Genome-wide association studies of coronary artery disease and heart failure: Where are we going?

Pharmacogenomics

Volumn 10, Issue 2, 2009, Pages 213-223

  Dorn, Gerald W ^a   Cresci, Sharon ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Coronary artery disease; Genome wide association study; Genomics; Heart failure

Indexed keywords

ALPHA TROPOMYOSIN; ARACHIDONATE 5 LIPOXYGENASE ACTIVATING PROTEIN; BETA 2 ADRENERGIC RECEPTOR; CYCLIN DEPENDENT KINASE INHIBITOR 2A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LYMPHOTOXIN; MYOCYTE ENHANCER FACTOR 2; STROMAL CELL DERIVED FACTOR 1; TROPONIN; MESSENGER RNA;

CORONARY ARTERY DISEASE; CORONARY ARTERY RECANALIZATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE REPLICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEART FAILURE; HEART INFARCTION; HUMAN; LINKAGE ANALYSIS; PHENOTYPE; PROTEIN BLOOD LEVEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; ARTICLE; CHROMOSOME 21; CHROMOSOME MAP; CORONARY ARTERY OBSTRUCTION; ENZYMOLOGY; GENETICS; META ANALYSIS; METHODOLOGY;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; CORONARY DISEASE; CORONARY STENOSIS; GENOME-WIDE ASSOCIATION STUDY; HEART FAILURE; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; META-ANALYSIS AS TOPIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER;

EID: 65549139732     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/14622416.10.2.213     Document Type: Review

References (49)

