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.

Základní údaje

Originální název

Genetics of Familial Hypercholesterolemia: New Insights

Autoři

VRABLIK, Michal (203 Česká republika, garant), Lukas TICHY (203 Česká republika), Tomáš FREIBERGER (203 Česká republika, domácí), Vladimir BLAHA (203 Česká republika), Martin SATNY (203 Česká republika) a Jaroslav A. HUBACEK (203 Česká republika)

Vydání

Frontiers in Genetics, Laussane, FRONTIERS MEDIA SA, 2020, 1664-8021

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.599

Kód RIV

RIV/00216224:14110/20:00116818

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.3389/fgene.2020.574474

UT WoS

000579816200001

Klíčová slova anglicky

familial hypercholesterolemia; gene score; epidemiology; variants; polygenic FH

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 4. 11. 2020 14:00, Mgr. Tereza Miškechová

Anotace

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 a Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, roč. 11, OCT 2020, s. 1-10. ISSN 1664-8021. Dostupné z: 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 a Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. \textit{Frontiers in Genetics}. Laussane: FRONTIERS MEDIA SA, 2020, roč.~11, OCT 2020, s.~1-10. ISSN~1664-8021. Dostupné z: https://dx.doi.org/10.3389/fgene.2020.574474.

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