PCSK9 gene participates in the development of primary dyslipidemias

1Díaz-Aragón A, Fernández-Barros CL, Enciso-Muñoz JM, Ceballos-Reyes G, Gutiérrez-Salmeán G, León Hernández FJ, et al.e. Posicionamiento en torno al diag-nóstico y tratamiento de las dislipidemias. Rev Mex Cardiol. 2018; 29(3): 148-168.Díaz-Aragón A Fernández-Barros CL Enciso-Muñoz JM Ceballos-Reyes G Gutiérrez-Salmeán G León Hernández FJ et al e. Posicionamiento en torno al diag-nóstico y tratamiento de las dislipidemias Rev Mex Cardiol 2018 29 3 148 168Search in Google Scholar

2World Health Organization. Cardiovascular diseases (CVDs). [http://www.who.int/news-room/fact-sheets/detail/cardiovasculard-diseases-(cvds); accessed June 13 2020].World Health Organization Cardiovascular diseases (CVDs) http://www.who.int/news-room/fact-sheets/detail/cardiovasculard-diseases-(cvds); accessed June 13 2020Search in Google Scholar

3Barquera S, Pedroza-Tobías A, Medina C, Hernández-Barrera L, Bibbins-Domingo K, Lozano R, et al. Global overview of the epidemiology of atherosclerotic cardiovascular disease. Arch Med Res. 2015; 46(5): 328-338.Barquera S Pedroza-Tobías A Medina C Hernández-Barrera L Bibbins-Domingo K Lozano R et al Global overview of the epidemiology of atherosclerotic cardiovascular disease Arch Med Res 2015 46 5 328 33810.1016/j.arcmed.2015.06.00626135634Search in Google Scholar

4Nowbar AN, Gitto M, Howard JP, Francis DP, Al-Lamee R. Mortality from ischemic heart disease. Circ Cardiovasc Qual Outcomes. 2019; 12(6): e005375.Nowbar AN Gitto M Howard JP Francis DP Al-Lamee R Mortality from ischemic heart disease Circ Cardiovasc Qual Outcomes 2019 12 6 e00537510.1161/CIRCOUTCOMES.118.005375661371631163980Search in Google Scholar

5Martinez-Sanchez C, Borrayo G, Carrillo J, Juarez U, Quintanilla J, Jerjes-Sanchez C. Clinical management and hospital outcomes of acute coronary syndrome patients in Mexico: The Third National Registry of Acute Coronary Syndromes (RENASICA III). Arch Cardiol México. 2016; 86(3): 221-232.Martinez-Sanchez C Borrayo G Carrillo J Juarez U Quintanilla J Jerjes-Sanchez C Clinical management and hospital outcomes of acute coronary syndrome patients in Mexico: The Third National Registry of Acute Coronary Syndromes (RENASICA III) Arch Cardiol México 2016 86 3 221 23210.1016/j.acmx.2016.04.00727256475Search in Google Scholar

6Canalizo-Miranda E, Favela-Pérez EA, Salas-Anaya JA, Gómez-Díaz R, Jara-Espino R, Del L, et al. Guía de práctica clínica Diagnóstico y tratamiento de las dislipidemias. Rev Med Inst Mex Seguro Soc. 2013; 51(6): 700-709.Canalizo-Miranda E Favela-Pérez EA Salas-Anaya JA Gómez-Díaz R Jara-Espino R Del L et al Guía de práctica clínica Diagnóstico y tratamiento de las dislipidemias Rev Med Inst Mex Seguro Soc 2013 51 6 700 709Search in Google Scholar

7McEvoy JW, Whelton SP, Blumenthal RS. Dyslipidemia. In: Bakris GL, Sorrentino MJ, Editors. Hypertension: A Companion to Braunwald’s Heart Disease, 3rd ed. Chicago, IL, USA: Elsevier, 2018: 353-360.McEvoy JW Whelton SP Blumenthal RS Dyslipidemia In Bakris GL Sorrentino MJ Editors Hypertension: A Companion to Braunwald’s Heart Disease, 3rd ed Chicago, IL, USA Elsevier 2018 353–36010.1016/B978-0-323-42973-3.00038-XSearch in Google Scholar

8Urbina EM, Daniels SR. Hyperlipidemia. In: Slap GB, Editor. Adolescent Medicine. Philadelphia, PA, USA: Mosby, 2008: 90-96.Urbina EM Daniels SR Hyperlipidemia In Slap GB Editor. Adolescent Medicine Philadelphia, PA, USA Mosby 2008 90–9610.1016/B978-032304073-0.10014-7Search in Google Scholar

9Hurtubise J, McLellan K, Durr K, Onasanya O, Nwabuko D, Ndisang JF. The different facets of dyslipidemia and hypertension in atherosclerosis. Curr Atheroscler Rep. [Internet] 2016; 18(12): 82.Hurtubise J McLellan K Durr K Onasanya O Nwabuko D Ndisang JF The different facets of dyslipidemia and hypertension in atherosclerosis Curr Atheroscler Rep. [Internet] 2016 18 12 8210.1007/s11883-016-0632-z27822682Search in Google Scholar