1. Rosamond W, Flegal K, Furie K et al.: Heart disease and stroke statistics - 2008 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation 117(4), E25-E146 (2008).
2. Slack J, Evans KA: The increased risk of death from ischaemic heart disease in first degree relatives of 121 men and 96 women with ischaemic heart disease. J. Med. Genet. 3(4), 239-257 (1966).
3. Marenberg ME, Risch N, Berkman LF, Floderus B, de Faire U: Genetic susceptibility to death from coronary heart disease in a study of twins. N. Engl. J. Med. 330(15), 1041-1046 (1994).
4. Goldstein JL, Brown MS: Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. Proc. Natl Acad. Sci. USA 70(10), 2804-2808 (1973).
5. Goldstein JL, Dana SE, Brunschede GY, Brown MS: Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipopfotein receptor. Proc. Natl Acad. Sci. USA 72(3), 1092-1096 (1975).
6. Brown MS, Goldstein JL: Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man. Science 185(4145), 61-63 (1974).
7. Ridker PM, Hennekens CH, Buring JE, Rifai N: C-reactive protein and other markers of inflammation in the prediction of cardiovascular disease in women. N. Engl. J. Med. 342(12), 836-843 (2000).
8. Ridker PM, Stampfer MJ, Rifai N: Novel risk factors for systemic atherosclerosis: a comparison of C-reactive protein, fibrinogen, homocysteine, lipoprotein(a), and standard cholesterol screening as predictors of peripheral arterial disease. JAMA 285(19) 2481-2485 (2001).
9. Peyser PA, Bielak LF, Chu JS et al.: Heritability of coronary artery calcium quantity measured by electron beam computed tomography in asymptomatic adults. Circulation 106(3), 304-308 (2002).
10. Burkett EL, Hershberger RE: Clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 45(7), 969-981 (2005).
11. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280(5364), 750-752 (1998).
12. Levy S, Sutton G, Ng PC et al.: The diploid genome sequence of an individual human. PLoS Biol. 5(10), E254 (2007).
13. Wheeler DA, Srinivasan M, Egholm M et al.: The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189), 872-876 (2008).
14. Topol EJ, Frazer KA: The resequencing imperative. Nat. Genet. 39(4), 439-440 (2007).
15. Yasuda K, Miyake K, Horikawa Y et al.: Variants in KCXQ1 are associated with susceptibility to Type 2 diabetes mellitus. Nat. Genet. 40, 1092-1097 (2008).
16. Cauchi S, El Achhaby Y, Choquet H et al.: TCF7L2 is reproducibly associated with Type 2 diabetes in various ethnic groups: a global meta-analysis. J. Mol. Med. 85(7), 777-782 (2007).
17. Cauchi S, Froguel P: TCF7L2 genetic defect and Type 2 diabetes. Curr. Diab. Rep. 8(2), 149-155 (2008).
18. Unoki H, Takahashi A, Kawaguchi T et al.: SNPs in KCNQ1 are associated with susceptibility to Type 2 diabetes in East Asian and European populations. Nat. Genet. 40, 1098-1102 (2008).
19. Easton DF, Pooley KA, Dunning AM et al.: Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447(7148), 1087-1093 (2007).
20. Hunter DJ, Kraft P, Jacobs KB et al.: A genome-wide association study identifies alleles in FGRR2 associated with risk of sporadic postmenopausal breast cancer. Nat. Genet. 39(7), 870-874 (2007).
21. Gudmundsson J, Sulem P, Manolescu A et al.: Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat. Genet. 39(5), 631-637 (2007).
22. Burkhardt R, Kenny EE, Lowe JK et al.: Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exonl3. Arterioscler. Thromb. Vasc. Biol. 28(11), 2078-2084 (2008).
23. Willer CJ, Sanna S, Jackson AU et al.: Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat. Genet. 40(2), 161-169 (2008).
24. Kathiresan S, Willer CJ, Peloso GM et al.: Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41(1), 56-65 (2008).
25. Aulchenko YS, Ripatti S, Lindqvist I et al.: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat. Genet. 41(1), 47-55 (2008).
26. Samani NJ, Burton P, Mangino M et al.: A genomewide linkage study of 1,933 familie affected by premature coronary artery disease: The British Heart Foundation (BHF Family Heart Study. Am. J. Hum. Genet. 77(6), 1011-1020 (2005).
27. Ozaki K, Ohnishi Y, Iida A et al.: Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction. Nat. Genet. 32(4), 650-654 (2002).
28. Helgadottir A, Manolescu A, Thorleifsson G et al.: The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat. Genet. 36(3), 233-239 (2004).
29. Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases ofseven common diseases and 3,000 shared controls. Nature 447(7145), 661-678 (2007).
30. Hinohara Y, Nakajima T, Takahashi M et al.: Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations. J. Hum. Genet. 53(4), 357-359 (2008).
31. Singh NN, Ramji DP: The role of transforming growth factor-β in atherosclerosis. Cytokine Growth Factor Rev. 17(6), 487-499 (2006).
32. Greenland P, Knoll MD, Stamler J et al.: Major risk factors as antecedents of fatal and nonfatal coronary heart disease events. JAMA 290(7), 891-897 (2003).
33. McPherson R, Pertsemlidis A, Kavaslar N et al.: A common allele on chromosome 9 associated with coronary heart disease. Science 316(5830), 1488-1491 (2007).
34. 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. 40(2), 217-224 (2008).
35. Zuchner S, Gilbert JR, Martin ER et al.: Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3. Ann. Hum. Genet. 72(Pt 6), 725-731 (2008).
36. Helgadottir A, Thorleifsson G, Manolescu A et al.: A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316(5830), 1491-1493 (2007).
37. Samani NJ, Erdmann J, Hall AS et al.: Genomewide association analysis of coronary artery disease. N. Engl. J. Med. 357(5), 443-453 (2007).
38. Schunkert H, Gotz A, Braund P et al.: Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation 117(13), 14675-1684 (2008).
39. Shen GQ, Li L, Rao S et al.: Four SNPs on chromosome 9p21 in a South Korean population implicate a genetic locus that confers high cross-race risk for development of coronary artery disease. Arterioscler. Thromb. Vasc. Biol. 28(2), 360-365 (2008).
40. Shen GQ, Rao S, Martinelli N et al.: Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population. J. Hum. Genet. 53(2), 144-150 (2008).
41. Abdullah KG, Li L, Shen GQ et al.: Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest). Ann. Hum. Genet. 72(Pt 5), 654-657 (2008).
42. van der Net JB, Oosterveer DM, Versmissen J et al.: Replication study of 10 genetic polymorpbisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia. Eur. Heart J. 29(18), 2195-2201 (2008).
43. Broadbent HM, Peden JF, Lorkowski S et al.: Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum. Mol. Genet. 17(6), 806-814 (2008).
44. Ellinor PT, Sasse-Klaassen S, Probst S et al.: A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. J. Am. Coll. Cardiol. 48(1), 106-111 (2006).
45. Song L, DePalma SR, Kharlap M et al.: Novel locus for an inherited cardiomyopathy maps to chromosome 7. Circulation 113(18), 2186-2192 (2006).
46. Rampazzo A, Nava A, Erne P et al.: A new locus for arrhythmogenic right ventricular cardiornyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Mol. Genet. 4(11), 2151-2154 (1995).
47. Tiso N, Stephan DA, Nava A et al.: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy Type 2 (ARVD2). Hum. Mol. Genet. 10(3), 189-194 (2001).
48. Larson MG, Atwood LD, Benjamin EJ et al.: Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. BMC Med. Genet. 8(Suppl. 1), S5 (2007).
49. Keating BJ, Tischfield S, Murray SS et al.: Concept, design and implementation of a cardiovascular gene-centric 50K SNP array for large-scale genomic association studies. PLoS ONE 3(10), E3583 (2008).