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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.
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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Lung Capacity01:47

Lung Capacity

The air in the lungs is measured in volumes and capacities. Lung volume measures reflect the amount of air taken in, released, or left over after a lung function, like a single inhalation. Lung capacity measures are sums of two or more lung volume measures.
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features01:24

Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features

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...
Loss of Tumor Suppressor Gene Functions01:12

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Related Experiment Video

Updated: May 14, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Variants in the 15q24/25 locus associate with lung function decline in active smokers.

Firdaus A A Mohamed Hoesein1, Els Wauters, Wim Janssens

  • 1Division of Heart and Lungs, Department of Respiratory Medicine, University Medical Center, Utrecht, The Netherlands. fmohamedhoesein@gmail.com

Plos One
|January 26, 2013
PubMed
Summary

Genetic variants in nicotinic acetylcholine receptor subunit genes (nAChRs) accelerate lung function decline in smokers. These variants also increase the risk of severe chronic obstructive pulmonary disease (COPD) and lung transplantation.

Related Experiment Videos

Last Updated: May 14, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Area of Science:

  • Genetics
  • Pulmonology
  • Pharmacogenomics

Background:

  • Genetic variations in nicotinic acetylcholine receptor subunit genes (nAChRs) are linked to lung function and chronic obstructive pulmonary disease (COPD).
  • The impact of these variants on the rate of lung function decline remains largely unknown.

Purpose of the Study:

  • To investigate the association between nAChR susceptibility variants and lung function decline.
  • To examine the relationship between these variants and COPD severity.

Main Methods:

  • Genotyping of rs1051730 and rs8034191 variants in two independent cohorts of heavy smokers (COPACETIC and LEUVEN).
  • Assessment of lung function decline over a median follow-up of 3 years.
  • Analysis of COPD severity, including GOLD stages and need for lung transplantation.

Main Results:

  • Current smokers homozygous for the rs1051730 A-allele or rs8034191 G-allele showed significantly greater FEV1/FVC decline.
  • Carriers of these risk alleles had a two-fold increased risk of severe COPD (GOLD IV).
  • Risk alleles conferred a five- and four-fold increased risk for lung transplantation due to end-stage COPD.

Conclusions:

  • nAChR variants are associated with accelerated lung function decline in European smokers.
  • These genetic variants are linked to clinically significant COPD severity and adverse outcomes.