Genome-wide association studies of late-onset cardiovascular disease

Journal of Molecular and Cellular Cardiology

Volumn 83, Issue , 2015, Pages 131-141

  Smith, J Gustav ^a,b,c   Newton Cheh, Christopher ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c LUND UNIVERSITY   (Sweden)

Author keywords

Aging; Cardiovascular disease; Genome wide association study

Indexed keywords

NITRIC OXIDE; SORTILIN;

AORTA VALVE STENOSIS; ATRIAL FIBRILLATION; BRAIN ISCHEMIA; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CAROTID ARTERY DISEASE; CLINICAL TRIAL (TOPIC); CONGESTIVE CARDIOMYOPATHY; CORONARY ARTERY DISEASE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEART FAILURE; HEART REPOLARIZATION; HEART RHYTHM; HEART VENTRICLE FIBRILLATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LIPID METABOLISM; NONHUMAN; PATHOGENESIS; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SARCOMERE; SICK SINUS SYNDROME; SIGNAL TRANSDUCTION; SUDDEN CARDIAC DEATH; ANIMAL; ARTERY; CEREBROVASCULAR ACCIDENT; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEART; HEART ARRHYTHMIA; HEART INFARCTION; HUMAN GENOME; METABOLISM; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY;

AGE OF ONSET; ANIMALS; ARRHYTHMIAS, CARDIAC; ARTERIES; CORONARY ARTERY DISEASE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HEART; HUMANS; MYOCARDIAL INFARCTION; PHENOTYPE; SARCOMERES; STROKE;

EID: 84937968994     PISSN: 00222828     EISSN: 10958584     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2015.04.004     Document Type: Review

References (152)

1. Lozano R., Naghavi M., Foreman K., Lim S., Shibuya K., Aboyans V., et al. Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet 2012, 380:2095-2128.
2. Plenge R.M., Scolnick E.M., Altshuler D. Validating therapeutic targets through human genetics. Nat Rev Drug Discov 2013, 12:581-594.
3. Garber A.M. An uncertain future for cardiovascular drug development?. N Engl J Med 2009, 360:1169-1171.
4. Dadu R.T., Ballantyne C.M. Lipid lowering with PCSK9 inhibitors. Nat Rev Cardiol 2014, 11:563-575.
5. Gaudet D., Brisson D., Tremblay K., Alexander V.J., Singleton W., Hughes S.G., et al. Targeting APOC3 in the familial chylomicronemia syndrome. N Engl J Med 2014, 371:2200-2206.
6. Altshuler D., Daly M.J., Lander E.S. Genetic mapping in human disease. Science 2008, 322:881-888.
7. Lloyd-Jones D.M., Nam B.H., D'Agostino R.B., Levy D., Murabito J.M., Wang T.J., et al. Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: a prospective study of parents and offspring. JAMA 2004, 291:2204-2211.
8. Lubitz S.A., Yin X., Fontes J.D., Magnani J.W., Rienstra M., Pai M., et al. Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. JAMA 2010, 304:2263-2269.
9. Lee D.S., Pencina M.J., Benjamin E.J., Wang T.J., Levy D., O'Donnell C.J., et al. Association of parental heart failure with risk of heart failure in offspring. N Engl J Med 2006, 355:138-147.
10. Kiely D.K., Wolf P.A., Cupples L.A., Beiser A.S., Myers R.H. Familial aggregation of stroke. The Framingham study. Stroke 1993, 24:1366-1371.
11. Baird P.A., Sadovnick A.D., Yee I.M., Cole C.W., Cole L. Sibling risks of abdominal aortic aneurysm. Lancet 1995, 346:601-604.
12. Biddinger A., Rocklin M., Coselli J., Milewicz D.M. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg 1997, 25:506-511.
13. Bella J.N., Tang W., Kraja A., Rao D.C., Hunt S.C., Miller M.B., et al. Genome-wide linkage mapping for valve calcification susceptibility loci in hypertensive sibships: the hypertension genetic epidemiology network study. Hypertension 2007, 49:453-460.
14. Hindorff L.A., Sethupathy P., Junkins H.A., Ramos E.M., Mehta J.P., Collins F.S., et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 2009, 106:9362-9367.
15. Leslie R., O'Donnell C.J., Johnson A.D. GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database. Bioinformatics 2014, 30:i185-i194.
