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https://www.readbyqxmd.com/read/28217691/%C3%AE-1-antitrypsin-deficiency-a-misfolded-secretory-protein-variant-with-unique-effects-on-the-endoplasmic-reticulum
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28179328/frequency-of-epidermal-growth-factor-receptor-mutation-in-smokers-with-lung-cancer-without-pulmonary-emphysema
#9
Kenichi Takeda, Akira Yamasaki, Tadashi Igishi, Yuji Kawasaki, Shizuka Ito-Nishii, Hiroki Izumi, Tomohiro Sakamoto, Hirokazu Touge, Masahiro Kodani, Haruhiko Makino, Masaaki Yanai, Natsumi Tanaka, Shingo Matsumoto, Kunio Araki, Hiroshige Nakamura, Eiji Shimizu
BACKGROUND: Chronic obstructive pulmonary disease is a smoking-related disease, and is categorized into the emphysema and airway dominant phenotypes. We examined the relationship between emphysematous changes and epidermal growth factor receptor (EGFR) mutation status in patients with lung adenocarcinoma. PATIENTS AND METHODS: The medical records for 250 patients with lung adenocarcinoma were retrospectively reviewed. All patients were categorized into the emphysema or non-emphysema group...
2017: Anticancer Research
https://www.readbyqxmd.com/read/28174340/genetic-variants-affecting-cross-sectional-lung-function-in-adults-show-little-or-no-effect-on-longitudinal-lung-function-decline
#10
Catherine John, María Soler Artigas, Jennie Hui, Sune Fallgaard Nielsen, Nicholas Rafaels, Peter D Paré, Nadia N Hansel, Nick Shrine, Iain Kilty, Anders Malarstig, Scott A Jelinsky, Signe Vedel-Krogh, Kathleen Barnes, Ian P Hall, John Beilby, Arthur W Musk, Børge G Nordestgaard, Alan James, Louise V Wain, Martin D Tobin
BACKGROUND: Genome-wide association studies have identified numerous genetic regions that influence cross-sectional lung function. Longitudinal decline in lung function also includes a heritable component but the genetic determinants have yet to be defined. OBJECTIVES: We aimed to determine whether regions associated with cross-sectional lung function were also associated with longitudinal decline and to seek novel variants which influence decline. METHODS: We analysed genome-wide data from 4167 individuals from the Busselton Health Study cohort, who had undergone spirometry (12 695 observations across eight time points)...
February 7, 2017: Thorax
https://www.readbyqxmd.com/read/28170284/genetic-association-and-risk-scores-in-a-copd-meta-analysis-of-16-707-subjects
#11
Robert Busch, Brian D Hobbs, Jin Zhou, Peter J Castaldi, Michael J McGeachie, Megan E Hardin, Iwona Hawrylkiewicz, Pawel Sliwinski, Jae-Joon Yim, Woo Jin Kim, Deog K Kim, Alvar Agusti, Barry J Make, James D Crapo, Peter M Calverley, Claudio F Donner, David A Lomas, Emiel F M Wouters, Jørgen Vestbo, Ruth Tal-Singer, Per Bakke, Amund Gulsvik, Augusto A Litonjua, David Sparrow, Peter D Paré, Robert D Levy, Stephen I Rennard, Terri H Beaty, John Hokanson, Edwin K Silverman, Michael H Cho
The heritability of chronic obstructive pulmonary disease (COPD) cannot be fully explained by recognized genetic risk factors identified as achieving genome-wide significance. In addition, the combined contribution of genetic variation to COPD risk has not been fully explored. We sought to determine 1) whether studies of variants from previous studies of COPD or lung function in a larger sample could identify additional associated variants, particularly for severe COPD, and 2) the impact of genetic risk scores on COPD...
