Effect of E670G polymorphism in PCSK9 gene on the risk and severity of coronary heart disease and ischemic stroke in a Tunisian cohort

Journal of Molecular Neuroscience

Volumn 53, Issue 2, 2014, Pages 150-157

  Slimani, Afef ^a   Harira, Yahia ^b   Trabelsi, Imen ^a   Jomaa, Walid ^c   Maatouk, Faouzi ^c   Hamda, Khaldoun Ben ^c   Slimane, Mohamed Naceur ^a  

^a UNIVERSITY OF MONASTIR   (Tunisia)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

Coronary artery disease; E670G polymorphism; PCSK9 gene

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; AGED; ARTICLE; BRAIN ISCHEMIA; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; PCSK9 GENE; PLASMA; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TUNISIA; BLOOD; CASE CONTROL STUDY; CORONARY ARTERY DISEASE; GENETICS; HOMOZYGOTE; MIDDLE AGED; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE;

AGED; BRAIN ISCHEMIA; CASE-CONTROL STUDIES; CHOLESTEROL, LDL; CORONARY ARTERY DISEASE; FEMALE; GENE FREQUENCY; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPROTEIN CONVERTASES; RISK FACTORS; SERINE ENDOPEPTIDASES; STROKE; TUNISIA;

EID: 84901452665     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-014-0238-2     Document Type: Article

References (45)

