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COPD polymorphism

Sharon M Lutz, Brittni Frederiksen, Ferdouse Begum, Merry-Lynn McDonald, Michael H Cho, Brian Hobbs, Margaret M Parker, Dawn L DeMeo, Craig P Hersh, Marissa Eringher, Kendra Young, Lai Jiang, Marilyn G Foreman, Greg L Kinney, Barry J Make, David A Lomas, Per Bakke, Amund Gulsvik, James D Crapo, Edwin K Silverman, Terri H Beaty, John E Hokanson
Introduction: Cigarette smoking is a major environmental risk factor for many diseases, including chronic obstructive pulmonary disease (COPD). There are shared genetic influences on cigarette smoking and COPD. Genetic risk factors for cigarette smoking in cohorts enriched for COPD are largely unknown. Methods: We performed genome-wide association analyses for average cigarettes per day (CPD) across the COPDGene Non-Hispanic White (NHW) (n=6,659) and African American (AA) (n=3,260), GenKOLS (n=1,671), and ECLIPSE (n=1,942) cohorts...
May 15, 2018: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
Liang Xie, Wei Chen, Ran Dong, Bin He, Kaishun Zhao, Li Zhang, Min Zhou, Ping He
The present study assessed the association between the variants of macrophage scavenger receptor (MSR)1 and chronic obstructive pulmonary disease (COPD), with or without lung cancer in China. COPD and lung cancer were previously regarded as two separate diseases. However, it has since been reported that there are close associations between COPD and lung cancer. Lung cancer may be an outcome of COPD. COPD may also coexist with lung cancer, and patients with COPD with lung cancer tend to have increased mortality...
May 2018: Oncology Letters
Yaoyao Dai, Zhihai Zhang, Lina Xu, Yunfei Shang, Rongrong Lu, Jie Chen
We investigated the association between genetic polymorphisms of IL17A, TLR4 and P2RX7 genes and chronic obstructive pulmonary disease (COPD) in a Han population. We performed a case-control study with 152 COPD subjects from the Third People's Hospital of Nantong in 2015. Healthy controls were selected from a group of people attending the physical examination and were frequency-matched to the cases by sex and age. Genotyping was performed using TaqMan allelic discrimination technology. A logistic regression model was used to calculated odds ratios (OR) and 95% confidence intervals (CI)...
May 2018: Mutation Research
Z Ding, K Wang, J Li, Q Tan, W Tan, G Guo
Chronic obstructive pulmonary disease (COPD) is a severe lung disease characterized by long-term breathing problems. A series of studies have indicated that the glutathione S-transferase (GST) genes M1 and T1 are associated with COPD susceptibility; however, the result still remains inconclusive. This meta-analysis was performed to estimate the effect of GSTM1 and GSTT1 polymorphisms in COPD risk. Eligible case-control studies published between January 2000 and December 2017 was searched and retrieved. A total of 37 articles were screened out, including 4674 COPD patients and 5006 controls...
April 28, 2018: Clinical Genetics
Wei Wang, Yuhui Yu, Shuangshuang Wu, Lingli Sang, Xiaohui Wang, Anni Qiu, Xiaoqiao Yu, Jingzhi Li, Lu Zhang, Min Yi, Huiting Zheng, Yuexia Gao, Jing Xiao, Yihua Lu, Liying Jiang, Yulong Lian, Xun Zhuang, Tian Tian, Minjie Chu
BACKGROUND: Two recent genome-wide association studies (GWASs) reported that the FAM13A gene at the 4q22 locus associated with pulmonary fibrosis (defined by rs2609255) overlapping with COPD (defined by rs6837671). We hypothesized that single-nucleotide polymorphisms (SNPs) related to lung disease (especially pulmonary fibrosis) identified in this region are also associated with the risk of silicosis. METHODS: To test this hypothesis, we genotyped these two SNPs (rs2609255 and rs6837671) in a case-control study including 177 silicosis cases and 204 controls with silica dust exposure years similar to the levels for cases in a Chinese population...
