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COPD polymorphism

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https://www.readbyqxmd.com/read/28753063/association-between-adrb2-genetic-polymorphisms-and-the-risk-of-chronic-obstructive-pulmonary-disease-a-case-control-study-in-a-chinese-population
#1
Hui Zhao, Xuan Wu, Chun-Ling Dong, Bi-Ying Wang, Jiao Zhao, Xian-E Cao
OBJECTIVE: This study was designed to investigate the association between single nucleotide polymorphisms (SNPs) of the β2-adrenergic receptor (ADRB2) gene and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese population. METHODS: From January 2010 to October 2014, 261 COPD patients were selected as the case group and 239 healthy subjects were selected as the control group. Pulmonary function tests were performed to detect forced vital capacity (FVC), 1-s forced expiratory volume (FEV1), and FEV1/FVC (%)...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28738859/genes-and-pathways-underlying-susceptibility-to-impaired-lung-function-in-the-context-of-environmental-tobacco-smoke-exposure
#2
K de Jong, J M Vonk, M Imboden, L Lahousse, A Hofman, G G Brusselle, N M Probst-Hensch, D S Postma, H M Boezen
BACKGROUND: Studies aiming to assess genetic susceptibility for impaired lung function levels upon exposure to environmental tobacco smoke (ETS) have thus far focused on candidate-genes selected based on a-priori knowledge of potentially relevant biological pathways, such as glutathione S-transferases and ADAM33. By using a hypothesis-free approach, we aimed to identify novel susceptibility loci, and additionally explored biological pathways potentially underlying this susceptibility to impaired lung function in the context of ETS exposure...
July 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28692348/the-g-allele-of-mmp12-82-a%C3%A2-%C3%A2-g-promoter-polymorphism-as-a-protective-factor-for-copd-in-bulgarian-population
#3
Tanya Tacheva, Dimo Dimov, Elina Aleksandrova, Monika Bialecka, Maya Gulubova, Tatyana Vlaykova
Chronic inflammation and remodelling of the small airways are features related to chronic obstructive pulmonary disease (COPD). In the current study, we aimed to explore the possible role of MMP12 -82 A > G (rs2276109) promoter polymorphism in the development of COPD in a population from Bulgaria (167 patients with COPD and 119 control individuals). The genotype and allele distributions differed significantly between COPD patients and controls (p = .010 and p = .043, respectively, χ(2) test)...
July 10, 2017: Archives of Physiology and Biochemistry
https://www.readbyqxmd.com/read/28640141/smoking-status-and-gene-susceptibility-play-important-roles-in-the-development-of-chronic-obstructive-pulmonary-disease-and-lung-function-decline-a-population-based-prospective-study
#4
Junling Zhao, Miao Li, Jinkun Chen, Xiaomei Wu, Qin Ning, Jianping Zhao, Yongjian Xu, Jungang Xie, Jun Yu
BACKGROUND: We conducted this study to identify the influences and synergistic effects of smoking status and polymorphisms in hedgehog interacting protein (HHIP) on chronic obstructive pulmonary disease (COPD) and lung function decline. METHODS: A cohort containing 306 COPD patients and 743 healthy subjects was recruited from 25,000 subjects. All selected subjects had chronic cough for over 2 years or a smoking history above 20 pack-years. After 8 years, all subjects were divided into 2 cohorts according to whether they had quit smoking or not...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28546746/genetic-polymorphism-and-chronic-obstructive-pulmonary-disease
#5
REVIEW
Cunhua Yuan, De Chang, Guangming Lu, Xiaowei Deng
Chronic obstructive pulmonary disease (COPD) is a common chronic disease, and its morbidity and mortality are increasing. There are many studies that have tried to explain the pathogenesis of COPD from genetic susceptibility, to identify the susceptibility of COPD factors, which play a role in early prevention, early detection and the early treatment. However, it is well known that COPD is an inflammatory disease characterized by incomplete reversible airflow limitation in which genes interact with the environment...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28546273/mir-146a-5p-plays-an-essential-role-in-the-aberrant-epithelial-fibroblast-cross-talk-in-copd
#6
Emmanuel T Osei, Laura Florez-Sampedro, Hataitip Tasena, Alen Faiz, Jacobien A Noordhoek, Wim Timens, Dirkje S Postma, Tillie L Hackett, Irene H Heijink, Corry-Anke Brandsma
We previously reported that epithelial-derived interleukin (IL)-1α drives fibroblast-derived inflammation in the lung epithelial-mesenchymal trophic unit. Since miR-146a-5p has been shown to negatively regulate IL-1 signalling, we investigated the role of miR-146a-5p in the regulation of IL-1α-driven inflammation in chronic obstructive pulmonary disease (COPD).Human bronchial epithelial (16HBE14o-) cells were co-cultured with control and COPD-derived primary human lung fibroblasts (PHLFs), and miR-146a-5p expression was assessed with and without IL-1α neutralising antibody...
