Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease
Open accessAbstract
Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through which the novel variants could affect CAD risk were explored through association tests with vascular risk factors and gene expression. We confirmed associations of several previously known CAD susceptibility loci (eg, 9p21.3:p<10(-33); LPA:p<10(-19); 1p13.3:p<10(-17)) as well as three recently discovered loci (COL4A1/COL4A2, ZC3HC1, CYP17A1:p<5×10(-7)). However, we found essentially null results for most previously suggested CAD candidate genes. In our replication study of 24 promising common variants, we identified novel associations of variants in or near LIPA, IL5, TRIB1, and ABCG5/ABCG8, with per-allele odds ratios for CAD risk with each of the novel variants ranging from 1.06-1.09. Associations with variants at LIPA, TRIB1, and ABCG5/ABCG8 were supported by gene expression data or effects on lipid levels. Apart from the previously reported variants in LPA, none of the other ∼4,500 low frequency and functional variants showed a strong effect. Associations in South Asians did not differ appreciably from those in Europeans, except for 9p21.3 (per-allele odds ratio: 1.14 versus 1.27 respectively; P for heterogeneity = 0.003). This large-scale gene-centric analysis has identified several novel genes for CAD that relate to diverse biochemical and cellular functions and clarified the literature with regard to many previously suggested genes.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Genomewide association analyses since 2007 have identified more than 50 independent loci associated with coronary artery disease risk.
“Since 2007, genomewide association analyses have identified more than 50 independent loci associated with the risk of coronary artery disease.7–15”
From Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease (2016) · cites this paper as [13]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Inflammation, Atherosclerosis, and Coronary Artery Disease
Hansson, G. K. (2005) · New England Journal of Medicine · doi:10.1056/nejmra043430 · Cited by 8,773 · see citing works
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013 · see citing works
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,487 · see citing works
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · see citing works
Genomewide Association Analysis of Coronary Artery Disease
Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa072366 · Cited by 2,044 · see citing works
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Cardiogenics, Schunkert, H., the CARDIoGRAM Consortium, König, I. R., Kathiresan, S., Reilly, M. P., Assimes, T. L., Holm, H., Preuss, M., Stewart, A. F. R., et al. (2011) · Nature Genetics · doi:10.1038/ng.784 · Cited by 1,866 · see citing works
Wellcome Trust Case Control Consortium, Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T., de Bakker, P. I., Abecasis, G. R., Almgren, P., et al. (2008) · Nature Genetics · doi:10.1038/ng.120 · Cited by 1,864 · see citing works
Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
Clarke, R., Peden, J. F., Hopewell, J. C., Kyriakou, T., Goel, A., Heath, S. C., Parish, S., Barlera, S., Franzosi, M. G., Rust, S., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0902604 · Cited by 1,671 · see citing works
Berge, K. E., Tian, H., Graf, G. A., Yu, L., Grishin, N. V., Schultz, J. R., Kwiterovich, P. O., Shan, B., Barnes, R., & Hobbs, H. H. (2000) · Science · doi:10.1126/science.290.5497.1771 · Cited by 1,645 · see citing works
A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonasdottir, A., Jonasdottir, A., Sigurdsson, A., Baker, A., Palsson, A., et al. (2007) · Science · doi:10.1126/science.1142842 · Cited by 1,594 · see citing works
A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science · doi:10.1126/science.1142447 · Cited by 1,587 · see citing works
Genome-wide association study identifies eight loci associated with blood pressure
