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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-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...
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:
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Asthma III: Clinical Manifestations01:13

Asthma III: Clinical Manifestations

Asthma presents with a characteristic pattern of episodic respiratory symptoms that reflect underlying airway inflammation, bronchoconstriction, and mucus hypersecretion. Although severity varies among individuals, certain clinical manifestations are considered hallmarks of the disorder and often guide diagnosis and assessment.Respiratory SymptomsA persistent cough is one of the most common early features of asthma. It is frequently dry and tends to worsen at night or in the early morning,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: Jul 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Association study between the CX3CR1 gene and asthma.

K Tremblay1, M Lemire, V Provost

  • 1Department of Medicine, University of Montreal Community Genomic Medicine Centre, Chicoutimi University Hospital, Saguenay, Québec, Canada.

Genes and Immunity
|November 4, 2006
PubMed
Summary

Genetic variations in the CX3CR1 gene are associated with asthma susceptibility. Common alleles of specific CX3CR1 polymorphisms show a link to asthma, with minor alleles potentially offering protection.

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Area of Science:

  • Immunogenetics
  • Respiratory Medicine
  • Molecular Biology

Background:

  • CX3CR1 (fractalkine receptor) plays a role in cell adhesion and migration during inflammation.
  • CX3CR1 expression is observed in the bronchial tissues of individuals with asthma.

Purpose of the Study:

  • To investigate the hypothesis that genetic variations in the CX3CR1 gene influence asthma susceptibility.
  • To identify specific CX3CR1 polymorphisms associated with asthma risk.

Main Methods:

  • Association study and haplotypic analysis of CX3CR1 polymorphisms in a familial asthma sample.
  • Utilized FBAT software for genetic analysis of single nucleotide polymorphisms (SNPs) and haplotypes.
  • Validated key associations in an independent case-control sample.

Main Results:

  • Five CX3CR1 SNPs (rs938203, rs2669849, rs1050592, T280M, V249I) showed significant associations with asthma (P<0.004) under a dominant model.
  • A specific haplotype (rs1050592, T280M, V249I) was overtransmitted in asthmatic subjects (P=0.005).
  • Associations for V249I and rs2669849 were validated, with odds ratios indicating increased asthma risk for certain genotypes.

Conclusions:

  • Genetic variations in CX3CR1 are linked to asthma susceptibility.
  • Common alleles of certain CX3CR1 polymorphisms are associated with increased asthma risk.
  • Minor alleles of CX3CR1 may confer a protective effect against asthma, warranting further functional investigation.