Low-Density Lipoprotein Cholesterol, Apolipoprotein B, and Risk of Coronary Heart Disease: From Familial Hyperlipidemia to Genomics

Biological Research for Nursing

Volumn 15, Issue 3, 2013, Pages 292-308

  Imes, Christopher C ^a   Austin, Melissa A ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

apolipoprotein B (apo B); coronary heart disease (CHD); genetics; genomics; low density lipoprotein cholesterol (LDL C)

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

APOLIPOPROTEIN B (APO B); BLOOD; CORONARY ARTERY DISEASE; CORONARY HEART DISEASE (CHD); GENETICS; GENOMICS; HUMAN; HUMAN GENOME; HYPERLIPIDEMIA; LOW-DENSITY LIPOPROTEIN CHOLESTEROL (LDL-C); REVIEW; RISK FACTOR;

APOLIPOPROTEIN B (APO B); CORONARY HEART DISEASE (CHD); GENETICS; GENOMICS; LOW-DENSITY LIPOPROTEIN CHOLESTEROL (LDL-C);

APOLIPOPROTEINS B; CHOLESTEROL, LDL; CORONARY DISEASE; GENOME, HUMAN; HUMANS; HYPERLIPIDEMIAS; RISK FACTORS;

EID: 84878762624     PISSN: 10998004     EISSN: 15524175     Source Type: Journal    
DOI: 10.1177/1099800412436967     Document Type: Review

References (88)

