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Published on: May 30, 2020
ORMDL3 gene is associated with asthma in three ethnically diverse populations.
Joshua Galanter1, Shweta Choudhry, Celeste Eng
1Lung Biology Center, Department of Medicine, Institute for Human Genetics, University of California, San Francisco, California 94143-2911, USA. joshua.galanter@ucsf.edu
This study confirms that the ORMDL3 gene is a risk factor for asthma across diverse ethnic groups. Further research is needed to understand how ORMDL3 genetic variants contribute to asthma development.
Area of Science:
- Genetics
- Pulmonology
- Epidemiology
Background:
- Independent replication is crucial for validating genetic associations in complex diseases.
- Whole-genome association studies (WGAS) have identified ORMDL3 as a potential asthma gene in Caucasian populations.
Purpose of the Study:
- To validate the role of ORMDL3 genetic variants in asthma susceptibility.
- To investigate ORMDL3 associations in Mexican, Puerto Rican, and African American populations.
Main Methods:
- Family-based association analyses were conducted for seven single-nucleotide polymorphisms (SNPs) in and around the ORMDL3 gene.
- Evaluated SNPs in 701 Mexican and Puerto Rican parent-child trios and 264 African American asthma cases with 176 controls.
Main Results:
- Significant associations between two ORMDL3 SNPs (rs4378650 and rs12603332) and asthma were observed in Mexican and African American populations.
- A trend towards association was noted in Puerto Ricans, particularly in individuals with elevated IgE levels.
- No association was found with lung function or bronchodilator response.
Conclusions:
- The ORMDL3 locus is confirmed as a risk factor for asthma in ethnically diverse populations.
- Inconsistent SNP-level findings necessitate further investigation into the precise mechanisms of ORMDL3's role in asthma pathogenesis.
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