10Matías-Pérez D, Pérez-Campos E, Antonio García-Montalvo I, Antonio I, Montalvo G. A genetic view of familial hypercholesterolemia. Nutr Hosp. 2015; 32(6): 2421-2426.Matías-Pérez D Pérez-Campos E Antonio García-Montalvo I Antonio I Montalvo G A genetic view of familial hypercholesterolemia Nutr Hosp 2015 32 6 2421 2426Search in Google Scholar

11Smith LC, Massey JB, Sparrow JT, Gotto AM, Pownall HJ. Structure and dynamics of human plasma lipoproteins. In: Bakris GL, Sorrentino MJ, Editors. Supramolecular Structure and Function. Boston, MA, USA: Springer US; 1983; 205-244.Smith LC Massey JB Sparrow JT Gotto AM Pownall HJ Structure and dynamics of human plasma lipoproteins In Bakris GL Sorrentino MJ Editors Supramolecular Structure and Function Boston, MA, USA Springer US; 1983 205–24410.1007/978-1-4684-4478-0_7Search in Google Scholar

12Barter PJ, Brewer HB, Chapman MJ, Hennekens CH, Rader DJ, Tall AR. Cholesteryl ester transfer protein. Arterioscler Thromb Vasc Biol. 2003; 23(2): 160-167.Barter PJ Brewer HB Chapman MJ Hennekens CH Rader DJ Tall AR Cholesteryl ester transfer protein Arterioscler Thromb Vasc Biol 2003 23 2 160 16710.1161/01.ATV.0000054658.91146.6412588754Search in Google Scholar

13Yamashita T, Lakota K, Taniguchi T, Yoshizaki A, Sato S, Hong W, et al. An orally-active adiponectin receptor agonist mitigates cutaneous fibrosis, inflammation and microvascular pathology in a murine model of systemic sclerosis. Sci Rep. 2018; 8(1): 11843.Yamashita T Lakota K Taniguchi T Yoshizaki A Sato S Hong W et al An orally-active adiponectin receptor agonist mitigates cutaneous fibrosis, inflammation and microvascular pathology in a murine model of systemic sclerosis Sci Rep 2018 8 1 1184310.1038/s41598-018-29901-w608138630087356Search in Google Scholar

14Huang Q, Qin L, Dai S, Zhang H, Pasula S, Zhou H, et al. AIP1 suppresses atherosclerosis by limiting hyperlipidemia-induced inflammation and vascular endothelial dysfunction. Arterioscler Thromb Vasc Biol. 2013; 33(4): 795-804.Huang Q Qin L Dai S Zhang H Pasula S Zhou H et al AIP1 suppresses atherosclerosis by limiting hyperlipidemia-induced inflammation and vascular endothelial dysfunction Arterioscler Thromb Vasc Biol 2013 33 4 795 80410.1161/ATVBAHA.113.301220363788523413429Search in Google Scholar

15Kuivenhoven JA, Hegele RA. Mining the genome for lipid genes. Biochim Biophys Acta. 2014; 1842(10): 1993-2009.Kuivenhoven JA Hegele RA Mining the genome for lipid genes Biochim Biophys Acta 2014 1842 10 1993 200910.1016/j.bbadis.2014.04.02824798233Search in Google Scholar

16Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, et al. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. Am J Hum Genet. 1999; 64(5): 1378-1387.Varret M Rabès JP Saint-Jore B Cenarro A Marinoni JC Civeira F et al A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32 Am J Hum Genet 1999 64 5 1378 138710.1086/302370137787410205269Search in Google Scholar

17Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: A systematic review and meta-analysis. BMJ Open. 2017; 7(9): e016461.Akioyamen LE Genest J Shan SD Reel RL Albaum JM Chu A et al Estimating the prevalence of heterozygous familial hypercholesterolaemia: A systematic review and meta-analysis BMJ Open 2017 7 9 e01646110.1136/bmjopen-2017-016461558898828864697Search in Google Scholar

18Nassoury N, Blasiole DA, Tebon Oler A, Benjannet S, Hamelin J, Poupon V, et al. The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR. Traffic. 2007; 8(6): 718-732.Nassoury N Blasiole DA Tebon Oler A Benjannet S Hamelin J Poupon V et al The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR Traffic 2007 8 6 718 73210.1111/j.1600-0854.2007.00562.x17461796Search in Google Scholar

19Luo Y, Warren L, Xia D, Jensen H, Sand T, Petras S, et al. Function and distribution of circulating human PCSK9 expressed extrahepatically in transgenic mice. J Lipid Res. 2009; 50(8): 1581-1588.Luo Y Warren L Xia D Jensen H Sand T Petras S et al Function and distribution of circulating human PCSK9 expressed extrahepatically in transgenic mice J Lipid Res 2009 50 8 1581 158810.1194/jlr.M800542-JLR200272404919060325Search in Google Scholar