1. Abifadel M.,Rabes J. P.,Devillers M.,Munnich A.,Erlich D.,Junien C.,Boileau C.Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.Human Mutation. 2009;30:520-529.
2. Adult Treatment Panel III. (2002). Third report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults final report. Circulation, 106, 3143-3421. Retrieved fromhttp://circ.ahajournals.org/cgi/content/full/106/25/3143.
3. APOA5-apolipoprotein A-V. (n.d.). Retrieved July 5, 2011, from the U. S. National Library of Medicine's Genetics Home Reference website: http://ghr.nlm.nih.gov/gene/APOA5.
4. ATP-binding cassette, subfamily G, member 5. (2011) Retrieved from Online Mendelian Inheritance in Man athttp://omim.org/entry/605459.
5. Aulchenko Y. S.,Ripatti S.,Lindqvist I.,Boomsma D.,Heid I. M.,Pramstaller P. P.,Peltonen L.Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.Nature Genetics. 2009;41:47-55.
6. Austin M. A.,Brunzell J. D.,Fitch W. L.,Krauss R. M.Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia.Arteriosclerosis. 1990;10:520-530.
7. Austin M. A.,Hutter C. M.,Zimmern R. L.,Humphries S. E.Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review.American Journal of Epidemiology. 2004;160:407-420.
8. Austin M. A.,McKnight B.,Edwards K. L.,Bradley C. M.,McNeely M. J.,Psaty B. M.,Motulsky A. G.Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study.Circulation. 2000;101:2777-2782.
9. Benn M.Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review.Atherosclerosis. 2009;206:17-30.
10. Benn M.,Nordestgaard B. G.,Jensen G. B.,Tybjaerg-Hansen A.Improving prediction of ischemic cardiovascular disease in the general population using apolipoprotein B.Arteriosclerosis, Thrombosis, and Vascular Biology. 2007;27:661-670.
11. Bennet A.,Di Angelantonio E.,Erqou S.,Eiriksdottir G.,Sigurdsson G.,Woodward M.,Gudnason V.Lipoprotein(a) levels and risk of future coronary heart disease: Large-scale prospective data.Archives of Internal Medicine. 2008;168:598-608.
12. Berenson G. S.,Srinivasan S. R.,Bao W.,Newman W. P.,Tracy R. E.,Wattigney W. A.Association between multiple cardiovascular risk factors and atherosclerosis in children and young adults.New England Journal of Medicine. 1998;338:1650-1656.
13. BhatiaS. S.DaviesR. W.McPhersonR. (2009). Relationship of rs4420638 in the APOE/C1/C4/C2 locus to coronary artery disease. Paper presented at the 59th Annual Meeting of the American Society of Human Genetics, Honolulu, HI. Abstract retrieved fromhttp://www.ashg.org/2009meeting/abstracts/fulltext/f10745.htm.
14. Burke W.,Pinsky L. E.,Press N. A.Categorizing genetic tests to identify their ethical, legal, and social implications.American Journal of Medical Genetics. 2001;106:233-240.
15. Burke W.,Zimmern R. L.Ensuring the appropriate use of genetic tests.Nature Reviews Genetics. 2004;5:955-959.
16. Burkhardt R.,Kenny E. E.,Lowe J. K.,Birkeland A.,Josowitz R.,Noel M.,Breslow J. L.Common SNPs in HMGCR in Micronesians and Whites associated with LDL-cholesterol levels affect alternative splicing of exon13.Arteriosclerosis, Thrombosis, and Vascular Biology. 2008;28:2078-2084.
17. Centers for Disease Control and Prevention, Office of Genetics and Disease Prevention. (2000). Gene-environment interaction fact sheet, August 2000. Atlanta, GA: Author. Retrieved fromwww.ashg.org/pdf/CDC%20Gene-Environment%20Interaction%20Fact%20Sheet.pdf.
18. Chien K. L.,Hsu H. C.,Su T. C.,Chen M. F.,Lee Y. T.,Hu F. B.Apolipoprotein B and non-high density lipoprotein cholesterol and the risk of coronary heart disease in Chinese.Journal of Lipid Research. 2007;48:2499-2505.
19. Contois J. H.,McConnell J. P.,Sethi A. A.,Csako G.,Devaraj S.,Hoefner D. M. &,Warnick G. R.Apolipoprotein B and cardiovascular disease risk: Position statement from the AACC Lipoproteins and Vascular Diseases Division Working Group on Best Practices.Clinical Chemistry. 2009;55:407-419.
20. Defesche J. C.,Schuurman E. J.,Klaaijsen L. N.,Khoo K. L.,Wiegman A.,Stalenhoef A. F.Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.Clinical Genetics. 2008;73:573-578.
21. Delaney J. A.,Daskalopoulou S. S.,Brophy J. M.,Steele R. J.,Opatrny L.,Suissa S.Lifestyle variables and the risk of myocardial infarction in the general practice research database.BMC Cardiovascular Disorders. 2007;7:38.
