The use of single nucleotide polymorphisms (SNPs) is likely to become a major tool for the discovery of genetic linkage and disease association in the coming decade. New technologies currently entering the laboratory will allow investigators to perform high throughput studies that, until now, were impossible. The Genotyping Core proposes to locate SNPs in genes with demonstrated or presumed relevance to human cardiopulmonary disease. We will select 20 candidate genes for SNP analysis per year in airway diseases (cystic fibrosis, chronic obstructive pulmonary disease, and asthma) and selected from comparisons of our expression profiling analysis in human and animal models of human disease. We anticipate three to five SNPs per gene, which we can then evaluate in well-defined patient populations. We hypothesize SNP may explain phenotypic differences in carefully defined disease severity.

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Project--Cooperative Agreements (U01)
Project #
1U01HL066615-01
Application #
6291598
Study Section
Special Emphasis Panel (ZHL1-CSR-L (S2))
Project Start
2000-09-30
Project End
2004-07-31
Budget Start
2000-09-30
Budget End
2001-07-31
Support Year
1
Fiscal Year
2000
Total Cost
$110,950
Indirect Cost
Name
Johns Hopkins University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Barnes, Kathleen C; Grant, Audrey V; Hansel, Nadia N et al. (2007) African Americans with asthma: genetic insights. Proc Am Thorac Soc 4:58-68
Gao, Li; Tsai, Yuhjung J; Grigoryev, Dmitry N et al. (2007) Host defense genes in asthma and sepsis and the role of the environment. Curr Opin Allergy Clin Immunol 7:459-67
Gao, Li; Grant, Audrey V; Rafaels, Nicholas et al. (2007) Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma. J Allergy Clin Immunol 119:1111-8
Chi, Peter B; Duggal, Priya; Kao, W H Linda et al. (2006) Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population. Genet Epidemiol 30:609-19
Barnes, Kathleen C; Grant, Audrey; Gao, Peisong et al. (2006) Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes. J Allergy Clin Immunol 118:70-7