Wellcome Trust Case Control Consortium, Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M. D., Bochud, M., Coin, L., Najjar, S. S., Zhao, J. H., Heath, S. C., et al. (2009) · Nature Genetics · doi:10.1038/ng.361 · Cited by 1,215 · see citing works
Myocardial Infarction Genetics Consortium (2009) · Nature Genetics · doi:10.1038/ng.327 · Cited by 1,088 · see citing works
The Coronary Artery Disease (C4D) Genetics Consortium (2011) · Nature Genetics · doi:10.1038/ng.782 · Cited by 674 · see citing works
Reilly, M. P., Li, M., He, J., Ferguson, J. F., Stylianou, I. M., Mehta, N. N., Burnett, M. S., Devaney, J. M., Knouff, C. W., Thompson, J. R., et al. (2011) · The Lancet · doi:10.1016/s0140-6736(10)61996-4 · Cited by 539 · see citing works
A Common Allele on Chromosome 9 Associated With Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A. F. R., Roberts, R., Cox, D., Hinds, D. A., Pennacchio, L. A., Tybjærg‐Hansen, A., Folsom, A. R., et al. (2007) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000279314.45442.bb · Cited by 524 · see citing works
New susceptibility locus for coronary artery disease on chromosome 3q22.3
Italian Atherosclerosis, T., Erdmann, J., Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Cardiogenics Consortium, Großhennig, A., Braund, P. S., König, I. R., Hengstenberg, C., Hall, A. S., et al. (2009) · Nature Genetics · doi:10.1038/ng.307 · Cited by 484 · see citing works
Trégouët, D., König, I. R., Erdmann, J., Munteanu, A., Braund, P. S., Hall, A. S., Großhennig, A., Linsel‐Nitschke, P., Perret, C., DeSuremain, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.314 · Cited by 474 · see citing works
Binder, C. J., Hartvigsen, K., Chang, M.-K., Miller, M., Broide, D. H., Palinski, W., Curtiss, L. K., Corr, M., & Witztum, J. L. (2004) · Journal of Clinical Investigation · doi:10.1172/jci20479 · Cited by 451 · see citing works
Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease
Waterworth, D. M., Ricketts, S. L., Song, K., Chen, L., Zhao, J. H., Ripatti, S., Aulchenko, Y. S., Zhang, W., Yuan, X., Lim, N., et al. (2010) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.109.201020 · Cited by 405 · see citing works
Keating, B. J., Tischfield, S. E., Murray, S. S., Bhangale, T., Price, T. S., Glessner, J., Galver, L., Barrett, J. C., Grant, S. F. A., Farlow, D., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003583 · Cited by 370 · see citing works
Cohort Profile: The EPIC-NL study
Beulens, J. W. J., Monninkhof, E. M., Verschuren, W. M. M., van der Schouw, Y. T., Smit, J., Ocké, M. C., Jansen, E. H. J. M., van Dieren, S., Grobbee, D. E., Peeters, P. H. M., et al. (2009) · International Journal of Epidemiology · doi:10.1093/ije/dyp217 · Cited by 205 · see citing works
Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease
Teupser, D., Baber, R., Ceglarek, U., Scholz, M. R., Illig, T., Gieger, C., Holdt, L. M., Leichtle, A. B., Greiser, K. H., Hüster, D., et al. (2010) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.109.907873 · Cited by 168 · see citing works
Tribbles: A family of kinase-like proteins with potent signalling regulatory function
Hegedüs, Z., Czibula, Á., & Kiss‐Toth, E. (2006) · Cellular Signalling · doi:10.1016/j.cellsig.2006.06.010 · Cited by 156 · see citing works
A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease
Wild, P. S., Zeller, T., Schillert, A., Szymczak, S., Sinning, C., Deiseroth, A., Schnabel, R. B., Lubos, E., Keller, T., Eleftheriadis, M. S., et al. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.958728 · Cited by 153 · see citing works
Burkhardt, R., Toh, S. A., Lagor, W. R., Birkeland, A. C., Levin, M. G., Li, X., Robblee, M. M., Fedorov, V. D., Yamamoto, M., Satoh, T., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci44213 · Cited by 150 · see citing works
Erdmann, J., Willenborg, C., Nahrstaedt, J., Preuss, M. H., König, I. R., Baumert, J. J., Linsel‐Nitschke, P., Gieger, C., Tennstedt, S., Belcredi, P., et al. (2010) · European Heart Journal · doi:10.1093/eurheartj/ehq405 · Cited by 143 · see citing works
What is the risk of coronary heart disease in South Asians? A review of UK research