20Dijk W, Le May C, Cariou B. Beyond LDL: What role for PCSK9 in triglyceride-rich lipoprotein metabolism? Trends Endocrinol Metab. 2018; 29(6): 420-434.Dijk W Le May C Cariou B Beyond LDL: What role for PCSK9 in triglyceride-rich lipoprotein metabolism? Trends Endocrinol Metab 2018 29 6 420 43410.1016/j.tem.2018.03.01329665987Search in Google Scholar

21Lalanne F, Lambert G, Amar MJA, Chétiveaux M, Zaïr Y, Jarnoux AL, et al. Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cells. J Lipid Res. 2005; 46(6): 1312-1319.Lalanne F Lambert G Amar MJA Chétiveaux M Zaïr Y Jarnoux AL et al Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cells J Lipid Res 2005 46 6 1312 131910.1194/jlr.M400396-JLR20015741654Search in Google Scholar

22Seidah NG, Benjannet S, Wickham L, Marcinkiewicz J, Bélanger Jasmin S, Stifani S, et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation. Proc Natl Acad Sci USA. 2003; 100(3): 928-933.Seidah NG Benjannet S Wickham L Marcinkiewicz J Bélanger Jasmin S Stifani S et al The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation Proc Natl Acad Sci USA 2003 100 3 928 93310.1073/pnas.033550710029870312552133Search in Google Scholar

23Gustafsen C, Kjolby M, Nyegaard M, Mattheisen M, Lundhede J, Buttenschøn H, et al. The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion. Cell Metab. 2014; 19(2): 310-318.Gustafsen C Kjolby M Nyegaard M Mattheisen M Lundhede J Buttenschøn H et al The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion Cell Metab 2014 19 2 310 31810.1016/j.cmet.2013.12.00624506872Search in Google Scholar

24Schmidt RJ, Beyer TP, Bensch WR, Qian YW, Lin A, Kowala M, 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(4): 634-640.Schmidt RJ Beyer TP Bensch WR Qian YW Lin A Kowala M 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 4 634 64010.1016/j.bbrc.2008.04.00418406350Search in Google Scholar

25Marian AJ. PCSK9 as a therapeutic target in atherosclerosis. Curr Atheroscler Rep. 2010; 12(3): 151-154.Marian AJ PCSK9 as a therapeutic target in atherosclerosis Curr Atheroscler Rep 2010 12 3 151 15410.1007/s11883-010-0099-220425252Search in Google Scholar

26Seidah NG. PCSK9 as a therapeutic target of dyslipidemia. Expert Opin Ther Targets. 2009; 13(1): 19-28.Seidah NG PCSK9 as a therapeutic target of dyslipidemia Expert Opin Ther Targets 2009 13 1 19 2810.1517/1472822080260071519063703Search in Google Scholar

27Sabatine MS. Proprotein convertase subtilisin/ kexin type 9 (PCSK9) inhibitors: Comparing and contrasting guidance across the Atlantic. Eur Heart J. 2017; 38(29): 2256-2258.Sabatine MS Proprotein convertase subtilisin/ kexin type 9 (PCSK9) inhibitors: Comparing and contrasting guidance across the Atlantic Eur Heart J 2017 38 29 2256 225810.1093/eurheartj/ehw57228110294Search in Google Scholar

28Li S, Zhang Y, Xu R-X, Guo Y-L, Zhu C-G, Wu N-Q, et al. Proprotein convertase subtilisin-kexin type 9 as a biomarker for the severity of coronary artery disease. Ann Med. 2015; 47(5): 386-393.Li S Zhang Y Xu R-X Guo Y-L Zhu C-G Wu N-Q et al Proprotein convertase subtilisin-kexin type 9 as a biomarker for the severity of coronary artery disease Ann Med 2015 47 5 386 39310.3109/07853890.2015.104290826153823Search in Google Scholar

29Alonso R, Mata P, Muñiz O, Fuentes-Jimenez F, Díaz JL, Zambón D, et al. PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia. Atherosclerosis. 2016; 254: 249-253.Alonso R Mata P Muñiz O Fuentes-Jimenez F Díaz JL, Zambón D et al PCSK9 and lipoprotein (a) levels are two predictors of coronary artery calcification in asymptomatic patients with familial hypercholesterolemia Atherosclerosis 2016 254 249 25310.1016/j.atherosclerosis.2016.08.03827594539Search in Google Scholar

