Genetics of Familial Hypercholesterolemia: New Insights

VRABLIK, Michal, Lukas TICHY, Tomáš FREIBERGER, Vladimir BLAHA, Martin SATNY and Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, vol. 11, OCT 2020, p. 1-10. ISSN 1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2020.574474.

Basic information

• Original name: Genetics of Familial Hypercholesterolemia: New Insights
• Authors: VRABLIK, Michal (203 Czech Republic, guarantor), Lukas TICHY (203 Czech Republic), Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), Vladimir BLAHA (203 Czech Republic), Martin SATNY (203 Czech Republic) and Jaroslav A. HUBACEK (203 Czech Republic).
• Edition: Frontiers in Genetics, Laussane, FRONTIERS MEDIA SA, 2020, 1664-8021.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30101 Human genetics
• Country of publisher: Switzerland
• Confidentiality degree: is not subject to a state or trade secret
• WWW: URL
• Impact factor: Impact factor: 4.599
• RIV identification code: RIV/00216224:14110/20:00116818
• Organization unit: Faculty of Medicine
• Doi: http://dx.doi.org/10.3389/fgene.2020.574474
• UT WoS: 000579816200001
• Keywords in English: familial hypercholesterolemia; gene score; epidemiology; variants; polygenic FH
• Tags: 14110114, rivok
• Tags: International impact, Reviewed

Abstract

Familial hypercholesterolemia (FH) is one of the most common monogenic diseases, leading to an increased risk of premature atherosclerosis and its cardiovascular complications due to its effect on plasma cholesterol levels. Variants of three genes (LDL-R,APOBandPCSK9) are the major causes of FH, but in some probands, the FH phenotype is associated with variants of other genes. Alternatively, the typical clinical picture of FH can result from the accumulation of common cholesterol-increasing alleles (polygenic FH). Although the Czech Republic is one of the most successful countries with respect to FH detection, approximately 80% of FH patients remain undiagnosed. The opportunities for international collaboration and experience sharing within international programs (e.g., EAS FHSC, ScreenPro FH, etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.