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Related Concept Videos

Chronic Obstructive Pulmonary Disease I: Introduction01:23

Chronic Obstructive Pulmonary Disease I: Introduction

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Chronic obstructive pulmonary disease is a common, preventable, and treatable respiratory disorder characterized by persistent symptoms and progressive airflow limitation. This limitation results from a combination of small-airway disease (obstructive bronchiolitis) and parenchymal destruction (emphysema), both driven by chronic inflammation from exposure to harmful particles or gases.The disease includes two main pathological entities: emphysema, marked by destruction of alveolar walls and...
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Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

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Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
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Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features01:24

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Chronic bronchitis is a key phenotype of chronic obstructive pulmonary disease (COPD), characterized by airway-centered inflammation and mucus overproduction. It develops from long-term exposure to harmful particles or gases, most commonly cigarette smoke, which triggers a persistent inflammatory response.Cellular and Structural ChangesInflammation initially affects the large bronchi and later the smaller airways, with infiltration by immune cells, including neutrophils, macrophages, and...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Chronic Obstructive Pulmonary Disease-I: Introduction01:20

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Chronic Obstructive Pulmonary Disease (COPD) is a long-lasting respiratory condition requiring continuous attention and care. It is a progressive lung disease that leads to breathing challenges due to airflow obstruction. It manifests as persistent respiratory symptoms and restricted airflow resulting from abnormalities in the airways and alveoli, usually due to long-term exposure to harmful particles or gases. COPD mainly consists of two primary conditions: emphysema and chronic bronchitis.
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Gene polymorphisms and chronic obstructive pulmonary disease.

Xiaodan Wu1, Bowei Yuan, Elena López

  • 1Department of Respiratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China; Shanghai Respiratory Research Institute, Shanghai, China.

Journal of Cellular and Molecular Medicine
|November 22, 2013
PubMed
Summary

Genetic factors may influence chronic obstructive pulmonary disease (COPD). This review examines gene polymorphisms in COPD development, but more rigorous studies are needed to confirm these genetic links and guide personalized treatments.

Keywords:
COPDbiomarkerschronic lung diseasesgenepolymorphismtherapy

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Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Public Health

Background:

  • Chronic obstructive pulmonary disease (COPD) is a significant global health issue.
  • A genetic component is suspected to play a role in COPD development and related traits.
  • Existing research on gene polymorphisms and COPD shows inconsistent results.

Purpose of the Study:

  • To review and characterize evidence linking gene polymorphisms to COPD aetiology.
  • To explore the relationship between specific gene polymorphisms and COPD susceptibility, severity, lung function, phenotypes, and drug responses.
  • To identify the need for more robust research methodologies.

Main Methods:

  • Systematic review of existing association studies.
  • Analysis of evidence for gene polymorphisms in COPD.
  • Evaluation of study limitations and consistency of findings.

Main Results:

  • Evidence suggests a potential contribution of gene polymorphisms to COPD.
  • Limited and inconsistent results were found across many association studies.
  • Most studies were observational associations, not confirmatory evidence.

Conclusions:

  • Further large-scale, strictly controlled studies are required to validate the role of gene polymorphisms in COPD.
  • Prospective confirmatory studies are essential to establish true genetic associations.
  • Understanding genetic links can facilitate individualized treatment strategies for COPD patients.