30Kim JH. Letter: Serum levels of PCSK9 are associated with coronary angiographic severity in patients with acute coronary syndrome (Diabetes Metab J. 2018;42:207-14). Diabetes Metab J. 2018; 42(4): 348-349.Kim JH Letter: Serum levels of PCSK9 are associated with coronary angiographic severity in patients with acute coronary syndrome (Diabetes Metab J 2018;42:207-14). Diabetes Metab J 2018 42 4 348 34910.4093/dmj.2018.0135610735530136453Search in Google Scholar

31Tang Z, Li T, Peng J, Zheng J, Li T, Liu L, et al. PCSK9: A novel inflammation modulator in atherosclerosis? J Cell Physiol. 2019;234(3): 2345-2355.Tang Z Li T Peng J Zheng J Li T Liu L et al PCSK9: A novel inflammation modulator in atherosclerosis? J Cell Physiol 2019234 3 2345 235510.1002/jcp.2725430246446Search in Google Scholar

32Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, et al. Characterization of autosomal dominant hypercholesterolemia caused by PCSK9 cain of function mutations and its specific treatment with alirocumab, a PCSK9 monoclonal antibody. Circ Cardiovasc Genet. 2015; 8(6): 823-831.Hopkins PN Defesche J Fouchier SW Bruckert E Luc G Cariou B et al Characterization of autosomal dominant hypercholesterolemia caused by PCSK9 cain of function mutations and its specific treatment with alirocumab, a PCSK9 monoclonal antibody Circ Cardiovasc Genet 2015 8 6 823 83110.1161/CIRCGENETICS.115.001129509846626374825Search in Google Scholar

33Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005; 37(2): 161-165.Cohen J Pertsemlidis A Kotowski IK Graham R Garcia CK Hobbs HH Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9 Nat Genet 2005 37 2 161 16510.1038/ng150915654334Search in Google Scholar

34Miyake Y, Kimura R, Kokubo Y, Okayama A, Tomoike H, Yamamura T, et al. Genetic variants in PCSK9 in the Japanese population: Rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population. Atherosclerosis. 2008; 196(1): 29-36.Miyake Y Kimura R Kokubo Y Okayama A Tomoike H Yamamura T et al Genetic variants in PCSK9 in the Japanese population: Rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population Atherosclerosis 2008 196 1 29 3610.1016/j.atherosclerosis.2006.12.03517316651Search in Google Scholar

35Zhao Z, Tuakli-Wosornu Y, Lagace TA, Kinch L, Grishin NV, Horton JD, et al. Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet. 2006; 79(3): 514-523.Zhao Z Tuakli-Wosornu Y Lagace TA Kinch L Grishin NV Horton JD et al Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote Am J Hum Genet 2006 79 3 514 52310.1086/507488155953216909389Search in Google Scholar

36Abifadel M, Varret M, Rabès J-P, Allard D, Ouguerram K, Devillers M, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003; 34(2): 154-156.Abifadel M Varret M Rabès J-P Allard D Ouguerram K Devillers M et al Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Nat Genet 2003 34 2 154 15610.1038/ng116112730697Search in Google Scholar

37Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammalapati S, et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet. 2004; 114(4): 349-353.Timms KM Wagner S Samuels ME Forbey K Goldfine H Jammalapati S et al A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree Hum Genet 2004 114 4 349 35310.1007/s00439-003-1071-914727179Search in Google Scholar

38Hunt SC, Hopkins PN, Bulka K, McDermott MT, Thorne TL, Wardell BB, et al. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol. 2000; 20(4): 1089-1093.Hunt SC Hopkins PN Bulka K McDermott MT Thorne TL Wardell BB et al Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred Arterioscler Thromb Vasc Biol 2000 20 4 1089 109310.1161/01.ATV.20.4.108910764678Search in Google Scholar

39Leren TP. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet. 2004; (4): 419-422.Leren TP Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia Clin Genet 2004 4 419–42210.1111/j.0009-9163.2004.0238.x15099351Search in Google Scholar

40Sun XM, Eden ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP, et al. Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet. 2005; 14(9): 1161-1169.Sun XM Eden ER Tosi I Neuwirth CK Wile D Naoumova RP et al Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia Hum Mol Genet 2005 14 9 1161 116910.1093/hmg/ddi12815772090Search in Google Scholar

41Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK. Familial hypercholesterolaemia in Portugal. Atherosclerosis. 2008; 196(2): 633-642.Bourbon M Alves AC Medeiros AM Silva S Soutar AK Familial hypercholesterolaemia in Portugal Atherosclerosis 2008 196 2 633 64210.1016/j.atherosclerosis.2007.07.01917765246Search in Google Scholar

42Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, et al. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat. 2005; 26(5): 497.Allard D Amsellem S Abifadel M Trillard M Devillers M Luc G et al Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia Hum Mutat 2005 26 5 49710.1002/humu.938316211558Search in Google Scholar

43Homer VM, Marais AD, Charlton F, Laurie AD, Hurndell N, Scott R, et al. Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa. Atherosclerosis. 2008; 196(2): 659-666.Homer VM Marais AD Charlton F Laurie AD Hurndell N Scott R et al Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa Atherosclerosis 2008 196 2 659 66610.1016/j.atherosclerosis.2007.07.02217765244Search in Google Scholar

