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COPD polymorphism

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
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
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
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
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
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)...
December 2016: COPD
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