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COPD polymorphism

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...
February 21, 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, Yaliang 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. This 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...
January 16, 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-)
Sarra Bchir, Hela Ben Nasr, Abdelhamid Garrouch, Amel Ben Anes, Ammar Abbassi, Zouhair Tabka, Karim Chahed
OBJECTIVE: The goal of this study was to examine the role of MMP-3 (-1171 5A/6A; Lys45Glu (A/G)), MMP-7 (-181) A/G and MMP-12 (-82 A/G; Asn357Ser (A/G)) variants in the development and severity of chronic obstructive pulmonary disease (COPD) in Tunisians. METHODS: Plethysmography was performed in all participants to measure FEV1, FVC and FEV1/FVC parameters. Genotyping of MMP-3, MMP-7 and MMP-12 polymorphisms was carried out in 138 patients with COPD and 216 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
November 22, 2017: Journal of Gene Medicine
Eric Bradford, Sean Jacobson, Jason Varasteh, Alejandro P Comellas, Prescott Woodruff, Wanda O'Neal, Dawn L DeMeo, Xingnan Li, Victor Kim, Michael Cho, Peter J Castaldi, Craig Hersh, Edwin K Silverman, James D Crapo, Katerina Kechris, Russell P Bowler
BACKGROUND: Blood biomarkers are increasingly used to stratify high risk chronic obstructive pulmonary disease (COPD) patients; however, there are fewer studies that have investigated multiple biomarkers and replicated in multiple large well-characterized cohorts of susceptible current and former smokers. METHODS: We used two MSD multiplex panels to measure 9 cytokines and chemokines in 2123 subjects from COPDGene and 1117 subjects from SPIROMICS. These biomarkers included: interleukin (IL)-2, IL-6, IL-8, IL-10, tumor necrosis factor (TNF)-α, interferon (IFN)-γ, eotaxin/CCL-11, eotaxin-3/CCL-26, and thymus and activation-regulated chemokine (TARC)/CCL-17...
October 24, 2017: Respiratory Research
Qian He, Hongxing Li, Yuwen Rui, Lulu Liu, Binchan He, Yi Shi, Xin Su
Background: Pentraxin 3 (PTX3) plays an important role in resistance to Aspergillus infections. Previous studies have suggested that PTX3 polymorphisms influence the risk of invasive aspergillosis among transplantation recipients. This study was to investigate the association between PTX3 gene polymorphisms and pulmonary aspergillosis in chronic obstructive pulmonary disease (COPD) population. Methods: We included 173 consecutive inpatients with COPD. 36 cases were finally diagnosed with pulmonary aspergillosis...
August 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Onur Baykara, Nuriye Banu Tömekçe Taşkıran, Şadan Soyyiğit, Nur Buyru
Introduction: Chronic obstructive pulmonary disease (COPD) is a common respiratory condition characterized by persistent airflow limitation and is associated with an enhanced chronic inflammatory response in the airways and the lung to noxious particles or gases. Interleukin-1 beta (IL-1β) is a major pro-inflammatory cytokine expressed by many cells such as macrophages, neutrophils and monocytes and functions in cellular activities such as proliferation, differentiation and apoptosis...
June 2017: Tüberküloz Ve Toraks
Masafumi Nojiri, Shiro Mizuno, Kazuaki Nishiki, Ryo Kato, Ken Nakagawa, Taku Oikawa, Masaharu Iguchi, Kazuhiro Osanai, Takeshi Ishizaki, Hirohisa Toga
BACKGROUND: Genetic variation in the β2-adrenergic receptor (ADRB2) gene has been thought to have an important role in the differential response to β2-agonist therapy for asthma. However, previous studies have shown little evidence for an association between these ADRB2 variants and the bronchial dilator response (BDR) in chronic obstructive pulmonary disease (COPD) patients. This discrepancy could be explained by differences in the distribution and heterogeneity of pulmonary emphysema in COPD patients, since emphysema distribution and heterogeneity are thought to have a role in pulmonary function in COPD patients...
September 27, 2017: Pulmonary Pharmacology & Therapeutics
Dalia Fakih, Zeina Akiki, Kirsten Junker, Myrna Medlej-Hashim, Mirna Waked, Pascale Salameh, Uffe Holmskov, Hasnaa Bouharoun-Tayoun, Soulaima Chamat, Grith L Sorensen, Rania Jounblat
BACKGROUND AND OBJECTIVE: A structural single nucleotide polymorphism rs721917 in the surfactant protein D (SP-D) gene, known as Met11Thr, was reported to influence the circulating levels and degree of multimerization of SP-D and was associated with both COPD and atopy in asthma. Moreover, disease-related processes are known to degrade multimerized SP-D, however, the degree of the protein degradation in these diseases is not clarified. We aimed to determine the distribution of multimerized (high molecular weight (HMW)) and non-multimerized (low molecular weight (LMW)) species of serum SP-D and their correlation with genetic polymorphisms and presence of disease in Lebanese COPD and asthmatic patients...
September 28, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
Tinghui Cao, Naijin Xu, Zhen Wang, Hui Liu
OBJECTIVES: To study the effects of GSTM1, GSTT1 gene polymorphisms, and organism antioxidant capacity and related indicators such as antioxidant capacity per unit of albumin (AC/ALB) on chronic obstructive pulmonary disease (COPD). METHODS: Using polymerase chain reaction technology, GSTM1 and GSTT1 gene polymorphisms were detected in 33 COPD patients and 33 healthy people. The total antioxidant capacity (TAC) found in serum was determined using the I2/KI potentiometric, KMnO4 microtitration, and H2O2 potentiometric methods...
2017: Oxidative Medicine and Cellular Longevity
Guihua Xu, Xiaoyu Gao, Sainan Zhang, Yan Wang, Mingjing Ding, Wenyan Liu, Jie Shen, Dejun Sun
The contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. This study aimed to investigate the role of single nucleotide polymorphisms (SNPs) in HHIP on COPD susceptibility in the Chinese Mongolian and Han populations from Inner Mongolia autonomous region. In this case-control study, five SNPs in HHIP gene were detected in 700 COPD patients (350 Chinese Han and 350 Chinese Mongolian) and 700 healthy controls (350 Chinese Han and 350 Chinese Mongolian). The genotype, the association with COPD, and the differences between Chinese Han and Mongolian populations were evaluated using the chi-squared (χ(2)) test, genetic models, and logistic analysis...
September 19, 2017: Gene
Zili Zhang, Jian Wang, Zeguang Zheng, Xindong Chen, Xiansheng Zeng, Yi Zhang, Defu Li, Jiaze Shu, Kai Yang, Ning Lai, Lian Dong, Wenju Lu
BACKGROUND: Convincing evidences have demonstrated the associations between HHIP and FAM13a polymorphisms and COPD in non-Asian populations. Here genetic variants in HHIP and FAM13a were investigated in Southern Han Chinese COPD. METHODS: A case-control study was conducted, including 989 cases and 999 controls. The associations between SNPs genotypes and COPD were performed by a logistic regression model; for SNPs and COPD-related phenotypes such as lung function, COPD severity, pack-year of smoking, and smoking status, a linear regression model was employed...
2017: BioMed Research International
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