Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record

BMC Cardiovascular Disorders

Volumn 11, Issue , 2011, Pages

  Ding, Keyue ^a   Bailey, Kent R ^a   Kullo, Iftikhar J ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN;

ADULT; AGE; ALLELE; ARTICLE; BLOOD PRESSURE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; COMPUTER PROGRAM; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; ELECTRONIC MEDICAL RECORD; FEMALE; FRAMINGHAM RISK SCORE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE MAP; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; NORMAL HUMAN; PATIENT CODING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RISK ASSESSMENT; SEX; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; AGED; COHORT ANALYSIS; CORONARY ARTERY DISEASE; GENETICS; MIDDLE AGED; RISK FACTOR;

AGED; COHORT STUDIES; CORONARY DISEASE; ELECTRONIC HEALTH RECORDS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 82855175327     PISSN: None     EISSN: 14712261     Source Type: Journal    
DOI: 10.1186/1471-2261-11-66     Document Type: Article

References (39)

1. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, Jonasdottir A, Sigurdsson A, Baker A, Palsson A, Masson G, Gudbjartsson D, Magnusson K, Andersen K, Levey A, Backman V, Matthiasdottir S, Jonsdottir T, Palsson S, Einarsdottir H, Gunnarsdottir S, Gylfason A, Vaccarino V, Hooper W, Reilly M, Granger C, Austin H, Rader D, Shah S, Quyyumi A, Gulcher J, Thorgeirsson G, Thorsteinsdottir U, Kong A, Stefansson K. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007, 316(5830):1491-1493. 10.1126/science.1142842, 17478679.
2. 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(7145):661-678. 10.1038/nature05911, 2719288, 17554300, The Wellcome Trust Case Control Consortium.
3. Samani N, Erdmann J, Hall A, Hengstenberg C, Mangino M, Mayer B, Dixon R, Meitinger T, Braund P, Wichmann H, Barrett J, Konig I, Stevens S, Szymczak S, Tregouet D, Iles M, Pahlke F, Pollard H, Lieb W, Cambien F, Fischer M, Ouwehand W, Blankenberg S, Balmforth A, Baessler A, Ball S, Strom T, Braenne I, Gieger C, Deloukas P, Tobin M, Ziegler A, Thompson J, Schunkert H. Genomewide association analysis of coronary artery disease. N Engl J Med 2007, 357(5):443-453. 10.1056/NEJMoa072366, 2719290, 17634449.
4. Samani NJ, Deloukas P, Erdmann J, Hengstenberg C, Kuulasmaa K, McGinnis R, Schunkert H, Soranzo N, Thompson J, Tiret L, Ziegler A. Coronary Artery Disease Consortium Large scale association analysis of novel genetic loci for coronary artery disease. Arterioscler Thromb Vasc Biol 2009, 29(5):774-780. Coronary Artery Disease Consortium.
5. Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, Guiducci C, Burtt NP, Parish S, Clarke R, Zelenika D, Kubalanza KA, Morken MA, Scott LJ, Stringham HM, Galan P, Swift AJ, Kuusisto J, Bergman RN, Sundvall J, Laakso M, Ferrucci L, Scheet P, Sanna S, Uda M, Yang Q, Lunetta KL, Dupuis J, de Bakker PIW, O'Donnell CJ, Chambers JC, Kooner JS, Hercberg S, Meneton P, Lakatta EG, Scuteri A, Schlessinger D, Tuomilehto J, Collins FS, Groop L, Altshuler D, Collins R, Lathrop GM, Melander O, Salomaa V, Peltonen L, Orho-Melander M, Ordovas JM, Boehnke M, Abecasis GR, Mohlke KL, Cupples LA. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2009, 41:56-65. 10.1038/ng.291, 2881676, 19060906.
6. Gudbjartsson DF, Bjornsdottir US, Halapi E, Helgadottir A, Sulem P, Jonsdottir GM, Thorleifsson G, Helgadottir H, Steinthorsdottir V, Stefansson H, Williams C, Hui J, Beilby J, Warrington NM, James A, Palmer LJ, Koppelman GH, Heinzmann A, Krueger M, Boezen HM, Wheatley A, Altmuller J, Shin HD, Uh ST, Cheong HS, Jonsdottir B, Gislason D, Park CS, Rasmussen LM, Porsbjerg C, Hansen JW, Backer V, Werge T, Janson C, Jönsson UB, Ng MCY, Chan J, So WY, Ma R, Shah SH, Granger CB, Quyyumi AA, Levey AI, Vaccarino V, Reilly MP, Rader DJ, Williams MJA, van Rij AM, Jones GT, Trabetti E, Malerba G, Pignatti PF, Boner A, Pescollderungg L, Girelli D, Olivieri O, Martinelli N, Ludviksson BR, Ludviksdottir D, Eyjolfsson GI, Arnar D, Thorgeirsson G, Deichmann K, Thompson PJ, Wjst M, Hall IP, Postma DS, Gislason T, Gulcher J, Kong A, Jonsdottir I, Thorsteinsdottir U, Stefansson K. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet 2009, 41(3):342-347. 10.1038/ng.323, 19198610.