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28526204/the-786-t-c-polymorphism-of-nos3-gene-is-a-susceptibility-marker-of-copd-among-tunisians-that-correlates-with-nitric-oxide-levels-and-airflow-obstruction
#7
Hela Ben Nasr, Sarra Bchir, Amel Ben Anes, Asma Amri, Yosra Sakhana, Mohamed Benzarti, Abdelhamid Garrouch, Zouhair Tabka, Karim Chahed
OBJECTIVE: The goal of this study was to examine the role of G894T (rs1799983), -786T/C (rs3918161) and a 27 bp variable number of tandem repeats (VNTR) 4B/4A of NOS3 gene on the risk and severity of COPD. METHODS: The study included 194 controls and 138 COPD patients. NOS3 G894T, -786T/C and 4B/4A variants were determined by PCR analysis based on the banding pattern on gel electrophoresis. Pulmonary function was evaluated using body plethysmography. The levels of nitric oxide, peroxynitrite and lipid peroxides (T-BARS) were determined using spectrophotometric methods...
May 16, 2017: Cytokine
https://www.readbyqxmd.com/read/28496318/pri-microrna-124-rs531564-polymorphism-minor-allele-increases-the-risk-of-pulmonary-artery-hypertension-by-abnormally-enhancing-proliferation-of-pulmonary-artery-smooth-muscle-cells
#8
Quanzhong Li, Zongjie Qian, Linqing Wang
MicroRNA-124 (miR-124) has been reported to be downregulated in the cells exposed to hypoxia, which was confirmed in our study. We then used online microRNA target prediction tools to identify GRB2, SMAD5, and JAG1 as the candidate target genes of miR-124, and we next validated GRB2 as a direct gene by using luciferase reporter system. We also established the regulatory relationship between miR-124 and GRB2 by showing the negative linear relationship between GRB2 and miR-124 expression. Furthermore, we investigated the miR-124 and GRB2 expression levels of different genotypes including CC (n=30), GC (n=18), and GG (n=4), which supported the hypothesis that the presence of minor allele (C) of rs531564 polymorphism compromised the expression of miR-124...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28474623/ireb2-chrna5-chrna3-fam13a-hedgehog-interacting-protein-genes-polymorphisms-risk-of-chronic-obstructive-pulmonary-disease-in-tatar-population-from-russia
#9
Gulnaz Faritovna Korytina, Leysan Zinurovna Akhmadishina, Elena Vitalievna Viktorova, Olga Vladimirovna Kochetova, Tatyana Victorovna Viktorova
BACKGROUND & OBJECTIVES: Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease of the respiratory system affecting primarily distal respiratory pathways and lung parenchyma. This study was aimed at investigating the association of COPD with IREB2, CHRNA5, CHRNA3, FAM13A and hedgehog interacting protein (HHIP) genes in a Tatar population from Russia. METHODS: Six single nucleotide polymorphisms (SNPs) (rs13180, rs16969968, rs1051730, rs6495309, rs7671167, rs13118928) were genotyped by the real-time polymerase chain reaction in this study (511 COPD patients and 508 controls)...
December 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28464990/ephx1-y113h-polymorphism-is-associated-with-increased-risk-of-chronic-obstructive-pulmonary-disease-in-kazakhstan-population
#10
Almira Akparova, Balkiya Abdrakhmanova, Nilanjana Banerjee, Rakhmetkazhy Bersimbaev
Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long term poor airflow which worsens over time. It is considered to be one of the top five chronic diseases of the world in terms of morbidity and mortality. Genetic variability has been found to contribute to the development of COPD. Although association between gene polymorphisms in EPHX1 and TNF-a genes and chronic obstructive pulmonary disease (COPD) have been found but till date no genetic association studies have been done in the COPD affected Kazakhstan population...
