Genetics of Familial Hypercholesterolemia: New Insights

J 2020

Genetics of Familial Hypercholesterolemia: New Insights

VRABLIK, Michal, Lukas TICHY, Tomáš FREIBERGER, Vladimir BLAHA, Martin SATNY et. al.

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30101 Human genetics

Country of publisher

Switzerland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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.

Citovat

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.

@article{1688924,
   author = {Vrablik, Michal and Tichy, Lukas and Freiberger, Tomáš and Blaha, Vladimir and Satny, Martin and Hubacek, Jaroslav A.},
   article_location = {Laussane},
   article_number = {OCT 2020},
   doi = {http://dx.doi.org/10.3389/fgene.2020.574474},
   keywords = {familial hypercholesterolemia; gene score; epidemiology; variants; polygenic FH},
   language = {eng},
   issn = {1664-8021},
   journal = {Frontiers in Genetics},
   title = {Genetics of Familial Hypercholesterolemia: New Insights},
   url = {https://www.frontiersin.org/articles/10.3389/fgene.2020.574474/full},
   volume = {11},
   year = {2020}
}

TY  - JOUR
ID  - 1688924
AU  - Vrablik, Michal - Tichy, Lukas - Freiberger, Tomáš - Blaha, Vladimir - Satny, Martin - Hubacek, Jaroslav A.
PY  - 2020
TI  - Genetics of Familial Hypercholesterolemia: New Insights
JF  - Frontiers in Genetics
VL  - 11
IS  - OCT 2020
SP  - 1-10
EP  - 1-10
PB  - FRONTIERS MEDIA SA
SN  - 16648021
KW  - familial hypercholesterolemia
KW  - gene score
KW  - epidemiology
KW  - variants
KW  - polygenic FH
UR  - https://www.frontiersin.org/articles/10.3389/fgene.2020.574474/full
L2  - https://www.frontiersin.org/articles/10.3389/fgene.2020.574474/full
N2  - 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.
ER  -

VRABLIK, Michal, Lukas TICHY, Tomáš FREIBERGER, Vladimir BLAHA, Martin SATNY and Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. \textit{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.

Detailed Information on Publication Record