February 7, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28166215/genetic-loci-associated-with-chronic-obstructive-pulmonary-disease-overlap-with-loci-for-lung-function-and-pulmonary-fibrosis
#12
Brian D Hobbs, Kim de Jong, Maxime Lamontagne, Yohan Bossé, Nick Shrine, María Soler Artigas, Louise V Wain, Ian P Hall, Victoria E Jackson, Annah B Wyss, Stephanie J London, Kari E North, Nora Franceschini, David P Strachan, Terri H Beaty, John E Hokanson, James D Crapo, Peter J Castaldi, Robert P Chase, Traci M Bartz, Susan R Heckbert, Bruce M Psaty, Sina A Gharib, Pieter Zanen, Jan W Lammers, Matthijs Oudkerk, H J Groen, Nicholas Locantore, Ruth Tal-Singer, Stephen I Rennard, Jørgen Vestbo, Wim Timens, Peter D Paré, Jeanne C Latourelle, Josée Dupuis, George T O'Connor, Jemma B Wilk, Woo Jin Kim, Mi Kyeong Lee, Yeon-Mok Oh, Judith M Vonk, Harry J de Koning, Shuguang Leng, Steven A Belinsky, Yohannes Tesfaigzi, Ani Manichaikul, Xin-Qun Wang, Stephen S Rich, R Graham Barr, David Sparrow, Augusto A Litonjua, Per Bakke, Amund Gulsvik, Lies Lahousse, Guy G Brusselle, Bruno H Stricker, André G Uitterlinden, Elizabeth J Ampleford, Eugene R Bleecker, Prescott G Woodruff, Deborah A Meyers, Dandi Qiao, David A Lomas, Jae-Joon Yim, Deog Kyeom Kim, Iwona Hawrylkiewicz, Pawel Sliwinski, Megan Hardin, Tasha E Fingerlin, David A Schwartz, Dirkje S Postma, William MacNee, Martin D Tobin, Edwin K Silverman, H Marike Boezen, Michael H Cho
Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10(-6)) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 13 new associations with COPD. Nine of these 13 loci have been associated with lung function in general population samples, while 4 (EEFSEC, DSP, MTCL1, and SFTPD) are new...
February 6, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28166213/genome-wide-association-analyses-for-lung-function-and-chronic-obstructive-pulmonary-disease-identify-new-loci-and-potential-druggable-targets
#13
Louise V Wain, Nick Shrine, María Soler Artigas, A Mesut Erzurumluoglu, Boris Noyvert, Lara Bossini-Castillo, Ma'en Obeidat, Amanda P Henry, Michael A Portelli, Robert J Hall, Charlotte K Billington, Tracy L Rimington, Anthony G Fenech, Catherine John, Tineka Blake, Victoria E Jackson, Richard J Allen, Bram P Prins, Archie Campbell, David J Porteous, Marjo-Riitta Jarvelin, Matthias Wielscher, Alan L James, Jennie Hui, Nicholas J Wareham, Jing Hua Zhao, James F Wilson, Peter K Joshi, Beate Stubbe, Rajesh Rawal, Holger Schulz, Medea Imboden, Nicole M Probst-Hensch, Stefan Karrasch, Christian Gieger, Ian J Deary, Sarah E Harris, Jonathan Marten, Igor Rudan, Stefan Enroth, Ulf Gyllensten, Shona M Kerr, Ozren Polasek, Mika Kähönen, Ida Surakka, Veronique Vitart, Caroline Hayward, Terho Lehtimäki, Olli T Raitakari, David M Evans, A John Henderson, Craig E Pennell, Carol A Wang, Peter D Sly, Emily S Wan, Robert Busch, Brian D Hobbs, Augusto A Litonjua, David W Sparrow, Amund Gulsvik, Per S Bakke, James D Crapo, Terri H Beaty, Nadia N Hansel, Rasika A Mathias, Ingo Ruczinski, Kathleen C Barnes, Yohan Bossé, Philippe Joubert, Maarten van den Berge, Corry-Anke Brandsma, Peter D Paré, Don D Sin, David C Nickle, Ke Hao, Omri Gottesman, Frederick E Dewey, Shannon E Bruse, David J Carey, H Lester Kirchner, Stefan Jonsson, Gudmar Thorleifsson, Ingileif Jonsdottir, Thorarinn Gislason, Kari Stefansson, Claudia Schurmann, Girish Nadkarni, Erwin P Bottinger, Ruth J F Loos, Robin G Walters, Zhengming Chen, Iona Y Millwood, Julien Vaucher, Om P Kurmi, Liming Li, Anna L Hansell, Chris Brightling, Eleftheria Zeggini, Michael H Cho, Edwin K Silverman, Ian Sayers, Gosia Trynka, Andrew P Morris, David P Strachan, Ian P Hall, Martin D Tobin
Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (∼6 alleles) (95% confidence interval) = 1...
February 6, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28161533/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-patients-with-chronic-obstructive-pulmonary-disease-in-london-uk
#14
David A Jolliffe, Wai Yee James, Richard L Hooper, Neil C Barnes, Claire L Greiller, Kamrul Islam, Angshu Bhowmik, Peter M Timms, Raj K Rajakulasingam, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Robert T Walton, Christopher J Corrigan, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in patients with chronic obstructive pulmonary disease (COPD), yet a comprehensive analysis of environmental and genetic determinants of serum 25-hydroxyvitamin D (25[OH]D) concentration in patients with this condition is lacking. We conducted a multi-centre cross-sectional study in 278 COPD patients aged 41-92 years in London, UK. Details of potential environmental determinants of vitamin D status and COPD symptom control and severity were collected by questionnaire, and blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction...
