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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic predisposition to asthma and atopy.
Despina G Contopoulos-Ioannidis1, Ioanna N Kouri, John P A Ioannidis
1Department of Pediatrics, University of Ioannina School of Medicine, Ioannina, Greece.
Respiration; International Review of Thoracic Diseases
|December 28, 2006
Summary
This review explores genetic factors in asthma and atopy, finding modest evidence for gene associations like ADAM33 and TNFA. Large-scale studies and standardized phenotypes are crucial for future discoveries in these complex conditions.
Area of Science:
- Genetics
- Immunology
- Epidemiology
Background:
- Asthma and atopy are complex conditions with suspected heritable components.
- Numerous gene-disease association studies have been published.
- Gene-environment interactions are increasingly recognized as important.
Purpose of the Study:
- To review the evidence for multigenetic inheritance in asthma and atopy.
- To assess the current state of genetic research in these conditions.
- To identify future directions for genetic research.
Main Methods:
- Literature review of gene-disease association studies.
- Analysis of gene-environment interaction studies.
- Meta-analyses of genetic association and linkage studies.
Main Results:
- Over 372 gene-disease association studies for asthma and 124 for atopy were identified.
- Modest evidence supports genetic association of asthma with ADAM33 and TNFA polymorphisms.
- Linkage studies suggest loci on multiple chromosomes associated with total serum IgE levels, but strong linkage peaks for asthma susceptibility are unlikely.
Conclusions:
- Replication and large-scale studies are needed due to limited sample sizes in many current studies.
- Standardization of phenotypes is essential for reliable genetic research.
- New technologies combined with robust study design, collaboration, and gene-environment interaction analysis are key for future discoveries.
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