16. Broer L., Buchman A.S., Deelen J., Evans D.S., Faul J.D., Lunetta K.L., et al. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. J Gerontol A Biol Sci Med Sci 2015, 70:110-118.
17. Deelen J., Beekman M., Uh H.W., Broer L., Ayers K.L., Tan Q., et al. Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90years of age. Hum Mol Genet 2014, 23:4420-4432.
18. Deloukas P., Kanoni S., Willenborg C., Farrall M., Assimes T.L., Thompson J.R., et al. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet 2013, 45:25-33.
19. Escott-Price V., Bellenguez C., Wang L.S., Choi S.H., Harold D., Jones L., et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS ONE 2014, 9:e94661.
20. Smith J.G., Newton-Cheh C. Genome-wide association study in humans. Methods Mol Biol 2009, 573:231-258.
21. Klein R.J., Zeiss C., Chew E.Y., Tsai J.Y., Sackler R.S., Haynes C., et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
22. Maraganore D.M., de Andrade M., Lesnick T.G., Strain K.J., Farrer M.J., Rocca W.A., et al. High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet 2005, 77:685-693.
23. Herbert A.G., Gerry N.P., McQueen M.B., Heid I.M., Pfeufer A., Illig T., et al. A common genetic variant is associated with adult and childhood obesity. Science 2006, 312:279-283.
24. Arking D.E., Pfeufer A., Post W., Kao W.H., Newton-Cheh C., Ikeda M., et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet 2006, 38:644-651.
25. Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S., Daly M.J., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006, 314:1461-1463.
26. Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., Lindgren C.M., et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007, 316:889-894.
27. Saxena R., Voight B.F., Lyssenko V., Burtt N.P., de Bakker P.I., Chen H., et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007, 316:1331-1336.
28. McPherson R., Pertsemlidis A., Kavaslar N., Stewart A., Roberts R., Cox D.R., et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007, 316:1488-1491.
29. 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.
30. Lander E., Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995, 11:241-247.
31. Hirschhorn J.N., Lohmueller K., Byrne E., Hirschhorn K. A comprehensive review of genetic association studies. Genet Med 2002, 4:45-61.
32. Pe'er I., Yelensky R., Altshuler D., Daly M.J. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 2008, 32:381-385.
33. Dudbridge F., Gusnanto A. Estimation of significance thresholds for genomewide association scans. Genet Epidemiol 2008, 32:227-234.
34. Yang J., Manolio T.A., Pasquale L.R., Boerwinkle E., Caporaso N., Cunningham J.M., et al. Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet 2011, 43:519-525.
35. Mitchell G.F., Verwoert G.C., Tarasov K.V., Isaacs A., Smith A.V., Yasmin, et al. Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the aortagen consortium. Circ Cardiovasc Genet 2012, 5:81-90.
36. Tarasov K.V., Sanna S., Scuteri A., Strait J.B., Orru M., Parsa A., et al. COL4A1 is associated with arterial stiffness by genome-wide association scan. Circ Cardiovasc Genet 2009, 2:151-158.
37. Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M.C., et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007, 357:2687-2695.
38. Calling S., Ji J., Sundquist J., Sundquist K., Zoller B. Shared and non-shared familial susceptibility of coronary heart disease, ischemic stroke, peripheral artery disease and aortic disease. Int J Cardiol 2013, 168:2844-2850.
39. Murabito J.M., White C.C., Kavousi M., Sun Y.V., Feitosa M.F., Nambi V., et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet 2012, 5:100-112.
40. Tragante V., Doevendans P.A., Nathoe H.M., van der Graaf Y., Spiering W., Algra A., et al. The impact of susceptibility loci for coronary artery disease on other vascular domains and recurrence risk. Eur Heart J 2013, 34:2896-2904.
41. Gretarsdottir S., Baas A.F., Thorleifsson G., Holm H., den Heijer M., de Vries J.P., et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet 2010, 42:692-697.
42. Harrison S.C., Cooper J.A., Li K., Talmud P.J., Sofat R., Stephens J.W., et al. Association of a sequence variant in DAB2IP with coronary heart disease. Eur Heart J 2012, 33:881-888.
43. Thorgeirsson T.E., Geller F., Sulem P., Rafnar T., Wiste A., Magnusson K.P., et al. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. Nature 2008, 452:638-642.
