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Curr Cardiol Rep. 2017 May;19(5):46. doi: 10.1007/s11886-017-0855-9.

Genetics of Dyslipidemia and Ischemic Heart Disease.

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Ohio Health Heart and Vascular Physicians, 765 North Hamilton Road, Suite 120, Gahanna, OH, 43230, USA.
The Ohio State University Wexner Medical Center, Suite 200, 473 West 12th Avenue, Columbus, OH, 43210, USA.



Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. The disorders of familial hypercholesterolemia (FH) and elevated lipoprotein(a) will be detailed. Genetic technology has made rapid advancements, leading to new discoveries in inherited atherogenic dyslipidemias, which will be explored in this review, as well as a description of possible future developments. Increasing attention has come upon the genetic disorders of familial hypercholesterolemia and elevated lipoprotein(a).


This review includes new knowledge of these disorders including description of these disorders, their method of diagnosis, their prevalence, their genetic underpinnings, and their effect on the development of cardiovascular disease. In addition, it discusses major advances in genetic technology, including the completion of the human genome sequence, next-generation sequencing, and genome-wide association studies. Also discussed are rare variant studies with specific genetic mechanisms involved in inherited dyslipidemias, such as in the proprotein convertase subtilisin/kexin type 9 (PCSK9) enzyme. The field of genetics of dyslipidemia and cardiovascular disease is rapidly growing, which will result in a bright future of novel mechanisms of action and new therapeutics.


Atherosclerosis; Dyslipidemia; Familial combined hyperlipidemia; Familial hypercholesterolemia; Ischemic heart disease; Lipoprotein(a)

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