April 2017: Mutation Research. Genetic Toxicology and Environmental Mutagenesis
https://www.readbyqxmd.com/read/28464818/sulfatase-modifying-factor-1-sumf1-is-associated-with-chronic-obstructive-pulmonary-disease
#11
Julie Weidner, Linnea Jarenbäck, Kim de Jong, Judith M Vonk, Maarten van den Berge, Corry-Anke Brandsma, H Marike Boezen, Don Sin, Yohan Bossé, David Nickle, Jaro Ankerst, Leif Bjermer, Dirkje S Postma, Alen Faiz, Ellen Tufvesson
BACKGROUND: It has been observed that mice lacking the sulfatase modifying factor (Sumf1) developed an emphysema-like phenotype. However, it is unknown if SUMF1 may play a role in Chronic Obstructive Pulmonary Disease (COPD) in humans. The aim was to investigate if the expression and genetic regulation of SUMF1 differs between smokers with and without COPD. METHODS: SUMF1 mRNA was investigated in sputum cells and whole blood from controls and COPD patients (all current or former smokers)...
May 2, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28431562/effects-of-the-common-polymorphism-in-the-human-aldehyde-dehydrogenase-2-aldh2-gene-on-the-lung
#12
Aoi Kuroda, Ahmed E Hegab, Gao Jingtao, Shuji Yamashita, Nobuyuki Hizawa, Tohru Sakamoto, Hideyasu Yamada, Satoshi Suzuki, Makoto Ishii, Ho Namkoong, Takanori Asakura, Mari Ozaki, Hiroyuki Yasuda, Junko Hamamoto, Shizuko Kagawa, Kenzo Soejima, Tomoko Betsuyaku
BACKGROUND: Aldehyde dehydrogenases (ALDHs) play a major role in detoxification of aldehydes. High expression of ALDHs is a marker for stem cells of many organs including the lungs. A common polymorphism in ALDH2 gene (ALDH2*2) results in inactivation of the enzyme and is associated with alcohol flushing syndrome and increased risk for cardiovascular and Alzheimer's diseases and some cancers. The effect of this ALDH2 polymorphism on the lung and its stem cells has not been thoroughly examined...
April 21, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28429897/single-nucleotide-polymorphisms-v4-and-t1-of-the-adam33-gene-in-venezuelan-patients-with-asthma-or-chronic-obstructive-pulmonary-disease
#13
Daniela Martínez, Diego Lema, Dolores Del Carmen Moreno, Alexis Hipólito García, Jenny Valentina Garmendia, Juan Bautista De Sanctis
ADAM33 is a metalloproteinase important in the extracellular matrix for tissue remodeling, and, consequently, in asthma and chronic obstructive pulmonary disease (COPD). Several polymorphisms of the ADAM33 gene have been associated with enzyme activity. One of the most studied polymorphisms is V4, cytosine for guanine in the 3 'UTR region, and T1, adenine for guanine in the exon 19 of the gen. The aim of this study was to ascertain the possible association among single polymorphisms of ADAM33, V4 and T1, in Venezuelan patients with asthma or COPD...
June 2016: Investigación Clínica
https://www.readbyqxmd.com/read/28410559/the-irony-of-iron-overload-and-iron-deficiency-in-chronic-obstructive-pulmonary-disease
#14
Suzanne M Cloonan, Sharon Mumby, Ian M Adcock, Augustine M K Choi, Kian Fan Chung, Gregory J Quinlan
Chronic obstructive pulmonary disease (COPD) is a debilitating inflammatory lung disease associated with cigarette smoking and is third leading cause of death worldwide. With the recent emergence of genome wide association studies (GWAS), the identification of multiple COPD susceptibility genes has enhanced and expanded our understanding of the pathogenic mechanisms associated with this debilitating lung disease. An example of such a pathogenic mechanism is the role of iron metabolism in the onset and progression of COPD...