44Abifadel M, Rabès J-P, Devillers M, Munnich A, Erlich D, Junien C, et al. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat. 2009; 30(4): 520-529.Abifadel M Rabès J-P Devillers M Munnich A Erlich D Junien C et al Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease Hum Mutat 2009 30 4 520 52910.1002/humu.2088219191301Search in Google Scholar

45Iacocca MA, Wang J, Sarkar S, Dron JS, Lagace T, McIntyre AD, et al. Whole-gene duplication of PCSK9 as a novel genetic mechanism for severe familial hypercholesterolemia. Can J Cardiol. 2018; 34(10): 1316-1324.Iacocca MA Wang J Sarkar S Dron JS Lagace T McIntyre AD et al Whole-gene duplication of PCSK9 as a novel genetic mechanism for severe familial hypercholesterolemia Can J Cardiol 2018 34 10 1316 132410.1016/j.cjca.2018.07.479Search in Google Scholar

46Zambrano T, Hirata MH, Cerda Á, Dorea EL, Pinto GA, Gusukuma MC, et al. Impact of 3’UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: A pilot study. Int J Clin Exp Med. 2015; 8(4): 5978-5988.Zambrano T Hirata MH Cerda Á Dorea EL Pinto GA Gusukuma MC et al Impact of 3’UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: A pilot study Int J Clin Exp Med 2015 8 4 5978 5988Search in Google Scholar

47Robles-Osorio L, Huerta-Zepeda A, Ordóñez ML, Canizales-Quinteros S, Díaz-Villaseñor A, Gutiérrez-Aguilar R, et al. Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. Arch Med Res. 2006; 37(1): 102-108.Robles-Osorio L Huerta-Zepeda A Ordóñez ML Canizales-Quinteros S Díaz-Villaseñor A Gutiérrez-Aguilar R et al Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico Arch Med Res 2006 37 1 102 10810.1016/j.arcmed.2005.04.018Search in Google Scholar

48Mehta R, Zubirán R, Martagón AJ, Vazquez-Cárdenas A, Segura-Kato Y, Tusié-Luna MT, et al. The panorama of familial hypercholesterolemia in Latin America: A systematic review. J Lipid Res. 2016; 57(12): 2115-2129.Mehta R Zubirán R Martagón AJ Vazquez-Cárdenas A Segura-Kato Y Tusié-Luna MT et al The panorama of familial hypercholesterolemia in Latin America: A systematic review J Lipid Res 2016 57 12 2115 212910.1194/jlr.R072231Search in Google Scholar

49Garg A, Fazio S, Duell PB, Baass A, Udata C, Joh T, et al. Molecular characterization of familial hypercholesterolemia in a North American cohort. J Endocr Soc. 2020; 4(1): 1-16.Garg A Fazio S Duell PB Baass A Udata C Joh T et al Molecular characterization of familial hypercholesterolemia in a North American cohort J Endocr Soc 2020 4 1 1 1610.1210/jendso/bvz015Search in Google Scholar

50Sánchez-Hernández RM, Tugores A, Nóvoa FJ, Brito-Casillas Y, Expósito-Montesdeoca AB, Garay P, et al. The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia. J Clin Lipidol. 2019; 13(4): 618-626.Sánchez-Hernández RM Tugores A Nóvoa FJ Brito-Casillas Y Expósito-Montesdeoca AB Garay P et al The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia J Clin Lipidol 2019 13 4 618 62610.1016/j.jacl.2019.04.099Search in Google Scholar

51Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, et al. The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene. Hum Mutat. 2009;30(7): E682-E691.Abifadel M Rabès JP Jambart S Halaby G Gannagé-Yared MH Sarkis A et al The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene Hum Mutat 200930 7 E682 E69110.1002/humu.21002Search in Google Scholar

52Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, et al. LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a taiwanese population. J Formos Med Assoc. 2007; 106(10): 799-807.Yang KC Su YN Shew JY Yang KY Tseng WK Wu CC et al LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a taiwanese population J Formos Med Assoc 2007 106 10 799 80710.1016/S0929-6646(08)60044-3Search in Google Scholar

53Pisciotta L, Oliva CP, Cefalù AB, Noto D, Bel-locchio A, Fresa R, et al. Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. Atherosclerosis. 2006; 186(2): 433-440.Pisciotta L Oliva CP Cefalù AB Noto D Bel-locchio A Fresa R et al Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia Atherosclerosis 2006 186 2 433 44010.1016/j.atherosclerosis.2005.08.01516183066Search in Google Scholar

54Noguchi T, Katsuda S, Kawashiri M-A, Tada H, Nohara A, Inazu A, et al. The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. Atherosclerosis. 2010; 210(1): 166-172.Noguchi T Katsuda S Kawashiri M-A Tada H Nohara A Inazu A et al The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation Atherosclerosis 2010 210 1 166 17210.1016/j.atherosclerosis.2009.11.01820006333Search in Google Scholar