April 2, 2018: Gene
Jin-Xiu Li, Wei-Ping Fu, Jing Zhang, Xiao-Hua Zhang, Chang Sun, Lu-Ming Dai, Li Zhong, Li Yu, Ya-Ping Zhang
Background: Previous studies have suggested that β2 -adrenergic receptor ( ADRB2 ) is associated with COPD. However, the role of genetic polymorphisms in ADRB2 on COPD has not been evaluated yet. Methods: In this study, SNaPshot genotyping, luciferase assay, chromatin immunoprecipitation and real-time polymerase chain reaction were adopted to investigate the association between ADRB2 genetic polymorphisms and COPD, comprehensively. Results: One single nucleotide polymorphism (rs12654778), located upstream of ADRB2 , showed a significant association with COPD by the logistic regression analysis after adjusting for age, sex and smoking history ( p =0...
2018: International Journal of Chronic Obstructive Pulmonary Disease
Adrian Egli, Jyotshna Mandal, Desiree M Schumann, Michael Roth, Brad Thomas, D Lorne Tyrrell, Francesco Blasi, Kostantinos Kostikas, Wim Boersma, Branislava Milenkovic, Alicia Lacoma, Katharina Rentsch, Gernot G U Rohde, Renaud Louis, Joachim G Aerts, Tobias Welte, Antoni Torres, Michael Tamm, Daiana Stolz
BACKGROUND: Interferon lambdas (IFNLs) have important anti-viral/bacterial and immunomodulatory functions in the respiratory tract. How do IFNLs impact COPD and its exacerbations? METHODS: Five hundred twenty eight patients were recruited in a prospective observational multicentre cohort (PROMISE) study. The genetic polymorphisms (rs8099917 and rs12979860) within the IFNL3/4 gene region and circulating levels of IFNL3 in COPD patients were determined and associated with disease activity and outcome during a median follow-up of 24 months...
March 21, 2018: BMC Pulmonary Medicine
Xu Wang, Xiaochang Zhang, Lina Jin, Zhiguang Yang, Wei Li, Jiuwei Cui
OBJECTIVE: Early detection and diagnosis of lung cancer remain challenging but would improve patient prognosis. The goal of this study is to develop a model to estimate the risk of lung cancer for a given individual. METHODS: We conducted a case-control study to develop a predictive model to identify individuals at high risk for lung cancer. Clinical data from 500 lung cancer patients and 500 population-based age- and gender-matched controls were used to develop and evaluate the model...
February 28, 2018: Cancer Biomarkers: Section A of Disease Markers
Daniel B Hawcutt, Ben Francis, Daniel F Carr, Andrea L Jorgensen, Peng Yin, Naomi Wallin, Natalie O'Hara, Eunice J Zhang, Katarzyna M Bloch, Amitava Ganguli, Ben Thompson, Laurence McEvoy, Matthew Peak, Andrew A Crawford, Brian R Walker, Joanne C Blair, Jonathan Couriel, Rosalind L Smyth, Munir Pirmohamed
BACKGROUND: A serious adverse effect of corticosteroid therapy is adrenal suppression. Our aim was to identify genetic variants affecting susceptibility to corticosteroid-induced adrenal suppression. METHODS: We enrolled children with asthma who used inhaled corticosteroids as part of their treatment from 25 sites across the UK (discovery cohort), as part of the Pharmacogenetics of Adrenal Suppression with Inhaled Steroids (PASS) study. We included two validation cohorts, one comprising children with asthma (PASS study) and the other consisting of adults with chronic obstructive pulmonary disorder (COPD) who were recruited from two UK centres for the Pharmacogenomics of Adrenal Suppression in COPD (PASIC) study...