22. DreonD. M.FernstromH. A.MillerB.KraussR. M. (1994). Low-density lipoprotein subclass patterns and lipoprotein response to a reduced-fat diet in men. FASEB Journal, 8, 121-126. Retrieved fromhttp://www.fasebj.org/content/8/1/121.long.
23. Genest J.Lipoprotein disorders and cardiovascular risk.Journal of Inherited Metabolic Disease. 2003;26:267-287.
24. Goldstein J. L.,Brown M. S.History of discovery: The LDL receptor.Arteriosclerosis, Thrombosis, and Vascular Biology. 2009;29:431-438.
25. Grundy S. M.Cholesterol and atherosclerosis: Diagnosis and treatment. Philadelphia, PA: J. B. Lippincott Company; 1990:.
26. MRC/BHF Heart Protection Study of cholesterol lowering with simvastatin in 20,536 high-risk individuals: A randomised placebo-controlled trial.Lancet. 2002;360:7-22.
27. Hegele R. A.Plasma lipoproteins: Genetic influences and clinical implications.Nature Reviews Genetics. 2009;10:109-121.
28. HindorffL. A.MacArthurJ.(European Bioinformatics Institute), WiseA.JunkinsH. A.HallP. N., Klemm, A. K.ManolioT. A. (n.d.). A catalog of published genome-wide association studies. Retrieved May 28, 2011, from the National Human Genome Research Institute website: www.genome.gov/gwastudies.
29. Hiura Y.,Tabara Y.,Kokubo Y.,Okamura T.,Goto Y.,Nonogi H.,Iwai N.Association of the functional variant in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with low-density lipoprotein-cholesterol in Japanese.Circulation Journal. 2010;74:518-522.
30. Holman R. L.Atherosclerosis-A pediatric nutrition problem?.American Journal of Clinical Nutrition. 1961;9:565-569.
31. Holme I.,Hostmark A. T.,Anderson S. A.ApoB but not LDL-cholesterol is reduced by exercise training in overweight healthy men. Results from the 1-year randomized Oslo Diet and Exercise Study.Journal of Internal Medicine. 2007;262:235-243.
32. Hyperlipidemia, Familial Combined. (2007). Retrieved from Online Mendelian Inheritance in Man athttp://omim.org/entry/144250.
33. Insull W.The pathology of atherosclerosis: Plaque development and plaque responses to medical treatment.American Journal of Medicine. 2009;122:S3-S14.
34. Kathiresan S.,Melander O.,Anevski D.,Guiducci C.,Burtt N. P.,Roos C.,Orho-Melander M.Polymorphisms associated with cholesterol and risk of cardiovascular events.New England Journal of Medicine. 2008;358:1240-1249.
35. Kathiresan S.,Willer C. J.,Peloso G. M.,Demissie S.,Musunuru K.,Schadt E. E.,Cupples L. A.Common variants at 30 loci contribute to polygenic dyslipidemia.Nature Genetics. 2009;41:56-65.
36. Ken-Dror G.,Talmud P. J.,Humphries S. E.,Drenos F.APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men.Molecular Medicine. 2010;16:389-399.
37. Kolovou G. D.,Anagnostopoulou K. K.,Kostakou P. M.,Bilianou H.,Mikhailidis D. P.Primary and secondary hypertriglyceridaemia.Current Drug Targets. 2009;10:336-343.
38. Kullo I. J.,Cooper L. T.Early identification of cardiovascular risk using genomics and proteomics.Nature Reviews Cardiology. 2010;7:309-317.
39. LawsonC.WolfS. (2009). ICAM-1 signaling in endothelial cells. Pharmacological Reports, 61, 22-32. Retrieved fromhttp://www.if-pan.krakow.pl/pjp/pdf/2009/1_22.pdf.
40. LDLRAP1-low density lipoprotein receptor adaptor protein 1. (2007). Retrieved from the U. S. National Library of Medicine's Genetics Home Reference website: http://ghr.nlm.nih.gov/gene/LDLRAP1.
41. Leigh S. E.,Foster A. H.,Whittall R. A.,Hubbart C. S.,Humphries S. E.Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.Annals of Human Genetics. 2008;72:485-498.
42. Lloyd-Jones D.,Adams R. J.,Brown T. M.,Carnethon M.,Dai S.,De Simone G.,Wylie-Rosett J.Heart disease and stroke statistics-2010 update: A report from the American Heart Association.Circulation. 2010;121:e46-e215.
43. Lusis A. J.,Pajukanta P.A treasure trove for lipoprotein biology.Nature Genetics. 2008;40:129-130.
44. MaedaS.AbeA.SeishimaM.MakinoK.NomaA.KawadeM. (1989). Transient changes of serum lipoprotein(a) as an acute phase protein. Atherosclerosis, 78, 145-150. Retrieved fromhttp://www.atherosclerosis-journal.com/article/0021-9150%2889%2990218-9/abstract.
45. MahleyR. W.HuangY.RallS. C, Jr. (1999). Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. Journal of Lipid Research, 40, 1933-1949. Retrieved fromhttp://www.jlr.org/content/40/11/1933.long.
46. Manolio T. A.Genomewide association studies and assessment of the risk of disease.New England Journal of Medicine. 2010;363:166-176.
