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Related Concept Videos

Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
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...
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

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Chronic Obstructive Pulmonary Disease I: Introduction01:23

Chronic Obstructive Pulmonary Disease I: Introduction

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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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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SERPINE2 polymorphisms and chronic obstructive pulmonary disease.

Seung Ick Cha1, Hyo-Gyoung Kang, Jin Eun Choi

  • 1Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.

Journal of Korean Medical Science
|December 2, 2009
PubMed
Summary
This summary is machine-generated.

The SERPINE2 gene may influence susceptibility to chronic obstructive pulmonary disease (COPD). Specific single nucleotide polymorphisms (SNPs) in SERPINE2 were linked to a reduced risk of developing COPD, particularly in younger individuals.

Keywords:
PolymorphismPulmonary Disease, Chronic ObstructiveSerpine2

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Area of Science:

  • Genetics
  • Pulmonology
  • Molecular Biology

Background:

  • Genome-wide linkage analyses implicate the 2q33.3-2q37.2 chromosomal region in chronic obstructive pulmonary disease (COPD) susceptibility.
  • The SERPINE2 gene, located within this region, is a candidate gene for low-penetrance COPD susceptibility.

Purpose of the Study:

  • To investigate the association between SERPINE2 single nucleotide polymorphisms (SNPs) and the risk of developing COPD.
  • To determine if SERPINE2 acts as a susceptibility gene for COPD.

Main Methods:

  • A case-control study was conducted with 311 COPD patients and 386 controls.
  • Four SERPINE2 SNPs (rs16865421, rs7583463, rs729631, rs6734100) were genotyped.
  • Statistical analyses included dominant models for SNP association and haplotype analysis.

Main Results:

  • The SNP rs16865421 was significantly associated with a decreased risk of COPD (OR=0.66, P=0.03) under a dominant model.
  • The GACC haplotype, including the polymorphic allele at rs16865421, showed a reduced risk of COPD compared to the AACC haplotype (OR=0.58, P=0.01).
  • This protective effect of the GACC haplotype was more pronounced in younger individuals (OR=0.30, P=0.002).

Conclusions:

  • The SERPINE2 gene likely contributes to COPD susceptibility.
  • Specific SERPINE2 variants are associated with a reduced risk of COPD.
  • The findings highlight SERPINE2 as a potential genetic factor in COPD pathogenesis, especially in younger populations.