Association of PCSK9 Variants With the Risk of Atherosclerotic Cardiovascular Disease and Variable Responses to PCSK9 Inhibitor Therapy
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Davies, 2018, Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians, BMJ, 362, k601, 10.1136/bmj.k601
Bays, 2018, Assessment of the 1% of patients with consistent <15% reduction in low-density lipoprotein cholesterol: pooled analysis of 10 phase 3 ODYSSEY alirocumab trials, Cardiovasc Drug Ther, 32, 175, 10.1007/s10557-018-6784-z
Johnson, 2001, Drug target pharmacogenomics: an overview, Am J Pharmacogenomics, 1, 271, 10.2165/00129785-200101040-00004
Virani, 2021, American heart association council on E, prevention statistics C and stroke statistics S. heart disease and stroke statistics-2021 update: a report from the American heart association, Circulation, 143, e254, 10.1161/CIR.0000000000000950
Fryar, 2012, Prevalence of uncontrolled risk factors for cardiovascular disease: United States, 1999-2010, NCHS Data Brief, 1
Catapano, 2016, 2016 ESC/EAS guidelines for the management of dyslipidaemias, Eur Heart J, 37, 2999, 10.1093/eurheartj/ehw272
Ference, 2012, Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis, J Am Coll Cardiol, 60, 2631, 10.1016/j.jacc.2012.09.017
Maxwell, 2004, Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype, Proc Natl Acad Sci USA, 101, 7100, 10.1073/pnas.0402133101
Park, 2004, Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver, J Biol Chem, 279, 50630, 10.1074/jbc.M410077200
Benjannet, 2004, NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol, J Biol Chem, 279, 48865, 10.1074/jbc.M409699200
Di Taranto MD, 2017, Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia, Sci Rep, 7, 15282, 10.1038/s41598-017-15543-x
Kaya, 2017, PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia, Anatol J Cardiol, 18, 266
Manocha, 2016, Lipoprotein: a unique independent risk factor for coronary artery disease, Indian J Clin Biochem, 31, 13, 10.1007/s12291-015-0483-3
Iannuzzo, 2021, Lipoprotein(a) where do we stand? from the physiopathology to innovative terapy, Biomedicines, 9, 10.3390/biomedicines9070838
Bennet, 2008, Lipoprotein(a) levels and risk of future coronary heart disease: large-scale prospective data, Arch Intern Med, 168, 598, 10.1001/archinte.168.6.598
Craig, 1998, Lipoprotein(a) as a risk factor for ischemic heart disease: metaanalysis of prospective studies, Clin Chem, 44, 2301, 10.1093/clinchem/44.11.2301
Danesh, 2000, Lipoprotein(a) and coronary heart disease. Meta-analysis of prospective studies, Circulation, 102, 1082, 10.1161/01.CIR.102.10.1082
Kamstrup, 2009, Genetically elevated lipoprotein(a) and increased risk of myocardial infarction, Jama, 301, 2331, 10.1001/jama.2009.801
Kronenberg, 2013, Lipoprotein(a): resurrected by genetics, J Intern Med, 273, 6, 10.1111/j.1365-2796.2012.02592.x
Sandholzer, 1992, Apo(a) isoforms predict risk for coronary heart disease. A study in six populations, Arterioscler Thromb, 12, 1214, 10.1161/01.ATV.12.10.1214
Tsimikas, 2018, NHLBI working group recommendations to reduce lipoprotein(a)-mediated risk of cardiovascular disease and aortic stenosis, J Am Coll Cardiol, 71, 177, 10.1016/j.jacc.2017.11.014
Reyes-Soffer, 2017, Effects of PCSK9 inhibition with alirocumab on lipoprotein metabolism in healthy humans, Circulation, 135, 352, 10.1161/CIRCULATIONAHA.116.025253
Villard, 2016, PCSK9 modulates the secretion but not the cellular uptake of lipoprotein(a) ex vivo: an effect blunted by Alirocumab, JACC Basic Transl Sci, 1, 419, 10.1016/j.jacbts.2016.06.006
O'Donoghue, 2019, Lipoprotein(a), PCSK9 inhibition, and cardiovascular risk, Circulation, 139, 1483, 10.1161/CIRCULATIONAHA.118.037184
Reiner, 2015, Management of patients with familial hypercholesterolaemia, Nat Rev Cardiol, 12, 565, 10.1038/nrcardio.2015.92
Reiner, 2015, PCSK9 inhibitors – past, present and future, Expert Opin Drug Metab Toxicol, 11, 1517, 10.1517/17425255.2015.1075506