1. Abboud S, Karhunen PJ, Lütjohann D, Goebeler S, Luoto T, Friedrichs S et al (2007) Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke. PLoS ONE 2:e1043
2. Abdel-Maksoud MF, Eckel RH, Hamman RF, Hokanson JE (2012) Risk of coronary heart disease is associated with triglycerides and high-density lipoprotein cholesterol in women and non-high-density lipoprotein cholesterol in men. J Clin Lipidol 6:374-381
3. Abifadel M, Rabes JP, Boileau C, Varret M (2007) After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9. Ann Endocrinol (Paris) 68:138-46 (Pubitemid 47241113)
4. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M et al (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 34:154-6 (Pubitemid 36666925)
5. Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C et al (2009) Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat 30:520-9
6. Aung LH, Yin RX, Miao L, Hu XJ, Yan TT, Cao XL et al (2011) The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis 10:5
7. Belanger Jasmin S (2011). A putative role for PCSK9 in synaptic remodelling and plasticity in response to brain injury: implications for Alzheimer's disease. McGill University (http://digitool.library.mcgill.ca/ webclient/StreamGate?folder-id=0&dvs=1352716244239~284) 59-83
8. Benjannet S, Rhainds D, Essalmani R, Mayne J, Wickham L, Jin Wet al (2004) NARC- 1/PCSK9 and its naturalmutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. J Biol Chem 279:48865-75 (Pubitemid 39625767)
9. Chan DC, Watts GF (2012) Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box. Metabolism 61:3-11
10. Chen SN, Ballantyne CM, Gotto AM Jr, Tan Y, Willerson JT, Marian AJ (2005) A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low density lipoprotein cholesterol levels and severity of coronary atherosclerosis. J Am Coll Cardiol 45:1611-9 (Pubitemid 40704495)
11. Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37:161-5
12. Costet P, Cariou B, Lambert G, Lalanne F, Lardeux B, Jarnoux AL et al (2006) Hepatic PCSK9 expression is regulated by nutritional status via insulin and sterol regulatory element-binding protein 1c. J Biol Chem 281:6211-8 (Pubitemid 43847551)
13. Cunningham D, Danley DE, Geoghegan KF, Griffor MC, Hawkins JL, Subashi TA et al (2007) Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. Nat Struct Mol Biol 14:413-419 (Pubitemid 46685885)
14. Evans D, Beil FU (2006) The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women. BMC Med Genet 31:66
15. Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (2003) Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 26:S5-S20
16. Ferri N, Tibolla G, Pirillo A, Cipollone F, Mezzetti A, Pacia S et al (2012) Proprotein convertase subtilisin kexin type 9 (PCSK9) secreted by cultured smooth muscle cells reduces macrophages LDLR levels. Atherosclerosis 220:381-386
17. Friedewald WT, Levy RI, Fredrickson DS (1972) Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chemistry 6:499-502
18. Gotto AM Jr, Moon JE (2012) Management of cardiovascular risk. The importance ofmeeting lipid targets. Am J Cardiol 110(1 Suppl):3A-14A
19. Hampton EN, Knuth MW, Li J, Harris JL, Lesley SA, Spraggon G (2007) The self-inhibited structure of full-length PCSK9 at 1.9 a reveals structural homology with resistin within the C-terminal domain. Proc Natl Acad Sci U S A 104:14604-14609 (Pubitemid 350003191)
20. Hobbs HH, Russell DW, Brown MS, Goldstein JL (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 24:133-170 (Pubitemid 120011544)
21. Hsu LA, Teng MS, Ko YL, Chang CJ, Wu S, Wang CL et al (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 47:154-8
22. Huang CC, Fornage M, Lloyd-Jones DM, Wei GS, Boerwinkle E, Liu K (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 2:354-61
23. Kotowski IK, Pertsemlidis A, Luke A, Cooper RS, Vega GL, Cohen JC et al (2006) A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet 78:410-22 (Pubitemid 43291224)
24. Kwon HJ, Lagace TA, McNutt MC, Horton JD, Deisenhofer J (2008) Molecular basis for LDL receptor recognition by PCSK9. Proc Natl Acad Sci U S A 105:1820-1825 (Pubitemid 351439423)
25. Lagace TA, Curtis DE, Garuti R, McNutt MC, Park SW, Prather HB et al (2006) Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabioticmice. J Clin Invest 116:2995-3005 (Pubitemid 44684484)
26. Lambert G, Charlton F, Rye KA, Piper DE (2009) Molecular basis of PCSK9 function. Atherosclerosis 203:1-7
27. Lambert G, Jarnoux AL, Pineau T, Pape O, Chetiveaux M, Laboisse C (2006) Fasting induces hyperlipidemia in mice overexpressing proprotein convertase subtilisin kexin type 9: lack of modulation of very-low-density lipoprotein hepatic output by the low density lipoprotein receptor. Endocrinology 147:4985-95 (Pubitemid 44402206)
28. Mathers CD, Loncar D (2006) Projections of global mortality and burden of disease from 2002 to 2030. PLoS Med 3:e442
29. Mbikay M, Sirois F, Mayne J, Wang GS, Chen A, Dewpura T (2010) PCSK9-deficient mice exhibit impaired glucose tolerance and pancreatic islet abnormalities. FEBS Lett 584:701-706
30. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
31. Mousavi SA, Berge KE, Leren TP (2009) The unique role of proprotein convertase subtilisin/kexin 9 in cholesterol homeostasis. J Intern Med 266:507-519
32. Norata GD, Garlaschelli K, Grigore L, Raselli S, Tramontana S, Meneghetti F et al (2010) Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles. Atherosclerosis 208:177-82
33. Ouguerram K, Chetiveaux M, Zair Y, Costet P, Abifadel M, Varret M et al (2004) Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol 24:1448-53 (Pubitemid 39050439)
34. Polisecki E, Peter I, Robertson M, McMahon AD, Ford I, Packard C et al (2008) Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population. Atherosclerosis 200(1):95-101
35. Rousselet E, Marcinkiewicz J, Kriz J, Zhou A, Hatten ME, Prat A et al (2011) PCSK9 reduces the protein levels of the LDL receptor in mouse brain during development and after ischemic stroke. J Lipid Res 52:1383-91
36. Saely CH, Drexel H (2013) Is type 2 diabetes really a coronary heart disease risk equivalent? Vascul Pharmacol 59:11-8
37. Scartezini M, Hubbart C, Whittall RA, Cooper JA, Neil AH, Humphries SE (2007) The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men. Clin Sci (Lond) 113:435-41 (Pubitemid 350221385)
38. Seidah NG, Benjannet S, Wickham L, Marcinkiewicz J, Jasmin SB, Stifani S et al (2003) The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci U S A 100:928-933 (Pubitemid 36183932)
39. Seidah NG, Prat A (2007) The proprotein convertases are potential targets in the treatment of dyslipidemia. J Mol Med (Berl) 85:685-696 (Pubitemid 47063524)
40. Stephens M, Sloan JS, Robertson PD, Scheet P, Nickerson DA (2006) Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet 38:375-81
41. Sun XM, Eden ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP et al (2005) Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet 14:1161-9 (Pubitemid 40613905)
42. Wang JG, Staessen JA, Franklin SS, Fagard R, Gueyffier F (2005) Systolic and diastolic blood pressure lowering as determinants of cardiovascular outcome. Hypertension 45:907-13 (Pubitemid 40628936)
43. Yin RX, Wu DF, Miao L, Aung LH, Cao XL, Yan TT et al (2012) Several genetic polymorphisms interact with overweight/obesity to influence serum lipid level. Cardiovasc Diabetol 11:123
44. Zhang B, Menzin J, Friedman M, Korn J, Russel B (2008) Predicted coronary risk for adults with coronary heart disease and low HDL-C: an analysis from the US National Health. and Nutrition Examination Survey. Curr Med Res Opin 24:2711-2717
45. Zhang DW, Lagace TA, Garuti R, Zhao Z, McDonald M, Horton JD et al (2007) Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J Biol Chem 282:18602-12 (Pubitemid 47100234)