References
- WHO. Noncommunicable diseases country profiles 2011. WHO Library Cataloguing-in-Publication Data; 2011.
- Paththinige CS, Sirisena ND, Dissanayake V. Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Lipids Health Dis. 2017;16:103.
- Bhatnagar D, Soran H, Durrington PN. Hypercholesterolaemia and its management. BMJ. 2008;337:a993.
- Santini A, Novellino E. Nutraceuticals in hypercholesterolaemia: an overview. Br J Pharmacol. 2017;174:1450–1463.
- Nanchen D, Gencer B, Auer R, et al. Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes. Eur Heart J. 2015;36:2438–2445.
- Benn M, Watts GF, Tybjaerg-Hansen A, et al. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen general population study estimated a prevalence of 1 in 217. Eur Heart J. 2016;37:1384–1394.
- Swerdlow DI, Humphries SE. Genetics of CHD in 2016: common and rare genetic variants and risk of CHD. Nature Rev Cardiol. 2017;14:73–74.
- Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35:2146–2157.
- Ornish D, Scherwitz LW, Billings JH, et al. Intensive lifestyle changes for reversal of coronary heart disease. JAMA. 1998;280:2001–2007.
- Momtazi AA, Banach M, Pirro M, et al. MicroRNAs: new therapeutic targets for familial hypercholesterolemia? Clin Rev Allergy Immunol. 2018;54:224–233.
- Gholamin S, Pasdar A, Sadegh Khorrami M, et al. The potential for circulating microRNAs in the diagnosis of myocardial infarction: a novel approach to disease diagnosis and treatment. Curr Pharm Design. 2016;22:397–403.
- Yamanashi Y, Takada T, Suzuki H. Bile acid as therapeutic agents. In: Tazuma S, Takikawa H, editors. Bile acids in gastroenterology. Tokyo: Springer; 2017. p. 61–90.
- Li T, Chiang JY. Bile acids as metabolic regulators. Curr Opin Gastroenterol. 2015;31:159.
- Fiorucci S, Mencarelli A, Palladino G, et al. Bile-acid-activated receptors: targeting TGR5 and farnesoid-X-receptor in lipid and glucose disorders. Trends Pharmacol Sci. 2009;30:570–580.
- Chiang JY. Bile acids: regulation of synthesis. J Lipid Res. 2009;50:1955–1966.
- Spinelli V, Chávez-Talavera O, Tailleux A, et al. Metabolic effects of bile acid sequestration: impact on cardiovascular risk factors. Curr Opin Endocrinol Diabetes Obes. 2016;23:138–144.
- Chang Y, Robidoux J. Dyslipidemia management update. Curr Opin Pharmacol. 2017;33:47–55.
- Hofmann AF. The enterohepatic circulation of bile acids in mammals: form and functions. Front Biosci. 2009;14:2584–2598.
- Maron DJ, Fazio S, Linton MF. Current perspectives on statins. Circulation. 2000;101:207–213.
- Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science. 1986;232:34–47.
- Sehayek E, Butbul E, Avner R, et al. Enhanced cellular metabolism of very low density lipoprotein by simvastatin. A novel mechanism of action of HMG-CoA reductase inhibitors. Eur J Clin Invest. 1994;24:173–178.
- Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007;40:575–584.
- Baigent C, Blackwell L, Emberson J, et al. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet. 2010;376:1670–1681.
- Sadowitz B, Maier KG, Gahtan V. Basic science review: statin therapy – Part I: the pleiotropic effects of statins in cardiovascular disease. Vasc Endovascular Surg. 2010;44:241–251.
- Fadini GP, Manzato E, Crepaldi C, et al. Two cases of statin-induced rhabdomyolysis associated with mononeuropathy. Clin Drug Invest. 2010;30:347–350.
- Hippisley-Cox J, Coupland C. Individualising the risks of statins in men and women in England and Wales: population-based cohort study. Heart. 2010;96:939–947.
- Postmus I, Verschuren JJ, De Craen AJ, et al. Pharmacogenetics of statins: achievements, whole-genome analyses and future perspectives. Pharmacogenomics. 2012;13:831–840.
- Mangravite L, Thorn C, Krauss R. Clinical implications of pharmacogenomics of statin treatment. Pharmacogenomics J. 2006;6:360.