Bhopal, R. (2000) · Journal of Public Health · doi:10.1093/pubmed/22.3.375 · Cited by 103 · see citing works
Adaptive T cell immune responses and atherogenesis
Taleb, S., Tedgui, A., & Mallat, Z. (2010) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2010.02.003 · Cited by 91 · see citing works
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
Pisciotta, L., Fresa, R., Bellocchio, A., Pino, E., Guido, V., Cantàfora, A., Rocco, M. D., Calandra, S., & Bertolini, S. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.02.007 · Cited by 79 · see citing works
Sämpi, M., Ukkola, O. H., Päivänsalo, M. J., Kesäniemi, Y. A., Binder, C. J., & Hörkkö, S. (2008) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2008.06.047 · Cited by 76 · see citing works
Association of the 9p21.3 Locus With Risk of First-Ever Myocardial Infarction in Pakistanis
Saleheen, D., Alexander, M., Rasheed, A., Wormser, D., Soranzo, N., Hammond, N., Butterworth, A. S., Zaidi, M. A., Haycock, P., Bumpstead, S., et al. (2010) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.109.197210 · Cited by 55 · see citing works
Mehta, N. N. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.111.960989 · Cited by 38 · see citing works
Flagged first, then by citations
1 of the 36 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
the CARDIoGRAMplusC4D Consortium (2015) · Nature Genetics · doi:10.1038/ng.3396 · Cited by 2,447 · see citing works
Self-citationLarge-scale association analysis identifies new risk loci for coronary artery disease
The CARDIoGRAMplusC4D Consortium, Deloukas, P., DIAGRAM Consortium, CARDIOGENICS Consortium, MuTHER Consortium, Wellcome Trust Case Control Consortium, Kanoni, S., Willenborg, C., Farrall, M., Assimes, T. L., et al. (2013) · Nature Genetics · doi:10.1038/ng.2480 · Cited by 1,614 · see citing works
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease
Khera, A. V., Emdin, C. A., Drake, I., Natarajan, P., Bick, A. G., Cook, N. R., Chasman, D. I., Baber, U., Mehran, R., Rader, D. J., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1605086 · Cited by 1,460 · see citing works
The immunology of atherosclerosis
Gisterå, A., & Hansson, G. K. (2017) · Nature Reviews Nephrology · doi:10.1038/nrneph.2017.51 · Cited by 982 · see citing works
Ference, B. A., Yoo, W., Alesh, I., Mahajan, N., Mirowska, K. K., Mewada, A., Kahn, J., Afonso, L., Williams, K. A., & Flack, J. M. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.09.017 · Cited by 898 · see citing works
(2012) · The Lancet · doi:10.1016/s0140-6736(11)61931-4 · Cited by 823 · see citing works
Genetics of coronary artery disease: discovery, biology and clinical translation
Khera, A. V., & Kathiresan, S. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.160 · Cited by 659 · see citing works
Foley, C. N., Staley, J. R., Breen, P. G., Sun, B. B., Kirk, P., Burgess, S., & Howson, J. M. M. (2021) · Nature Communications · doi:10.1038/s41467-020-20885-8 · Cited by 542 · see citing works
Gylling, H., Plat, J., Turley, S., Ginsberg, H. N., Ellegård, L., Jessup, W., Jones, P. J., Lütjohann, D., Maerz, W., Masana, L., et al. (2014) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2013.11.043 · Cited by 529 · see citing works
Genetics of Human Cardiovascular Disease
Kathiresan, S., & Srivastava, D. (2012) · Cell · doi:10.1016/j.cell.2012.03.001 · Cited by 496 · see citing works
Inflammation in atherosclerosis
Taleb, S. (2016) · Archives of cardiovascular diseases · doi:10.1016/j.acvd.2016.04.002 · Cited by 376 · see citing works
A decade of genome-wide association studies for coronary artery disease: the challenges ahead
Erdmann, J., Kessler, T., Venegas, L. M., & Schunkert, H. (2018) · Cardiovascular Research · doi:10.1093/cvr/cvy084 · Cited by 320 · see citing works
Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction
Reiner, Ž., Guardamagna, O., Nair, D. R., Soran, H., Hovingh, K., Bertolini, S., Jones, S. A., Ćorić, M., Calandra, S., Hamilton, J. B., et al. (2014) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2014.04.003 · Cited by 315 · see citing works
Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms
CARDIoGRAMplusC4D, Howson, J. M. M., EPIC-CVD, Zhao, W., Barnes, D. R., Ho, W.-K., Young, R., Paul, D. S., Waite, L. L., Freitag, D. F., et al. (2017) · Nature Genetics · doi:10.1038/ng.3874 · Cited by 304 · see citing works
B Cells and Humoral Immunity in Atherosclerosis
Tsiantoulas, D., Diehl, C. J., Witztum, J. L., & Binder, C. J. (2014) · Circulation Research · doi:10.1161/circresaha.113.301145 · Cited by 297 · see citing works
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L., Lanktree, M. B., Tare, A., Castillo, B. A., Li, Y. R., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.022 · Cited by 268 · see citing works
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
Asselbergs, F. W., Guo, Y., van Iperen, E. P. A., Sivapalaratnam, S., Tragante, V., Lanktree, M. B., Lange, L. A., Almoguera, B., Appelman, Y., Barnard, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.032 · Cited by 247 · see citing works
Genetics of coronary artery disease and myocardial infarction
Dai, X. (2016) · World Journal of Cardiology · doi:10.4330/wjc.v8.i1.1 · Cited by 226 · see citing works
Holmes, M. V., Lange, L. A., Palmer, T., Lanktree, M. B., North, K. E., Almoguera, B., Buxbaum, S., Chandrupatla, H. R., Elbers, C. C., Guo, Y., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.12.014 · Cited by 216 · see citing works
Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome
Charchar, F. J., Bloomer, L. D. S., Barnes, T. A., Cowley, M. J., Nelson, C. P., Wang, Y., Denniff, M. J., Dębiec, R., Christofidou, P., Nankervis, S. A., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(11)61453-0 · Cited by 216 · see citing works
Lysosomal Acid Lipase in Lipid Metabolism and Beyond
Li, F., & Zhang, H. (2019) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.119.312136 · Cited by 185 · see citing works
Kessler, T., Vilne, B., & Schunkert, H. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201506174 · Cited by 172 · see citing works
Tragante, V., Barnes, M. R., Ganesh, S. K., Lanktree, M. B., Guo, W., Franceschini, N., Smith, E. N., Johnson, T., Holmes, M. V., Padmanabhan, S., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.12.016 · Cited by 168 · see citing works
Coronary artery disease in Bangladesh: A review
Islam, A. K. M. M., & Majumder, A. A. S. (2013) · Indian Heart Journal · doi:10.1016/j.ihj.2013.06.004 · Cited by 165 · see citing works
The role of T and B cells in human atherosclerosis and atherothrombosis
Ammirati, E., Moroni, F., Magnoni, M., & Camici, P. G. (2014) · Clinical & Experimental Immunology · doi:10.1111/cei.12477 · Cited by 157 · see citing works
Genes and Coronary Artery Disease
Roberts, R., & Stewart, A. F. R. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.12.062 · Cited by 157 · see citing works
Loci influencing blood pressure identified using a cardiovascular gene-centric array
Ganesh, S. K., Tragante, V., Guo, W., Guo, Y., Lanktree, M. B., Smith, E. N., Johnson, T., Castillo, B. A., Barnard, J., Baumert, J. J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/dds555 · Cited by 148 · see citing works
Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism
Dubland, J. A., & Francis, G. A. (2015) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2015.00003 · Cited by 143 · see citing works
Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour
Peden, J. F., & Farrall, M. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr384 · Cited by 142 · see citing works
Genetics of Coronary Artery Disease
Roberts, R. (2014) · Circulation Research · doi:10.1161/circresaha.114.302692 · Cited by 141 · see citing works
Atherosclerosis and Alzheimer - diseases with a common cause? Inflammation, oxysterols, vasculature
Lathe, R., Tsitrina, A. A., & Kotelevtsev, Y. V. (2014) · BMC Geriatrics · doi:10.1186/1471-2318-14-36 · Cited by 136 · see citing works
Genetics: Implications for Prevention and Management of Coronary Artery Disease
