Proprotein convertase subtilisin/kexin type 9 gene e670g polymorphism interacts with alcohol consumption to modulate serum lipid levels

International Journal of Medical Sciences

Volumn 10, Issue 2, 2012, Pages 124-132

  Aung, Lynn Htet Htet ^a   Yin, Rui Xing ^a   Wu, Dong Feng ^a   Cao, Xiao Li ^a   Hu, Xi Jiang ^b   Miao, Lin ^a  

^a GUANGXI MEDICAL UNIVERSITY   (China)

^b Department of Cardiology   (China)

Author keywords

Alcohol consumption; Interaction; Lipids; Polymorphism; Proprotein convertase subtilisin kexin type 9 gene

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGED; ALCOHOL CONSUMPTION; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; FEMALE; GEL ELECTROPHORESIS; GENE; GENE FREQUENCY; GENOTYPE; HUMAN; LIPID BLOOD LEVEL; MALE; POLYMERASE CHAIN REACTION; PROPROTEIN CONVERSTASE SUBTILISIN KEXIN TYPE 9 GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

ALCOHOL CONSUMPTION; INTERACTION.; LIPIDS; POLYMORPHISM; PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 9 GENE;

ADULT; ALCOHOL DRINKING; CHOLESTEROL, HDL; CHOLESTEROL, LDL; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; LIPIDS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PROPROTEIN CONVERTASES; SERINE ENDOPEPTIDASES; TRIGLYCERIDES;

EID: 84872149579     PISSN: 14491907     EISSN: None     Source Type: Journal    
DOI: 10.7150/ijms.5296     Document Type: Article

References (46)

