MISSION

tion (GWA) studies of quantitative pulmonary function measurements in the Framingham Heart Study
revealed significant association with a region of chromosome 4 that includes the hedgehog-interacting protein
(HHIP) gene. The SNP association was replicated in an independent sample from the Family Heart
Study, with association observed for both FEV1/FVC and COPD risk. The identified region of chromosome
4 is the subject of further investigation to evaluate association between the SNP and the expression
of nearby genes.
FAMRI Supported Publications
Walter RE, Wilk JB, Larson MG, Vasan RS, Keaney JF, Jr., Lipinska I, O’Connor GT, Benjamin EJ.
Systemic inflammation and COPD: the Framingham Heart Study. Chest 2008;133:19-25.
Wilk JB, Walter RE, Laramie JM, Gottlieb DJ, O’Connor GT. Framingham Heart Study genome-wide
association: results for pulmonary function measures. BMC Med Genet 2007;8 Suppl 1:S8.
PERIPHERAL BLOOD MONONUCLEAR CELL PROFILING IN TOBACCO EXPOSURE:
SUSCEPTIBILITY MARKERS FOR COPD
Michael G. Edwards, PhD; University of Colorado; YCSA 2005
Dr. Edwards is interested in the observation that clinically evident COPD only develops in a subset of
tobacco smoke-exposed individuals. The use of global analysis of peripheral blood gene expression has
great novel discovery potential. There have been publications of this research concerning peripheral blood
mononuclear cell (PBMC) gene expression in pulmonary artery hypertension. To this end, the PI has used
Affymetrix U133 Plus 2.0 arrays to examine differences in global gene expression from PBMCs isolated
from current and former smokers with and without COPD. Analysis of the microarray data reveals more
than the expected numbers of transcripts that are significantly different between smokers and non-smokers,
males and females, and subsets of individuals with and without COPD. The PI has also identified thirteen
transcripts whose expression shows a significant correlation (Spearman, P