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COPD polymorphism

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
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
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
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
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
Lystra P Hayden, Michael H Cho, Merry-Lynn N McDonald, James D Crapo, Terri H Beaty, Edwin K Silverman, Craig P Hersh
RATIONALE: Prior studies have indicated that in adult smokers a history of childhood pneumonia is associated with reduced lung function and chronic obstructive pulmonary disease (COPD). There have been few prior investigations using genome-wide association studies (GWAS) to investigate genetic predisposition for pneumonia. This study aims to identify genetic variants associated with development of pneumonia during childhood and over the course of the lifetime. METHODS: Study subjects included current and former smokers with and without COPD participating in the COPDGene Study...
August 10, 2016: American Journal of Respiratory Cell and Molecular Biology
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
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
Zhuxiang Zhao, Yumin Zhou, Yujun Li, Changbin Jiang, Dongxing Zhao, Ziwen Zhao, Zhaohui Liu, Pixin Ran
BACKGROUND: Single-nucleotide polymorphisms (SNPs) in the cholinergic nicotinic receptor subunit genes on chromosome 15q25.1, including CHRNA3, CHRNB4 and CHRNA5, are well-established biomarkers of chronic obstructive pulmonary disease (COPD) and lung cancer. Thus, there is great demand for a rapid, easy and inexpensive method to detect these variations for purpose of risk prediction in large populations. AIM OF THE STUDY: The aim of this study was to establish an accurate and efficient method for genotyping CHRN SNPs and testing their association with age at onset of COPD in Chinese population as well as the clinical stage in COPD patients...
June 2016: Experimental Lung Research
Sarra Bchir, Hela Ben Nasr, Amel Ben Anes, Mohamed Benzarti, Abdelhamid Garrouch, Zouhair Tabka, Karim Chahed
OBJECTIVE: The aim of this study was to determine the role of MMP-1 (-1607 1G/2G; -519 A/G) and MMP-2 (-1306 C/T; -735 C/T) polymorphisms in the development and severity of chronic obstructive pulmonary disease (COPD) in Tunisian patients. We also evaluated the impact of these genetic variants on serum levels of the corresponding proteins. METHODS: The study included 138 patients with COPD and 216 healthy controls. Pulmonary function was evaluated using body plethysmography, and COPD severity was determined based on forced expiratory volume in 1 s (FEV1%)...
July 13, 2016: Molecular Diagnosis & Therapy
Lu Zhang, Hao Gu, Yihang Gu, Xiaoning Zeng
BACKGROUND AND OBJECTIVE: The association between TNF-α -308 G/A polymorphism and COPD remains controversial due to insufficiently strict study designs and small group sizes among different studies. In the present study, a meta-analysis update which followed a stricter procedure was performed to obtain a clearer understanding of this association. METHODS: A comprehensive database search was conducted to identify the case-control studies published up to July 2015 which reported an association between the TNF-α -308 G/A polymorphism and COPD risk...
2016: International Journal of Chronic Obstructive Pulmonary Disease
Michael J McGeachie, Katherine P Yates, Xiaobo Zhou, Feng Guo, Alice L Sternberg, Mark L Van Natta, Robert A Wise, Stanley J Szefler, Sunita Sharma, Alvin T Kho, Michael H Cho, Damien C Croteau-Chonka, Peter J Castaldi, Gaurav Jain, Amartya Sanyal, Ye Zhan, Bryan R Lajoie, Job Dekker, John Stamatoyannopoulos, Ronina A Covar, Robert S Zeiger, N Franklin Adkinson, Paul V Williams, H William Kelly, Hartmut Grasemann, Judith M Vonk, Gerard H Koppelman, Dirkje S Postma, Benjamin A Raby, Isaac Houston, Quan Lu, Anne L Fuhlbrigge, Kelan G Tantisira, Edwin K Silverman, James Tonascia, Robert C Strunk, Scott T Weiss
RATIONALE: Patterns of longitudinal lung function growth and decline in childhood asthma have been shown to be important in determining risk for future respiratory ailments including chronic airway obstruction and chronic obstructive pulmonary disease (COPD). OBJECTIVES: To determine the genetic underpinnings of lung function patterns in childhood asthmatics. METHODS: We performed a genome-wide association study of 581 non-Hispanic white asthmatics that were previously classified by patterns of lung function growth and decline, (Normal Growth, Normal Growth with Early Decline, Reduced Growth, and Reduced Growth with Early Decline)...
July 1, 2016: American Journal of Respiratory and Critical Care Medicine
SeungBaek Lee, Jun She, Bo Deng, JungJin Kim, Mariza de Andrade, Jie Na, Zhifu Sun, Jason A Wampfler, Julie M Cunningham, Yanhong Wu, Andrew H Limper, Marie-Christine Aubry, Chris Wendt, Peter Biterman, Ping Yang, Zhenkun Lou
An important precursor to lung cancer development is chronic obstructive pulmonary disease (COPD), independent of exposure to tobacco smoke. Both diseases are associated with increased host susceptibility, inflammation, and genomic instability. However, validation of the candidate genes and functional confirmation to test shared genetic contribution and cellular mechanisms to the development of lung cancer in patients with COPD remains underexplored. Here, we show that loss of PARK2 (encoding Parkin) increases the expression of proinflammation factors as well as nuclear NF-κB localization, suggesting a role of PARK2 loss in inflammation...