April 14, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28371857/association-of-the-dbh-polymorphism-rs3025343-with-smoking-cessation-in-a-large-population-based-sample
#15
Katariina Hirvonen, Tellervo Korhonen, Veikko Salomaa, Satu Männistö, Jaakko Kaprio
Introduction: Genetic variations in DBH-gene and its surroundings have been shown to associate with smoking behavior including smoking cessation in several studies. In this study we replicate and measure the effect size for association between DBH polymorphism rs3025343 and smoking cessation in a large population-based sample while examining environmental factors that could relate to the association. Methods: We studied 11,926 adult subjects from four surveys of the National FINRISK Study...
March 22, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28366820/immune-related-gene-polymorphisms-in-pulmonary-diseases
#16
REVIEW
Dhirendra P Singh, Prathyusha Bagam, Malaya K Sahoo, Sanjay Batra
Between the DNA sequences of two randomly-selected human genomes, which consist of over 3 billion base pairs and twenty five thousand genes, there exists only 0.1% variation and 99.9% sequence identity. During the last couple of decades, extensive genome-wide studies have investigated the association between single-nucleotide polymorphisms (SNPs), the most common DNA variations, and susceptibility to various diseases. Because the immune system's primary function is to defend against myriad infectious agents and diseases, the large number of people who escape serious infectious diseases underscores the tremendous success of this system at this task...
May 15, 2017: Toxicology
https://www.readbyqxmd.com/read/28360516/association-between-rtel1-gene-polymorphisms-and-copd-susceptibility-in-a-chinese-han-population
#17
Yipeng Ding, Heping Xu, Jinjian Yao, Dongchuan Xu, Ping He, Shengyang Yi, Quanni Li, Yuanshui Liu, Cibing Wu, Zhongjie Tian
OBJECTIVE: We investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (RTEL1), which has been associated with telomere length in several brain cancers and age-related diseases, and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese Han population. METHODS: In a case-control study that included 279 COPD cases and 290 healthy controls, five single-nucleotide polymorphisms in RTEL1 were selected and genotyped using the Sequenom MassARRAY platform...
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
#18
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 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28321311/ace-and-response-to-pulmonary-rehabilitation-in-copd-two-observational-studies
#19
Samantha S C Kon, Caroline J Jolley, Dinesh Shrikrishna, Hugh E Montgomery, James R A Skipworth, Zudin Puthucheary, John Moxham, Michael I Polkey, William D-C Man, Nicholas S Hopkinson
INTRODUCTION: Skeletal muscle impairment is an important feature of chronic obstructive pulmonary disease (COPD). Renin-angiotensin system activity influences muscle phenotype, so we wished to investigate whether it affects the response to pulmonary rehabilitation. METHODS: Two studies are described; in the first, the response of 168 COPD patients (mean forced expiratory volume in one second 51.9% predicted) to pulmonary rehabilitation was compared between different ACE insertion/deletion polymorphism genotypes...
2017: BMJ Open Respiratory Research
https://www.readbyqxmd.com/read/28315337/p53-signaling-pathway-polymorphisms-associated-with-emphysematous-changes-in-copd-patients
#20
Shiro Mizuno, Takeshi Ishizaki, Maiko Kadowaki, Masaya Akai, Kohei Shiozaki, Masaharu Iguchi, Taku Oikawa, Ken Nakagawa, Kazuhiro Osanai, Hirohisa Toga, Jose Gomez-Arroyo, Donatas Kraskauskas, Carlyne D Cool, Herman J Bogaard, Norbert F Voelkel
BACKGROUND: The p53 signaling pathway may be important for the pathogenesis of emphysematous changes in the lungs of smokers. Polymorphism of p53 at codon 72 is known to affect apoptotic effector proteins, and the polymorphism of mouse double minute 2 homolog (MDM2) SNP309 is known to increase MDM2 expression. The aim of this study was to assess polymorphisms of the p53 and MDM2 genes in smokers and confirm the role of SNPs in these genes in the pathogenesis of pulmonary emphysema. METHODS: 365 patients with a smoking history were included in this study, and the polymorphisms of p53 and MDM2 genes were identified...
March 14, 2017: Chest
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