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Editorials

Blood and Cardiovascular Disease

The Promise and Limitations of Gene Expression Analysis

Kahraman Tanriverdi, PhD and Jane E. Freedman, MD

From the Department of Medicine, Boston University School of Medicine, Boston, Mass.

Correspondence to Jane E. Freedman, MD, Boston University School of Medicine, 700 Albany St, W507, Boston, MA 02118. E-mail freedmaj@bu.edu

Key Words: Editorials • blood cells • cardiovascular diseases • genes • genetics

An extract of the first 250 words of the full text is provided, because this article has no abstract.

Developments in the fields of genomics, transcriptomics, and proteomics have modified the definition of complex diseases in recent years. To have increasingly precise protein, genomic, and gene expression signatures would further define disease, advance treatment, and enhance the field of personalized medicine. In the area of cardiovascular disease, these specific areas have not followed parallel courses; a fact primarily driven by technology. Although proteomics holds the promise of large-scale identification of individual proteins from biological samples, the current technology is hampered by significant limitations, including the cost of truly high-throughput analysis and difficulty in the identification of low-abundant proteins.¹ At the other end of the spectrum, human genome-wide association studies have analyzed 500 000 single-nucleotide polymorphisms in the human genome in large numbers of subjects and genetically redefined many common diseases and risk factors.^2–4 Genome-wide association studies have also enabled investigation of the genetic contribution to specific heritable phenotypes and biomarkers.⁵

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Large gene expression profiling studies have not yet been completed in epidemiological cohorts focused on risk factors for atherothrombotic disease but have been reported in large oncological trials.^6–9 These trials have been shown to predict oncological prognosis and classify precancerous disease states.¹⁰ Expression patterns from peripheral blood cells demonstrate B-cell differentiation that predicts specific stages of lymphoma.¹¹ Although there are more limited data in vascular disease, gene expression from leukocytes in patients with sickle cell disease is consistent with increased oxidation and inflammation.¹² Aortic samples have been analyzed for gene expression from patients with abdominal aortic . . . [Full Text of this Article]