7. Willer C, Sanna S, Jackson A, Scuteri A, Bonnycastle L, Clarke R, Heath S, Timpson N, Najjar S, Stringham H, Strait J, Duren W, Maschio A, Busonero F, Mulas A, Albai G, Swift A, Morken M, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen W, Li Y, Scott L, Scheet P, Sundvall J, Watanabe R, Nagaraja R, Ebrahim S, Lawlor D, Ben-Shlomo Y, Davey-Smith G, Shuldiner A, Collins R, Bergman R, Uda M, Tuomilehto J, Cao A, Collins F, Lakatta E, Lathrop G, Boehnke M, Schlessinger D, Mohlke K, Abecasis G. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008, 40(2):161-169. 10.1038/ng.76, 18193043.
8. Erdmann J, Grosshennig A, Braund PS, König IR, Hengstenberg C, Hall AS, Linsel-Nitschke P, Kathiresan S, Wright B, Trégouët DA, Cambien F, Bruse P, Aherrahrou Z, Wagner AK, Stark K, Schwartz SM, Salomaa V, Elosua R, Melander O, Voight BF, O'Donnell CJ, Peltonen L, Siscovick DS, Altshuler D, Merlini PA, Peyvandi F, Bernardinelli L, Ardissino D, Schillert A, Blankenberg S, Zeller T, Wild P, Schwarz DF, Tiret L, Perret C, Schreiber S, Mokhtari NEE, Schäfer A, März W, Renner W, Bugert P, Klüter H, Schrezenmeir J, Rubin D, Ball SG, Balmforth AJ, Wichmann HE, Meitinger T, Fischer M, Meisinger C, Baumert J, Peters A, Ouwehand WH, , , , Deloukas P, Thompson JR, Ziegler A, Samani NJ, Schunkert H. Italian Atherosclerosis, Thrombosis, and Vascular Biology Working Group, Myocardial Infarction Genetics Consortium and Wellcome Trust Case Control Consortium, Consortium Cardiogenics New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009, 41(3):280-282. 10.1038/ng.307, 2695543, 19198612, Italian Atherosclerosis, Thrombosis, and Vascular Biology Working Group, Myocardial Infarction Genetics Consortium and Wellcome Trust Case Control Consortium, Consortium Cardiogenics.
9. Ding K, Kullo IJ. Genome-wide association studies for atherosclerotic vascular disease and its risk factors. Circ Cardiovasc Genet 2009, 2:63-72. 10.1161/CIRCGENETICS.108.816751, 2740629, 19750184.
10. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE. Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet 2009, 5(2):e1000337. 10.1371/journal.pgen.1000337, 2629574, 19197355.
11. Damani SB, Topol EJ. Future use of genomics in coronary artery disease. J Am Coll Cardiol 2007, 50(20):1933-1940. 10.1016/j.jacc.2007.07.062, 17996556.
12. Wray N, Goddard M, Visscher P. Prediction of individual genetic risk of complex disease. Curr Opin Genet Dev 2008, 18(3):257-263. 10.1016/j.gde.2008.07.006, 18682292.
13. Khoury MJ, McBride CM, Schully SD, Ioannidis JPA, Feero WG, Janssens ACJW, Gwinn M, Simons-Morton DG, Bernhardt JM, Cargill M, Chanock SJ, Church GM, Coates RJ, Collins FS, Croyle RT, Davis BR, Downing GJ, Duross A, Friedman S, Gail MH, Ginsburg GS, Green RC, Greene MH, Greenland P, Gulcher JR, Hsu A, Hudson KL, Kardia SLR, Kimmel PL, Lauer MS, Miller AM, Offit K, Ransohoff DF, Roberts JS, Rasooly RS, Stefansson K, Terry SF, Teutsch SM, Trepanier A, Wanke KL, Witte JS, Xu J. The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med 2009, 11(8):559-567. 10.1097/GIM.0b013e3181b13a6c, 2936269, 19617843.
14. Wilson P, D'Agostino R, Levy D, Belanger A, Silbershatz H, Kannel W. Prediction of coronary heart disease using risk factor categories. Circulation 1998, 97(18):1837-47.
15. Evaluation Expert Panel on Detection and Treatment of High Blood Cholesterol in Adults Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA 2001, 285(19):2486-2497. 10.1001/jama.285.19.2486, 11368702, Evaluation Expert Panel on Detection and Treatment of High Blood Cholesterol in Adults.
16. Talmud P, Cooper J, Palmen J, Lovering R, Drenos F, Hingorani A, Humphries S. Chromosome 9p21.3 coronary heart disease locus genotype and prospective risk of CHD in healthy middle-aged men. Clin Chem 2008, 54(3):467-474. 10.1373/clinchem.2007.095489, 18250146.
17. Paynter NP, Chasman DI, Buring JE, Shiffman D, Cook NR, Ridker PM. Cardiovascular disease risk prediction with and without knowledge of genetic variation at chromosome 9p21.3. Ann Intern Med 2009, 150(2):65-72. 2629586, 19153409.
