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https://www.readbyqxmd.com/read/28093224/beta-2-adrenoreceptor-polymorphism-at-position-16-determines-the-clinical-severity-of-chronic-obstructive-pulmonary-disease
#1
Justyna Emeryk-Maksymiuk, Andrzej Emeryk, Paweł Krawczyk, Kamila Wojas-Krawczyk, Janusz Milanowski
The Arg/Arg homozygosity at codon 16 of the beta-2-adrenoreceptor (ADRB2) gene has been thought to predispose asthma patients to a poorer therapeutic response to beta-2-mimetics, or to worse control of the disease. In contrast, the results of the studies analysing the effect of ADRB2 polymorphisms on the response to beta-2-adrenoreceptor agonists in chronic obstructive pulmonary disease (COPD) patients are sparse and inconclusive. The aim of this research was to verify if p.Arg16Gly (c.46A > G) and p.Gly27Glu (c...
January 13, 2017: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28060702/a-bayesian-nonparametric-model-for-disease-subtyping-application-to-emphysema-phenotypes
#2
James C Ross, Peter J Castaldi, Michael H Cho, Junxiang Chen, Yale Chang, Jennifer G Dy, Edwin K Silverman, George R Washko, Raul San Jose Estepar
We introduce a novel Bayesian nonparametric model that uses the concept of disease trajectories for disease subtype identification. Although our model is general, we demonstrate that by treating fractions of tissue patterns derived from medical images as compositional data, our model can be applied to study distinct progression trends between population subgroups. Specifically, we apply our algorithm to quantitative emphysema measurements obtained from chest CT scans in the COPDGene Study and show several distinct progression patterns...
January 2017: IEEE Transactions on Medical Imaging
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
#3
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/28025440/toll-like-receptor-4-polymorphism-is-associated-with-increased-susceptibility-to-chronic-obstructive-pulmonary-disease-in-han-chinese-patients-with-chronic-periodontitis
#4
Hui Yu, Mei Lin, Xuejin Wang, Songling Wang, Zuomin Wang
The aim of the present study was to evaluate the association of single nucleotide polymorphisms (SNPs) in toll-like receptor 4 (TLR4) with chronic obstructive pulmonary disease (COPD) in Han Chinese patients with chronic periodontitis (CP). Six candidate SNPs of TLR4-rs10759930, rs10983755, rs11536879, rs1927907, rs11536889 and rs7873784-and 18 haplotype-tagging SNPs (tagSNPs) were genotyped in 339 patients with chronic periodontitis only (CP group), and 373 CP patients with COPD (CP with COPD group). The genotype distribution and allele frequencies of TLR4 rs1927907 among the CP (AA: 26, 8...
2016: Journal of Oral Science
https://www.readbyqxmd.com/read/28024507/-correlation-of-thrombosis-and-prothrombotic-state-with-coagulation-factor-v-gene-polymorphism-and-apcr-hhcy
#5
Li-Xia Gao, Qiu-Lan Ding, Ke-Xiong Wu, Jun Hu, Xue-Feng Wang, Chuan-Ling Dong, Qin Dai, Bing Zhang, Jin Dai, Ping He, Xue-Ping Zhang, Yun-Xia Wang
OBJECTIVE: To investigate the correlation of patients with thrombosis or prothrombotic status with hyperhomocysteinemia (HHcy), activated protein C-resistance(APCR) and gene polymorphism of coagulation factor V. METHODS: Three hundred healthy voluteers were selected as controls, 223 cases of thrombosis (80 cases of cerebral infarction of CT, the MI of 82 cases of myocardial infarction, venous thrombosis of VTE 61 cases), 270 cases of patients with prothrombotic state (76 cases of pregnancy disease of PIH, 62 cases of chronic obstructive pulmonary disease (COPD), 60 cases of diabetes(DM) and 72 cases of cancer) were enrolled in this study...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28024128/-pathogenesis-diagnosis-and-treatment-of-chronic-obstructive-pulmonary-disease-in-the-light-of-new-research
#6
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/27998018/genetic-polymorphism-of-heme-oxygenase-1-promoter-in-the-occurrence-and-severity-of-chronic-obstructive-pulmonary-disease-a-meta-analysis
#7
Hongbin Zhou, Xiwang Ying, Yuanshun Liu, Sa Ye, Jianping Yan, Yaqing Li
Heme oxygenase 1 (HMOX1) plays an important role in the development of chronic obstructive pulmonary disease (COPD). However, the association of HMOX1 length polymorphism in promoter region to the risk and severity of COPD has not been well studied. In this study, we searched the databases including PubMed, EMBASE, Cochrane Library and China National Knowledge Infrastructure (CNKI) and extracted the information from related articles. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to study the effect of HMOX1 polymorphism on the risk and severity of COPD...
