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

[ Vol. 17 , Issue. 1 ]


Ana Peterlin, Daniel Petrovič and Borut Peterlin*   Pages 25 - 28 ( 4 )


Atherosclerosis and its clinical manifestations is a leading cause of disease burden worldwide. Currently, most of the individuals carrying a strong predisposition to complications of atherosclerosis because of monogenic dyslipidaemias remain undiagnosed and consequently are not given an opportunity for prevention. Therefore, one of the main public health challenges remains the identification of individuals with significantly increased risk for atherosclerosis due to monogenic predisposition. Next-Generation Sequencing (NGS) has revolutionized genetic testing in symptomatic patients. Although new genomic technologies are still developing, and evidence on the use of this methodology for screening purposes is still lacking, genome testing might provide a powerful tool for the identification of individuals at risk. This may pave the way for the implementation of personalized medicine in the field of atherosclerosis prevention.

In this review, we discuss the potential of genetic screening for atherosclerosis prevention and present the potential target of 17 genes responsible for monogenic dyslipidaemias associated with atherosclerosis.


Atherosclerosis, coronary artery disease, cerebrovascular disease, screening, next generation sequencing, public health genomics, monogenic dyslipidaemia.


Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Institute of Histology and Embryology, Faculty of Medicine, University of Ljubljana, Ljubljana, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana

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