- Kajinami K, Takekoshi N, Brousseau ME, et al. Pharmacogenetics of HMG-CoA reductase inhibitors: exploring the potential for genotype-based individualization of coronary heart disease management. Atherosclerosis. 2004;177:219–234.
- Thompson J, Man M, Johnson K, et al. An association study of 43 SNPs in 16 candidate genes with atorvastatin response. Pharmacogenomics J. 2005;5:352.
- Ruano G, Thompson PD, Windemuth A, et al. Physiogenomic association of statin-related myalgia to serotonin receptors. Muscle Nerve. 2007;36:329–335.
- Cannon CP, Blazing MA, Giugliano RP, et al. Ezetimibe added to statin therapy after acute coronary syndromes. N Engl J Med. 2015;372:2387–2397.
- Kotseva K, Wood D, De Bacquer D, et al. EUROASPIRE IV: a European society of cardiology survey on the lifestyle, risk factor and therapeutic management of coronary patients from 24 European countries. Eur J Prev Cardiolog. 2016;23:636–648.
- Stone NJ, Robinson J, Lichtenstein AH, et al. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults. J Am Coll Cardiol. 2014;63:2889–2934.
- Kruit JK, Groen AK, van BTJ, et al. Emerging roles of the intestine in control of cholesterol metabolism. World J Gastroenterol. 2006;12:6429.
- Van der Velde AE, Brufau G, Groen AK. Transintestinal cholesterol efflux. Curr Opin Lipidol. 2010;21:167–171.
- Temel RE, Sawyer JK, Yu L, et al. Biliary sterol secretion is not required for macrophage reverse cholesterol transport. Cell Metab. 2010;12:96–102.
- Davies JP, Levy B, Ioannou YA. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1. Genomics. 2000;65:137–145.
- Altmann SW, Davis HR, Zhu L-J, et al. Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 2004;303:1201–1204.
- García-García AB, González C, Real JT, et al. Influence of microsomal triglyceride transfer protein promoter polymorphism −493 GT on fasting plasma triglyceride values interaction with treatment response to atorvastatin in subjects with heterozygous familial hypercholesterolaemia. Pharmacogenet Genom. 2005;15:211–218.
- Hawes BE, O’Neill KA, Yao X, et al. In vivo responsiveness to ezetimibe correlates with niemann-pick C1 like-1 (NPC1L1) binding affinity: comparison of multiple species NPC1L1 orthologs. Mol Pharmacol. 2007;71:19–29.
- Xie C, Zhou Z-S, Li N, et al. Ezetimibe blocks the internalization of NPC1L1 and cholesterol in mouse small intestine. J Lipid Res. 2012;53:2092.
- Weinglass AB, Kohler M, Schulte U, et al. Extracellular loop C of NPC1L1 is important for binding to ezetimibe. Proc Nat Acad Sci. 2008;105:11140–11145.
- Chang DK, Grimmond SM, Evans TJ, et al. Mining the genomes of exceptional responders. Nat Rev Cancer. 2014;14:291.
- Ferreira AM, da Silva PM. Defining the place of ezetimibe/atorvastatin in the management of hyperlipidemia. Am J Cardiovasc Drugs. 2017;17:169–181.
- Catapano A, Toth PP, Tomassini JE, et al. The efficacy and safety of ezetimibe coadministered with statin therapy in various patient groups. Clin Lipidol. 2013;8:13–41.
- Rossebø AB, Pedersen TR, Boman K, et al. Intensive lipid lowering with simvastatin and ezetimibe in aortic stenosis. N Engl J Med. 2008;359:1343–1356.
- Baigent C, Landray MJ, Reith C, et al. The effects of lowering LDL cholesterol with simvastatin plus ezetimibe in patients with chronic kidney disease (Study of Heart and Renal Protection): a randomised placebo-controlled trial. Lancet. 2011;377:2181–2192.
- Schmidt RJ, Beyer TP, Bensch WR, et al. Secreted proprotein convertase subtilisin/kexin type 9 reduces both hepatic and extrahepatic low-density lipoprotein receptors in vivo. Biochem Biophys Res Commun. 2008;370:634–640.
- Varret M, Abifadel M, Rabès JP, et al. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet. 2008;73:1–13.
