A key challenge in the genomic era is to understand how alleles and allelic combinations influence variability in biological pathways and the onset of common, complex disease. Variation in intricate biological pathways plays an important role in human health. The development of methodology to systematically evaluate the genetic variability within an entire biological pathway and reveal how alleles and allelic combinations affect the development of traits and disease would be an important advance. To this end, we propose to comprehensively characterize the genetic variation of 44 genes central to the sex steroid pathway and evaluate if alleles from these genes, either alone or in combination, can predict the variability in serum levels of estrogen and testosterone in a large population based cohort. The relevance of variation in sex steroid pathway genes to disease will first be examined using the sex steroid influenced disease Systemic Lupus Erythematosus.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
1F32AR050927-01A1
Application #
6791563
Study Section
Special Emphasis Panel (ZRG1-F08 (20))
Program Officer
Serrate-Sztein, Susana
Project Start
2004-05-01
Project End
2007-04-30
Budget Start
2004-05-01
Budget End
2005-04-30
Support Year
1
Fiscal Year
2004
Total Cost
$42,976
Indirect Cost
Name
Massachusetts General Hospital
Department
Type
DUNS #
073130411
City
Boston
State
MA
Country
United States
Zip Code
02199
Chung, Sharon A; Brown, Elizabeth E; Williams, Adrienne H et al. (2014) Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. J Am Soc Nephrol 25:2859-70
Graham, Robert R; Cotsapas, Chris; Davies, Leela et al. (2008) Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet :
Graham, Robert R; Cotsapas, Chris; Davies, Leela et al. (2008) Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 40:1059-61