44. Jones G.T., Bown M.J., Gretarsdottir S., Romaine S.P., Helgadottir A., Yu G., et al. A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm. Hum Mol Genet 2013, 22:2941-2947.
45. Helgadottir A., Thorleifsson G., Magnusson K.P., 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, 40:217-224.
46. van 't Hof F.N., Ruigrok Y.M., Baas A.F., Kiemeney L.A., Vermeulen S.H., Uitterlinden A.G., et al. Impact of inherited genetic variants associated with lipid profile, hypertension, and coronary artery disease on the risk of intracranial and abdominal aortic aneurysms. Circ Cardiovasc Genet 2013, 6:264-270.
47. Humphrey J.D., Milewicz D.M., Tellides G., Schwartz M.A. Cell biology. Dysfunctional mechanosensing in aneurysms. Science 2014, 344:477-479.
48. 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, 43:345-349.
49. Chan K., Patel R.S., Newcombe P., Nelson C.P., Qasim A., Epstein S.E., et al. Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis. J Am Coll Cardiol 2013, 61:957-970.
50. Ardissino D., Berzuini C., Merlini P.A., Mannuccio Mannucci P., Surti A., Burtt N., et al. Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction. J Am Coll Cardiol 2011, 58:426-434.
51. Reilly M.P., Li M., He J., Ferguson J.F., Stylianou I.M., Mehta N.N., 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: two genome-wide association studies. Lancet 2011, 377:383-392.
52. Jarinova O., Stewart A.F., Roberts R., Wells G., Lau P., Naing T., et al. Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus. Arterioscler Thromb Vasc Biol 2009, 29:1671-1677.
53. Holdt L.M., Beutner F., Scholz M., Gielen S., Gabel G., Bergert H., et al. ANRIL expression is associated with atherosclerosis risk at chromosome 9p21. Arterioscler Thromb Vasc Biol 2010, 30:620-627.
54. Cunnington M.S., Santibanez Koref M., Mayosi B.M., Burn J., Keavney B. Chromosome 9p21 SNPs associated with multiple disease phenotypes correlate with ANRIL expression. PLoS Genet 2010, 6:e1000899.
55. Motterle A., Pu X., Wood H., Xiao Q., Gor S., Ng F.L., et al. Functional analyses of coronary artery disease associated variation on chromosome 9p21 in vascular smooth muscle cells. Hum Mol Genet 2012, 21:4021-4029.
56. Visel A., Zhu Y., May D., Afzal V., Gong E., Attanasio C., et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 2010, 464:409-412.
57. Harismendy O., Notani D., Song X., Rahim N.G., Tanasa B., Heintzman N., et al. 9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response. Nature 2011, 470:264-268.
58. Almontashiri N.A., Fan M., Cheng B.L., Chen H.H., Roberts R., Stewart A.F. Interferon-gamma activates expression of p15 and p16 regardless of 9p21.3 coronary artery disease risk genotype. J Am Coll Cardiol 2013, 61:143-147.
59. Holdt L.M., Hoffmann S., Sass K., Langenberger D., Scholz M., Krohn K., et al. Alu elements in ANRIL non-coding RNA at chromosome 9p21 modulate atherogenic cell functions through trans-regulation of gene networks. PLoS Genet 2013, 9:e1003588.
60. Musunuru K., Strong A., Frank-Kamenetsky M., Lee N.E., Ahfeldt T., Sachs K.V., et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 2010, 466:714-719.
61. Gustafsen C., Kjolby M., Nyegaard M., Mattheisen M., Lundhede J., Buttenschon H., et al. The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion. Cell Metab 2014, 19:310-318.
62. Strong A., Patel K., Rader D.J. Sortilin and lipoprotein metabolism: making sense out of complexity. Curr Opin Lipidol 2014, 25:350-357.
63. Wilson C.M., Naves T., Saada S., Pinet S., Vincent F., Lalloue F., et al. The implications of sortilin/Vps10p domain receptors in neurological and human diseases. CNS neurol disord drug targets 2014, 13:1354-1365.
64. Fischer M., Broeckel U., Holmer S., Baessler A., Hengstenberg C., Mayer B., et al. Distinct heritable patterns of angiographic coronary artery disease in families with myocardial infarction. Circulation 2005, 111:855-862.
