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Genetic polymorphisms and susceptibility to lung disease
Pauline L Lee1, Carol West, Karen Crain
1The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, 92037, USA. plee@scripps.edu
Journal of Negative Results in Biomedicine
|April 13, 2006
Summary
Genetic variations in innate immunity genes do not appear to increase susceptibility to lung diseases like tuberculosis and sarcoidosis. This study found no link between these gene polymorphisms and increased risk for these conditions.
Area of Science:
- Immunogenetics
- Pulmonary Medicine
- Infectious Disease Epidemiology
Background:
- Susceptibility to Bacillus anthracis infection has a genetic basis in mice and potentially humans.
- Individuals with underlying lung diseases, such as asthma, sarcoidosis, and tuberculosis, may be more susceptible to anthrax infection.
- Investigating genetic factors in innate immunity could identify risks for infectious and non-infectious lung diseases, including inhalation anthrax.
Purpose of the Study:
- To determine if polymorphisms in key innate immunity genes are associated with susceptibility to infectious (tuberculosis) and non-infectious (sarcoidosis) lung diseases.
- To assess if these polymorphisms represent a potential risk factor for inhalation anthrax.
Main Methods:
- Examined 45 non-synonymous polymorphisms in ten genes related to innate immunity.
- Genes studied include NCF1, NCF2, NCF4, CYBA, CYBB, DUOX1, DUOX2, TLR2, TLR9, and alpha 1-antitrypsin (AAT).
- Analyzed a cohort of 95 individuals with lung disease and 95 healthy control individuals.
Main Results:
- No significant association was found between the examined polymorphisms in innate immunity genes and increased susceptibility to lung disease.
- The study did not identify these specific genetic variations as risk factors for tuberculosis or sarcoidosis in the cohort.
Conclusions:
- The investigated polymorphisms in innate immunity genes are not associated with increased susceptibility to lung diseases like tuberculosis and sarcoidosis.
- These findings suggest that these specific genetic variations may not be a significant risk factor for inhalation anthrax susceptibility in the studied population.