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https://www.readbyqxmd.com/read/28335732/lung-function-associated-gene-integrator-complex-subunit-12-regulates-protein-synthesis-pathways
#1
Alexander K Kheirallah, Cornelia H de Moor, Alen Faiz, Ian Sayers, Ian P Hall
BACKGROUND: Genetic studies of human lung function and Chronic Obstructive Pulmonary Disease have identified a highly significant and reproducible signal on 4q24. It remains unclear which of the two candidate genes within this locus may regulate lung function: GSTCD, a gene with unknown function, and/or INTS12, a member of the Integrator Complex which is currently thought to mediate 3'end processing of small nuclear RNAs. RESULTS: We found that, in lung tissue, 4q24 polymorphisms associated with lung function correlate with INTS12 but not neighbouring GSTCD expression...
March 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28331304/does-urinary-peptide-content-differ-between-copd-patients-with-and-without-inherited-alpha-1-antitrypsin-deficiency
#2
Alfonso Carleo, Joanna Chorostowska-Wynimko, Thomas Koeck, Harald Mischak, Małgorzata Czajkowska-Malinowska, Adriana Rozy, Tobias Welte, Sabina Janciauskiene
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also for improving personalized therapies. This pilot study aimed to investigate whether urinary peptides reflect the A1AT-related phenotypes of COPD. Urine samples from 19 clinically stable COPD cases (7 PiMM and 12 PiZZ A1AT) were analyzed by capillary electrophoresis coupled to mass spectrometry...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28327457/beta2-adrenergic-receptor-gene-haplotypes-and-bronchodilator-response-in-egyptian-patients-with-chronic-obstructive-pulmonary-disease
#3
Mohammad H Hussein, Khaled E Sobhy, Irene M Sabry, Ahmed T El Serafi, Eman A Toraih
PURPOSE: Chronic obstructive pulmonary disease (COPD) is a multi-factorial disorder caused by environmental determinants and genetic risk factors. Understanding the genetic predisposition of COPD is essential to develop personalized treatment regimens. Beta2-adrenergic receptor (ADRB2) gene polymorphisms have been implicated in the pathogenesis of obstructive pulmonary diseases. This study was conducted to assess the genetic association between Arg16Gly and Gln27Glu polymorphisms and COPD in the Egyptian patients, and to analyze their impact on the clinical outcome and therapeutic response...
March 16, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28306355/alpha-1-antitrypsin-deficiency-disease-management-and-learning-from-studies
#4
Timm Greulich
Alpha-1-antitrypsin deficiency (AATD) is one of the most frequent genetic causes of liver and lung diseases. Despite its known association with chronic obstructive pulmonary disease (COPD), AATD is largely unrecognised and underdiagnosed. Cases of AATD exist within every COPD or spirometry population but must be actively investigated. AATD is a laboratory diagnosis that must be confirmed by a blood test. A number of clinical 'clues' can raise suspicion of AATD, potentially facilitating earlier diagnosis and initiation of appropriate treatment...
March 15, 2017: COPD
https://www.readbyqxmd.com/read/28302109/interaction-of-cd14-haplotypes-and-soluble-cd14-on-pulmonary-function-in-agricultural-workers
#5
Tricia D LeVan, Lynette M Smith, Art J Heires, Ted R Mikuls, Jane L Meza, Lisa A Weissenburger-Moser, Debra J Romberger
BACKGROUND: Agricultural environments are contaminated with organic dusts containing bacterial components. Chronic inhalation of organic dusts is implicated in respiratory diseases. CD14 is a critical receptor for gram-negative lipopolysaccharide; however, its association with respiratory disease among agricultural workers is unknown. The objective of this study was to determine if serum soluble CD14 (sCD14) levels are associated with lung function among agricultural workers and if this association is modified by genetic variants in CD14...
March 16, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28292852/progress-in-disease-progression-genetics-dissecting-the-genetic-origins-of-lung-function-decline-in-copd
#6
EDITORIAL
Robert Busch, Michael H Cho, Edwin K Silverman
No abstract text is available yet for this article.