55Roche-Molina M, Sanz-Rosa D, Cruz FM, García-Prieto J, López S, Abia R, et al. Induction of sustained hypercholesterolemia by single adeno-associated virus-mediated gene transfer of mutant hPCSK9. Arterioscler Thromb Vasc Biol. 2015; 35(1): 50-59.Roche-Molina M Sanz-Rosa D Cruz FM García-Prieto J López S Abia R et al Induction of sustained hypercholesterolemia by single adeno-associated virus-mediated gene transfer of mutant hPCSK9 Arterioscler Thromb Vasc Biol 2015 35 1 50 5910.1161/ATVBAHA.114.30361725341796Search in Google Scholar

56Bjørklund MM, Hollensen AK, Hagensen MK, Dagnæs-Hansen F, Christoffersen C, Mikkelsen JG, et al. Induction of atherosclerosis in mice and hamsters without germline genetic engineering. Circ Res. 2014; 114(11): 1684-1689.Bjørklund MM Hollensen AK Hagensen MK Dagnæs-Hansen F Christoffersen C Mikkelsen JG et al Induction of atherosclerosis in mice and hamsters without germline genetic engineering Circ Res 2014 114 11 1684 168910.1161/CIRCRESAHA.114.30293724677271Search in Google Scholar

57Goettsch C, Hutcheson JD, Hagita S, Rogers MA, Creager MD, Pham T, et al. A single injection of gain-of-function mutant PCSK9 adeno-associated virus vector induces cardiovascular calcification in mice with no genetic modification. Atherosclerosis. 2016; 251: 109-118.Goettsch C Hutcheson JD Hagita S Rogers MA Creager MD Pham T et al A single injection of gain-of-function mutant PCSK9 adeno-associated virus vector induces cardiovascular calcification in mice with no genetic modification Atherosclerosis 2016 251 109 11810.1016/j.atherosclerosis.2016.06.011498324627318830Search in Google Scholar

58Denis M, Marcinkiewicz J, Zaid A, Gauthier D, Poirier S, Lazure C, et al. Gene inactivation of proprotein convertase subtilisin/kexin type 9 reduces atherosclerosis in mice. Circulation. 2012; 125(7): 894-901.Denis M Marcinkiewicz J Zaid A Gauthier D Poirier S Lazure C et al Gene inactivation of proprotein convertase subtilisin/kexin type 9 reduces atherosclerosis in mice Circulation 2012 125 7 894 90110.1161/CIRCULATIONAHA.111.05740622261195Search in Google Scholar

59Al-Mashhadi RH, Sørensen CB, Kragh PM, Christoffersen C, Mortensen MB, Tolbod LP, et al. Familial hypercholesterolemia and atherosclerosis in cloned minipigs created by DNA transposition of a human PCSK9 gain-of-function mutant. Sci Transl Med. 2013; 5(166): 1-10.Al-Mashhadi RH Sørensen CB Kragh PM Christoffersen C Mortensen MB Tolbod LP et al Familial hypercholesterolemia and atherosclerosis in cloned minipigs created by DNA transposition of a human PCSK9 gain-of-function mutant Sci Transl Med 2013 5 166 1 1010.1126/scitranslmed.300485323283366Search in Google Scholar

60Hedayat AF, Park K-H, Kwon T-G, Woollard JR, Jiang K, Carlson DF, et al. Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model. Transl Res. 2018; 192: 30-45.Hedayat AF Park K-H Kwon T-G Woollard JR Jiang K Carlson DF et al Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model Transl Res 2018 192 30 4510.1016/j.trsl.2017.10.007581134329175268Search in Google Scholar

61Miller M, Kwiterovich PO. Isolated low HDL-cholesterol as an important risk factor for coronary heart disease. Eur Heart J. 1990; 11(suppl H): 9-14.Miller M Kwiterovich PO Isolated low HDL-cholesterol as an important risk factor for coronary heart disease Eur Heart J 1990 11 suppl H 9 1410.1093/eurheartj/11.suppl_H.92073916Search in Google Scholar

62Puntoni M, Sbrana F, Bigazzi F, Sampietro T. Tangier disease: Epidemiology, pathophysiology, and management. Am J Cardiovasc Drugs. 2012; 12(5): 303-311.Puntoni M Sbrana F Bigazzi F Sampietro T Tangier disease: Epidemiology, pathophysiology, and management Am J Cardiovasc Drugs 2012 12 5 303 31110.1007/BF03261839Search in Google Scholar

63Savel J, Lafitte M, Pucheu Y, Pradeau V, Tabarin A, Couffinhal T. Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency. Vasc Health Risk Manag. 2012; 8: 357-361.Savel J Lafitte M Pucheu Y Pradeau V Tabarin A Couffinhal T Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency Vasc Health Risk Manag 2012 8 357 36110.2147/VHRM.S29985337331622701329Search in Google Scholar