65. O'Donnell C.J., Kavousi M., Smith A.V., Kardia S.L., Feitosa M.F., Hwang S.J., et al. Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation 2011, 124:2855-2864.
66. Anttila V., Winsvold B.S., Gormley P., Kurth T., Bettella F., McMahon G., et al. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat Genet 2013, 45:912-917.
67. Debette S., Kamatani Y., Metso T.M., Kloss M., Chauhan G., Engelter S.T., et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. Nat Genet 2014, 47:78-83.
68. Ehret G.B., Munroe P.B., Rice K.M., Bochud M., Johnson A.D., Chasman D.I., et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011, 478:103-109.
69. Lieb W., Jansen H., Loley C., Pencina M.J., Nelson C.P., Newton-Cheh C., et al. Genetic predisposition to higher blood pressure increases coronary artery disease risk. Hypertension 2013, 61:995-1001.
70. Do R., Willer C.J., Schmidt E.M., Sengupta S., Gao C., Peloso G.M., et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 2013, 45:1345-1352.
71. Willer C.J., Schmidt E.M., Sengupta S., Peloso G.M., Gustafsson S., Kanoni S., et al. Discovery and refinement of loci associated with lipid levels. Nat Genet 2013, 45:1274-1283.
72. Clarke R., Peden J.F., Hopewell J.C., Kyriakou T., Goel A., Heath S.C., et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med 2009, 361:2518-2528.
73. Nordestgaard B.G., Palmer T.M., Benn M., Zacho J., Tybjaerg-Hansen A., Davey Smith G., et al. The effect of elevated body mass index on ischemic heart disease risk: causal estimates from a Mendelian randomisation approach. PLoS Med 2012, 9:e1001212.
74. Codd V., Nelson C.P., Albrecht E., Mangino M., Deelen J., Buxton J.L., et al. Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet 2013, 45:422-427.
75. Fitzpatrick A.L., Kronmal R.A., Gardner J.P., Psaty B.M., Jenny N.S., Tracy R.P., et al. Leukocyte telomere length and cardiovascular disease in the cardiovascular health study. Am J Epidemiol 2007, 165:14-21.
76. Interleukin-6 Receptor Mendelian Randomisation Analysis C The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet 2012, 379:1214-1224.
77. Voight B.F., Peloso G.M., Orho-Melander M., Frikke-Schmidt R., Barbalic M., Jensen M.K., et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 2012, 380:572-580.
78. Elliott P., Chambers J.C., Zhang W., Clarke R., Hopewell J.C., Peden J.F., et al. Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA 2009, 302:37-48.
79. van Meurs J.B., Pare G., Schwartz S.M., Hazra A., Tanaka T., Vermeulen S.H., et al. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr 2013, 98:668-676.
80. Sabater-Lleal M., Huang J., Chasman D., Naitza S., Dehghan A., Johnson A.D., et al. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. Circulation 2013, 128:1310-1324.
81. Casas J.P., Ninio E., Panayiotou A., Palmen J., Cooper J.A., Ricketts S.L., et al. PLA2G7 genotype, lipoprotein-associated phospholipase A2 activity, and coronary heart disease risk in 10 494 cases and 15 624 controls of European Ancestry. Circulation 2010, 121:2284-2293.
82. Palmer T.M., Nordestgaard B.G., Benn M., Tybjaerg-Hansen A., Davey Smith G., Lawlor D.A., et al. Association of plasma uric acid with ischaemic heart disease and blood pressure: mendelian randomisation analysis of two large cohorts. BMJ 2013, 347:f4262.
83. Stender S., Frikke-Schmidt R., Nordestgaard B.G., Grande P., Tybjaerg-Hansen A. Genetically elevated bilirubin and risk of ischaemic heart disease: three Mendelian randomization studies and a meta-analysis. J Intern Med 2013, 273:59-68.
84. Jansen H., Samani N.J., Schunkert H. Mendelian randomization studies in coronary artery disease. Eur Heart J 2014, 35:1917-1924.
85. Bezzina C.R., Pazoki R., Bardai A., Marsman R.F., de Jong J.S., Blom M.T., et al. Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat Genet 2010, 42:688-691.
86. Traylor M., Farrall M., Holliday E.G., Sudlow C., Hopewell J.C., Cheng Y.C., et al. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol 2012, 11:951-962.