1. Doll R, Peto R, Hall E, et al. Mortality in relation to consumption of alcohol. BMJ. 1994;309:911-8.
2. Camargo CA Jr, Hennekens CH, Gaziano JM, et al. Prospective study of moderate alcohol consumption and mortality in US male physicians. Arch Intern Med. 1997;157:79-85.
3. Grønbaek M, Deis A, Becker U, et al. Alcohol and mortality: is there a U-shaped relation in elderly people? Age Ageing. 1998; 27:739-44.
4. Kiechl S, Willeit J, Rungger G, et al. Alcohol consumption and athero- sclerosis: what is the relation? Prospective results from the Bruneck Study. Stroke. 1998;29:900-7.
5. McElduff P, Dobson AJ. How much alcohol and how often? Population based case-control study of alcohol consumption and risk of a major coronary event. BMJ. 1997;314:1159-64.
6. Criqui MH, Cowan LD, Tyroler HA, et al. Lipoproteins as mediators for the effects of alcohol consumption and cigarette smoking on cardiovas- cular mortality: results from the Lipid Research Clinics Follow-up Study. Am J Epidemiol. 1987;126:629-37.
7. Choudhury SR, Ueshima H, Kita Y, et al. Alcohol intake and serum lipids in a Japanese population. Int J Epidemiol. 1994;23:940-7.
8. Rimm EB, Williams P, Fosher K, et al. Moderate alcohol intake and lower risk of coronary heart disease: Meta-analysis of effects on lipids and haemostatic factors. BMJ. 1999;319:1523-8.
9. De Oliveira E, Silva ER, Foster D, McGee Harper M, et al. Alcohol consumption raises HDL cholesterol levels by increasing the transport rate of apolipoproteins A-I and A-II. Circulation. 2000;102:2347-52.
10. Agarwal DP. Cardioprotective effects of light-moderate consumption of alcohol: a review of putative mechanisms. Alcohol Alcohol. 2002;37:409-15.
11. Stampfer MJ, Kraussm RM, Ma J, et al. A prospective study of trigliceryde level, low-density lipoprotein particle diameter, and risk of myocardial infarction. JAMA. 1996;276:882-8.
12. Brinton EA. Effects of ethanol intake on lipoproteins and atherosclerosis. Curr Opin Lipidol. 2010;21:346-51.
13. Perissinotto E, Buja A, Maggi S, et al. Alcohol consumption and cardiovascular risk factors in older lifelong wine drinkers: the Italian Longitudinal Study on Aging. Nutr Metab Cardiovasc Dis. 2010;20:647-55.
14. Onat A, Hergenc G, Dursunoglu D, et al. Associations of alcohol consumption with blood pressure, lipoproteins, and subclinical inflammation among Turks. Alcohol. 2008;42: 593-601.
15. Savolainen MJ, Kesaniemi YA. Effects of alcohol lipoproteins in relation to coronary heart disease. Curr Opin Lipidol. 1995;6:243-50.
16. Maxwell KN, Breslow JL. Adenoviral-mediated expression of PCSK9 in mice results in a low-density lipoprotein receptor knockout phenotype. Proc Natl Acad Sci USA. 2004;101:7100-5.
17. Benjannet S, Rhainds D, Essalmani R, et al. NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. J Biol Chem. 2004;279:48865-75.
18. Park SW, Moon YA, 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;279:50630-8.
19. Lalanne F, Lambert G, Amar MJ, 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;46:1312-9.
20. Ouguerram K, Chetiveaux M, Zair Y, et al. Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol. 2004;24:1448-53.
21. Sun XM, Eden ER, Tosi I, et al. Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet. 2005;14:1161-9.
22. Lambert G, Jarnoux AL, Pineau T, et al. 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. 2006;147:4985-95.
23. Zhou A, Webb G, Zhu X, et al. Proteolytic processing in the secretory pathway. J Biol Chem. 1999;274:20745-8.
24. Maxwell KN, Breslow JL. Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia. Curr Opin Lipidol. 2005;16: 167-72.
25. Poirier S, Mayer G, Benjannet S, et al. The proprotein convertase PCSK9 induces the degradation of LDLR and its closest family members VLDLR and APOER2. J Biol Chem. 2008;283:2363-72.
26. Maxwell KN, Fisher EA, Breslow JL. Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment. Proc Natl Acad Sci USA. 2005;102:2069-74.
27. Zhang DW, Lagace TA, Garuti R, et al. Binding of PCSK9 to EGFA repeat of LDL receptor decreases receptor recycling and increases degradation. J Biol Chem. 2007;282: 18602-12.
28. Cunningham D, Danley DE, Geoghegan KF, et al. Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. Nat Struct Mol Biol. 2007;14:413-9.
29. Seidah NG, Benjannet S, Wickham L, et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci USA. 2003;100:928-33.
30. Abifadel M, Varret M, Rabès JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154-6.
31. Timms KM, Wagner S, Samuels ME, et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet. 2004;114: 349-53.
32. Leren TP. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet. 2004;65:419-22.
33. 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;354:1264-72.
34. 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;37:161-5.
35. Kotowski IK, Pertsemlidis A, Luke A, et al. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet. 2006;78: 410-22.
36. Chen SN, Ballantyne CM, Gotto AM Jr, et al. A common PCSK9 haplo- type, 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. 2005;45:1611-9.
37. Evans D, Beil FU. The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women. BMC Med Genet. 2006;7:66.
38. Norata GD, Garlaschelli K, Grigore L, et al. Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles. Atherosclerosis. 2010; 208:177-82.
39. Hsu LA, Teng MS, Ko YL, et al. 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. 2009;47:154-8.
40. Ding K, Kullo IJ. Molecular population genetics of PCSK9: a signature of recent positive selection. Pharmacogenet Genomics. 2008;18:169-79.
41. Aung LH, Yin RX, Miao L, et al. 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. 2011;10:5.
42. Scartezini M, Hubbart C, Whittall RA, et al. The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men. Clin Sci (Lond). 2007;113:435-41.
43. Polisecki E, Peter I, Robertson M, et al. 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. 2008;200:95-101.
44. Huang CC, Fornage M, Lloyd-Jones DM, Wei GS, et al. Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study. Circ Cardiovasc Genet. 2009;2: 354-61.
45. Ruixing Y, Qiming F, Dezhai Y, et al. Comparison of demography, diet, lifestyle, and serum lipid levels between the Guangxi Bai Ku Yao and Han populations. J Lipid Res. 2007;48:2673-81.
46. Ruixing Y, Dezhai Y, Shuquan L, et al. Hyperlipidaemia and its risk factors in the Guangxi Bai Ku Yao and Han populations. Public Health Nutr. 2009;12:816-24.