- Kwon HJ, Lagace TA, McNutt MC, et al. Molecular basis for LDL receptor recognition by PCSK9. Proc Nat Acad Sci. 2008;105:1820–1825.
- Maxwell KN, Fisher EA, Breslow JL. Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment. Proc Nat Acad Sci. 2005;102:2069–2074.
- Park SW, Moon Y-A, Horton JD. Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver. J Biol Chem. 2004;279:50630–50638.
- Cohen JC, Boerwinkle E, Mosley TH Jr, et al. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354:1264–1272.
- Cohen J, Pertsemlidis A, Kotowski IK, et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005;37:161.
- Stein EA. PCSK9: the critical role of familial hypercholesterolemia from discovery to benefit for all: editorial to: “Efficacy and safety of alirocumab in patients with heterozygous familial hypercholesterolemia and LDL-C of 160 mg/Dl or higher” by Henry N. Ginsberg et al. Cardiovasc Drugs Ther. 2016;30:427–431.
- Sabatine MS, Giugliano RP, Keech AC, et al. Evolocumab and clinical outcomes in patients with cardiovascular disease. N Engl J Med. 2017;2017:1713–1722.
- White CM. Therapeutic potential and critical analysis of the PCSK9 monoclonal antibodies evolocumab and alirocumab. Ann Pharmacother. 2015;49:1327–1335.
- Farnier M. An evaluation of alirocumab for the treatment of hypercholesterolemia. Expert Rev Cardiovasc Ther. 2015;13:1307–1323.
- Langslet G, Emery M, Wasserman SM. Evolocumab (AMG 145) for primary hypercholesterolemia. Expert Rev Cardiovasc Ther. 2015;13:477–488.
- Giugliano RP, Mach F, Zavitz K, et al. Cognitive function in a randomized trial of evolocumab. N Engl J Med. 2017;377:633–643.
- Rader DJ, Kastelein JJ. Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia. Circulation. 2014;129:1022–1032.
- Romeo S, Yin W, Kozlitina J, et al. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest. 2009;119:70–79.
- Graham MJ, Lee RG, Brandt TA, et al. Cardiovascular and metabolic effects of ANGPTL3 antisense oligonucleotides. N Engl J Med. 2017;377:222–232.
- Dewey FE, Gusarova V, Dunbar RL, et al. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease. N Engl J Med. 2017;377:211–221.
- Gaudet D, Gipe DA, Pordy R, et al. ANGPTL3 inhibition in homozygous familial hypercholesterolemia. N Engl J Med. 2017;377:296–297.
- Ray KK, Landmesser U, Leiter LA, et al. siRNA to PCSK9 in patients with high cardiovascular risk and elevated LDL-C: the ORION 1 trial. Atherosclerosis. 2017;263:e9–e10.
- Dávalos A, Fernández-Hernando C. From evolution to revolution: miRNAs as pharmacological targets for modulating cholesterol efflux and reverse cholesterol transport. Pharmacol Res. 2013;75:60–72.
- Bartel DP. MicroRNAs: target recognition and regulatory functions. Cell. 2009;136:215–233.
- Agarwal V, Bell GW, Nam J-W, et al. Predicting effective microRNA target sites in mammalian mRNAs. eLife. 2015;4:e05005.
- Soh J, Hussain MM. Supplementary site interactions are critical for the regulation of microsomal triglyceride transfer protein by microRNA-30c. Nutr Metab. 2013;10:56.
- Hsu S-H, Wang B, Kota J, et al. Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver. J Clin Invest. 2012;122:2871.
- Zhang X-L, Zhu Q-Q, Zhu L, et al. Safety and efficacy of anti-PCSK9 antibodies: a meta-analysis of 25 randomized, controlled trials. BMC Med. 2015;13:123.
- Alvarez ML, Khosroheidari M, Eddy E, et al. MicroRNA-27a decreases the level and efficiency of the LDL receptor and contributes to the dysregulation of cholesterol homeostasis. Atherosclerosis. 2015;242:595–604.
- Goedeke L, Rotllan N, Ramírez CM, et al. miR-27b inhibits LDLR and ABCA1 expression but does not influence plasma and hepatic lipid levels in mice. Atherosclerosis. 2015;243:499–509.
