Genetics of coronary artery disease and myocardial infarction - 2013

Current Cardiology Reports

Volumn 15, Issue 6, 2013, Pages

  Kessler, Thorsten ^a   Erdmann, Jeanette ^b,c   Schunkert, Heribert ^a,c  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

Author keywords

Coronary artery disease; Genetics; Genome wide association study; Myocardial infarction

Indexed keywords

ARTICLE; BIOINFORMATICS; BIOLOGY; CARDIOVASCULAR RISK; CLINICAL RESEARCH; CORONARY ARTERY DISEASE; DRUG TARGETING; GENE IDENTIFICATION; GENE LOCUS; GENE THERAPY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENETICS; HEART INFARCTION; HUMAN; MOLECULAR GENETICS; NONHUMAN; RISK ASSESSMENT; RISK FACTOR; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS; CHROMOSOME MAP; FEMALE; GENETIC PREDISPOSITION; MALE; PHENOTYPE; REVIEW;

CHROMOSOME MAPPING; CORONARY ARTERY DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MYOCARDIAL INFARCTION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT; RISK FACTORS;

EID: 84876394945     PISSN: 15233782     EISSN: 15343170     Source Type: Journal    
DOI: 10.1007/s11886-013-0368-0     Document Type: Article

References (52)

1. Heidenreich PA, Trogdon JG, Khavjou OA, Butler J, Dracup K, Ezekowitz MD, et al. Forecasting the future of cardiovascular disease in the United States: a policy statement from the American Heart Association. Circulation. 2011;123:933-44.
2. Yusuf S, Hawken S, Ounpuu S, Dans T, Avezum A, Lanas F, et al. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet. 2004;364:937-52. (Pubitemid 39208455)
3. Myers RH, Kiely DK, Cupples LA, Kannel WB. Parental history is an independent risk factor for coronary artery disease: the Framingham Study. Am Heart J. 1990;120:963-9. (Pubitemid 20346165)
4. Murabito JM, Pencina MJ, Nam B-H, D'agostino RB, Wang TJ, Lloyd-Jones D, et al. Sibling cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults. JAMA. 2005;294:3117-23. (Pubitemid 43016803)
5. Mayer B, Erdmann J, Schunkert H. Genetics and heritability of coronary artery disease and myocardial infarction. Clin Res Cardiol. 2007;96:1-7. (Pubitemid 46175364)
6. Schunkert H, Erdmann J, Samani NJ. Genetics of myocardial infarction: a progress report. Eur Heart J. 2010;31:918-25.
7. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, et al. A common variant on Chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-3. (Pubitemid 46906618)
8. Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007;357:443-53. (Pubitemid 47204873)
9. Consortium WTCC. Genome-wide association study of 14,000 cases of 7 common diseases and 3000 shared controls. Nature. 2007;447:661-78. (Pubitemid 46889737)
10. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860-921. (Pubitemid 32165345)
11. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409:928-33. (Pubitemid 32165347)
12. Topol EJ, Murray SS, Frazer KA. The genomics gold rush. JAMA. 2007;298:218-21. (Pubitemid 47057769)
13. Preuss M, König IR, Thompson JR, Erdmann J, Absher DM, Assimes TL, et al. Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-analysis (CARDIoGRAM) study: a genome-wide association meta-analysis involving more than 22,000 cases and 60,000 controls. Circ Cardiovasc Genet. 2010;3:475-83.
14. Coronary Artery Disease C4D Genetics Consortium. A genome-wide association study in Europeans and South Asians identifies 5 new loci for coronary artery disease. Nat Genet. 2011;43:339-44.
15. •• Schunkert H, König IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;43:333-8. The CARDIoGRAM consortium identified 13 new susceptibility loci in a meta-analysis of more than 20,000 cases and 60,000 controls.
16. Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, et al. The CARDIoGRAMplusC4D Consortium. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet. 2012.
17. Gardemann A, Weiss T, Schwartz O, Eberbach A, Katz N, Hehrlein FW, et al. Gene polymorphism but not catalytic activity of angiotensin I-converting enzyme is associated with coronary artery disease and myocardial infarction in low-risk patients. Circulation. 1995;92:2796-9.
18. Winkelmann BR, Nauck M, Klein B, Russ AP, Böhm BO, Siekmeier R, et al. Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with increased plasma angiotensin-converting enzyme activity but not with increased risk for myocardial infarction and coronary artery disease. Ann Intern Med. 1996;125:19-25.
19. Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, et al. Myocardial Infarction Genetics Consortium. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009;41:334-41.
20. The IBC. 50 K CAD Consortium. Large-scale gene-centric analysis identifies novel variants for coronary artery disease. Visscher PM, editor. PLoS Genet. 2011;7:e1002260.
21. Erdmann J, Grosshennig A, Braund PS, König IR, Hengstenberg C, Hall AS, et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet. 2009;41:280-2.
22. Wang F, Xu C-Q, He Q, Cai J-P, Li X-C, Wang D, et al. Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population. Nat Genet. 2011;43:345-9.