March 14, 2017: Thorax
https://www.readbyqxmd.com/read/28257315/personalized-medicine-and-chronic-obstructive-pulmonary-disease
#7
E F M Wouters, B B R A F Wouters, I M L Augustin, F M E Franssen
PURPOSE OF REVIEW: The current review summarizes ongoing developments in personalized medicine and precision medicine in chronic obstructive pulmonary disease (COPD). Our current approach is far away of personalized management algorithms as current recommendations for COPD are largely based on a reductionist disease description, operationally defined by results of spirometry. RECENT FINDINGS: Besides precision medicine developments, a personalized medicine approach in COPD is described based on a holistic approach of the patient and considering illness as the consequence of dynamic interactions within and between multiple interacting and self-adjusting systems...
March 9, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28254546/relb-attenuates-cigarette-smoke-extract-induced-apoptosis-in-association-with-transcriptional-regulation-of-the-aryl-hydrocarbon-receptor
#8
Matthew Iu, Michela Zago, Angela Rico de Souza, Manuella Bouttier, Swati Pareek, John H White, Qutayba Hamid, David H Eidelman, Carolyn J Baglole
Chronic obstructive pulmonary disease (COPD) is a chronic and prevalent respiratory disease caused primarily by long term inhalation of cigarette smoke. A major hallmark of COPD is elevated apoptosis of structural lung cells including fibroblasts. The NF-κB member RelB may suppress apoptosis in response to cigarette smoke, but its role in lung cell survival is not known. RelB may act as a pro-survival factor by controlling the expression of superoxide dismutase 2 (SOD2). SOD2 is also regulated by the aryl hydrocarbon receptor (AhR), a ligand-activated transcription factor that suppresses cigarette smoke-induced apoptosis...
February 27, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28248572/transcriptomic-analysis-of-lung-tissue-from-cigarette-smoke-induced-emphysema-murine-models-and-human-copd-show-shared-and-distinct-pathways
#9
Jeong H Yun, Jarrett Morrow, Caroline A Owen, Weiliang Qiu, Kimberly Glass, Taotao Lao, Zhiqiang Jiang, Mark Perrella, Edwin K Silverman, Xiaobo Zhou, Craig P Hersh
Although cigarette smoke (CS) is the primary risk factor for chronic obstructive pulmonary disease (COPD), the underlying molecular mechanisms for the significant variability in developing COPD in response to CS are incompletely understood. We performed lung gene expression profiling of two different wild-type murine strains (C57BL/6, NZW/LacJ) and two genetic models with mutations in COPD genome-wide association study (GWAS) genes (HHIP, FAM13A) after six months of chronic CS exposure and compared the results to human COPD lung tissues...
March 1, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28248137/sex-specific-genetic-risk-factors-for-chronic-obstructive-pulmonary-disease
#10
Guy G Brusselle, Lies Lahousse
No abstract text is available yet for this article.
March 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28247183/the-challenges-of-precision-medicine-in-copd
#11
Mario Cazzola, Luigino Calzetta, Paola Rogliani, Maria Gabriella Matera
Pheno-/endotyping chronic obstructive pulmonary disease (COPD) is really important because it provides patients with precise and personalized medicine. The central concept of precision medicine is to take individual variability into account when making management decisions. Precision medicine should ensure that patients get the right treatment at the right dose at the right time, with minimum harmful consequences and maximum efficacy. Ideally, we should search for genetic and molecular biomarker-based profiles...
February 28, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28237967/heterozygous-vangl2-looptail-mice-reveal-novel-roles-for-the-planar-cell-polarity-pathway-in-adult-lung-homeostasis-and-repair
#12
Thanushiyan Poobalasingam, Laura L Yates, Simone A Walker, Miguel Pereira, Nina Y Gross, Akmol Ali, Maria Kolatsi-Joannou, Marjo-Riitta Jarvelin, Juha Pekkanen, Eugenia Papakrivopoulou, David A Long, Mark Griffiths, Darcy Wagner, Melanie Königshoff, Matthew Hind, Cosetta Minelli, Clare M Lloyd, Charlotte H Dean
Lung diseases impose a huge economic and health burden worldwide. A key aspect of several adult lung diseases, such as Idiopathic pulmonary fibrosis (IPF) and Chronic Obstructive pulmonary Disease (COPD), including emphysema, is aberrant tissue repair, which leads to an accumulation of damage and impaired respiratory function. Currently, there are few effective treatments available for these diseases and their incidence is rising.The Planar Cell Polarity (PCP) pathway is critical for the embryonic development of many organs, including kidney and lung...