Navarese, 2015, Effects of proprotein convertase Subtilisin/Kexin Type 9 antibodies in adults with hypercholesterolemia: a systematic review and meta-analysis, Ann Intern Med, 163, 40, 10.7326/M14-2957
Ito, 2015, Challenges in the diagnosis and treatment of homozygous familial hypercholesterolemia, Drugs, 75, 1715, 10.1007/s40265-015-0466-y
Sabatine, 2017, Evolocumab and clinical outcomes in patients with cardiovascular disease, N Engl J Med, 376, 1713, 10.1056/NEJMoa1615664
Robinson, 2014, Effect of evolocumab or ezetimibe added to moderate- or high-intensity statin therapy on LDL-C lowering in patients with hypercholesterolemia: the LAPLACE-2 randomized clinical trial, Jama, 311, 1870, 10.1001/jama.2014.4030
Koren, 2014, Anti-PCSK9 monotherapy for hypercholesterolemia: the MENDEL-2 randomized, controlled phase III clinical trial of evolocumab, J Am Coll Cardiol, 63, 2531, 10.1016/j.jacc.2014.03.018
Koren, 2019, Long-term efficacy and safety of Evolocumab in patients with hypercholesterolemia, J Am Coll Cardiol, 74, 2132, 10.1016/j.jacc.2019.08.1024
Koskinas, 2019, Evolocumab for early reduction of LDL cholesterol levels in patients with acute coronary syndromes (EVOPACS), J Am Coll Cardiol, 74, 2452, 10.1016/j.jacc.2019.08.010
Raal, 2015, Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial, Lancet, 385, 341, 10.1016/S0140-6736(14)61374-X
Raal, 2015, PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial, Lancet, 385, 331, 10.1016/S0140-6736(14)61399-4
Effect of Evolocumab in Patients at High Cardiovascular Risk Without Prior Myocardial Infarction or Stroke (VESALIUS-CV).
Kereiakes, 2015, Efficacy and safety of the proprotein convertase subtilisin/kexin type 9 inhibitor alirocumab among high cardiovascular risk patients on maximally tolerated statin therapy: the ODYSSEY COMBO I study, Am Heart J, 169, 906, 10.1016/j.ahj.2015.03.004
Roth, 2014, Monotherapy with the PCSK9 inhibitor alirocumab versus ezetimibe in patients with hypercholesterolemia: results of a 24 week, double-blind, randomized Phase 3 trial, Int J Cardiol, 176, 55, 10.1016/j.ijcard.2014.06.049
Cannon, 2015, Efficacy and safety of alirocumab in high cardiovascular risk patients with inadequately controlled hypercholesterolaemia on maximally tolerated doses of statins: the ODYSSEY COMBO II randomized controlled trial, Eur Heart J, 36, 1186, 10.1093/eurheartj/ehv028
Roth EM, Moriarty PM, Bergeron J, investigators OCI, et al. A phase III randomized trial evaluating alirocumab 300 mg every 4 weeks as monotherapy or add-on to statin: ODYSSEY CHOICE I. Atherosclerosis. 2016;254:254-262.
Robinson, 2015, Efficacy and safety of alirocumab in reducing lipids and cardiovascular events, N Engl J Med, 372, 1489, 10.1056/NEJMoa1501031
Kastelein, 2015, ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia, Eur Heart J, 36, 2996
Blom, 2020, Efficacy and Safety of Alirocumab in Adults With Homozygous Familial Hypercholesterolemia: The ODYSSEY HoFH Trial, J Am Coll Cardiol, 76, 131, 10.1016/j.jacc.2020.05.027
Gavrilov, 2012, Therapeutic siRNA: principles, challenges, and strategies, Yale J Biol Med, 85, 187
Raal, 2020, Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia, N Engl J Med, 382, 1520, 10.1056/NEJMoa1913805
Ray, 2020, Two phase 3 trials of Inclisiran in patients with elevated LDL cholesterol, N Engl J Med, 382, 1507, 10.1056/NEJMoa1912387
Wright, 2021, Pooled patient-level analysis of Inclisiran trials in patients with familial hypercholesterolemia or atherosclerosis, J Am Coll Cardiol, 77, 1182, 10.1016/j.jacc.2020.12.058
Bartel, 2004, MicroRNAs: genomics, biogenesis, mechanism, and function, Cell, 116, 281, 10.1016/S0092-8674(04)00045-5
Jovanovic, 2006, miRNAs and apoptosis: RNAs to die for, Oncogene, 25, 6176, 10.1038/sj.onc.1209912
Lin, 2015, MicroRNA biogenesis pathways in cancer, Nature reviews Cancer, 15, 321, 10.1038/nrc3932
Moore, 2010, microRNAs and cholesterol metabolism, Trends Endocrinol Metab, 21, 699, 10.1016/j.tem.2010.08.008
