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Screening for Rare Genetic Variants Associated with Atherosclerosis: Opportunity for Personalized Medicine

Ana Peterlin1, Daniel Petrovič2, Borut Peterlin1

  • 1Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Current Vascular Pharmacology
|February 8, 2018
PubMed

Insights

Identifying individuals with monogenic dyslipidemias is crucial for preventing atherosclerosis complications. Genetic screening, particularly using Next-Generation Sequencing, offers a powerful tool for early risk identification and personalized medicine approaches.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Preventive Cardiology

Background:

  • Atherosclerosis is a major global health burden, with many at-risk individuals undiagnosed.
  • Monogenic dyslipidemias significantly increase atherosclerosis risk but often go unrecognized.
  • Early identification of genetic predisposition is vital for effective prevention strategies.

Purpose of the Study:

  • To review the potential of genetic screening for atherosclerosis prevention.
  • To highlight the importance of identifying individuals with monogenic dyslipidemias.
  • To present key genes associated with monogenic dyslipidemias linked to atherosclerosis.

Main Methods:

  • Review of current literature on genetic testing for dyslipidemias.
  • Discussion of Next-Generation Sequencing (NGS) applications in genetic diagnostics.
  • Analysis of 17 genes implicated in monogenic dyslipidemias relevant to atherosclerosis.

Main Results:

  • Next-Generation Sequencing has transformed genetic testing for symptomatic patients.
  • Genome testing shows promise for identifying individuals at high risk for atherosclerosis.
  • Personalized medicine in atherosclerosis prevention may be advanced through genetic screening.

Conclusions:

  • Genetic screening holds significant potential for the early identification and prevention of atherosclerosis.
  • Targeting 17 specific genes offers a focused approach to diagnosing monogenic dyslipidemias.
  • Implementing genetic screening can facilitate personalized medicine for atherosclerosis risk reduction.

Keywords:
Atherosclerosiscerebrovascular diseasecoronary artery diseasemonogenic dyslipidaemianext generation sequencingpublic health genomicsscreening.

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