Biomedical Engineering Reference
In-Depth Information
SNP Chip for Study of Cardiovascular Diseases
Illumina is developing a custom SNP biochip for the study of vascular diseases
through a collaboration with the Institute of Translational Medicine and Therapeutics
(ITMAT) at the University of Pennsylvania, the Broad Institute at MIT, and the
National Heart, Lung, and Blood Institute's (NHLBI) Candidate-gene Association
Resource (CARe) Consortium. The IBC chip, named for ITMAT, Broad, and
CARe, will be used to analyze more than 55,000 SNPs in genes that have been
selected for cardiovascular-related phenotypes. The collaborators will use the
Illumina iSelect Custom Genotyping BeadChip to study the genetic diversity of
pathways for around 2,100 genes that are linked to vascular conditions including
hypertension, myocardial infarction, heart failure, stroke, insulin resistance, meta-
bolic disorders, dyslipidemia, and inflammation. The iSelect BeadChip enables
scientists to train their research on specific SNPS-related to pathways or disease.
The study plans to analyze more than 120,000 samples from population studies and
clinical trials for possible links to vascular disease. The microarray will enable
researchers to quickly genotype thousands of patients across thousands of genes to
identify genetic risk factors underlying vascular diseases and other complex
genetic traits.
Pharmacogenomics of Cardiovascular Disorders
Application of pharmacogenomics for development of personalized treatment of
cardiovascular disorders is illustrated by a few examples, such as myocardial
infarction, heart failure, and hypertension, which are common conditions. The
application of pharmacogenetics to cardiovascular disease management is also
discussed. Factors that may be taken into account when selecting drug therapy for
a patient with cardiovascular disease include age, race, concomitant diseases, medi-
cations, and renal and hepatic function. The renin-angiotensin system (RAS) plays
a major role in the development and progression of cardiovascular diseases by pro-
moting vasoconstriction, sodium reabsorption, cardiac remodeling, norepinephrine
release, and other potentially detrimental effects. Angiotensin-converting-enzyme
(ACE) inhibitors and angiotensin II type 1-receptor (AT1R) blockers are recom-
mended for managing cardiovascular diseases, such as hypertension, myocardial
ischemia, and heart failure. However, there is substantial variability in individual
responses to these agents.
Modifying the Genetic Risk for Myocardial Infarction
Variants in the 5-lipoxygenase-activating protein (FLAP) gene are associated with
risk of myocardial infarction (MI). A randomized, prospective, placebo-controlled,
crossover trial of DG-031 (DeCode Genetics Inc), an inhibitor of FLAP, was
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