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COPD polymorphism

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https://www.readbyqxmd.com/read/28327457/beta2-adrenergic-receptor-gene-haplotypes-and-bronchodilator-response-in-egyptian-patients-with-chronic-obstructive-pulmonary-disease
#1
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 16, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28321311/ace-and-response-to-pulmonary-rehabilitation-in-copd-two-observational-studies
#2
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
#3
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
https://www.readbyqxmd.com/read/28302109/interaction-of-cd14-haplotypes-and-soluble-cd14-on-pulmonary-function-in-agricultural-workers
#4
Tricia D LeVan, Lynette M Smith, Art J Heires, Ted R Mikuls, Jane L Meza, Lisa A Weissenburger-Moser, Debra J Romberger
BACKGROUND: Agricultural environments are contaminated with organic dusts containing bacterial components. Chronic inhalation of organic dusts is implicated in respiratory diseases. CD14 is a critical receptor for gram-negative lipopolysaccharide; however, its association with respiratory disease among agricultural workers is unknown. The objective of this study was to determine if serum soluble CD14 (sCD14) levels are associated with lung function among agricultural workers and if this association is modified by genetic variants in CD14...
March 16, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28170284/genetic-association-and-risk-scores-in-a-copd-meta-analysis-of-16-707-subjects
#5
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/28161533/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-patients-with-chronic-obstructive-pulmonary-disease-in-london-uk
#6
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/28138235/interactions-between-single-nucleotide-polymorphism-of-serpina1-gene-and-smoking-in-association-with-copd-a-case-control-study
#7
Xiaowei Deng, Cun-Hua Yuan, De Chang
BACKGROUND: SERPINA1 gene has been implicated in the pathogenesis of chronic obstructive pulmonary disease (COPD), while smoking is a known risk factor for COPD. Little is known on the effect of SERPINA1 gene and its interaction with smoking in the Chinese population. In this study, the effect of SERPINA1 gene polymorphisms on COPD risk and its interaction with smoking status has been investigated. METHOD: A total of 120 COPD patients and 481 healthy controls were recruited at The Armed Police Corps Hospital...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28113658/a-bayesian-nonparametric-model-for-disease-subtyping-application-to-emphysema-phenotypes
#8
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...
September 13, 2016: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/28093224/beta-2-adrenoreceptor-polymorphism-at-position-16-determines-the-clinical-severity-of-chronic-obstructive-pulmonary-disease
#9
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
#10
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
#11
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
#12
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
#13
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
#14
REVIEW
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
#15
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
#16
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
#17
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
#18
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...
December 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
#19
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
#20
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
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