February 24, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28217691/%C3%AE-1-antitrypsin-deficiency-a-misfolded-secretory-protein-variant-with-unique-effects-on-the-endoplasmic-reticulum
#13
David H Perlmutter
In the classical form of α1-antitrypsin deficiency (ATD) a point mutation leads to accumulation of a misfolded secretory glycoprotein in the endoplasmic reticulum (ER) of liver cells and so ATD has come to be considered a prototypical ER storage disease. It is associated with two major types of clinical disorders, chronic obstructive pulmonary disease (COPD) by loss-of-function mechanisms and hepatic cirrhosis and carcinogenesis by gain-of-function mechanisms. The lung disease predominantly results from proteolytic damage to the pulmonary connective tissue matrix because of reduced levels of protease inhibitor activity of α1-anitrypsin (AT) in the circulating blood and body fluids...
September 2016: Endoplasmic Reticulum Stress in Diseases
https://www.readbyqxmd.com/read/28199135/extreme-trait-whole-genome-sequencing-identifies-ptpro-as-a-novel-candidate-gene-in-emphysema-with-severe-airflow-obstruction
#14
Josiah E Radder, Yingze Zhang, Alyssa D Gregory, Shibing Yu, Neil J Kelly, Joseph K Leader, Naftali Kaminski, Frank C Sciurba, Steven D Shapiro
RATIONALE: Genetic association studies in chronic obstructive pulmonary disease (COPD) have primarily tested for association with common variants, the results of which explain only a portion of disease heritability. As rare variation is also likely to contribute to susceptibility, we employed whole genome sequencing (WGS) of subjects with clinically extreme phenotypes to identify genomic regions enriched for rare variation contributing to COPD susceptibility. OBJECTIVE: Identify regions of rare genetic variation contributing to emphysema with severe airflow obstruction Methods: We identified heavy smokers that were resistant (n=65) or susceptible (n=64) to emphysema with severe airflow obstruction in the Pittsburgh SCCOR cohort...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28199134/genetic-control-of-fatty-acid-%C3%AE-oxidation-in-chronic-obstructive-pulmonary-disease
#15
Zhiqiang Jiang, Nelson H Knudsen, Gang Wang, Weiliang Qiu, Zun Zar Chi Naing, Yan Bai, Xingbin Ai, Chih-Hao Lee, Xiaobo Zhou
Bioenergetics homeostasis is important for cells to sustain normal functions and defend against injury. Genetics controls on bioenergetics homeostasis, especially lipid metabolism remain poorly understood in chronic obstructive pulmonary diseases (COPD), the third leading cause of death in the world. Additionally, biological function of most susceptible genes identified from genome-wide association studies (GWAS) in COPD remains unclear. Here, we aim to address 1) how fatty acid oxidation, specifically β-oxidation (FAO), a key lipid metabolism pathway that provides energy to cells, contributes to cigarette smoke (CS)-induced COPD; and 2) whether and how FAM13A (family with sequence similarity 13 member A), a well-replicated COPD GWAS gene, modulates FAO pathway...
February 15, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28190657/cross-sectional-analysis-of-biobank-japan-clinical-data-a-large-cohort-of-200-000-patients-with-47-common-diseases
#16
Makoto Hirata, Yoichiro Kamatani, Akiko Nagai, Yutaka Kiyohara, Toshiharu Ninomiya, Akiko Tamakoshi, Zentaro Yamagata, Michiaki Kubo, Kaori Muto, Taisei Mushiroda, Yoshinori Murakami, Koichiro Yuji, Yoichi Furukawa, Hitoshi Zembutsu, Toshihiro Tanaka, Yozo Ohnishi, Yusuke Nakamura, Koichi Matsuda
BACKGROUND: To implement personalized medicine, we established a large-scale patient cohort, BioBank Japan, in 2003. BioBank Japan contains DNA, serum, and clinical information derived from approximately 200,000 patients with 47 diseases. Serum and clinical information were collected annually until 2012. METHODS: We analyzed clinical information of participants at enrollment, including age, sex, body mass index, hypertension, and smoking and drinking status, across 47 diseases, and compared the results with the Japanese database on Patient Survey and National Health and Nutrition Survey...