87. Smith J.G., Melander O., Lovkvist H., Hedblad B., Engstrom G., Nilsson P., et al. Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study. Circ Cardiovasc Genet 2009, 2:159-164.
88. International Stroke Genetics C, Wellcome Trust Case Control C, Bellenguez C., Bevan S., Gschwendtner A., Spencer C.C., et al. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet 2012, 44:328-333.
89. Williams F.M., Carter A.M., Hysi P.G., Surdulescu G., Hodgkiss D., Soranzo N., et al. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol 2013, 73:16-31.
90. Kilarski L.L., Achterberg S., Devan W.J., Traylor M., Malik R., Lindgren A., et al. Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology 2014, 83:678-685.
91. Lovkvist H., Sjogren M., Hoglund P., Engstrom G., Jern C., Olsson S., et al. Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?. Eur J Neurol 2013, 20:1284-1291.
92. Dichgans M., Malik R., Konig I.R., Rosand J., Clarke R., Gretarsdottir S., et al. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke 2014, 45:24-36.
93. Holliday E.G., Maguire J.M., Evans T.J., Koblar S.A., Jannes J., Sturm J.W., et al. Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. Nat Genet 2012, 44:1147-1151.
94. Bis J.C., Kavousi M., Franceschini N., Isaacs A., Abecasis G.R., Schminke U., et al. Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. Nat Genet 2011, 43:940-947.
95. Ikram M.A., Seshadri S., Bis J.C., Fornage M., DeStefano A.L., Aulchenko Y.S., et al. Genomewide association studies of stroke. N Engl J Med 2009, 360:1718-1728.
96. Olsson S., Melander O., Jood K., Smith J.G., Lovkvist H., Sjogren M., et al. Genetic variant on chromosome 12p13 does not show association to ischemic stroke in 3 Swedish case-control studies. Stroke 2011, 42:214-216.
97. International Stroke Genetics C, Wellcome Trust Case-Control C Failure to validate association between 12p13 variants and ischemic stroke. N Engl J Med 2010, 362:1547-1550.
98. Smith N.L., Felix J.F., Morrison A.C., Demissie S., Glazer N.L., Loehr L.R., et al. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Circ Cardiovasc Genet 2010, 3:256-266.
99. Horne B.D., Rasmusson K.D., Alharethi R., Budge D., Brunisholz K.D., Metz T., et al. Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy. Circ Cardiovasc Genet 2011, 4:359-366.
100. Villard E., Perret C., Gary F., Proust C., Dilanian G., Hengstenberg C., et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J 2011, 32:1065-1076.
101. Stark K., Esslinger U.B., Reinhard W., Petrov G., Winkler T., Komajda M., et al. Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. PLoS Genet 2010, 6:e1001167.
102. Meder B., Ruhle F., Weis T., Homuth G., Keller A., Franke J., et al. A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy. Eur Heart J 2014, 35:1069-1077.
103. Wooten E.C., Hebl V.B., Wolf M.J., Greytak S.R., Orr N.M., Draper I., et al. Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy. Circ Cardiovasc Genet 2013, 6:10-18.
104. Norton N., Li D., Rieder M.J., Siegfried J.D., Rampersaud E., Zuchner S., et al. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet 2011, 88:273-282.
105. Dhandapany P.S., Sadayappan S., Xue Y., Powell G.T., Rani D.S., Nallari P., et al. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet 2009, 41:187-191.
106. Gudbjartsson D.F., Arnar D.O., Helgadottir A., Gretarsdottir S., Holm H., Sigurdsson A., et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007, 448:353-357.
107. Gudbjartsson D.F., Holm H., Gretarsdottir S., Thorleifsson G., Walters G.B., Thorgeirsson G., et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet 2009, 41:876-878.
108. Benjamin E.J., Rice K.M., Arking D.E., Pfeufer A., van Noord C., Smith A.V., et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet 2009, 41:879-881.
109. Ellinor P.T., Lunetta K.L., Glazer N.L., Pfeufer A., Alonso A., Chung M.K., et al. Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet 2010, 42:240-244.
110. Ellinor P.T., Lunetta K.L., Albert C.M., Glazer N.L., Ritchie M.D., Smith A.V., et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet 2012, 44:670-675.