23. Tregouet D-A, König IR, Erdmann J, Munteanu A, Braund PS, Hall AS, et al. Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. Nat Genet. 2009;41:283-5.
24. McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, et al. A common allele on Chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-91. (Pubitemid 46906617)
25. • Reilly MP, Li M, He J, Ferguson JF, Stylianou IM, Mehta NN, et al. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: 2 genome-wide association studies. Lancet. 2011;377:383-92. Reilly et al. identified the ABO and ADAMTS7 loci as susceptibility loci and discovered an association of ADAMTS-7 with CAD but not MI.
26. Gudbjartsson DF, Bjornsdottir US, Halapi E, Helgadottir A, Sulem P, Jonsdottir GM, et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet. 2009;41:342-7.
27. Schunkert H, Götz A, Braund P, McGinnis R, Tregouet D-A, Mangino M, et al. Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation. 2008;117:1675-84. (Pubitemid 351482592)
28. Clarke R, Peden JF, Hopewell JC, Kyriakou T, Goel A, Heath SC, et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med. 2009;361:2518-28.
29. Wild PS, Zeller T, Schillert A, Szymczak S, Sinning CR, Deiseroth A, et al. A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circ Cardiovasc Genet. 2011;4:403-12.
30. Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet. 2009;41:1182-90.
31. Helgadottir A, Thorleifsson G, Magnusson KP, Gretarsdottir S, Steinthorsdottir V, Manolescu A, 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)
32. Peden JF, Farrall M. Thirty-five common variants for coronary artery disease: the fruits of much collaborative labor. Hum Mol Genet. 2011;20:R198-205.
33. D'agostino RB, Vasan RS, Pencina MJ, Wolf PA, Cobain M, Massaro JM, et al. General cardiovascular risk profile for use in primary care: the Framingham Heart Study. Circulation. 2008;117:743-53. (Pubitemid 351640675)
34. Paynter NP, Chasman DI, Paré G, Buring JE, Cook NR, Miletich JP, et al. Association between a literature-based genetic risk score and cardiovascular events in women. JAMA. 2010;303:631-7.
35. Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, et al. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet. 2010;376:1393-400.
36. • Hughes M, Saarela O, Stritzke J, Kee F, Silander K, Klopp N, et al. Genetic markers enhance coronary risk prediction in men: the MORGAM Prospective Cohorts. Schäfer A, editor. PLoS One. 2012;7:e40922. The inclusion of genetic data in risk scores improves risk classification in middle-aged individuals.
37. Thanassoulis G, Peloso GM, Pencina MJ, Hoffmann U, Fox CS, Cupples LA, et al. A genetic risk score is associated with incident cardiovascular disease and coronary artery calcium: the Framingham Heart Study. Circ Cardiovasc Genet. 2012;5:113-21.
38. Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet. 2008;40:189-97. (Pubitemid 351171402)
39. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al. Biological, clinical, and population relevance of 95 loci for blood lipids. Nature. 2010;466:707-13.
40. Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, et al. Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet. 2009;41:666-76.
41. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, et al. Genome-wide association study of blood pressure and hypertension. Nat Genet. 2009;41:677-87.
42. Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, et al. International Consortium for Blood Pressure Genome-Wide Association Studies; genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011;478:103-9.
43. O'Donnell CJ, Kavousi M, Smith AV, Kardia SLR, Feitosa MF, Hwang S-J, et al. Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation. 2011;124:2855-64.
44. Liu C-J. The role of ADAMTS-7 and ADAMTS-12 in the pathogenesis of arthritis. Nat Clin Pract Rheumatol. 2009;5:38-45.
45. Liu C-J, Kong W, Ilalov K, Yu S, Xu K, Prazak L, et al. ADAMTS-7: a metalloproteinase that directly binds to and degrades cartilage oligomeric matrix protein. FASEB J. 2006;20:988-90. (Pubitemid 44961989)
46. Wang L, Zheng J, Bai X, Liu B, Liu C-J, Xu Q, et al. ADAMTS-7 mediates vascular smooth muscle cell migration and neointima formation in balloon-injured rat arteries. Circ Res. 2009;104:688-98.
47. •• Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature. 2010;466:714-9. This study identified the mechanism by which the SORT1 locus is increasing blood lipid levels.
48. 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;34:154-6. (Pubitemid 36666925)
49. Brautbar A, Ballantyne CM. Pharmacological strategies for lowering LDL cholesterol: statins and beyond. Nat Rev Cardiol. 2011;8:253-65.
50. Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP. Effect of mutations in the PCSK9 gene on the cell surface LDL receptors. Hum Mol Genet. 2006;15:1551-8.
51. Cohen JC, Boerwinkle E, Mosley TH, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354:1264-72.
52. Giugliano RP, Desai NR, Kohli P, Rogers WJ, Somaratne R, Huang F, et al. Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): a randomised, placebo-controlled, dose-ranging, phase 2 study. Lancet. 2012;380:2007-17.