The genetics of coronary heart disease

British Medical Bulletin

Volumn 102, Issue 1, 2012, Pages 59-77

  Swerdlow, Daniel I ^a   Holmes, Michael V ^a   Harrison, Seamus ^a   Humphries, Steve E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

complex disease; genome; genome wide association study; Mendelian randomization; pharmacogenetics; prediction

Indexed keywords

LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

CARDIOVASCULAR RISK; CAUSE OF DEATH; CHROMOSOME 9P; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; ISCHEMIC HEART DISEASE; LIPID BLOOD LEVEL; PATHOGENESIS; PATHOPHYSIOLOGY; PHARMACOGENETICS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 9; CORONARY DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENETICS, MEDICAL; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PHARMACOGENETICS; RISK ASSESSMENT;

EID: 84861800030     PISSN: 00071420     EISSN: 14718391     Source Type: Journal    
DOI: 10.1093/bmb/lds009     Document Type: Review

References (76)

1. Lopez A, Mathers C, Ezzati M et al. Global Burden of Disease and Risk Factors. Washington DC, USA: World Health Organisation, 2006.
2. Lloyd-Jones DM, Larson MG, Beiser A et al. Lifetime risk of developing coronary heart disease. Lancet 1999;353:89-92. (Pubitemid 29088076)
3. Marks D, Thorogood M, Neil HAW et al. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1-14. (Pubitemid 36559596)
4. Anderson RG, Goldstein JL, Brown MS. A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts. Nature 1977;270:695-9. (Pubitemid 8239241)
5. Soria LF, Ludwig EH, Clarke HR et al. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 1989;86:587-91. (Pubitemid 19037786)
6. Tybjaerg-Hansen A, Steffensen R, Meinertz H et al. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med 1998;338:1577-84. (Pubitemid 28243987)
7. 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. (Pubitemid 38324948)
8. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
9. Neil A, Cooper J, Betteridge J et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J 2008;29:2625-33.
10. Patterson D, Slack J. Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives. Lancet 1972;1:393-9.
11. Taylor A, Patel K, Tsedeke J et al. Mutation screening in patients for familial hypercholesterolaemia (ADH). Clin Genet 2010;77:97-9.
12. Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:a1095.
13. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357:165-8. (Pubitemid 32108086)
14. Oliva J, Ló pez-Bastida J, Moreno SG et al. Cost-effectiveness analysis of a genetic screening program in the close relatives of Spanish patients with familial hypercholesterolemia. Rev Esp Cardiol 2009;62:57-65.
15. Pocovi M, Civeira F, Alonso R et al. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004;4:67-74. (Pubitemid 38393293)
16. Casas JP, Cooper J, Miller GJ et al. Investigating the genetic determinants of cardiovascular disease using candidate genes and meta-analysis of association studies. Ann Hum Genet 2006;70:145-69.
17. Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science 2001;291:1304-51. (Pubitemid 32173090)
18. Lander ES, Linton LM, Birren B et al. International human genome sequencing consortium initial sequencing and analysis of the human genome. Nature 2001;409:860-921. (Pubitemid 32165345)
19. International HapMap Consortium. The International HapMap Project. Nature 2003;426:789-96.
20. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
21. Hunter DJ, Kraft P. Drinking from the fire hose-statistical issues in genomewide association studies. N Engl J Med 2007;357:436-9. (Pubitemid 47204871)
22. Raychaudhuri S, Sandor C, Stahl EA et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet 2012;44:291-6.
23. Holm H, Gudbjartsson DF, Sulem P et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet 2011;43:316-20.
24. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695-701. (Pubitemid 351748875)
25. Shah S et al. Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy. Circ Cardiovascr Genet 2011;4:626-35.
26. Talmud PJ et al. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am J Hum Genet 2009;85:628-42.
27. Talmud PJ et al. Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study. BMJ 2010;340:b4838.
28. Ripatti S et al. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet 2010;376:1393-400.
29. Samani NJ et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007;357:443-53. (Pubitemid 47204873)
30. McPherson R et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007;316:1488-91. (Pubitemid 46906617)
31. Helgadottir A et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007;316:1491-3. (Pubitemid 46906618)
32. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
33. Humphries SE, Drenos F, Ken-Dror G et al. Coronary heart disease risk prediction in the era of genome-wide association studies: current status and what the future holds. Circulation 2010;121:2235-48.
34. Schunkert H, Koenig IR, Kathiresan S et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011; doi:10.1038/ng.784.
35. Shea J, Agarwala V, Philippakis AA et al. Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nat Genet 2011;43:801-5.
36. Helgadottir A, Thorleifsson G, Magnusson KP et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet 2008;40:217-24. (Pubitemid 351171400)
37. Samani NJ, Raitakari OT, Sipila K et al. Coronary artery disease-associated locus on chromosome 9p21 and early markers of atherosclerosis. Arterioscler Thromb Vasc Biol 2008;28:1679-83.
