Related Experiment Video

Updated: May 8, 2026

Cultivate Primary Nasal Epithelial Cells from Children and Reprogram into Induced Pluripotent Stem Cells
12:08

Cultivate Primary Nasal Epithelial Cells from Children and Reprogram into Induced Pluripotent Stem Cells

Published on: March 10, 2016

The PCDH1 gene and asthma in early childhood

Li J Mortensen1, Eskil Kreiner-Møller, Hakon Hakonarson

  • 1Danish Pediatric Asthma Center, Health Sciences, University of Copenhagen, Copenhagen University Hospital, Gentofte, Denmark.

The European Respiratory Journal
|August 31, 2013
PubMed

Insights

Genetic variants in the protocadherin-1 (PCDH1) gene are linked to increased risk of transient early asthma and atopic dermatitis in children. This research highlights PCDH1

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Protocadherin-1 (PCDH1) gene variants have been previously associated with asthma, bronchial hyperresponsiveness, and atopic dermatitis.
  • The role of PCDH1 in cell-cell adhesion suggests a potential mechanism for its involvement in allergic diseases.

Purpose of the Study:

  • To investigate the association between common PCDH1 gene variants and longitudinally assessed asthma phenotypes and atopic dermatitis in early childhood.
  • To identify specific single-nucleotide polymorphisms (SNPs) within PCDH1 that correlate with the development of these conditions.

Main Methods:

  • Analysis of eight single-nucleotide polymorphisms (SNPs) in the PCDH1 gene in 411 children from the Copenhagen Prospective Studies on Asthma in Childhood birth cohort.
  • Prospective diagnosis of asthma and atopic dermatitis up to age 7 years, with asthma categorized by symptom patterns (transient early, persistent, late-onset).
  • Measurement of bronchial responsiveness at age 6 years and application of additive genetic models.

Main Results:

  • A significant association was found between the rs10063472-T allele of PCDH1 and the transient early asthma phenotype (OR 1.91-2.00, p=0.0053-0.0058).
  • Hetero- and homozygotes for the rs10063472-T allele showed an earlier onset of asthma symptoms.
  • A significant association was observed between atopic dermatitis and the rs11167761-A allele (OR 1.85, p=0.0026).
  • No associations were found for other asthma symptom patterns or bronchial responsiveness.

Conclusions:

  • Common variations in the PCDH1 gene are associated with an increased risk of developing transient early-onset asthma.
  • PCDH1 gene variants also play a role in the development of atopic dermatitis in early childhood.
  • These findings underscore the importance of PCDH1 in the pathogenesis of allergic diseases during early development.

More Related Videos

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

Advanced Imaging of Lung Homing Human Lymphocytes in an Experimental In Vivo Model of Allergic Inflammation Based on Light-sheet Microscopy10:39

Advanced Imaging of Lung Homing Human Lymphocytes in an Experimental In Vivo Model of Allergic Inflammation Based on Light-sheet Microscopy

Published on: April 16, 2019

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...
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...
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.
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-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...