- Sun L, Trajkovski M. MiR-27 orchestrates the transcriptional regulation of brown adipogenesis. Metab Clin Exp. 2014;63:272–282.
- Lin Q, Gao Z, Alarcon RM, et al. A role of miR-27 in the regulation of adipogenesis. FEBS J. 2009;276:2348–2358.
- Noyan-Ashraf MH, Shikatani EA, Schuiki I, et al. A glucagon-like peptide-1 analog reverses the molecular pathology and cardiac dysfunction of a mouse model of obesity. Circulation. 2013;127:74–85.
- Li Y, Zhang J, He J, et al. MicroRNA-132 cause apoptosis of glioma cells through blockade of the SREBP-1c metabolic pathway related to SIRT1. Biomed Pharmacother. 2016;78:177–184.
- Zhang H, Feng Z, Huang R, et al. MicroRNA-449 suppresses proliferation of hepatoma cell lines through blockade lipid metabolic pathway related to SIRT1. Int J Oncol. 2014;45:2143–2152.
- Li X, Chen Y-T, Josson S, et al. MicroRNA-185 and 342 inhibit tumorigenicity and induce apoptosis through blockade of the SREBP metabolic pathway in prostate cancer cells. PloS One. 2013;8:e70987.
- Gupta N, Fisker N, Asselin MC, et al. A locked nucleic acid antisense oligonucleotide (LNA) silences PCSK9 and enhances LDLR expression in vitro and in vivo. PloS One. 2010;5:e10682.
- Yamamoto T, Harada-Shiba M, Nakatani M, et al. Cholesterol-lowering action of BNA-based antisense oligonucleotides targeting PCSK9 in atherogenic diet-induced hypercholesterolemic mice. Mol Ther Nucleic Acids. 2012;1:e22.
- Norata GD, Tibolla G, Catapano AL. Targeting PCSK9 for hypercholesterolemia. Annu Rev Pharmacol Toxicol. 2014;54:273–293.
- Fitzgerald K, Frank-Kamenetsky M, Shulga-Morskaya S, et al. Effect of an RNA interference drug on the synthesis of proprotein convertase subtilisin/kexin type 9 (PCSK9) and the concentration of serum LDL cholesterol in healthy volunteers: a randomised, single-blind, placebo-controlled, phase 1 trial. Lancet. 2014;383:60–68.
- Bobbin ML, Rossi JJ. RNA interference (RNAi)-based therapeutics: delivering on the promise? Annu Rev Pharmacol Toxicol. 2016;56:103–122.
- Ray KK, Landmesser U, Leiter LA, et al. Inclisiran in patients at high cardiovascular risk with elevated LDL cholesterol. N Engl J Med. 2017;376:1430–1440.
- Iughetti L, Bruzzi P, Predieri B. Evaluation and management of hyperlipidemia in children and adolescents. Curr Opin Pediatr. 2010;22:485–493.
- McMahan CA, Gidding SS, Fayad ZA, et al. Risk scores predict atherosclerotic lesions in young people. Arch Intern Med. 2005;165:883–890.
- Hopkins PN, Toth PP, Ballantyne CM, et al. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5:S9–S17.
- Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5:133–140.
- Lughetti L, Predieri B, Balli F, et al. Rational approach to the treatment for heterozygous familial hypercholesterolemia in childhood and adolescence: a review. J Endocrinol Invest. 2007;30:700–719.
- Bellunghi MS, Miname M, Jannes CE, et al. Familial hypercholesterolemia in children and safety of early lipid-lowering treatment. Circulation. 2017;136:A14877.
- Saltijeral A, de Isla LP, Alonso R, et al. Attainment of LDL cholesterol treatment goals in children and adolescents with familial hypercholesterolemia. The SAFEHEART Follow-up Registry. Rev Esp Cardiol (English Edition). 2017;70:444–450.
- Civeira F, Plana N. Treatment of heterozygous familial hypercholesterolemia in children and adolescents: an unsolved problem. Rev Esp Cardiol. 2017;70:423–424.
- Paragh G, Karádi I. Up to date lipid lowering treatment. Orv Hetil. 2016;157:1219–1223.
- Paynter NP, Ridker PM, Chasman DI. Are genetic tests for atherosclerosis ready for routine clinical use? Circ Res. 2016;118:607–619.