March 15, 2018: Lancet Respiratory Medicine
Xue-Mei Zhong, Li Li, Huai-Zhen Wang, Xiao-Guang Zou, Ping Zhang, Mireban Rexiati, Maimaitiaili Tuerxun, Jie Ren, Mukeremu Yasen, Juan Zhang, Ai-Fang Zheng, Paierda Aini
Background: Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1-antitrypsin (Alpha-1-AT) expression affects the occurrence and progression of chronic obstructive pulmonary disease (COPD). We aimed to explore the associations of rs9944155AG, rs1051052AG, and rs1243166AG polymorphisms in the Alpha-1-AT gene with the risk of COPD in Uygur population in the Kashgar region. Methods: From March 2013 to December 2015, a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region...
March 20, 2018: Chinese Medical Journal
Juan M Reséndiz-Hernández, Ramcés Falfán-Valencia
Asthma and chronic obstructive pulmonary disease (COPD) are widely documented diseases with an inflammatory component. Asthma is a heterogeneous disorder of the airways that involves chronic inflammation, decline of the airway function and tissue remodeling. Chronic obstructive pulmonary disease is a preventable and treatable disease, which is characterized by persistent limited airflow, and is usually progressive with an increased inflammatory response in the airways. The inflammatory response is evoked by the stimulus of noxious particles and gases...
January 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Juan Manuel Reséndiz-Hernández, Enrique Ambrocio-Ortiz, Gloria Pérez-Rubio, Luis Alberto López-Flores, Edgar Abarca-Rojano, Gandhi Fernando Pavón-Romero, Fernando Flores-Trujillo, Rafael de Jesús Hernández-Zenteno, Ángel Camarena, Martha Pérez-Rodríguez, Ana María Salazar, Alejandra Ramírez-Venegas, Ramcés Falfán-Valencia
Background: Smoking and smoke from biomass burning (BB) are the main environmental risk factors for COPD. Clinical differences have been described between COPD related to smoking and related to wood smoke, but no studies have shown genetic differences between patients exposed to these two risk factors. Methods: To investigate a possible association of tumor necrosis factor ( TNF ) promoter polymorphisms, we conducted a case-control study. A total of 1,322 subjects were included in four groups: patients with a diagnosis of COPD secondary to smoking (COPD-S, n=384), patients with COPD secondary to biomass burning (COPD-BB, n=168), smokers without COPD (SWOC, n=674), and biomass burning-exposed subjects (BBES n=96)...
2018: International Journal of Chronic Obstructive Pulmonary Disease
Thijs W Hoffman, Coline H M van Moorsel, Raphael Borie, Bruno Crestani
PURPOSE OF REVIEW: Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes...
May 2018: Current Opinion in Pulmonary Medicine
Ning Liao, Hua Zhao, Min-Li Chen, Zheng-Fu Xie
The aim of this study was to investigate if 2 common single nucleotide polymorphisms (SNPs) in the interleukin-13 (IL-13) gene, rs1800925 and rs20541 are associated with chronic obstructive pulmonary disease (COPD) risk.Case-control association studies were retrieved systematically from PubMed, Scopus, ISI Web of Science, China National Knowledge Infrastructure, and Wanfang databases using standardized subject terms.Eleven studies including 3077 participants (1896 cases and 1181 controls) were analyzed. Evidence for a positive association between the T allele of the IL-13 SNP rs1800925 and COPD risk was found in the overall population (odds ratio [OR] = 1...
