European Journal of Internal Medicine
Volume 21, Issue 2 , Pages 74-78 , April 2010

Genome-wide association studies in atherothrombosis

Received 17 September 2009 ,Accepted 11 November 2009.

References 

  1. Lopez AD, Mathers CD, Ezzati M, Jamison DT, Murray CJ. Global and regional burden of disease and risk factors, 2001: systematic analysis of population health data. Lancet. 2006;367:1747–1757
  2. Kannel WB, Dawber TR, Kagan A, Revotskie N, Stokes J. Factors of risk in the development of coronary heart disease—six year follow-up experience. The Framingham Study. Ann Intern Med. 1961;55:33–50
  3. D'Agostino RB, Grundy S, Sullivan LM, Wilson P. Validation of the Framingham coronary heart disease prediction scores: results of a multiple ethnic groups investigation. JAMA. 2001;286:180–187
  4. Liu J, Hong Y, D'Agostino RB, Wu Z, Wang W, Sun J, et al. Predictive value for the Chinese population of the Framingham CHD risk assessment tool compared with the Chinese Multi-Provincial Cohort Study. JAMA. 2004;291:2591–2599
  5. Conroy RM, Pyörälä K, Fitzgerald AP, Sans S, Menotti A, De Backer G, et al. Estimation of ten-year risk of fatal cardiovascular disease in Europe: the SCORE project. Eur Heart J. 2003;24:987–1003
  6. Wilson PW, D'Agostino RB, Levy D, Belanger AM, Silbershatz H, Kannel WB. Prediction of coronary heart disease using risk factor categories. Circulation. 1998;97:1837–1847
  7. 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;364:937–952
  8. Sesso HD, Lee IM, Gaziano JM, Rexrode KM, Glynn RJ, Buring JE. Maternal and paternal history of myocardial infarction and risk of cardiovascular disease in men and women. Circulation. 2001;104:393–398
  9. Friedlander Y, Arbogast P, Schwartz SM, Marcovina SM, Austin MA, Rosendaal FR, et al. Family history as a risk factor for early onset myocardial infarction in young women. Atherosclerosis. 2001;156:201–207
  10. Rissanen AM. Familial occurrence of coronary heart disease: effect of age at diagnosis. Am J Cardiol. 1979;44:60–66
  11. Murabito JM, Pencina MJ, Nam BH, 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;294:3117–3123
  12. 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. 1994;330:1041–1046
  13. Wienke A, Herskind AM, Christensen K, Skytthe A, Yashin AI. The heritability of CHD mortality in Danish twins after controlling for smoking and BMI. Twin Res Hum Genet. 2005;8:53–59
  14. Atherosclerosis, Thrombosis, and Vascular Biology Italian Study Group. No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation. 2003;107:1117–1122
  15. Dichgans M. Genetics of ischaemic stroke. Lancet Neurol. 2007;6:149–161
  16. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921
  17. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature. 2006;444:444–454
  18. International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299–1320
  19. International HapMap Consortium. A second generation human haplotype map of over 3.1million SNPs. Nature. 2007;449:851–861
  20. Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med. 2009;360:1759–1768
  21. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005;6:95–108
  22. Morgan TM, Krumholz HM, Lifton RP, Spertus JA. Non validation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA. 2007;297:1551–1561
  23. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, et al. Apolipoprotein E: high-avidity binding to β-amyloid and increased frequency of type 4 allele in late-onset Alzheimer disease. Proc Natl Acad Sci USA. 1993;90:1977–1981
  24. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 1993;261:921–923
  25. Spreafico M, Peyvandi F, Foco L, Bernardinelli L, Duga S, Asselta S, et al. Factor V Leiden, but not prothrombin G20120A, is associated with premature myocardial infarction. Circulation. 2008;118:S_956
  26. Jones EY, Fugger L, Strominger JL, Siebold C. MHC class II proteins and disease: a structural perspective. Nat Rev Immunol. 2006;6:271–282
  27. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9:356–369
  28. The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661–678
  29. Hindorff, L.A., Junkins, H.A., Mehta, J.P., Manolio, T.A. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. [accessed 11/14/2009].
  30. 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;316:1488–1491
  31. 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;316:1491–1493
  32. 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;357:443–453
  33. Trégouët DA, 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;41:283–285
  34. Myocardial Infarction Genetics Consortium. Genome-wide association of early onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009;41:334–341
  35. 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;41:280–282
  36. Assimes TL, Knowles JW, Basu A, Iribarren C, Southwick A, Tang H, et al. Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet. 2008;17:2320–2328
  37. Shen GQ, Li L, Rao S, Abdullah KG, Ban JM, Lee BS, 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. 2008;28:360–365
  38. Hinohara K, Nakajima T, Takahashi M, Hohda S, Sasaoka T, Nakahara K, et al. Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations. J Hum Genet. 2008;53:357–359
  39. Zhou L, Zhang X, He M, Cheng L, Chen Y, Hu FB, et al. Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population. Arterioscler Thromb Vasc Biol. 2008;28:2085–2089
  40. Hiura Y, Fukushima Y, Yuno M, Sawamura H, Kokubo Y, Okamura T, et al. Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population. Circ J. 2008;72:1213–1217
  41. Maitra A, Dash D, John S, Sannappa PR, Das AP, Shanker J, et al. A common variant in chromosome 9p21 associated with coronary artery disease in Asian Indians. J Genet. 2009;88:113–118
  42. Helgadottir A, Thorleifsson G, Magnusson KP, Grétarsdottir 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;40:217–224
  43. Horne BD, Carlquist JF, Muhlestein JB, Bair TL, Anderson JL. Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease. Circ Cardiovasc Genet. 2008;1:85–92
  44. Ye S, Willeit J, Kronenberg F, Xu Q, Kiechl S. Association of genetic variation on chromosome 9p21 with susceptibility and progression of atherosclerosis: a population-based, prospective study. J Am Coll Cardiol. 2008;52:378–384
  45. Yamagishi K, Folsom AR, Rosamond WD, Boerwinkle E ARIC investigators. A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study. Eur Heart J. 2009;30:1222–1228
  46. Matarín M, Brown WM, Scholz S, et al. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol. 2007;6:414–420
  47. Yamada Y, Fuku N, Tanaka M, Aoyagi Y, Sawabe M, Metoki N, et al. Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study. Atherosclerosis. 2009;207:144–149
  48. Gretarsdottir S, Thorleifsson G, Manolescu A, Styrkarsdottir U, Helgadottir A, Gschwendtner A, et al. Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann Neurol. 2008;64:402–409
  49. Gudbjartsson DF, Arnar DO, Helgadottir A, Gretarsdottir S, Holm H, Sigurdsson A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature. 2007;448:353–357
  50. Gudbjartsson DF, Holm H, Gretarsdottir S, Thorleifsson G, Walters GB, Thorgeirsson G, et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet. 2009;41:876–878
  51. Ikram MA, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS, et al. Genomewide association studies of stroke. N Engl J Med. 2009;360:1718–1728
  52. Kraft P, Hunter DJ. Genetic risk prediction — are we there yet?. N Engl J Med. 2009;360(17):1701–1703
  53. Hirschhorn JN. Genomewide association studies — illuminating biologic pathways. N Engl J Med. 2009;360(17):1699–1701
  54. Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, et al. The diploid genome sequence of an Asian individual. Nature. 2008;456:60–65
  55. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872–876

PII: S0953-6205(09)00234-9

doi: 10.1016/j.ejim.2009.11.003

European Journal of Internal Medicine
Volume 21, Issue 2 , Pages 74-78 , April 2010