The technological development of large scale genome wide nucleic acid sequence
analysis has made it possible to simultaneously analyze DNA and RNA sequences
in large cohorts of patients with cardiovascular disease. Th
is possibility raises several
interesting aspects that can be utilized in the understanding of genomic and transcriptomic
aspects of cardiovascular disease.
First, we have used these methods to address which gene transcripts are altered in several
diseases states and how they correlate to clinical disease characteristics. In a large clinical
database in patients with cerebrovascular disease undergoing carotid endarterectomy we explored the detailed gene expression
pattern related to disease phenotype.
Second, the translational step from identifi
ed disease modifying single nucleotide polymorphism (SNP) to aff
has previously been diffi
cult to complete. We utilized a novel approach of simultaneous SNP genotyping and expression
measurement in the same patients to identify which genes are coupled to disease modifying SNPs. Th
is method provided
several novel gene targets.
ird, it has been speculated that gene expression measurements may reveal patterns of expression that could serve as diagnostic
tool or prediction of disease progression. We developed this aspect in the cohort of patients with cerebrovascular disease and
ed a set of genes which expression pattern contributed to increase the diagnostic accuracy of future cardiovascular
We conclude that genome wide nucleic acid sequence analysis is an important tool to identify novel genes and pathways related
to clinical cardiovascular disease.
Anders Gabrielsen MD, PhD graduated from University of Copenhagen and continued with post-doctoral studies at Karolinska Instit
utet in the
eld of experimental cardiovascular research. Following the post-doctoral period he continued his medical education with board
Internal Medicine and Cardiology at Karolinska University Hospital where he is now working at Dept. of Cardiology. His previous
in integrative cardiovascular physiology and gene expression analysis in experimental models and clinical cardiovascular diseas
e has aided in
development of ?omics? patient biobanks with a strong emphasis on translational medicine.
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