Assimes, T. L., & Roberts, R. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.10.039 · Cited by 116 · see citing works
Silbernagel, G., Chapman, M. J., Genser, B., Kleber, M. E., Fauler, G., Scharnagl, H., Grammer, T. B., Boehm, B. O., Mäkelä, K.-M., Kähönen, M. A. P., et al. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.01.100 · Cited by 117 · see citing works
Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies
Zhang, H. (2018) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000507 · Cited by 114 · see citing works
Advances in Blood Pressure Genomics
Munroe, P. B., Barnes, M. R., & Caulfield, M. J. (2013) · Circulation Research · doi:10.1161/circresaha.112.300387 · Cited by 113 · see citing works
The Mammalian Tribbles Homolog TRIB3, Glucose Homeostasis, and Cardiovascular Diseases
Prudente, S., Sesti, G., Pandolfi, A., Andreozzi, F., Consoli, A., & Trischitta, V. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1042 · Cited by 111 · see citing works
The genetics of familial combined hyperlipidaemia
Brouwers, M. C. G. J., van Greevenbroek, M. M. J., Stehouwer, C. D. A., de Graaf, J., & Stalenhoef, A. F. H. (2012) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2012.15 · Cited by 109 · see citing works
Coronary Artery Disease Genetics Enlightened by Genome-Wide Association Studies
Kessler, T., & Schunkert, H. (2021) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2021.04.001 · Cited by 105 · see citing works
Holdt, L. M., & Teupser, D. (2018) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2018.00145 · Cited by 105 · see citing works
Scott, S. A., Liu, B., Nazarenko, I. A., Martis, S., Kozlitina, J., Yang, Y., Ramirez, C. M., Kasai, Y., Hyatt, T., Peter, I., et al. (2013) · Hepatology · doi:10.1002/hep.26327 · Cited by 103 · see citing works
Identification of CAD candidate genes in GWAS loci and their expression in vascular cells
Erbilgin, A., Civelek, M., Romanoski, C. E., Pan, C., Hagopian, R., Berliner, J. A., & Lusis, A. J. (2013) · Journal of Lipid Research · doi:10.1194/jlr.m037085 · Cited by 100 · see citing works
Impact of Apolipoprotein(a) Isoform Size on Lipoprotein(a) Lowering in the HPS2-THRIVE Study
Parish, S., Hopewell, J. C., Hill, M. R., Marcovina, S., Valdes-Marquez, E., Haynes, R., Offer, A., Pedersen, T. R., Baigent, C., Collins, R., et al. (2018) · Circulation: Genomic and Precision Medicine · doi:10.1161/circgen.117.001696 · Cited by 93 · see citing works
Shah, A. D., Denaxas, S., Nicholas, O., Hingorani, A. D., & Hemingway, H. (2016) · Open Heart · doi:10.1136/openhrt-2016-000477 · Cited by 91 · see citing works
Ross, S., D’Mello, M., Anand, S. S., Eikelboom, J., CARDIoGRAMplusC4D Consortium*, Stewart, A. F. R., Samani, N. J., Roberts, R., & Paré, G. (2015) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.114.000952 · Cited by 90 · see citing works
Management of residual risk after statin therapy
Reith, C. A., & Armitage, J. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.12.018 · Cited by 91 · see citing works
Guo, Y., Lanktree, M. B., Taylor, K. C., Hakonarson, H. H., Lange, L. A., & Keating, B. J. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds396 · Cited by 84 · see citing works
Fava, C., & Montagnana, M. (2018) · Frontiers in Pharmacology · doi:10.3389/fphar.2018.00055 · Cited by 84 · see citing works
Lysosomal acid lipase A and the hypercholesterolaemic phenotype
Fouchier, S. W., & Defesche, J. C. (2013) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e328361f6c6 · Cited by 81 · see citing works
Dennis, J., Johnson, C. Y., Adediran, A. S., de Andrade, M., Heit, J. A., Morange, P.-E., Trégouët, D.-A., & Gagnon, F. (2012) · Blood · doi:10.1182/blood-2011-10-383448 · Cited by 78 · see citing works
Genetics of Coronary Artery Disease
Lieb, W., & Vasan, R. S. (2013) · Circulation · doi:10.1161/circulationaha.113.005350 · Cited by 75 · see citing works
Molecular genetics of coronary artery disease
Ozaki, K., & Tanaka, T. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.70 · Cited by 74 · see citing works
A role for collagen type IV in cardiovascular disease?
