Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

By Jonathan C. Cohen, Eric Boerwinkle, T. Mosley, Helen H. Hobbs. 2006

3,129 citations recorded by the source corpus.

Subfields: Cancer Research, Genetics, Surgery

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Citations in the corpus

Therapeutic RNAi targeting PCSK9 acutely lowers plasma cholesterol in rodents and LDL cholesterol in nonhuman primates (2008, background): “In a larger 15-year prospective study, they demonstrated that nonsense mutations in PCSK9 reduced LDLc levels by 28% and decreased the frequency of CHD by 88% in African Americans (8).”
Copy-number variation and association studies of human disease (2007, background): “An important precedent for such reasoning is the argument that diverse sequence variants in candidate genes are more frequently found in affected individuals than in control”
Mechanisms and disease consequences of nonalcoholic fatty liver disease (2021, background): “The approach replicates the successful strategy of antagonizing PCSK9 following the discovery that variants of this gene that attenuate its activity confer protection from coronary artery disease (Cohen et al., 2006).”
How to improve R&D productivity: the pharmaceutical industry's grand challenge (2010, background): “Conversely, loss-of-function mutations are associated with very low serum LDL–cholesterol and a striking reduction in the incidence of CH”
Testing for an Unusual Distribution of Rare Variants (2011, background): “have a substantial effect on serum low-density lipoprotein cholesterol (LDL-C) [1], these variants influence risk or protection to myocardial infarction by only a factor of 2 [2,3].”
Molecular biology of PCSK9: its role in LDL metabolism. (2007, background): “Three loss-of-function mutations in PCSK9 – Y142X and C679X in African-Americans, and R46L in Caucasians –were sufficiently common to address a more general question regarding the relationship between plasma levels of LDL-C and CHD: do life-long reductions in plasma levels of LDL-C confer greater pr”
Next-generation genotype imputation service and methods (2016, background): “These rare and low-frequency variants include most loss-of-function alleles 10 and other high-impact variants that are key for genotype-based callback and focused studies of natural knockout alleles 11–13 .”
Integrated detection and population-genetic analysis of SNPs and copy number variation (2008, background): “Rare CNVs represent a leading edge of a next frontier of human genetics research, which involves studying collections of rare variant”
2019 ESC/EAS guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk. (2019, background): “Furthermore, Mendelian randomization studies have demonstrated that long-term exposure to lower LDL-C levels is associated with a much lower risk of CV events as compared with shorter-term exposure to lower LDL-C (as achieved, for example, in randomized trials).(48,52) These data provide strong supp”