December 20, 2016: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/27909766/association-between-tlr2-tlr4-gene-polymorphisms-and-copd-phenotype-in-a%C3%A2-greek-cohort
#8
A Apostolou, T Kerenidi, A Michopoulos, K I Gourgoulianis, M Noutsias, A E Germenis, M Speletas
BACKGROUND: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of innate immune genes affect the disease phenotype and prognosis. AIM: To elucidate the contribution of common functional TLR2 and TLR4 SNPs and genotypic deficiency of the mannose-binding lectin (MBL) protein, both as single parameters and in combination, in Greek COPD patients...
December 1, 2016: Herz
https://www.readbyqxmd.com/read/27878892/influence-of-siglec9-polymorphisms-on-copd-phenotypes-including-exacerbation-frequency
#9
Takeo Ishii, Takashi Angata, Emily S Wan, Michael H Cho, Takashi Motegi, Congxiao Gao, Kazuaki Ohtsubo, Shinobu Kitazume, Akihiko Gemma, Peter D ParÉ, David A Lomas, Edwin K Silverman, Naoyuki Taniguchi, Kozui Kida
BACKGROUND AND OBJECTIVE: The exacerbation-prone phenotype of COPD is particularly important, as exacerbations lead to poor quality of life and disease progression. We previously found that COPD patients who lack Siglec-14, a myeloid cell protein that recognizes bacteria and triggers inflammatory responses, are less prone to exacerbation. We hypothesized that the variations in other SIGLEC genes could also influence COPD exacerbation frequency, and investigated the association between SIGLEC9 polymorphisms and the exacerbation-prone phenotype of COPD...
November 22, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/27856929/serpine1-844-and-675-polymorphisms-and-chronic-obstructive-pulmonary-disease-in-a-chinese-han-population
#10
Xia Xu, Hongchao Wang, Haijun Li, Xiaopei Cui, Hongyu Zhang
OBJECTIVE: To investigate the association between serpin family E member 1 (SERPINE1) -844 A/G and -675 4G/5G polymorphisms and chronic obstructive pulmonary disease (COPD) in a Chinese Han population. METHOD: SERPINE1 -844 A/G and -675 4G/5G polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism sequencing of genomic DNA from patients with COPD and healthy smoking controls. RESULTS: Out of 140 patients with COPD and 100 controls, all SERPINE1 -844 and -675 polymorphisms were in Hardy-Weinberg equilibrium...
November 17, 2016: Journal of International Medical Research
https://www.readbyqxmd.com/read/27830153/genetic-polymorphism-of-angiotensin-converting-enzyme-and-chronic-obstructive-pulmonary-disease-risk-an-updated-meta-analysis
#11
REVIEW
Sang Wook Kang, Su Kang Kim, Joo-Ho Chung, Hee-Jae Jung, Kwan-Il Kim, Jinju Kim, Ju Yeon Ban
The relationship between polymorphism of the angiotensin I converting enzyme (ACE) gene and chronic obstructive pulmonary disease (COPD) has been examined in many previous studies. However, their results were controversial. Therefore, we performed a meta-analysis to evaluate the relationship between the ACE gene and the risk of COPD. Fourteen case-control studies were included in this meta-analysis. The pooled p value, odds ratio (OR), and 95% confidence interval (95% CI) were used to investigate the strength of the association...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27789940/trpm8-genetic-variations-associated-with-copd-risk-in-the-chinese-han-population
#12
Mingmei Xiong, Jian Wang, Meihua Guo, Qipeng Zhou, Wenju Lu
TRPM8 plays a key role in COPD. The development of pulmonary hypertension (PH) in COPD adversely affects survival and exercise capacity. Thus, the aim of this study was to evaluate the possible association between single nucleotide polymorphisms (SNPs) in TRPM8 and COPD or PH in COPD among the Chinese Han population. A total of 513 COPD patients and 506 controls were enrolled in the study. Six tag SNPs (tSNPs) were genotyped. The relationship between COPD or PH in COPD and the six tSNPs was evaluated using the χ(2) test and genetic model analysis...