64Yuan F, Guo L, Park KH, Woollard JR, Taek-Geun K, Jiang K, et al. Ossabaw pigs with a PCSK9 fain-of-function mutation develop accelerated coronary atherosclerotic lesions: A novel model for preclinical studies. J Am Heart Assoc. 2018; 7(6): e006207.Yuan F Guo L Park KH Woollard JR Taek-Geun K Jiang K et al Ossabaw pigs with a PCSK9 fain-of-function mutation develop accelerated coronary atherosclerotic lesions: A novel model for preclinical studies J Am Heart Assoc 2018 7 6 e00620710.1161/JAHA.117.006207590753329572319Search in Google Scholar

65Duff CJ, Hooper NM. PCSK9: An emerging target for treatment of hypercholesterolemia. Expert Opin Ther Targets. 2011; 15(2): 157-168.Duff CJ Hooper NM PCSK9: An emerging target for treatment of hypercholesterolemia Expert Opin Ther Targets 2011 15 2 157 16810.1517/14728222.2011.54748021204732Search in Google Scholar

66Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA. 1989; 86(2): 587-591.Soria LF Ludwig EH Clarke HR Vega GL Grundy SM McCarthy BJ Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100 Proc Natl Acad Sci USA 1989 86 2 587 59110.1073/pnas.86.2.587Search in Google Scholar

67Myant NB. Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis. 1993; 104(12): 1-18.Myant NB Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolaemia Atherosclerosis 1993 104 12 1 1810.1016/0021-9150(93)90171-PSearch in Google Scholar

68Dugaiczyk A, Haron JA, Stone EM, Dennison OE, Rothblum KN, Schwartz RJ. Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle. Biochemistry. 1983; 22(7): 1605-1613.Dugaiczyk A Haron JA Stone EM Dennison OE Rothblum KN Schwartz RJ Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle Biochemistry 1983 22 7 1605 161310.1021/bi00276a0136303388Search in Google Scholar

69Eden ER, Naoumova RP, Burden JJ, McCarthy MI, Soutar AK. Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. Am J Hum Genet. 200; 68(3): 653-660.Eden ER Naoumova RP Burden JJ McCarthy MI Soutar AK Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families Am J Hum Genet 200 68 3 653 66010.1086/318795127447811179013Search in Google Scholar

70Soutar AK, Naoumova RP, Traub LM. Genetics, clinical phenotype, and molecular cell biology of auto-somal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2003; 23(11): 1963-1970.Soutar AK Naoumova RP Traub LM Genetics, clinical phenotype, and molecular cell biology of auto-somal recessive hypercholesterolemia Arterioscler Thromb Vasc Biol 2003 23 11 1963 197010.1161/01.ATV.0000094410.66558.9A12958046Search in Google Scholar

71Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A, Ordóñez-Sánchez ML, Rodríguez-Torres M, Venturas-Gallegos JL, et al. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. Hum Genet. 2005; 116(1-2): 114-120.Canizales-Quinteros S Aguilar-Salinas CA Huertas-Vázquez A Ordóñez-Sánchez ML Rodríguez-Torres M Venturas-Gallegos JL et al A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia Hum Genet 2005 116 1-2 114 12010.1007/s00439-004-1192-915599766Search in Google Scholar

72Harada K, Miyamoto Y, Morisaki H, Ohta N, Yamanaka I, Kokubo Y, et al. A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia. J Atheroscler Thromb. 2010; 17(2): 131-140.Harada K Miyamoto Y Morisaki H Ohta N Yamanaka I Kokubo Y et al A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia J Atheroscler Thromb 2010 17 2 131 14010.5551/jat.287320124734Search in Google Scholar

73Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, et al. APOE p.Leu167del mutation in familial hypercholesterolemia. Atherosclerosis. 2013; 231(2): 218-222.Awan Z Choi HY Stitziel N Ruel I Bamimore MA Husa R et al APOE p.Leu167del mutation in familial hypercholesterolemia Atherosclerosis 2013 231 2 218 22210.1016/j.atherosclerosis.2013.09.00724267230Search in Google Scholar

74Sharifi M, Futema M, Nair D, Humphries SE. Polygenic hypercholesterolemia and cardiovascular disease risk. Curr Cardiol Rep. 2019; 21(6): 43.Sharifi M Futema M Nair D Humphries SE Polygenic hypercholesterolemia and cardiovascular disease risk Curr Cardiol Rep 2019 21 6 4310.1007/s11886-019-1130-z647700431011892Search in Google Scholar

75Stoll M, Dell’Oca N. Genética de la hipercolesterolemia familiar. Rev Urug Cardiol. 2019; 34(3): 324-332.Stoll M Dell’Oca N Genética de la hipercolesterolemia familiar Rev Urug Cardiol 2019 34 3 324 332Search in Google Scholar

