Genetic Association With Various Severities, Phenotypes and Endotypes of Asthma.

There is limited information on genetics associated with asthma in Chinese. An earlier meta-analysis found that ADAM33, FcεRIb, RANTES, TNF-a, ACE, b2-AR, IL-4R and IL-13 genes could be proposed as asthma susceptible genes in the Chinese population. However, given the limited number of studies, more data are required to validate these associations.

Future research must address key issues such as the broad clinical variability of asthma and the underrepresentation of populations of non-European heritage. Endotype-specific SNPs and unique biological insights may be obtained by conducting GWAS/EWAS on homogeneous populations of more therapy-resistant T2-low, adult-onset, obesity-associated asthma or asthma with particular co-morbidities.

The primary objective is to investigate the association between genetic polymorphisms and various severities of asthma.

Study Overview

• Status: Recruiting
• Conditions: Asthma
• Intervention / Treatment: Genetic: No intervention

Detailed Description

Currently, many studies on asthma genetics are limited by the dominance of populations of European descent. In addition, there are few genetic studies that focus on moderate-to-severe asthma.

There is limited information on genetics associated with asthma in Chinese. An earlier meta-analysis found that ADAM33, FcεRIb, RANTES, TNF-a, ACE, b2-AR, IL-4R and IL-13 genes could be proposed as asthma susceptible genes in the Chinese population. However, given the limited number of studies, more data are required to validate these associations.

Future research must address key issues such as the broad clinical variability of asthma and the underrepresentation of populations of non-European heritage. Endotype-specific SNPs and unique biological insights may be obtained by conducting GWAS/EWAS on homogeneous populations of more therapy-resistant T2-low, adult-onset, obesity-associated asthma or asthma with particular co-morbidities.

Objectives Primary objective To investigate the association between genetic polymorphisms and various severities of asthma (e.g. mild, moderate, severe).

Secondary objectives

1. Identify the most common genetic variants associated with asthma in Chinese patients.
2. Determine the frequency and distribution of these genetic variants in Chinese patients compared to healthy controls.
3. Explore the potential interactions between genetic and environmental factors in the development of asthma in Chinese patients.
4. Explore the frequency and distribution of these genetic variants in patients with various phenotypes and endotypes (examples: including TH2 high asthma, Asthma COPD overlap, poor lung function, onset of illness)

This is a prospective observational study in outpatients with asthma seen and treated by physicians in the Prince of Wales Hospital. A total of 1000 asthma patients will be enrolled, along with 1000 controls matched for age, sex, and ethnicity. All participants will provide blood samples for genetic analysis, and clinical data will be collected from medical records and patient interviews. Genetic variants will be genotyped using high-throughput sequencing methods.

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

• Study Contact: Name: David SC Hui, MD; Phone Number: 35053133; Email: dschui@cuhk.edu.hk

Study Locations

• Hong Kong
  • Hong Kong, Hong Kong
    • Recruiting
    • The Chinese University of Hong Kong
    • Contact: Fanny Ko, MD; Email: fannyko@cuhk.edu.hk
    • Contact: David Hui, MD; Email: dschui@cuhk.edu.hk
  • New Territories
    • Hong Kong, New Territories, Hong Kong
      • Recruiting
      • The Chinese University of Hong Kong
      • Contact: David S Hui, MD; Phone Number: 35053133; Email: dschui@cuhk.edu.hk
      • Contact: fanny WS Ko, MD; Phone Number: 35053133; Email: fannyko@cuhk.edu.hk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

This is a prospective observational study in outpatients with asthma seen and treated by physicians in the Prince of Wales Hospital. A total of 1000 asthma patients will be enrolled, along with 1000 controls matched for age, sex, and ethnicity.

Description

Inclusion Criteria:

• • All patients with confirmed diagnosis of asthma (defined as those with a consistent history and prior documented evidence of variable airflow obstruction, with evidence of an increase in FEV1 greater than 12% or 400 mL following bronchodilator or bronchial hyperresponsiveness on bronchial provocation testing, when stable) 12

  • Able to sign written informed consent form to participate in the study.

Exclusion Criteria:

• • Patients currently with acute exacerbation of asthma by GINA guideline. (For subjects with asthma exacerbation, they can join the study after 6 weeks post recovery from the exacerbation.)

  • Patients with respiratory diseases that can show similar symptoms to chronic airway diseases such as bronchiectasis, tuberculosis(TB)-destroyed lung parenchyma, endobronchial TB, and lung cancer, or those who have history of these diseases based on physician's judgment.
  • Patients currently diagnosed with pneumonia and acute bronchitis.

For control subject: the inclusion will be having no clinical diagnosis of asthma.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Asthma; Subjects with asthma	Genetic: No intervention; No intervention
Control; Subjects with no asthma	Genetic: No intervention; No intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
association between genetic polymorphisms and various severities of asthma	association between genetic polymorphisms and various severities of asthma	3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identify the most common genetic variants associated with asthma in Chinese patients.	Identify the most common genetic variants associated with asthma in Chinese patients.	3 years
Explore the frequency and distribution of these genetic variants in patients with various phenotypes and endotypes	Explore the frequency and distribution of these genetic variants in patients with various phenotypes and endotypes (examples: including TH2 high asthma, Asthma COPD overlap, poor lung function, onset of illness)	3 years

Collaborators and Investigators

• Sponsor: Chinese University of Hong Kong
• Investigators: Study Director: David SC Hui, Chinese University of Hong Kong

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2024
• Primary Completion (Estimated): January 4, 2028
• Study Completion (Estimated): January 4, 2029

Study Registration Dates

• First Submitted: December 23, 2023
• First Submitted That Met QC Criteria: December 23, 2023
• First Posted (Actual): January 9, 2024

Study Record Updates

• Last Update Posted (Actual): March 18, 2026
• Last Update Submitted That Met QC Criteria: March 17, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immune System Diseases; Respiratory Tract Diseases; Lung Diseases; Bronchial Diseases; Lung Diseases, Obstructive; Respiratory Hypersensitivity; Hypersensitivity, Immediate; Hypersensitivity; Asthma
• Other Study ID Numbers: Asthma Genetics_V2_08Aug2023

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: We can share the data (no patient identity reviewed) if there are projects (with reasonable quality and request) requesting that according to the rules of our institution.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No