111. Sinner M.F., Tucker N.R., Lunetta K.L., Ozaki K., Smith J.G., Trompet S., et al. Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation. Circulation 2014, 130:1225-1235.
112. Lubitz S.A., Lunetta K.L., Lin H., Arking D.E., Trompet S., Li G., et al. Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese. J Am Coll Cardiol 2014, 63:1200-1210.
113. Arking D.E., Junttila M.J., Goyette P., Huertas-Vazquez A., Eijgelsheim M., Blom M.T., et al. Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet 2011, 7:e1002158.
114. Smith J.G., Almgren P., Engstrom G., Hedblad B., Platonov P.G., Newton-Cheh C., et al. Genetic polymorphisms for estimating risk of atrial fibrillation: a literature-based meta-analysis. J Intern Med 2012, 272:573-582.
115. Husser D., Adams V., Piorkowski C., Hindricks G., Bollmann A. Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation. J Am Coll Cardiol 2010, 55:747-753.
116. Parvez B., Shoemaker M.B., Muhammad R., Richardson R., Jiang L., Blair M.A., et al. Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion. Heart Rhythm 2013, 10:849-855.
117. Parvez B., Vaglio J., Rowan S., Muhammad R., Kucera G., Stubblefield T., et al. Symptomatic response to antiarrhythmic drug therapy is modulated by a common single nucleotide polymorphism in atrial fibrillation. J Am Coll Cardiol 2012, 60:539-545.
118. Gore-Panter S.R., Hsu J., Hanna P., Gillinov A.M., Pettersson G., Newton D.W., et al. Atrial fibrillation associated chromosome 4q25 variants are not associated with PITX2c expression in human adult left atrial appendages. PLoS ONE 2014, 9:e86245.
119. Wang J., Klysik E., Sood S., Johnson R.L., Wehrens X.H., Martin J.F. Pitx2 prevents susceptibility to atrial arrhythmias by inhibiting left-sided pacemaker specification. Proc Natl Acad Sci U S A 2010, 107:9753-9758.
120. Mommersteeg M.T., Brown N.A., Prall O.W., de Gier-de Vries C., Harvey R.P., Moorman A.F., et al. Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium. Circ Res 2007, 101:902-909.
121. Smith J.G., Melander O., Sjogren M., Hedblad B., Engstrom G., Newton-Cheh C., et al. Genetic polymorphisms confer risk of atrial fibrillation in patients with heart failure: a population-based study. Eur J Heart Fail 2013, 15:250-257.
122. Holm H., Gudbjartsson D.F., Sulem P., Masson G., Helgadottir H.T., Zanon C., et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet 2011, 43:316-320.
123. Coffey S., Cox B., Williams M.J. The prevalence, incidence, progression, and risks of aortic valve sclerosis: a systematic review and meta-analysis. J Am Coll Cardiol 2014, 63:2852-2861.
124. Thanassoulis G., Campbell C.Y., Owens D.S., Smith J.G., Smith A.V., Peloso G.M., et al. Genetic associations with valvular calcification and aortic stenosis. N Engl J Med 2013, 368:503-512.
125. Arsenault B.J., Boekholdt S.M., Dube M.P., Rheaume E., Wareham N.J., Khaw K.T., et al. Lipoprotein(a) levels, genotype, and incident aortic valve stenosis: a prospective mendelian randomization study and replication in a case-control cohort. Circ Cardiovasc Genet 2014, 7:304-310.
126. Kamstrup P.R., Tybjaerg-Hansen A., Nordestgaard B.G. Elevated lipoprotein(a) and risk of aortic valve stenosis in the general population. J Am Coll Cardiol 2014, 63:470-477.
127. Otto C.M., Kuusisto J., Reichenbach D.D., Gown A.M., O'Brien K.D. Characterization of the early lesion of 'degenerative' valvular aortic stenosis. Histological and immunohistochemical studies. Circulation 1994, 90:844-853.
128. O'Brien K.D., Reichenbach D.D., Marcovina S.M., Kuusisto J., Alpers C.E., Otto C.M. Apolipoproteins B, (a), and E accumulate in the morphologically early lesion of 'degenerative' valvular aortic stenosis. Arterioscler Thromb Vasc Biol 1996, 16:523-532.
129. Martinsson A., Ostling G., Persson M., Sundquist K., Andersson C., Melander O., et al. Carotid plaque, intima-media thickness, and incident aortic stenosis: a prospective cohort study. Arterioscler Thromb Vasc Biol 2014, 34:2343-2348.
