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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Resequencing candidate genes implicates rare variants in asthma susceptibility
Dara G Torgerson1, Daniel Capurso, Rasika A Mathias
1Department of Human Genetics, University of Chicago, IL 60637, USA.
Rare genetic variants, particularly noncoding ones, significantly contribute to asthma susceptibility across different ethnicities. This study highlights the importance of exploring rare variants in complex diseases like asthma.
Area of Science:
- Genetics
- Pulmonology
- Genomic Medicine
Background:
- Common genetic variations influence asthma risk, but the role of rare variants is understudied.
- Identifying rare variants contributing to asthma is crucial for understanding disease mechanisms.
Purpose of the Study:
- To investigate the contribution of rare genetic variants to asthma susceptibility.
- To explore the association of rare variants in selected asthma-associated genes with disease risk.
Main Methods:
- Sequenced coding exons and flanking regions of nine candidate asthma genes in 450 cases and 515 controls.
- Analyzed rare variants for association with asthma, particularly in African Americans and European Americans.
Main Results:
- Rare variants in AGT, DPP10, IKBKAP, and IL12RB1 were associated with asthma in African Americans.
- Rare IL12RB1 variants also linked to asthma in European Americans, with noncoding variants showing strong association.
- Nonsynonymous variants in DPP10 and IL12RB1 showed population-specific associations.
Conclusions:
- Rare genetic variants, especially noncoding ones, play a significant role in asthma susceptibility.
- Prioritizing genes by selection signatures may aid in identifying rare variants for complex diseases.
- Further research is needed to validate these findings and explore gene-environment interactions.
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