June 13, 2016: Oncotarget
Z P Yan, X Tong, S T Liu, Y Ma, S F Peng, X Yang, H Fan
Meta-analyses have revealed many positive associations between gene variants and susceptibility to chronic obstructive pulmonary disease (COPD). However, some of those positive results may be false positives. Therefore, we investigated the genetic polymorphisms associated with COPD risk and determined their diagnostic value. We extracted the odds ratio (OR) and 95% confidence interval for each polymorphism from published meta-analyses concerning gene variants and COPD susceptibility in October 2014, subsequently we calculated false-positive report probabilities (FPRPs) for statistically significant associations (P value < 0...
2016: Genetics and Molecular Research: GMR
Shuyuan Chu, Xiaoning Zhong, Jianquan Zhang, Xiaoying Lai, Jiajun Xie, Yu Li
Forkhead box P3 (FOXP3) is the essential transcription factor for the function of regulatory T-cell (Treg). However, the gene mutation of FOXP3 in patients with chronic obstructive pulmonary disease (COPD) at different stages has not been reported. We aim to investigate four single nucleotide polymorphisms (SNPs) and the mRNA expression of FOXP3 in smokers with normal lung function and smokers with COPD at different stages. FOXP3 mRNA expression and SNPs in FOXP3 were assessed in nonsmokers with normal lung function (N), smokers with normal lung function (S), smokers with COPD in the Global Initiative for Chronic Obstructive Lung Disease (GOLD) 1 or 2 grade (COPD 1-2), and smokers with COPD in GOLD 3 or 4 grade (COPD 3-4)...
June 16, 2016: COPD
Li An, Yingxiang Lin, Ting Yang, Lin Hua
BACKGROUND: Currently, the majority of genetic association studies on chronic obstructive pulmonary disease (COPD) risk focused on identifying the individual effects of single nucleotide polymorphisms (SNPs) as well as their interaction effects on the disease. However, conventional genetic studies often use binary disease status as the primary phenotype, but for COPD, many quantitative traits have the potential correlation with the disease status and closely reflect pathological changes...
2016: Human Genomics
Radosław Mlak, Iwona Homa-Mlak, Tomasz Powrózek, Barbara Mackiewicz, Marek Michnar, Paweł Krawczyk, Marcin Dziedzic, Renata Rubinsztajn, Ryszarda Chazan, Janusz Milanowski, Teresa Małecka-Massalska
INTRODUCTION: Chronic obstructive pulmonary disease (COPD) affects more than 10% of the world's population over 40 years of age. The main exogenous risk factor is cigarette smoking; however, only 20% of smokers develop COPD, indicating that some other factors, e.g. genetic, may play an important role in the disease pathogenesis. Recent research indicates that ACE (angiotensin-converting enzyme) may be a susceptibility gene for asthma or COPD. The aim of our study was to determine the influence of I/D (insertion/deletion) polymorphism of the ACE gene (AluYa5, rs4646994) on the risk and course of COPD...
April 1, 2016: Archives of Medical Science: AMS
L An, H Xia, P Zhou, L Hua
Chronic obstructive pulmonary disease (COPD) is an important respiratory disease with high mortality. Although smoking is the major environmental risk factor for the development of COPD, only 10% of heavy smokers develop symptomatic disease, suggesting association between genetic susceptibilities and environmental influences. In recent years, as one of the most widely studied genes including tests for associations between a genetic variant and COPD, epoxide hydrolase 1 (EPHX1) was found to be involved in the metabolism of tobacco smoke, an important risk factor of COPD...
2016: Genetics and Molecular Research: GMR
S Jiang, Z H Yang, Y Y Chen, Z He, Y Zhou, Y Gao, Q Zhang, M Q Tan
Correlations between genetic polymorphisms of three matrix metalloproteinase (MMP) genes and susceptibility to chronic obstructive pulmonary disease (COPD) were investigated. Relevant case-control studies were selected using rigorous inclusion and exclusion criteria. The comprehensive Meta-analysis 2.0 software was used to conduct the statistical analysis. An odds ratio with 95% confidence intervals was applied to assess the correlation between genetic polymorphisms of MMPs and susceptibility to COPD. Twelve high-quality studies were selected for inclusion in this meta-analysis...
2016: Genetics and Molecular Research: GMR
Xu Wang, Kewei Ma, Lumei Chi, Jiuwei Cui, Lina Jin, Ji-Fan Hu, Wei Li
Genetic variants from a considerable number of susceptibility loci have been identified in association with cancer risk, but their interaction with epidemiologic factors in lung cancer remains to be defined. We sought to establish a forecasting model for identifying individuals with high-risk of lung cancer by combing gene single-nucleotide polymorphisms with epidemiologic factors. Genotyping and clinical data from 500 lung cancer cases and 500 controls were used for developing the logistic regression model...
2016: Journal of Cancer
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