130. Smith J.G., Luk K., Schulz C.A., Engert J.C., Do R., Hindy G., et al. Association of low-density lipoprotein cholesterol-related genetic variants with aortic valve calcium and incident aortic stenosis. JAMA 2014, 312:1764-1771.
131. MacArthur D.G., Manolio T.A., Dimmock D.P., Rehm H.L., Shendure J., Abecasis G.R., et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014, 508:469-476.
132. Chakravarti A., Clark A.G., Mootha V.K. Distilling pathophysiology from complex disease genetics. Cell 2013, 155:21-26.
133. Odom D.T., Dowell R.D., Jacobsen E.S., Gordon W., Danford T.W., MacIsaac K.D., et al. Tissue-specific transcriptional regulation has diverged significantly between human and mouse. Nat Genet 2007, 39:730-732.
134. Tiscornia G., Vivas E.L., Izpisua Belmonte J.C. Diseases in a dish: modeling human genetic disorders using induced pluripotent cells. Nat Med 2011, 17:1570-1576.
135. Maurano M.T., Humbert R., Rynes E., Thurman R.E., Haugen E., Wang H., et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 2012, 337:1190-1195.
136. Consortium E.P. An integrated encyclopedia of DNA elements in the human genome. Nature 2012, 489:57-74.
137. The genotype-tissue expression (GTEx) project. Nat Genet 2013, 45:580-585.
138. Andersson R., Gebhard C., Miguel-Escalada I., Hoof I., Bornholdt J., Boyd M., et al. An atlas of active enhancers across human cell types and tissues. Nature 2014, 507:455-461.
139. Roadmap Epigenomics C., Kundaje A., Meuleman W., Ernst J., Bilenky M., Yen A., et al. Integrative analysis of 111 reference human epigenomes. Nature 2015, 518:317-330.
140. Spitz F., Furlong E.E. Transcription factors: from enhancer binding to developmental control. Nat Rev 2012, 13:613-626.
141. Collas P. The current state of chromatin immunoprecipitation. Mol Biotechnol 2010, 45:87-100.
142. Dekker J., Marti-Renom M.A., Mirny L.A. Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data. Nat Rev 2013, 14:390-403.
143. Collins F.S., Varmus H. A new initiative on precision medicine. N Engl J Med 2015, 372:793-795.
144. Stahl E.A., Raychaudhuri S., Remmers E.F., Xie G., Eyre S., Thomson B.P., et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 2010, 42:508-514.
145. Mega J.L., Stitziel N.O., Smith J.G., Chasman D.I., Caulfield M.J., Devlin J.J., et al. Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet 2015, 131. epub Mar 3.
146. Harrison S.C., Smith A.J., Jones G.T., Swerdlow D.I., Rampuri R., Bown M.J., et al. Interleukin-6 receptor pathways in abdominal aortic aneurysm. Eur Heart J 2013, 34:3707-3716.
147. Bown M.J., Jones G.T., Harrison S.C., Wright B.J., Bumpstead S., Baas A.F., et al. Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1. Am J Hum Genet 2011, 89:619-627.
148. Bradley D.T., Hughes A.E., Badger S.A., Jones G.T., Harrison S.C., Wright B.J., et al. A variant in LDLR is associated with abdominal aortic aneurysm. Circ Cardiovasc Genet 2013, 6:498-504.
149. Lemaire S.A., McDonald M.L., Guo D.C., Russell L., Miller C.C., Johnson R.J., et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet 2011, 43:996-1000.
150. Traylor M., Makela K.M., Kilarski L.L., Holliday E.G., Devan W.J., Nalls M.A., et al. A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PLoS Genet 2014, 10:e1004469.
151. Landenhed M., Engström G., Gottsäter A., Caulfield M.P., Hedblad B., Newton-Cheh C., et al. Risk profiles for aortic dissection and ruptured or surgically treated aneurysms: a prospective cohort study. J Am Heart Assoc 2015, 4. e001513.
152. Martinsson A., Li X., Andersson C, Nilsson J, Smith J.G. Sundquist K. Temporal trends in the incidence and prognosis of aortic stenosis: a nationwide study of theSwedish population. Circulation 2015, 131:988-994.