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Related Concept Videos

COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Chronic Obstructive Pulmonary Disease01:24

Chronic Obstructive Pulmonary Disease

COPD is defined as a heterogeneous lung condition marked by persistent respiratory symptoms such as dyspnea, cough, and sputum production, caused by abnormalities in the airways that cause airflow obstruction.
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies01:27

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Related Experiment Video

Updated: Jul 4, 2026

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification
10:21

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification

Published on: September 20, 2024

Multi-trait polygenic scores for COPD and COPD exacerbations implicate druggable proteins.

Chengyue Zhang1, Iain R Konigsberg2, Yixuan He3

  • 1Channing Division of Network Medicine, Mass General Brigham, Boston, Massachusetts, USA.

JCI Insight
|February 19, 2026
PubMed
Summary

A new multi-trait polygenic score (PRS) enhances prediction of chronic obstructive pulmonary disease (COPD) and exacerbations. This approach also identifies potential drug targets for precision medicine in COPD management.

Keywords:
COPDGenetic risk factorsGeneticsProteomicsPulmonology

Related Experiment Videos

Last Updated: Jul 4, 2026

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification
10:21

Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification

Published on: September 20, 2024

Area of Science:

  • Genetics and Bioinformatics
  • Pulmonology
  • Pharmacogenomics

Background:

  • Chronic obstructive pulmonary disease (COPD) poses a significant health burden, necessitating improved prediction and management strategies.
  • Current predictive models for COPD and its exacerbations have limitations in accuracy and scope.
  • Identifying novel therapeutic targets is crucial for advancing precision medicine in COPD.

Purpose of the Study:

  • To develop and validate a multi-trait polygenic score (PRSmulti) for predicting COPD and exacerbation risk.
  • To assess the performance of PRSmulti across diverse populations.
  • To identify PRS-associated proteins for potential therapeutic targeting in COPD.

Main Methods:

  • Utilized the PRSmix+ framework to construct a composite PRS (PRSmulti) from 7 selected traits in the COPDGene cohort.
  • Validated PRSmulti associations with COPD status and exacerbation frequency in multiple large, diverse cohorts (COPDGene, ECLIPSE, MassGeneral Brigham Biobank, All of Us).
  • Employed protein prediction models with GWAS data and validated findings with proteomic data from COPDGene and UK Biobank to identify PRS-related proteins.

Main Results:

  • The PRSmulti demonstrated significant associations with COPD status (OR 1.58) and exacerbation frequency (beta 0.21) in meta-analysis.
  • PRSmulti showed superior predictive performance compared to traditional single-trait PRS across all tested cohorts.
  • Identified 73 PRS-associated proteins, with 25 linked to existing or investigational drugs, including notable targets like RAGE/sRAGE, IL1RL1, and SCARF2.

Conclusions:

  • Multi-trait PRS offers a robust method for improving the prediction of COPD and exacerbation risk.
  • The integration of PRS with proteomic data successfully identified druggable protein targets.
  • This approach represents a promising strategy for developing personalized medicine interventions for COPD.