-profiles-in-pbmcs-from-patients-with-severe-and-mild-emphysema-and-pizz-alpha1-antitrypsin-deficiency
#14
Cristina Esquinas, Sabina Janciauskiene, Ricardo Gonzalo, Gemma Mas de Xaxars, Beata Olejnicka, Irene Belmonte, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Rodriguez-Frias, Marc Miravitlles
Introduction: COPD has complex etiologies involving both genetic and environmental determinants. Among genetic determinants, the most recognized is a severe PiZZ (Glu342Lys) inherited alpha1-antitrypsin deficiency (AATD). Nonetheless, AATD patients present a heterogeneous clinical evolution, which has not been completely explained by sociodemographic or clinical factors. Here we performed the gene expression profiling of blood cells collected from mild and severe COPD patients with PiZZ AATD...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29217598/phenotypes-of-symptomatic-airways-disease-in-china-and-new-zealand
#15
James Fingleton, Kewu Huang, Mark Weatherall, Yanfei Guo, Stefan Ivanov, Piet Bruijnzeel, Hong Zhang, Wei Wang, Richard Beasley, Chen Wang
It is uncertain whether phenotypes of asthma and chronic obstructive pulmonary disease (COPD) vary between populations with different genetic and environmental characteristics. Here, our objective was to compare the phenotypes of airways disease in two separate populations.This was a cross-sectional observational study in adult populations from New Zealand and China. Participants aged 40-75 years who reported wheeze and breathlessness in the last 12 months were randomly selected from the general population and underwent detailed characterisation...
December 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29210751/chronic-obstructive-pulmonary-disease-and-lung-cancer-inter-relationships
#16
Abhishek Biswas, Hiren J Mehta, Erik E Folch
PURPOSE OF REVIEW: Chronic obstructive pulmonary disease (COPD) is a well established risk factor for lung cancer. Newer studies reveal a myriad of other mechanisms, some proven and some putative, which may contribute to their association. RECENT FINDINGS: There is an ever-growing bundle of evidence that suggests a close association between persistent chronic inflammation and lung cancer. A few potential targets of genetic susceptibility locus for COPD and lung cancer have been suggested...
November 27, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29206641/comparison-of-exercise-training-responses-in-copd-patients-with-and-without-alpha-1-antitrypsin-deficiency
#17
Inga Jarosch, Wolfgang Hitzl, Andreas Rembert Koczulla, Marion Wencker, Tobias Welte, Rainer Gloeckl, Sabina Janciauskiene, Klaus Kenn
BACKGROUND: The benefits of pulmonary rehabilitation (PR) on fatigue-resistant skeletal muscle fibre type I have been found to be smaller in COPD patients with alpha-1 antitrypsin deficiency (AATD) than in those without AATD. Alpha-1 antitrypsin (AAT) augmentation therapy was suggested as a potential factor of influence. Whether this finding mirrors different improvements in 6-min walk distance (6MWD) between both groups remains unknown. METHODS: 140 patients with AATD-related COPD (phenotype PiZZ, FEV1: 31 ± 8%pred...
September 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29203782/genetic-pleiotropy-between-nicotine-dependence-and-respiratory-outcomes
#18
Jushan Zhang, Shouneng Peng, Haoxiang Cheng, Yoko Nomura, Antonio Fabio Di Narzo, Ke Hao
Smoking is a major cause of respiratory conditions. To date, the genetic pleiotropy between smoking behavior and lung function/chronic obstructive pulmonary disease (COPD) have not been systematically explored. We leverage large data sets of smoking behavior, lung function and COPD, and addressed two questions, (1) whether the genetic predisposition of nicotine dependence influence COPD risk and lung function; and (2) the genetic pleiotropy follow causal or independent model. We found the genetic predisposition of nicotine dependence was associated with COPD risk, even after adjusting for smoking behavior, indicating genetic pleiotropy and independent model...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29203722/what-do-polymorphisms-tell-us-about-the-mechanisms-of-copd
#19
REVIEW
Yan Li, Michael H Cho, Xiaobo Zhou
COPD (chronic obstructive pulmonary disease) is characterized by irreversible lung airflow obstruction. Cigarette smoke is the major risk factor for COPD development. However, only a minority number of smokers develop COPD, and there are substantial variations in lung function among smokers, suggesting that genetic determinants in COPD susceptibility. During the past decade, genome-wide association studies and exome sequencing have been instrumental to identify the genetic determinants of complex traits, including COPD...
December 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29203713/therapeutic-potential-of-heat-shock-protein-induction-for-muscular-dystrophy-and-other-muscle-wasting-conditions
#20
REVIEW
Savant S Thakur, Kristy Swiderski, James G Ryall, Gordon S Lynch
Duchenne muscular dystrophy is the most common and severe of the muscular dystrophies, a group of inherited myopathies caused by different genetic mutations leading to aberrant expression or complete absence of cytoskeletal proteins. Dystrophic muscles are prone to injury, and regenerate poorly after damage. Remorseless cycles of muscle fibre breakdown and incomplete repair lead to progressive and severe muscle wasting, weakness and premature death. Many other conditions are similarly characterized by muscle wasting, including sarcopenia, cancer cachexia, sepsis, denervation, burns, and chronic obstructive pulmonary disease...
January 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
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