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Open AccessReview

Genes Potentially Associated with Familial Hypercholesterolemia

Federal research center Institute of Cytology and Genetics, SB RAS, 630090 Novosibirsk, Russia
Institute of Internal and Preventive Medicine—branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), 630004 Novosibirsk, Russia
Author to whom correspondence should be addressed.
Biomolecules 2019, 9(12), 807;
Received: 7 October 2019 / Revised: 24 November 2019 / Accepted: 26 November 2019 / Published: 29 November 2019
(This article belongs to the Special Issue Bioactive Lipids in Health and Disease)
This review addresses the contribution of some genes to the phenotype of familial hypercholesterolemia. At present, it is known that the pathogenesis of this disease involves not only a pathological variant of low-density lipoprotein receptor and its ligands (apolipoprotein B, proprotein convertase subtilisin/kexin type 9 or low-density lipoprotein receptor adaptor protein 1), but also lipids, including sphingolipids, fatty acids, and sterols. The genetic cause of familial hypercholesterolemia is unknown in 20%–40% of the cases. The genes STAP1 (signal transducing adaptor family member 1), CYP7A1 (cytochrome P450 family 7 subfamily A member 1), LIPA (lipase A, lysosomal acid type), ABCG5 (ATP binding cassette subfamily G member 5), ABCG8 (ATP binding cassette subfamily G member 8), and PNPLA5 (patatin like phospholipase domain containing 5), which can cause aberrations of lipid metabolism, are being evaluated as new targets for the diagnosis and personalized management of familial hypercholesterolemia. View Full-Text
Keywords: Familial hypercholesterolemia; STAP1; CYP7A1; LIPA; ABCG5; ABCG8; PNPLA5 Familial hypercholesterolemia; STAP1; CYP7A1; LIPA; ABCG5; ABCG8; PNPLA5
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Mikhailova, S.; Ivanoshchuk, D.; Timoshchenko, O.; Shakhtshneider, E. Genes Potentially Associated with Familial Hypercholesterolemia. Biomolecules 2019, 9, 807.

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