2016: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/27755550/the-ser82-rage-variant-affects-lung-function-and-serum-rage-in-smokers-and-srage-production-in-vitro
#13
Suzanne Miller, Amanda P Henry, Emily Hodge, Alexander K Kheirallah, Charlotte K Billington, Tracy L Rimington, Sangita K Bhaker, Ma'en Obeidat, Erik Melén, Simon K Merid, Caroline Swan, Catherine Gowland, Carl P Nelson, Ceri E Stewart, Charlotte E Bolton, Iain Kilty, Anders Malarstig, Stuart G Parker, Miriam F Moffatt, Andrew J Wardlaw, Ian P Hall, Ian Sayers
INTRODUCTION: Genome-Wide Association Studies have identified associations between lung function measures and Chronic Obstructive Pulmonary Disease (COPD) and chromosome region 6p21 containing the gene for the Advanced Glycation End Product Receptor (AGER, encoding RAGE). We aimed to (i) characterise RAGE expression in the lung, (ii) identify AGER transcripts, (iii) ascertain if SNP rs2070600 (Gly82Ser C/T) is associated with lung function and serum sRAGE levels and (iv) identify whether the Gly82Ser variant is functionally important in altering sRAGE levels in an airway epithelial cell model...
2016: PloS One
https://www.readbyqxmd.com/read/27730172/genetic-regulation-of-expression-of-leukotriene-a4-hydrolase
#14
Tomasz Szul, Peter Castaldi, Michael H Cho, J Edwin Blalock, Amit Gaggar
In chronic inflammatory lung disorders such as chronic obstructive pulmonary disease (COPD), the concurrent organ-specific and systemic inflammatory responses lead to airway remodelling and vascular dysfunction. Although a major common risk factor for COPD, cigarette smoke alone cannot explain the progression of this disease; there is increasing evidence that genetic predisposition also plays a role in COPD susceptibility and progression. A key enzyme in chronic lung inflammation is leukotriene A4 hydrolase (LTA4H)...
January 2016: ERJ Open Research
https://www.readbyqxmd.com/read/27669027/genome-wide-association-study-of-the-genetic-determinants-of-emphysema-distribution
#15
Adel Boueiz, Sharon M Lutz, Michael H Cho, Craig P Hersh, Russell P Bowler, George R Washko, Eitan Halper-Stromberg, Per Bakke, Amund Gulsvik, Nan M Laird, Terri H Beaty, Harvey O Coxson, James D Crapo, Edwin K Silverman, Peter J Castaldi, Dawn L DeMeo
RATIONALE: Emphysema has considerable variability in the severity and distribution of parenchymal destruction throughout the lungs. Upper lobe predominant emphysema has emerged as an important predictor of response to lung volume reduction surgery. Yet, aside from alpha-1 antitrypsin deficiency, the genetic determinants of emphysema distribution remain largely unknown. OBJECTIVES: To identify the genetic influences of emphysema distribution in non-alpha-1 antitrypsin deficient smokers...
September 26, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27573645/evaluation-of-genetic-diversity-of-candida-spp-and-klebsiella-spp-isolated-from-the-denture-plaque-of-copd-patients
#16
D Przybyłowska, K Piskorska, M Gołaś, M Sikora, E Swoboda-Kopeć, J Kostrzewa-Janicka, E Mierzwińska-Nastalska
Yeast-like fungi and gram-negative bacilli are the most frequent potential pathogens of the respiratory tract isolated from the denture plaque of patients with chronic obstructive pulmonary disease (COPD). Dominant species among yeast-like fungi are Candida albicans and Candida tropicalis. Significant frequency is also exhibited by Klebsiella pneumoniae and Klebsiella oxytoca. The purpose of this study was to analyze genetic diversity of the strains of C. albicans, C. tropicalis, and Klebsiella spp. present in patients in stable phases of COPD...