November 2017: Medicine (Baltimore)
Benjamin M Smith, Hussein Traboulsi, John H M Austin, Ani Manichaikul, Eric A Hoffman, Eugene R Bleecker, Wellington V Cardoso, Christopher Cooper, David J Couper, Stephen M Dashnaw, Jia Guo, MeiLan K Han, Nadia N Hansel, Emlyn W Hughes, David R Jacobs, Richard E Kanner, Joel D Kaufman, Eric Kleerup, Ching-Long Lin, Kiang Liu, Christian M Lo Cascio, Fernando J Martinez, Jennifer N Nguyen, Martin R Prince, Stephen Rennard, Stephen S Rich, Leora Simon, Yanping Sun, Karol E Watson, Prescott G Woodruff, Carolyn J Baglole, R Graham Barr
Susceptibility to chronic obstructive pulmonary disease (COPD) beyond cigarette smoking is incompletely understood, although several genetic variants associated with COPD are known to regulate airway branch development. We demonstrate that in vivo central airway branch variants are present in 26.5% of the general population, are unchanged over 10 y, and exhibit strong familial aggregation. The most common airway branch variant is associated with COPD in two cohorts ( n = 5,054), with greater central airway bifurcation density, and with emphysema throughout the lung...
January 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
Licheng Wang, Yanliang Tang, Ye Chen
Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow. Recently, variants in the hypoxia inducible factor 1α ( HIF1A ) gene were found to be associated with COPD risk. The present study aimed to identify whether rs10873142 polymorphism (an intronic polymorphism) in HIF1A gene was related to COPD in a Chinese population. We genotyped HIF1A gene rs10873142 polymorphism in a case-control study with 235 COPD cases and 548 controls in a Chinese Han population...
April 27, 2018: Bioscience Reports
Jarrett D Morrow, Michael H Cho, John Platig, Xiaobo Zhou, Dawn L DeMeo, Weiliang Qiu, Bartholome Celli, Nathaniel Marchetti, Gerard J Criner, Raphael Bueno, George R Washko, Kimberly Glass, John Quackenbush, Edwin K Silverman, Craig P Hersh
BACKGROUND: Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. Integrative analysis of multiple omics datasets has the potential to identify novel genes involved in disease pathogenesis by leveraging these variants in a functional, regulatory context...
January 15, 2018: Human Genomics
Huanhuan Zhu, Shuanglin Zhang, Qiuying Sha
Many complex diseases like diabetes, hypertension, metabolic syndrome, et cetera, are measured by multiple correlated phenotypes. However, most genome-wide association studies (GWAS) focus on one phenotype of interest or study multiple phenotypes separately for identifying genetic variants associated with complex diseases. Analyzing one phenotype or the related phenotypes separately may lose power due to ignoring the information obtained by combining phenotypes, such as the correlation between phenotypes. In order to increase statistical power to detect genetic variants associated with complex diseases, we develop a novel method to test a weighted combination of multiple phenotypes (WCmulP)...
2018: PloS One
Yan Wang, Qipeng Zhou, Lian Dong, Mingmei Xiong, Hua Jiang, Meihua Guo, Li Zhao, Liang Yuan, Ziying Li, Hanwei Liu, Jian Wang, Nanshan Zhong, Wenju Lu
The polymorphisms of cytokine genes has been reported to modulate the individual's susceptibility to environmental stimuli in COPD development. C-X-C motif chemokine 10 (CXCL10) mediates recruitment inflammatory cells such as monocytes. Therefore, it may play a key role in COPD. Here, a case-control study was conducted to evaluate the association between CXCL10 tag-SNPs and COPD risk. Four tag-SNPs including rs4256246, rs4508917, rs56061981, and rs56316945 were identified based on the linkage disequilibrium (LD) analysis in 30 healthy controls...
December 28, 2017: Molecular Genetics and Genomics: MGG
Yan Li, Michael H Cho, Xiaobo Zhou
COPD (chronic obstructive pulmonary disease) is characterized by irreversible lung airflow obstruction. Cigarette smoke is the major risk factor for COPD development. However, only a minority number of smokers develop COPD, and there are substantial variations in lung function among smokers, suggesting that genetic determinants in COPD susceptibility. During the past decade, genome-wide association studies and exome sequencing have been instrumental to identify the genetic determinants of complex traits, including COPD...
December 15, 2017: Clinical Science (1979-)
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