Goedeke, 2016, miRNA regulation of LDL-cholesterol metabolism, Biochim Biophys Acta Mol Cell Biol Lipids, 1861, 2047, 10.1016/j.bbalip.2016.03.007
Esau, 2006, miR-122 regulation of lipid metabolism revealed by in vivo antisense targeting, Cell metabolism, 3, 87, 10.1016/j.cmet.2006.01.005
Mohammadmoradi, 2017, Abstract 566: MicroRNA-146a deficiency prevents PCSK9 gain-of-function mutation-induced hypercholesterolemia in mice, Arterioscler Thromb Vasc Biol, 37, A566, 10.1161/atvb.37.suppl_1.566
Bai, 2017, A retrospective study of NENs and miR-224 promotes apoptosis of BON-1 cells by targeting PCSK9 inhibition, Oncotarget, 8, 6929, 10.18632/oncotarget.14322
Alvarez, 2015, MicroRNA-27a decreases the level and efficiency of the LDL receptor and contributes to the dysregulation of cholesterol homeostasis, Atherosclerosis, 242, 595, 10.1016/j.atherosclerosis.2015.08.023
Momtazi, 2017, PCSK9 and diabetes: is there a link?, Drug Discovery Today, 22, 883, 10.1016/j.drudis.2017.01.006
Momtazi, 2017, PCSK9 inhibitors in sepsis: a new potential indication?, Expert Opin Investig Drugs, 26, 137, 10.1080/13543784.2017.1272570
Li, 2016, MicroRNA-132 cause apoptosis of glioma cells through blockade of the SREBP-1c metabolic pathway related to SIRT1, Biomed Pharmacother, 78, 177, 10.1016/j.biopha.2016.01.022
Li, 2013, MicroRNA-185 and 342 inhibit tumorigenicity and induce apoptosis through blockade of the SREBP metabolic pathway in prostate cancer cells, PloS one, 8, e70987, 10.1371/journal.pone.0070987
Yang, 2014, Identification of miR-185 as a regulator of de novo cholesterol biosynthesis and low density lipoprotein uptake, J Lipid Res, 55, 226, 10.1194/jlr.M041335
Cohen, 2005, Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9, Nat Genet, 37, 161, 10.1038/ng1509
Berge, 2006, Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy, Arterioscler Thromb Vasc Biol, 26, 1094, 10.1161/01.ATV.0000204337.81286.1c
Kotowski, 2006, A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol, Am J Hum Genet, 78, 410, 10.1086/500615
Cohen, 2006, Sequence variations in PCSK9, low LDL, and protection against coronary heart disease, N Engl J Med, 354, 1264, 10.1056/NEJMoa054013
Kent, 2017, PCSK9 loss-of-function variants, low-density lipoprotein cholesterol, and risk of coronary heart disease and stroke: data from 9 studies of blacks and whites, Circ Cardiovasc Genet, 10, 10.1161/CIRCGENETICS.116.001632
Benn, 2010, PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses, J Am Coll Cardiol, 55, 2833, 10.1016/j.jacc.2010.02.044
Scartezini, 2007, The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men, Clinical Sci, 113, 435, 10.1042/CS20070150
Chernogubova, 2012, Common and low-frequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels, Arterioscler Thromb Vasc Biol, 32, 1526, 10.1161/ATVBAHA.111.240549
Postmus, 2013, PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population, J Lipid Res, 54, 561, 10.1194/jlr.M033969
Tsai, 2015, Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians, J Clin Endocrinol Metab, 100, E345, 10.1210/jc.2014-3340
Kathiresan, 2008, A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction, N Engl J Med, 358, 2299, 10.1056/NEJMc0707445
Guella, 2010, Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population, J Lipid Res, 51, 3342, 10.1194/jlr.M010009
Nikpay, 2015, A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease, Nat Genet, 47, 1121, 10.1038/ng.3396
Jeenduang, 2015, Combined PCSK9 and APOE polymorphisms are genetic risk factors associated with elevated plasma lipid levels in a Thai population, Lipids, 50, 543, 10.1007/s11745-015-4017-9
Mayne, 2013, Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations, Lipids Health Dis, 12, 70, 10.1186/1476-511X-12-70
Shioji, 2004, Genetic variants in PCSK9 affect the cholesterol level in Japanese, J Hum Genet, 49, 109, 10.1007/s10038-003-0114-3