August 30, 2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27532455/common-genetic-polymorphisms-influence-blood-biomarker-measurements-in-copd
#17
Wei Sun, Katerina Kechris, Sean Jacobson, M Bradley Drummond, Gregory A Hawkins, Jenny Yang, Ting-Huei Chen, Pedro Miguel Quibrera, Wayne Anderson, R Graham Barr, Patricia V Basta, Eugene R Bleecker, Terri Beaty, Richard Casaburi, Peter Castaldi, Michael H Cho, Alejandro Comellas, James D Crapo, Gerard Criner, Dawn Demeo, Stephanie A Christenson, David J Couper, Jeffrey L Curtis, Claire M Doerschuk, Christine M Freeman, Natalia A Gouskova, MeiLan K Han, Nicola A Hanania, Nadia N Hansel, Craig P Hersh, Eric A Hoffman, Robert J Kaner, Richard E Kanner, Eric C Kleerup, Sharon Lutz, Fernando J Martinez, Deborah A Meyers, Stephen P Peters, Elizabeth A Regan, Stephen I Rennard, Mary Beth Scholand, Edwin K Silverman, Prescott G Woodruff, Wanda K O'Neal, Russell P Bowler
Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental variations contribute to phenotypic diversity and disease progression. A meta-analysis from two large cohorts of current and former smokers with and without COPD [SPIROMICS (N = 750); COPDGene (N = 590)] was used to identify single nucleotide polymorphisms (SNPs) associated with measurement of 88 blood proteins (protein quantitative trait loci; pQTLs)...
August 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27508494/susceptibility-to-childhood-pneumonia-a-genome-wide-analysis
#18
Lystra P Hayden, Michael H Cho, Merry-Lynn N McDonald, James D Crapo, Terri H Beaty, Edwin K Silverman, Craig P Hersh
: Previous studies have indicated that in adult smokers, a history of childhood pneumonia is associated with reduced lung function and chronic obstructive pulmonary disease. There have been few previous investigations using genome-wide association studies to investigate genetic predisposition to pneumonia. This study aims to identify the genetic variants associated with the development of pneumonia during childhood and over the course of the lifetime. Study subjects included current and former smokers with and without chronic obstructive pulmonary disease participating in the COPDGene Study...
January 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/27496897/ccsp-g38a-polymorphism-environment-interactions-regulate-ccsp-levels-differentially-in-copd
#19
Lucie Knabe, Jessica Varilh, Anne Bergougnoux, Anne-Sophie Gamez, Jennifer Bonini, Alexandra Pommier, Aurélie Petit, Nicolas Molinari, Isabelle Vachier, Magali Taulan-Cadars, Arnaud Bourdin
Impaired airway homeostasis in chronic obstructive pulmonary disease (COPD) could be partly related to club cell secretory protein (CCSP) deficiency. We hypothesize that CCSP G38A polymorphism is involved and aim to examine the influence of the CCSP G38A polymorphism on CCSP transcription levels and its regulatory mechanisms. CCSP genotype and CCSP levels in serum and sputum were assessed in 66 subjects with stable COPD included in a 1-yr observational study. Forty-nine of them had an exacerbation. In an in vitro study, the impact on the CCSP promoter of 38G wild-type or 38A variant was assessed...
October 1, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27492524/novel-variants-of-serpin1a-gene-interplay-between-alpha1-antitrypsin-deficiency-and-chronic-obstructive-pulmonary-disease
#20
REVIEW
Arif Bashir, Naveed Nazir Shah, Younis Mohammad Hazari, Mudasir Habib, Samirul Bashir, Nazia Hilal, Mariam Banday, Syed Asrafuzzaman, Khalid Majid Fazili
Alpha1-antitrypsin (AAT) is one of the major circulating anti-protease whose levels in circulation are raised during excessive amount of proteases, especially neutrophil elastase (NE) released during the course of inflammation. Proteolytic attack of NE on peripheral organs, more exclusively on lung parenchyma has severe consequence that may precipitate pulmonary emphysema. Normally, human body has its own molecular and physiological mechanisms to synthesize and regulate the production of anti-protease like AAT to mitigate the extent of inflammatory damage...
August 2016: Respiratory Medicine
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