Genetic markers in hypercholesterolemic and normocholesterolemic Czech children

Hubáček, J.; Písa, Z; Pistulková, H; Valenta, Zdeněk

doi:10.1111/j.1399-0004.1994.tb04208.x

Cited by 5 publications

(1 citation statement)

References 8 publications

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“…The term “polygenic familial hypercholesterolemia” was probably first mentioned by Talmud et al (2013) , although simultaneous analyses of more genes to describe the polygenic nature of hypercholesterolemia are much older (for example, Pedersen and Berg, 1990 ; Poledne et al, 1994 ).…”

Section: Familial Hypercholesterolemiamentioning

confidence: 99%

Genetics of Familial Hypercholesterolemia: New Insights

et al. 2020

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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 , APOB and PCSK9 ) 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.

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Section: Familial Hypercholesterolemiamentioning

confidence: 99%

Genetics of Familial Hypercholesterolemia: New Insights

et al. 2020

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Genes and Plasma Lipids in Czech Slavic Population

Hubáček

2011

Genes and Cardiovascular Function

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Apolipoprotein E genotypes in offspring with a positive and negative family history of premature myocardial infarction

et al. 1998

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Apolipoprotein E (apo‐E) aliele and genotype frequencies were evaluated in offspring with positive (MI‐offspring) and negative (control‐offspring) parental history of myocardial infarction (MI). The apo‐E allele frequencies in MI‐and control‐offspring were as follows: ε2: 9.04 and 2.08% (p < 0.02), ε3: 84.04 and 87.5%. ε4: 6.91 and 10.41%, respectively. The frequencies of the E2‐genotypes were significantly lower in offspring of controls (4.2%, 17.0%, respectively, p < 0.03). The ε2‐allele is associated with raised plasma triglyceride concentrations in subjects on a diet high in saturated fat. We therefore hypothesize that offspring carrying an ε2‐allele are predisposed to develop disturbance of plasma triglyceride metabolism when exposed to a traditional Slovak high‐fat diet and/or weight gain, resulting in altered lipid levels and increased predisposition to atherosclerosis.

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Genetic markers in hypercholesterolemic and normocholesterolemic Czech children

Cited by 5 publications

References 8 publications

Genetics of Familial Hypercholesterolemia: New Insights

Genetics of Familial Hypercholesterolemia: New Insights

Genes and Plasma Lipids in Czech Slavic Population

Apolipoprotein E genotypes in offspring with a positive and negative family history of premature myocardial infarction

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