18. Brautbar A, Ballantyne CM, Lawson K, Nambi V, Chambless L, Folsom AR, Willerson JT, Boerwinkle E. Impact of adding a single allele in the 9p21 locus to traditional risk factors on reclassification of coronary heart disease risk and implications for lipid-modifying therapy in the Atherosclerosis Risk in Communities study. Circ Cardiovasc Genet 2009, 2(3):279-285. 10.1161/CIRCGENETICS.108.817338, 2771929, 20031596.
19. Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt N, Roos C, Hirschhorn J, Berglund G, Hedblad B, Groop L, Altshuler D, Newton-Cheh C, Orho-Melander M. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med 2008, 358(12):1240-1249. 10.1056/NEJMoa0706728, 18354102.
20. Paynter NP, Chasman DI, Paré G, Buring JE, Cook NR, Miletich JP, Ridker PM. Association between a literature-based genetic risk score and cardiovascular events in women. JAMA 2010, 303(7):631-637. 10.1001/jama.2010.119, 2845522, 20159871.
21. Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, Guiducci C, Perola M, Jula A, Sinisalo J, Lokki ML, Nieminen MS, Melander O, Salomaa V, Peltonen L, Kathiresan S. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet 2010, 376(9750):1393-1400. 10.1016/S0140-6736(10)61267-6, 2965351, 20971364.
22. Kullo IJ, Fan J, Pathak J, Savova GK, Ali Z, Chute CG. Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease. J Am Med Inform Assoc 2010, 17(5):568-574. 10.1136/jamia.2010.004366, 2995686, 20819866.
23. Kullo IJ, Ding K, Jouni H, Smith CY, Chute CG. A genome-wide association study of red blood cell traits using the electronic medical record. PLoS ONE 2010, 5(9):e13011.
24. Kullo IJ, Cooper LT. Early identification of cardiovascular risk using genomics and proteomics. Nat Rev Cardiol 2010, 7(6):309-317. 10.1038/nrcardio.2010.53, 2939903, 20440292.
25. Turner S, Armstrong LL, Bradford Y, Carlson CS, Crawford DC, Crenshaw AT, Andrade MD, Doheny KF, nathan L, Haines J, Hayes G, Jarvik G, Jiang L, Kullo IJ, Li R, Ling H, Manolio TA, Matsumoto M, McCarty CA, McDavid AN, Mirel DB, Paschall JE, Pugh EW, Rasmussen LV, Wilke RA, Zuvich RL, Ritchie MD. Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet 2011, (68):1.19-19.18. Chapter 1:Unit1.19.
26. Li Y, Willer C, Sanna S, Abecasis G. Genotype imputation. Annual review of genomics and human genetics 2009, 10:387-406. 10.1146/annurev.genom.9.081307.164242, 2925172, 19715440.
27. MACH program. , http://www.sph.umich.edu/csg/abecasis/mach/index.html
28. Lin X, Song K, Lim N, Yuan X, Johnson T, Abderrahmani A, Vollenweider P, Stirnadel H, Sundseth SS, Lai E, Burns DK, Middleton LT, Roses AD, Matthews PM, Waeber G, Cardon L, Waterworth DM, Mooser V. Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score-the CoLaus Study. Diabetologia 2009, 52(4):600-608. 10.1007/s00125-008-1254-y, 19139842.
29. Risk Calculation in deCODEme. , http://www.decodeme.com/health-watch-information/risk-calculation
30. Thanassoulis G, Vasan RS. Genetic cardiovascular risk prediction: will we get there?. Circulation 2010, 122(22):2323-2334. 10.1161/CIRCULATIONAHA.109.909309, 21147729.
31. Yang Q, Flanders WD, Moonesinghe R, Ioannidis JPA, Guessous I, Khoury MJ. Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Am J Hum Genet 2009, 85(6):786-800. 10.1016/j.ajhg.2009.10.017, 2790579, 19931039.
32. Shiloh S. Decision-making in the context of genetic risk. The troubled helix: Social and psychological implications of the new human genetics 1996, 82-103. New York, NY: Cambridge: Cambridge University, Marteau T, Martin R, xvii.
33. The 23andMe website. , http://www.23andme.com
34. The deCODEme website. , http://www.decodeme.com
35. The Navigenics website. , http://www.navigenics.com
36. Genetic composite index in Navigenics. , http://www.navigenics.com/static/pdf/Navigenics-TheScience.pdf
37. Wacholder S, Hartge P, Prentice R, Garcia-Closas M, Feigelson HS, Diver WR, Thun MJ, Cox DG, Hankinson SE, Kraft P, Rosner B, Berg CD, Brinton LA, Lissowska J, Sherman ME, Chlebowski R, Kooperberg C, Jackson RD, Buckman DW, Hui P, Pfeiffer R, Jacobs KB, Thomas GD, Hoover RN, Gail MH, Chanock SJ, Hunter DJ. Performance of common genetic variants in breast-cancer risk models. N Engl J Med 2010, 362(11):986-993. 10.1056/NEJMoa0907727, 2921181, 20237344.
38. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008, 40(6):695-701. 10.1038/ng.f.136, 2527050, 18509313.
39. Family Healthware. , http://www.cdc.gov/genomics/famhistory/famhx.htm