Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE The new treatment strategies for lipid-lowering therapy include using proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors as an exciting approach to reduce residual risk of cardiovascular diseases (CVD). 27865998 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9. 27919364 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE In the entire cohort, the third vs first tertile of PCSK9 was not associated with the risk of death from any cause (hazard ratio = 1.09, p = 0.367) and from cardiovascular diseases (hazard ratio = 1.09, p = 0.476). 28436724 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE As such, loss-of-function (LOF) PCSK9 variants that fail to exit the endoplasmic reticulum (ER) increase hepatic LDLR levels and lower the risk of developing CVD. 29593095 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Loss-of-function (LOF) mutations of PCSK9 and PCSK9 inhibitors lower low-density lipoprotein cholesterol (LDL-C) and have been associated with a reduced risk of cardiovascular disease. 29562810 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE LDLR and PCSK9 polymorphisms have been associated with higher lipid levels and risk of cardiovascular diseases. 31441123 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Therefore, we hypothesized that certain <i>PCSK9</i> genetic variants may modify the association between LC n-3 PUFA intake and CVD risk.<b>Objective:</b> We determined whether a <i>PCSK9</i> variant (rs11206510), which has been identified for early onset myocardial infarction (MI), modified the association of LC n-3 PUFAs with nonfatal MI risk in Costa Rican Hispanics.<b>Design:</b> We analyzed cross-sectional data from 1932 case subjects with a first nonfatal MI and 2055 population-based control subjects who were living in Costa Rica to examine potential gene-environment interactions. 28330911 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Different therapies have been suggested and some are used to treat elevated lipoprotein(a) levels such as niacin, PCSK9 inhibitors, and CETP inhibitors; however, to date, no randomized controlled trial has demonstrated that lowering of lipoprotein(a) leads to lower risk of cardiovascular disease. 31111240 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Although PCSK9 inhibitors were shown to reduce the risk of cardiovascular disease, a warning was issued concerning their possible impact on cognitive functions. 31437157 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Although lipid-lowering drugs, especially statins, and recently also PCSK9 inhibitors can reduce LDL cholesterol (LDL-C) and decrease the risk for cardiovascular disease (CVD) including coronary artery disease (CAD) events most efficiently, only 5-10% of high-risk cardiovascular patients reach the target values recommended by international guidelines. 31818446 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Rare gain-of-function PCSK9 variants lead to higher levels of LDL-cholesterol and increased risk of cardiovascular disease; more common loss-of-function PCSK9 variants are associated with reductions in both LDL-cholesterol and risk of cardiovascular disease. 24625727 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE More than a decade ago, it was accidentally discovered that proprotein convertase subtilisin/kexin type 9 (PCSK9) loss-of-function mutations resulted in marked lifelong reduction of LDL-C and the incidence of cardiovascular disease (CVD). 30306859 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Characteristics associated with a higher CVD risk may inform the decision to initiate PCSK9 inhibition. 30746585 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE In two large clinical trials, PCSK9 inhibitor treatment reduced the risk of cardiovascular disease. 31280039 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE A Review of PCSK9 Inhibitors and their Effects on Cardiovascular Diseases. 31400268 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group LHGDN The D374Y gain-of-function mutant, associated with hypercholesterolemia and early-onset cardiovascular disease, binds the receptor 25 times more tightly than wild-type PCSK9 at neutral pH and remains exclusively in a high-affinity complex at the acidic pH. 17435765 2007
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Our data support the concept that the rare allele of the R46L SNP at the PCSK9 locus significantly lowers LDL C, but does not greatly reduce CHD risk in an elderly population with a high prevalence of cardiovascular disease. 18262190 2008
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE A risk factor for cardiovascular disease (CVD), mutant PCSK9, was expressed in APP/PS1 mice to study the CVD-Alzheimer's disease inter-relationship. 30124449 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE The recent advent of a highly efficacious class of low-density lipoprotein cholesterol (LDL-C) lowering agents, the proprotein convertase subtilisin/kexin type-9 (PCSK9) inhibitors, has transformed dyslipidaemia management in patients with cardiovascular disease as well as those with familial hypercholesterolemia. 28557865 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Both OLR1 and PCSK9 genes are associated with atherosclerosis, cardiovascular disease and ischemic stroke. 26666837 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Although short-term trials have suggested that PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors are safe and reduce risk of cardiovascular diseases, their long-term safety is unclear. 30645167 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE Indeed, subjects with null mutations in certain genes controlling lipoprotein metabolism like PCSK9 or ANGPTL-3 have a lower risk of cardiovascular disease. 29498010 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE We analyzed the association of the PCSK9 rs11591147 single-nucleotide polymorphism with lipid levels, intima-media thickness (IMT), and the ankle-brachial index, in 1188 adults free of cardiovascular disease, randomly selected from the population. 29773421 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.200 GeneticVariation group BEFREE PCSK9 GOF mutation carriers have elevated LDL-C levels and are at high risk of premature cardiovascular disease. 26374825 2015