76Bourbon M, Alves AC, Sijbrands EJ. Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia. Curr Opin Lipidol. 2017; 8(2): 120-129.Bourbon M Alves AC Sijbrands EJ Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia Curr Opin Lipidol 2017 8 2 120 12910.1097/MOL.000000000000040428169869Search in Google Scholar

77Graham CA, McIlhatton BP, Kirk CW, Beattie ED, Lyttle K, Hart P, et al. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis. 2005; 182(2): 331-340.Graham CA McIlhatton BP Kirk CW Beattie ED Lyttle K Hart P et al Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate Atherosclerosis 2005 182 2 331 34010.1016/j.atherosclerosis.2005.02.016Search in Google Scholar

78Nose D, Hori M, Miyamoto Y, Imaizumi S, Harada-Shiba M, Saku K, et al. Discontinuation of LDL apheresis with evolocumab in an FH patient with a duplication of exon 2-6 in the LDLR gene. J Cardiol Cases. 2019; 19(2): 55-58.Nose D Hori M Miyamoto Y Imaizumi S Harada-Shiba M Saku K et al Discontinuation of LDL apheresis with evolocumab in an FH patient with a duplication of exon 2-6 in the LDLR gene J Cardiol Cases 2019 19 2 55 5810.1016/j.jccase.2018.10.005Search in Google Scholar

79Cheng S, Wu Y, Wen W, An M, Gao Y, Wang L, et al. Independent severe cases of heterozygous familial hypercholesterolemia caused by the W483X and novel W483G mutations in the low-density lipoprotein receptor gene that were clinically diagnosed as homozygous cases. Genet Test Mol Biomarkers. 2019; 23(6): 401-408.Cheng S Wu Y Wen W An M Gao Y Wang L et al Independent severe cases of heterozygous familial hypercholesterolemia caused by the W483X and novel W483G mutations in the low-density lipoprotein receptor gene that were clinically diagnosed as homozygous cases Genet Test Mol Biomarkers 2019 23 6 401 40810.1089/gtmb.2019.0012Search in Google Scholar

80Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in Coronary Heart Disease II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973; 52(7): 1544-1568.Goldstein JL Schrott HG Hazzard WR Bierman EL Motulsky AG Hyperlipidemia in Coronary Heart Disease II Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 1973 52 7 1544 156810.1172/JCI107332Search in Google Scholar

81Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000; 290(5497): 1771-1775.Berge KE Tian H Graf GA Yu L Grishin NV Schultz J et al Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters Science 2000 290 5497 1771 177510.1126/science.290.5497.1771Search in Google Scholar

82Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet. 2010; 19(22): 4313-4318.Rios J Stein E Shendure J Hobbs HH Cohen JC Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia Hum Mol Genet 2010 19 22 4313 431810.1093/hmg/ddq352Search in Google Scholar

83Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001; 27(1): 79-83.Lee MH Lu K Hazard S Yu H Shulenin S Hidaka H et al Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption Nat Genet 2001 27 1 79 8310.1038/83799Search in Google Scholar

84Soumian S, Albrecht C, Davies AH, Gibbs RG. ABCA1 and atherosclerosis. Vasc Med. 2005; 10(2): 109-119.Soumian S Albrecht C Davies AH Gibbs RG ABCA1 and atherosclerosis Vasc Med 2005 10 2 109 11910.1191/1358863x05vm593raSearch in Google Scholar

85Olson MV. Human genetic individuality. Annu Rev Genomics Hum Genet. 2012; 13: 1-27.Olson MV Human genetic individuality Annu Rev Genomics Hum Genet 2012 13 1 2710.1146/annurev-genom-090711-163825Search in Google Scholar

86Ho Hong S, Rhyne J, Zeller K, Miller M. Novel ABCA1 compound variant associated with HDL cholesterol deficiency. Biochim Biophys Acta. 2002; 1587(1): 60-64.Ho Hong S Rhyne J Zeller K Miller M Novel ABCA1 compound variant associated with HDL cholesterol deficiency Biochim Biophys Acta 2002 1587 1 60 6410.1016/S0925-4439(02)00066-2Search in Google Scholar

87Ahmadzadeh A, Azizi F. Genes Associated with low serum high-density lipoprotein cholesterol. Arch Iran Med. 2014; 17(6): 444-450.Ahmadzadeh A Azizi F Genes Associated with low serum high-density lipoprotein cholesterol Arch Iran Med 2014 17 6 444 450Search in Google Scholar

88Sabatine MS. PCSK9 inhibitors: Clinical evidence and implementation. Nat Rev Cardiol. 2019; 16(3): 155-165.Sabatine MS PCSK9 inhibitors: Clinical evidence and implementation Nat Rev Cardiol 2019 16 3 155 16510.1038/s41569-018-0107-830420622Search in Google Scholar