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Candidate gene and mutational analysis in asthma and atopy
J Wilkinson1, N S Thomas, N Morton
1Department of Medicine and Human Genetics, University of Southampton, UK.
International Archives of Allergy and Immunology
|May 4, 1999
Summary
This study investigated genetic markers associated with asthma. While no linkage was found for the I181L/V183L polymorphism, chromosome 12 markers showed linkage to asthma, suggesting this region warrants further investigation for novel candidate genes.
Area of Science:
- Genetics
- Pulmonology
- Human Genetics
Background:
- Investigated genetic markers near the FcepsilonRI-beta gene on chromosome 11q and 17 markers on chromosome 12.
- Determined the frequency of I181L/V183L and E237G polymorphisms in the study population.
Purpose of the Study:
- To identify genetic linkages associated with asthma and atopy.
- To evaluate the role of specific polymorphisms in asthma susceptibility.
Main Methods:
- Recruited 131 randomly ascertained families and 109 families with an asthmatic proband.
- Collected data via questionnaires, bronchial challenge, skinprick tests, and measured IgE levels.
- Derived quantitative phenotype and asthma scores using principal-component analysis and linkage analysis.
Main Results:
- No I181L/V183L polymorphism instances were found.
- The E237G polymorphism occurred at 3.5% frequency with weak evidence of linkage to asthma.
- Significant linkage was observed between chromosome 12 markers and asthma, particularly D12S366 and wheeze.
Conclusions:
- Linkage findings on chromosome 12 support continued research in this genomic region.
- Further fine-mapping efforts are planned to identify potential novel candidate genes for asthma.