47. Manolio T. A.,Collins F. S.,Cox N. J.,Goldstein D. B.,Hindorff L. A.,Hunter D. J.,Visscher P. M.Finding the missing heritability of complex diseases.Nature. 2009;461:747-753.
48. Marcovina S. M.,Koschinsky M. L.Lipoprotein(a) as a risk factor for coronary artery disease.American Journal of Cardiology. 1998;82:57U-66U.
49. Matthan N. R.,Welty F. K.,Barrett H. R.,Harausz C.,Dolnikowski G. G.,Parks J. S.,Lichtenstein A. H.Dietary hydrogenated fat increase high-density lipoprotein apoA-I catabolism and decreases low-density lipoprotein apoB-100 catabolism in hypercholesterolemic women.Arteriosclerosis, Thrombosis, and Vascular Biology. 2004;24:1092-1097.
50. McCormickS. P. (2004). Lipoprotein(a): Biology and clinical importance. Clinical Biochemist: Reviews, 25, 69-80. Retrieved fromhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1853362/.
51. McGill H. C.,McMahan C. A.,Gidding S. S.Preventing heart disease in the 21st century: Implications of the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study.Circulation. 2008;117:1216-1227.
52. McPherson E.Genetic diagnosis and testing in clinical practice.Clinical Medicine & Research. 2006;4:123-129.
53. Nakamura H.,Arakawa K.,Itakura H.,Kitabatake A.,Goto Y.,Toyota T.,Ohashi Y.Primary prevention of cardiovascular disease with pravastatin in Japan (MEGA Study): A prospective randomised controlled trial.Lancet. 2006;368:1155-1163.
54. Nakayama K.,Bayasgalan T.,Yamanaka K.,Kumada M.,Gotoh T.,Utsumi N.,Iwamoto S.Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.Journal of Medical Genetics. 2009;46:370-374.
55. Natarajan P.,Ray K. K.,Cannon C. P.High-density lipoprotein and coronary heart disease.Journal of the American College of Cardiology. 2010;55:1283-1299.
56. National Center for Biotechnology Information. (2010). Coronary heart disease. Retrieved fromhttp://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004449/.
57. National Center for Biotechnology Information. (n.d.). Submission and assignment of submitted SNP(ss)/refSNP(rs) numbers. Retrieved December 15, 2011, fromhttp://www.ncbi.nlm.nih.gov/books/NBK44391/.
58. Naukkarinen J.,Ehnholm C.,Peltonen L.Genetics of familial combined hyperlipidemia.Current Opinion in Lipidology. 2006;17:285-290.
59. Nordestgaard B. G.,Chapman M. J.,Ray K.,Boren J.,Andreotti F.,Watts G. F.,Tybjærg-Hansen A.Lipoprotein(a) as a cardiovascular risk factor: Current status.European Heart Journal. 2010;31:2844-2853.
60. Pearson T. A.,Manolio T. A.How to interpret a genome-wide association study.Journal of the American Medical Association. 2008;299:1335-1344.
61. PekkanenJ.LinnS.HeissG.SuchindranC. M.LeonA.RifkindB. M.TryolerH. A. (1990). Ten-year mortality from cardiovascular disease in relation to cholesterol level among men with and without preexisting cardiovascular disease. New England Journal of Medicine, 322, 1700-1707. Retrieved fromhttp://www.nejm.org/doi/full/10.1056/NEJM199006143222403.
62. Pisciotta L.,Priore Oliva C.,Pes G. M.,Di Scala L.,Bellocchio A.,Fresa R.,Bertolini S.Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison.Atherosclerosis. 2006;188:398-405.
63. Plaisier C. L.,Horvath S.,Huertas-Vazquez A.,Cruz-Bautista I.,Herrera M. F.,Tusie-Luna T.,Pajukanta P.A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia.PLoS Genetics. 2009;5:e1000642.
64. Reich D. E.,Lander E. S.On the allelic spectrum of human disease.Trends in Genetics. 2001;17:502-510.
65. Ridker P. M.,Rifai N.,Cook N. R.,Bradwin G.,Buring J. E.Non-HDL cholesterol, apolipoproteins A-I and B100, standard lipid measures, lipid ratios, and CRP as risk factors for cardiovascular disease in women.Journal of the American Medical Association. 2005;294:326-333.
66. RussoC. A.AndrewsR. M. (2006, September). The national hospital bill: The most expensive conditions, by payer, 2004(HCUP Statistical Brief no. 13). Rockville, MD: Agency for Healthcare Research and Quality. Retrieved fromhttp://www.hcup-us.ahrq.gov/reports/statbriefs/sb13.pdf.
67. Sabatti C.,Service S. K.,Hartikainen A. L.,Pouta A.,Ripatti S.,Brodsky J.,Peltonen L.Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.Nature Genetics. 2009;41:35-46.
68. Sáez M. E.,González-Pérez A.,Martínez-Larrad M. T.,Gayán J.,Real L. M.,Serrano-Ríos M. &,Ruiz A.WWOX gene is associated with HDL cholesterol and triglyceride levels.BMC Medical Genetics. 2010;11:148.
