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Related Concept Videos

Asthma I: Introduction01:28

Asthma I: Introduction

Asthma is a chronic inflammatory disorder of the airways characterized by variable airflow obstruction and heightened bronchial responsiveness to a wide range of triggers. The underlying inflammation leads to airway swelling, mucus hypersecretion, and smooth muscle constriction, all of which narrow the airway lumen and impede airflow. Clinically, asthma presents with recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing, symptoms that typically vary in intensity and...
Asthma-II: Pathophysiology and Classification01:26

Asthma-II: Pathophysiology and Classification

Asthma is a prevalent chronic respiratory condition marked by inflammation and hyperresponsiveness of the airways. Its pathophysiology involves complex interactions among inflammatory pathways, immune responses, and neural mechanisms.
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
Asthma: Pathogenesis and Management01:20

Asthma: Pathogenesis and Management

Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
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...
Asthma-I: Introduction01:29

Asthma-I: Introduction

Asthma is a chronic respiratory ailment that requires careful management due to its varying symptoms and influencing factors. It is characterized by airway inflammation, bronchial hyperresponsiveness, and reversible airflow obstruction, leading to symptoms like wheezing, shortness of breath, chest tightness, and coughing. The symptom frequency and intensity may vary considerably over time. It is also linked to immune system responses to allergens and irritants, highlighting the complex...
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...

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Updated: Jun 21, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Associations between decay-accelerating factor polymorphisms and allergic respiratory diseases.

T Kawai1, S Takeshita, Y Imoto

  • 1Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology
|August 18, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variations in the Decay-accelerating factor (DAF) gene are linked to increased susceptibility to allergic respiratory diseases like asthma and allergic rhinitis in the Japanese population. Lower DAF levels may correlate with heightened allergic responses.

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Allergic diseases, including asthma and allergic rhinitis, are significant health issues.
  • These conditions involve IgE-mediated type I allergy and complex inheritance patterns.
  • The complement system plays a role in allergies, with Decay-accelerating factor (DAF) regulating it.

Purpose of the Study:

  • To investigate the association between DAF gene polymorphisms and allergic respiratory diseases in the Japanese population.
  • To identify specific DAF gene variations that may confer susceptibility to these conditions.

Main Methods:

  • A tag single-nucleotide polymorphism (SNP) association analysis was performed on individuals with seasonal allergic rhinitis (SAR) and asthma, along with healthy controls.
  • Mutation screenings of the DAF gene were conducted.
  • Luciferase reporter assays were used to assess the functional impact of identified DAF promoter region haplotypes.

Main Results:

  • A significant association was found between the DAF gene polymorphism rs10746463 and both SAR and mite-sensitive adult asthma.
  • Haplotypes rs2564978 and rs3841376 in the DAF promoter region were in complete linkage disequilibrium with rs10746463.
  • The risk haplotype (rs2564978 C/rs3841376 deletion) demonstrated significantly lower transcriptional activity compared to the insertion haplotype.

Conclusions:

  • DAF gene polymorphisms are implicated in susceptibility to allergic respiratory diseases.
  • Decreased DAF levels may be associated with enhanced specific IgE responses in allergic individuals.
  • These findings highlight DAF as a potential genetic factor in the development of allergic respiratory diseases in the Japanese population.