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Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial
Finding a mutation to confirm a clinical diagnosis of FH in a previously aware population does not reduce perceptions of control or adherence to risk‐reducing behaviors, leading to the new hypothesis that genetic testing does not affect the extent to which people feel they have control over a condition, but does affect their perceptions of how control is most effectively achieved.
The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
Drug discovery has linked enhancement of LDL receptor function to LDL-C lowering and successful prevention of ischemic heart disease, first with statins and now with newer drugs that affect LDL receptors function in other ways, including those that impair PCSK9 regulation of LDL receptors recycling.
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection
HNF-4α mutations are common when no HNF-1α mutation is found in strictly defined MODY families and are associated with reduced apolipoprotein A2 levels.
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism.
A flexible bioinformatics tool is developed and validated that utilizes SNP data to enable accurate, high-throughput genotyping of the 8p23.1 inversion, demonstrating its evolutionarily dynamic structure can now be accommodated into the understanding of human genetic and phenotypic diversity.
Homocysteine and cardiovascular disease: a review of the evidence
- A. Wierzbicki
- BiologyDiabetes & vascular disease research
- 1 June 2007
Although some lipid-modifying treatments have been shown to increase HCY levels, there is no evidence that this attenuates or compromises the beneficial effects of such treatments on cardiovascular risk, and therefore data suggest that HCY is a marker, rather than a cause, of CVD.
Biological variation in HbA1c predicts risk of retinopathy and nephropathy in type 1 diabetes.
This work states that mean blood glucose (MBG)-associated changes are included in biological variation and that all population regression equations have confidence limits that need to be taken into account when comparing values from individuals to the population study mean.
The GREek Atorvastatin and Coronary-heart-disease Evaluation (GREACE) study.
Relation of erectile dysfunction to angiographic coronary artery disease.
Multiple actions of high-density lipoprotein
- M. Florentin, E. Liberopoulos, A. Wierzbicki, D. Mikhailidis
- Chemistry, BiologyCurrent opinion in cardiology
- 1 July 2008
Current data suggest that high-density lipoprotein possesses various properties beyond reverse cholesterol transport, however, many issues on the exact role of high- density lipop protein remain unknown.
Familial hypercholesterolaemia: summary of NICE guidance
This article summarises the most recent recommendations from the National Institute for Health and Clinical Excellence (NICE) on diagnosing and managing familial hypercholesterolaemia.