69. SchaeferE. J. (2002). Lipoproteins, nutrition, and heart disease. American Journal of Clinical Nutrition75, 191-212. Retrieved fromhttp://www.ajcn.org/content/75/2/191.full.
70. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: The Scandinavian Simvastatin Survival Study (4 S).Lancet. 1994;344:1383-1389.
71. Seal N.Introduction to genetics and childhood obesity: Relevance to nursing practice.Biological Research for Nursing. 2011;13:61-69.
72. Sever P. S.,Dahlof B.,Poulter N. R.,Wedel H.,Beevers G.,Caulfield M.,Ostergren J.Prevention of coronary and stroke events with atorvastatin in hypertensive patients who have average or lower-than-average cholesterol concentrations, in the Anglo-Scandinavian Cardiac Outcomes Trial-Lipid Lowering Arm (ASCOT-LLA): A multicentre randomised controlled trial.Lancet. 2003;361:1149-1158.
73. Shepherd J.,Blauw G. J.,Murphy M. B.,Bollen E. L.,Buckley B. M.,Cobbe S. M.,Westendorp R. G.Pravastatin in elderly individuals at risk of vascular disease (PROSPER): A randomised controlled trial.Lancet. 2002;360:1623-1630.
74. Shoulders C. C.,Jones E. L.,Naoumova R. P.Genetics of familial combined hyperlipidemia and risk of coronary heart disease.Human Molecular Genetics. 2004;13:R149-R160.
75. Slatkin M.Linkage disequilibrium-Uunderstanding the evolutionary past and mapping the medical future.Nature Reviews Genetics. 2008;9:477-485.
76. Stamler J.,Stamler R.,Neaton J. D.,Wentworth D.,Daviglus M. L.,Garside D.,Greenland P.Low risk-factor profile and long-term cardiovascular and noncardiovascular mortality and life expectancy: Findings for 5 large cohorts of young adult and middle-aged men and women.Journal of the American Medical Association. 1999;282:2012-2018.
77. St-Pierre A. C.,Cantin B.,Dagenais G. R.,Despres J. P.,Lamarche B.Apolipoprotein-B, low-density lipoprotein cholesterol, and the long-term risk of coronary heart disease in men.American Journal of Cardiology. 2006;97:997-1001.
78. Surmi B. K.,Hasty A. H.The role of chemokines in recruitment of immune cells to the artery wall and adipose tissue.Vascular Pharmacology. 2010;52:27-36.
79. Tabor H. K.,Risch N. J.,Myers R. M.Candidate-gene approaches for studying complex genetic traits: Practical considerations.Nature Reviews Genetics. 2002;3:391-397.
80. Tai E. S.,Sim X. L.,Ong T. H.,Wong T. Y.,Saw S. M.,Aung T.,Seielstad M.Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population.Journal of Lipid Research. 2009;50:514-520.
81. ToborekM.LeeY. W.GarridoR.KaiserS.HennigB. (2002). Unsaturated fatty acids selectively induce an inflammatory environment in human endothelial cells. American Journal of Clinical Nutrition, 75, 119-125. Retrieved fromhttp://www.ajcn.org/content/75/1/119.full.
82. U.S. Department of Energy. (2008). Human genome project information. SNP fact sheet. Retrieved fromhttp://www.ornl.gov/sci/techresources/Human_Genome/faq/snps.shtml.
83. Visscher P. M.,Montgomery G. W.Genome-wide association studies and human disease: From trickle to flood.Journal of the American Medical Association. 2009;302:2028-2029.
84. Volpato S.,Vigna G. B.,McDermott M. M.,Cavalieri M.,Maraldi C.,Lauretani F.,Ferrucci L.Lipoprotein(a), inflammation, and peripheral arterial disease in a community-based sample of older men and women (the InCHIANTI study).American Journal of Cardiology. 2010;105:1825-1830.
85. Waterworth D. M.,Ricketts S. L.,Song K.,Chen L.,Zhao J. H.,Ripatti S.,Sandhu M. S.Genetic variants influencing circulating lipid levels and risk of coronary artery disease.Arteriosclerosis, Thrombosis, Vascular Biology. 2010;30:2264-2276.
86. Willer C. J.,Sanna S.,Jackson A. U.,Scuteri A.,Bonnycastle L. L.,Clarke R.,Abecasis G. R.Newly identified loci that influence lipid concentrations and risk of coronary artery disease.Nature Genetics. 2008;40:161-169.
87. WilsonP. W.D'AgostinoR. B.LevyD.BelangerA. M.SilbershatzH.KannelW. B. (1998). Prediction of coronary heart disease using risk factor categories. Circulation, 97, 1837-1847. Retrieved fromhttp://circ.ahajournals.org/cgi/content/full/97/18/1837.
88. Wong N. D.,Wilson P. W.,Kannel W. B.Serum cholesterol as a prognostic factor after myocardial infarction: The Framingham Study.Annals of Internal Medicine. 1991;115:687-693.