He, 2016, E670G polymorphism of PCSK9 gene of patients with coronary heart disease among Han population in Hainan and three provinces in the northeast of China, Asian Pac J Trop Med, 9, 172, 10.1016/j.apjtm.2016.01.008
Hsu, 2009, The PCSK9 gene E670G polymorphism affects low-density lipoprotein cholesterol levels but is not a risk factor for coronary artery disease in ethnic Chinese in Taiwan, Clin Chem Lab Med, 47, 154, 10.1515/CCLM.2009.032
Slimani, 2014, Effect of E670G Polymorphism in PCSK9 gene on the risk and severity of coronary heart disease and ischemic stroke in a Tunisian cohort, J Mol Neurosci, 53, 150, 10.1007/s12031-014-0238-2
Xu, 2010, Minor allele C of chromosome 1p32 single nucleotide polymorphism rs11206510 confers risk of ischemic stroke in the Chinese Han population, Stroke, 41, 1587, 10.1161/STROKEAHA.110.583096
Kathiresan, 2009, Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants, Nat Genet, 41, 334, 10.1038/ng.327
Zhang, 2013, Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis, Clinical biochemistry, 46, 727, 10.1016/j.clinbiochem.2013.01.013
Dorado, 2014, Relationship between the CYP2C9 IVS8-109A>T polymorphism and high losartan hydroxylation in healthy Ecuadorian volunteers, Pharmacogenomics, 15, 1417, 10.2217/pgs.14.85
Hamadeh, 2014, Impact of CYP2D6 polymorphisms on clinical efficacy and tolerability of metoprolol tartrate, Clin Pharmacol Ther, 96, 175, 10.1038/clpt.2014.62
Uchida, 2003, Altered pharmacokinetics and excessive hypotensive effect of candesartan in a patient with the CYP2C91/3 genotype, Clin Pharmacol Ther, 74, 505, 10.1016/j.clpt.2003.08.001
Higashi, 2002, Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy, Jama, 287, 1690, 10.1001/jama.287.13.1690
Cohen, 2006, Sequence variations in PCSK9, low LDL, and protection against coronary heart disease, N Engl J Med, 354, 1264, 10.1056/NEJMoa054013
Huang, 2009, Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the coronary artery risk development in young adults study, Circ Cardiovasc Genet, 2, 354, 10.1161/CIRCGENETICS.108.828467
Qamar, 2019, Interindividual variation in low-density lipoprotein cholesterol level reduction with Evolocumab: an analysis of FOURIER trial data, JAMA Cardiol, 4, 59, 10.1001/jamacardio.2018.4178
Ridker, 2017, Lipid-reduction variability and antidrug-antibody formation with Bococizumab, N Engl J Med, 376, 1517, 10.1056/NEJMoa1614062
Farnier, 2015, An evaluation of alirocumab for the treatment of hypercholesterolemia, Expert Rev Cardiovasc Ther, 13, 1307, 10.1586/14779072.2015.1111759
Warden, 2020, Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol, Am J Prev Cardiol, 1, 10.1016/j.ajpc.2020.100012
Edmiston, 2017, Discordant response of low-density lipoprotein cholesterol and lipoprotein(a) levels to monoclonal antibodies targeting proprotein convertase subtilisin/kexin type 9, J Clin Lipidol, 11, 667, 10.1016/j.jacl.2017.03.001
Cong, 2013, Multiplex genome engineering using CRISPR/Cas systems, Science, 339, 819, 10.1126/science.1231143
Carreras, 2019, In vivo genome and base editing of a human PCSK9 knock-in hypercholesterolemic mouse model, BMC Biol, 17, 4, 10.1186/s12915-018-0624-2
Komor, 2016, Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage, Nature, 533, 420, 10.1038/nature17946
Musunuru, 2021, In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates, Nature, 593, 429, 10.1038/s41586-021-03534-y
Ding, 2014, Permanent alteration of PCSK9 with in vivo CRISPR-Cas9 genome editing, Circ Res, 115, 488, 10.1161/CIRCRESAHA.115.304351
Wang, 2021, Long-term stable reduction of low-density lipoprotein in nonhuman primates following in vivo genome editing of PCSK9, Mol Ther, 29, 2019, 10.1016/j.ymthe.2021.02.020
Krittanawong, 2016, Practical pharmacogenomic approaches to heart failure therapeutics, Curr Treat Options Cardiovasc Med, 18, 60, 10.1007/s11936-016-0483-5
Blackston, 2020, Cardiovascular disease events and mortality after myocardial infarction among black and white adults: REGARDS study, Circ Cardiovasc Qual Outcomes, 13, 10.1161/CIRCOUTCOMES.120.006683