38. Angelakopoulou A, Shah T, Sofat R et al. Comparative analysis of genome-wide-association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. Eur Heart J 2011; doi:10.1093/eurheartj/ehr225.
39. Cunnington MS, Santibanez Koref M, Mayosi BM et al. Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression. PLoS Genet 2010;6:e1000899.
40. Liu Y et al. INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. PLoS ONE 2009;4:e5027.
41. Pasmant E, Sabbagh A, Vidaud M et al. ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS. FASEB J 2011;25:444-8.
42. Jarinova O, Stewart AFR, Roberts R et al. Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus. Arterioscler Thromb Vasc Biol 2009;29:1671-7.
43. Visel A, Zhu Y, May D et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 2010;464:409-12.
44. Harismendy O et al. 9p21 DNA variants associated with coronary artery disease impair interferon-g signalling response. Nature 2011;470:264-8.
45. Paynter NP et al. Association between a literature-based genetic risk score and cardiovascular events in women. JAMA 2010;303:631-7.
46. McBride CM et al. Putting science over supposition in the arena of personalized genomics. Nat Genet 2008;40:939-42.
47. Hingorani AD, Shah T, Kumari M et al. Translating genomics into improved healthcare. BMJ 2010;341:1037-1042. (c5945-c5945 electronic).
48. Lawlor DA, Harbord RM, Sterne JAC et al. Mendelian randomization: using genes as instruments for making causal inferences in epidemiology. Stat Med 2008;27:1133-63. (Pubitemid 351395448)
49. Smith GD, Ebrahim S. Mendelian randomization: prospects, potentials, and limitations. Int J Epidemiol 2004;33:30-42. (Pubitemid 38528650)
50. Mendel G. Experiments in plant-hybridisation. Brunn, Austria: Brunn Natural History Society, 1865.
51. Crick F. Central dogma of molecular biology. Nature 1970;227:561-3.
52. Hingorani A, Humphries S. Nature's randomised trials. Lancet 2005;366:1906-8. (Pubitemid 41713974)
53. Kaptoge S, Di Angelantonio E, Lowe G et al. C-reactive protein concentration and risk of coronary heart disease, stroke, and mortality: an individual participant meta-analysis. Lancet 2010;375:132-40.
54. Dehghan A, Dupuis J, Barbalic M et al. Meta-analysis of genome-wide association studies in .80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation 2011;123:731-8.
55. Ridker PM, Pare G, Parker A et al. Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Am J Hum Genet 2008;82:1185-92.
56. Reiner AP, Barber M, Guan Y et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet 2008;82:1193-201.
57. Elliott P, Chambers JC, Zhang Weihua et al. Genetic loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA 2009;302:37-48.
58. CRP Coronary Heart Disease Genetics Collaboration. Association between C reactive protein and coronary heart disease: Mendelian randomisation analysis based on individual participant data. BMJ 2011;342:d548.
59. Kivimaki M, Lawlor DA, Davey Smith G et al. Does high C-reactive protein concentration increase atherosclerosis? The Whitehall II study. PLoS ONE 2008;3:e3013.
60. Casas JP, Shah T, Cooper J et al. Insight into the nature of the CRP-coronary event association using Mendelian randomization. Int J Epidemiol 2006;35:922-31. (Pubitemid 44540742)
61. Sarwar N, Sandhu MS, Ricketts SL et al. Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies. Lancet 2010;375:1634-9.
62. Gong IY, Schwarz UI, Crown N et al. Clinical and genetic determinants of warfarin pharmacokinetics and pharmacodynamics during treatment initiation. PLoS ONE 2011;6:e27808.
63. Connolly SJ, Ezekowitz MD, Yusuf S et al. Dabigatran versus warfarin in patients with atrial fibrillation. N Engl J Med 2009;361:1139-51.
64. Flockhart DA, O'Kane D, Williams MS et al. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med 2008;10:139-50. (Pubitemid 351271726)
65. Li Y, Iakoubova OA, Shiffman D et al. KIF6 polymorphism as a predictor of risk of coronary events and of clinical event reduction by statin therapy. Am J Cardiol 2010;106:994-8.
66. Hopewell JC, Parish S, Clarke R et al. No impact of KIF6 genotype on vascular risk and statin response among 18,348 randomized patients in the heart protection study. J Am Coll Cardiol 2011;57:2000-7.
67. Mallal S, Phillips E, Carosi G et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med 2008;358:568-79.
68. Link E, Parish S, Armitage J et al. SLCO1B1 variants and statin-induced myopathy-a genomewide study. N Engl J Med 2008;359:789-99.
69. Holmes MV, Shah T, Vickery C et al. Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies. PLoS ONE 2009;4:e7960.
70. Holmes MV, Casas JP, Hingorani AD. Putting genomics into practice. BMJ 2011;343:d4953.
71. Albert TJ, Molla MN, Muzny DM et al. Direct selection of human genomic loci by microarray hybridization. Nat Methods 2007;4:903-05. (Pubitemid 350042375)
72. MacArthur DG, Balasubramanian S, Frankish A et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012;335:823-8.
73. Rasmussen-Torvik LJ, Li M, Kao WH et al. Association of a fasting glucose genetic risk score with subclinical atherosclerosis: the Atherosclerosis Risk in Communities (ARIC) study. Diabetes 2011;60:331-5.
74. Linsel-Nitschke P, Gotz A, Erdmann J et al. Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease-a Mendelian randomisation study. PLoS ONE 2008;3:e2986.
75. Clarke R et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med 2009;361:2518-28.
76. Keavney B et al. Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'. Int J Epidemiol 2006;35:935-43. (Pubitemid 44540744)