February 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28120412/rare-variant-of-map2k7-is-associated-with-increased-risk-of-copd-in-southern-and-eastern-chinese
#15
Fuman Qiu, Yinyan Li, Xiaoxiao Lu, Chenli Xie, Qingqing Nong, Di Wu, Jiansong Chen, Lei Yang, Yifeng Zhou, Jiachun Lu
BACKGROUND AND OBJECTIVE: A wide range of common loci have been extensively screened and evaluated for their associations with various complex diseases; however, the relevance of rare variants causing missense substitutions in the protein-coding genes in human diseases is still poorly understood. METHODS: In this study, we conducted a two-stage retrospective study of a total of 1791 patients with COPD and 1940 controls in southern and eastern Chinese to test relevancies of five rare variants (i...
January 24, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28114305/targeted-sequencing-of-lung-function-loci-in-chronic-obstructive-pulmonary-disease-cases-and-controls
#16
María Soler Artigas, Louise V Wain, Nick Shrine, Tricia M McKeever, Ian Sayers, Ian P Hall, Martin D Tobin
Chronic obstructive pulmonary disease (COPD) is the third leading cause of death worldwide; smoking is the main risk factor for COPD, but genetic factors are also relevant contributors. Genome-wide association studies (GWAS) of the lung function measures used in the diagnosis of COPD have identified a number of loci, however association signals are often broad and collectively these loci only explain a small proportion of the heritability. In order to examine the association with COPD risk of genetic variants down to low allele frequencies, to aid fine-mapping of association signals and to explain more of the missing heritability, we undertook a targeted sequencing study in 300 COPD cases and 300 smoking controls for 26 loci previously reported to be associated with lung function...
2017: PloS One
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#17
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28044437/body-mass-index-change-in-gastrointestinal-cancer-and-chronic-obstructive-pulmonary-disease-is-associated-with-dedicator-of-cytokinesis-1
#18
Merry-Lynn Noelle McDonald, Sungho Won, Manuel Mattheisen, Peter J Castaldi, Michael H Cho, Erica Rutten, Megan Hardin, Wai-Ki Yip, Stephen I Rennard, David A Lomas, Emiel F M Wouters, Alvar Agusti, Richard Casaburi, Christoph P Lange, George O'Connor, Craig P Hersh, Edwin K Silverman
BACKGROUND: There have been a number of candidate gene association studies of cancer cachexia-related traits, but no genome-wide association study (GWAS) has been published to date. Cachexia presents in patients with a number of complex traits, including both cancer and COPD. The objective of the current investigation was to search for a shared genetic aetiology for change in body mass index (ΔBMI) among cancer and COPD by using GWAS data in the Framingham Heart Study. METHODS: A linear mixed effects model accounting for age, sex, and change in smoking status was used to calculate ΔBMI in participants over 40 years of age with three consecutive BMI time points (n = 4162)...
January 2, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28024128/-pathogenesis-diagnosis-and-treatment-of-chronic-obstructive-pulmonary-disease-in-the-light-of-new-research
#19
EDITORIAL
Tadeusz Płusa
Accurate number of patients with chronic obtructive pulmonary disease (COPD) is difficult to determine, both in Poland and in the world. Quoted estimates and fragmented with the research indicate that approx. 10% of the world's population may be burdened by this disease. As it turns out, COPD is recognized in 25-45% in non-smokers, suggesting a genetic link. This is confirmed by new data that indicates that further embodiments having genetic polymorphisms associated with the occurrence of the disease. It was further found that the allele GC-1F vitamin D were risk factor for development of COPD...
December 22, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28009152/lung-tumors-copd-and-immune-response-is-epigenetics-the-bottom-line
#20
Elisabetta Balestro, Simonetta Baraldo, Davide Piloni, Giulia M Stella
NSCLC is a heterogeneous disorder consisting of distinct molecular subtypes which can be treated by using specific drugs targeted to distinct genetic lesions. It is well known that NSCLS incidence is higher in chronic obstructive pulmonary disease (COPD) patients because they share a common risk factor (cigarette smoking) and it is believed that the typical inflammatory microenvironment observed in COPD may influence the molecular mechanisms responsible of carcinogenesis. In the last years, the role of epigenetic processes in cell biology and tissue pathology has been extensively studied both in COPD and NSCLC...
December 2016: Minerva Medica
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