February 9, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28187782/sputum-dna-sequencing-in-cystic-fibrosis-non-invasive-access-to-the-lung-microbiome-and-to-pathogen-details
#17
Rounak Feigelman, Christian R Kahlert, Florent Baty, Frank Rassouli, Rebekka L Kleiner, Philipp Kohler, Martin H Brutsche, Christian von Mering
BACKGROUND: Cystic fibrosis (CF) is a life-threatening genetic disorder, characterized by chronic microbial lung infections due to abnormally viscous mucus secretions within airways. The clinical management of CF typically involves regular respiratory-tract cultures in order to identify pathogens and to guide treatment. However, culture-based methods can miss atypical or slow-growing microbes. Furthermore, the isolated microbes are often not classified at the strain level due to limited taxonomic resolution...
February 10, 2017: Microbiome
https://www.readbyqxmd.com/read/28186150/glcci1-rs37973-a-potential-genetic-predictor-of-therapeutic-response-to-inhaled-corticosteroids-in-chinese-chronic-obstructive-pulmonary-disease-patients
#18
Yuan Lei, Yiping Gao, Jinkun Chen, Miao Li, Xiaomei Wu, Qin Ning, Jianping Zhao, Weining Xiong, Yongjian Xu, Jungang Xie
Inhaled corticosteroids (ICSs) are widely prescribed in chronic obstructive pulmonary disease (COPD). However, little is known about predictors of ICSs therapeutic response. To investigate whether the variation in glucocorticoid-induced transcript 1 (GLCCI1) rs37973 is associated with ICS efficacy. A total of 204 clinically stable COPD patients were recruited and administered to inhaled fluticasone propionate/salmeterol combination (500/50 ug, twice daily) for 24 weeks. We genotyped the functional rs37973 and mainly assessed its effects on changes in lung function...
February 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28183273/phanerochaete-sordida-as-a-cause-of-pulmonary-nodule-in-an-immunocompromised-patient-a-case-report
#19
Naoki Watanabe, Kiyofumi Ohkusu, Masaya Okuda, Osamu Imataki, Tomoya Ishii, Kiyoshi Negayama, Akira Tadokoro, Nobuyuki Kita, Takehiro Takagi, Nobuhiro Kanaji, Norimitsu Kadowaki, Shuji Bandoh
BACKGROUND: Phanerochaete sordida is a species of wood rotting fungus, which can degrade lignin, cellulose and hemicellulose contained in wood and other hard-to-biodegrade organic substances. However, to date, there have been no other reports demonstrating that P. sordida can infect humans. CASE PRESENTATION: A 66-year-old Japanese man presented for a mass increasing in size on his left thigh. He had been suffering from rheumatoid arthritis for 18 years and chronic obstructive pulmonary disease for 20 years, for which he was being treated with 5 mg/day prednisolone and 8 mg/week methotrexate...
February 10, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28182144/-what-are-my-chances-of-developing-copd-if-one-of-my-parents-has-the-disease-a-systematic-review-and-meta-analysis-of-prevalence-of-co-occurrence-of-copd-diagnosis-in-parents-and-offspring
#20
REVIEW
Lok Sze Katrina Li, Catherine Paquet, Kylie Johnston, Marie T Williams
INTRODUCTION: Intergenerational associations in chronic obstructive pulmonary disease (COPD) have been well recognized and may result from genetic, gene environment, or exposure to life course factors. Consequently, adult offspring of parents with COPD may be at a greater risk of developing COPD. The aim of this study was to review the prevalence of co-occurrence of COPD in adult offspring with one or both parents having COPD independent of specific genetic variations. METHODS: In total, five databases were searched for original studies in which prevalence of COPD was reported in both offspring (children) and one or both parents...
2017: International Journal of Chronic Obstructive Pulmonary Disease
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