Related Experiment Video
Updated: May 26, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genome-wide association study identifies PERLD1 as asthma candidate gene
Ramani Anantharaman1, Anand Kumar Andiappan, Pallavi Parate Nilkanth
1Department of Biological Sciences, National University of Singapore, Singapore.
BMC Medical Genetics
|December 23, 2011
Summary
Genome-wide association studies identified a novel asthma gene, PERLD1, in a Singaporean Chinese population. This finding highlights the 17q12-21 chromosomal region
Area of Science:
- Genetics
- Immunology
- Epidemiology
Background:
- Genome-wide association studies (GWAS) have identified replicated genetic associations for asthma.
- Identifying genetic variants influencing asthma predisposition is crucial for understanding disease etiology.
Purpose of the Study:
- To identify genetic variants associated with asthma susceptibility in an ethnic Chinese population in Singapore using a GWAS approach.
Main Methods:
- A two-stage GWAS was conducted involving case and control samples.
- Pooled and individual genotyping were performed, with replication in an independent cohort.
- Analysis included association testing and fine-mapping of significant loci.
Main Results:
- A significant association was found between SNP rs2941504 in the PERLD1 gene and asthma.
- This association was validated in independent asthma GWAS datasets.
- PERLD1's role in glycosylphosphatidylinositol anchor modification suggests a mechanism for T-cell involvement in allergic asthma.
Conclusions:
- PERLD1 is identified as a novel candidate gene for asthma.
- The findings reinforce the importance of the 17q12-21 chromosomal region in asthma development.
Related Concept Videos
01:28Asthma 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...
01:11Genome-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...
GWAS does not require the identification of the target gene involved in...
01:20Asthma: 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 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.
01:26Asthma-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:
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:
01:29Asthma-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...
01:13Asthma 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,...