Steffensen, L. B., & Rasmussen, L. M. (2018) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00070.2018 · Cited by 73 · see citing works
Recent insights into lysosomal acid lipase deficiency
Korbelius, M., Kuentzel, K. B., Bradić, I., Vujić, N., & Kratky, D. (2023) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2023.03.001 · Cited by 72 · see citing works
Plant Sterols and Plant Stanols in Cholesterol Management and Cardiovascular Prevention
Barkas, F., Bathrellou, E., Nomikos, T., Panagiotakos, D. B., Liberopoulos, E. N., & Kontogianni, M. D. (2023) · Nutrients · doi:10.3390/nu15132845 · Cited by 77 · see citing works
Cardiovascular Disease in Bangladesh: A Review
Islam, A. M., Mohibullah, A., & Paul, T. K. (2017) · Bangladesh Heart Journal · doi:10.3329/bhj.v31i2.32379 · Cited by 69 · see citing works
Chistiakov, D. A., Orekhov, A. N., & Bobryshev, Y. V. (2016) · Immunobiology · doi:10.1016/j.imbio.2016.05.010 · Cited by 65 · see citing works
Genetics of Coronary Artery Disease and Myocardial Infarction - 2013
Kessler, T., Erdmann, J., & Schunkert, H. (2013) · Current Cardiology Reports · doi:10.1007/s11886-013-0368-0 · Cited by 54 · see citing works
Ward, M. C., Banovich, N. E., Sarkar, A., Stephens, M., & Gilad, Y. (2021) · eLife · doi:10.7554/elife.57345 · Cited by 50 · see citing works
Immune-mediated mechanisms of atherosclerosis and implications for the clinic
Nus, M., & Mallat, Z. (2016) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2016.1195686 · Cited by 44 · see citing works
The Contribution of Autoantibodies to Inflammatory Cardiovascular Pathology
Meier, L. A., & Binstadt, B. A. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00911 · Cited by 51 · see citing works
Plasma IL-5 concentration and subclinical carotid atherosclerosis
Silveira, A. M. V., McLeod, O., Strawbridge, R. J., Gertow, K., Sennblad, B., Baldassarre, D., Veglia, F., Deleskog, A., Persson, J., Leander, K., et al. (2014) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2014.12.046 · Cited by 50 · see citing works
Li, Y., Wang, D. W., Chen, Y., Chen, C., Guo, J., Zhang, S., Sun, Z., Ding, H., Yao, Y., Zhou, L., et al. (2018) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.117.310594 · Cited by 50 · see citing works
The genetic interactions between non-alcoholic fatty liver disease and cardiovascular diseases
Chew, N., Chong, B., Ng, C. H., Kong, G., Chin, Y. H., Xiao, W., Lee, C. J. M., Dan, Y. Y., Muthiah, M. D., & Foo, R. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.971484 · Cited by 49 · see citing works
A genetic basis for coronary artery disease
Roberts, R. (2014) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2014.10.008 · Cited by 48 · see citing works
Candidate Gene Association Study of Coronary Artery Calcification in Chronic Kidney Disease
Ferguson, J. F., Matthews, G. J., Townsend, R. R., Raj, D. S., Kanetsky, P. A., Budoff, M. J., Fischer, M. J., Rosas, S. E., Kanthety, R., Rahman, M., et al. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.01.103 · Cited by 47 · see citing works
Aherrahrou, R., Kulle, A. E., Alenina, N. V., Werner, R., Vens-Cappell, S., Bäder, M., Schunkert, H., Erdmann, J., & Aherrahrou, Z. (2020) · Scientific Reports · doi:10.1038/s41598-020-65601-0 · Cited by 44 · see citing works
Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations
Elbers, C. C., Guo, Y., Tragante, V., van Iperen, E. P. A., Lanktree, M. B., Castillo, B. A., Chen, F., Yanek, L. R., Wojczynski, M. K., Li, Y. R., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0050198 · Cited by 46 · see citing works
Lipoprotein (a), metabolic syndrome and coronary calcium score in a large occupational cohort
Sung, K.-C., Wild, S. H., & Byrne, C. D. (2013) · Nutrition Metabolism and Cardiovascular Diseases · doi:10.1016/j.numecd.2013.02.009 · Cited by 44 · see citing works
Molusky, M. M., Hsieh, J., Lee, S. X., Ramakrishnan, R., Tascau, L., Haeusler, R. A., Accili, D., & Tall, A. R. (2018) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.118.311212 · Cited by 43 · see citing works
Morris, G. E., Braund, P. S., Moore, J. S., Samani, N. J., Codd, V., & Webb, T. R. (2017) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.116.308734 · Cited by 40 · see citing works
Genetics of Coronary Artery Disease: An Update
Roberts, R. (2014) · Methodist DeBakey Cardiovascular Journal · doi:10.14797/mdcj-10-1-7 · Cited by 39 · see citing works
Shahid, S. U., Shabana, S., Cooper, J. A., Beaney, K. E., Li, K., Rehman, A., & Humphries, S. E. (2017) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2017.01.024 · Cited by 39 · see citing works
Stigmasterol accumulation causes cardiac injury and promotes mortality
Tao, C., Shkumatov, A. A., Alexander, S. T., Ason, B. L., & Zhou, M. (2019) · Communications Biology · doi:10.1038/s42003-018-0245-x · Cited by 38 · see citing works
The Bangladesh Risk of Acute Vascular Events (BRAVE) Study: objectives and design
Chowdhury, R., Alam, D. S., Fakir, I. I., Adnan, S. D., Naheed, A., Tasmin, I., Monower, M. M., Hossain, F., Hossain, F. M., Rahman, M. M., et al. (2015) · European Journal of Epidemiology · doi:10.1007/s10654-015-0037-2 · Cited by 38 · see citing works
Plant sterols and atherosclerosis
Silbernagel, G., Genser, B., Nestel, P. J., & März, W. (2012) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e32835b6271 · Cited by 37 · see citing works
The role of long non-coding RNA ANRIL in the development of atherosclerosis
Фанилевич, Г. И., Kudriashov, V., Sufianov, A. A., Begliarzade, S., Ilyasova, T., Liang, Y., & Beylerli, O. (2022) · Non-coding RNA Research · doi:10.1016/j.ncrna.2022.09.002 · Cited by 37 · see citing works
SH2B3 Is a Genetic Determinant of Cardiac Inflammation and Fibrosis
Flister, M. J., Hoffman, M. J., Lemke, A., Prisco, S. Z., Rudemiller, N. P., O'Meara, C. C., Tsaih, S., Moreno, C., Geurts, A. M., Lazar, J., et al. (2015) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.114.000527 · Cited by 36 · see citing works
The genetics of coronary artery disease
Roberts, R., & Stewart, A. F. R. (2012) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e3283515b4b · Cited by 36 · see citing works
Plasma cytokines and risk of coronary heart disease in the PROCARDIS study
Clarke, R., Valdés‐Márquez, E., Hill, M., Gordon, J., Farrall, M., Hamsten, A., Watkins, H. C., & Hopewell, J. C. (2018) · Open Heart · doi:10.1136/openhrt-2018-000807 · Cited by 36 · see citing works
Rizza, S., Copetti, M., Cardellini, M., Menghini, R., Pecchioli, C., Luzi, A., Cola, G. D., Porzio, O., Ippoliti, A., Romeo, F., et al. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.01.029 · Cited by 36 · see citing works
Functional Analysis of Two Haplotypes of the Human Endothelial Protein C Receptor Gene
Medina, P., Navarro, S., Bonet, E., Martos, L., Estellés, A., Bertina, R. M., Vos, H. L., & España, F. (2014) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.113.302518 · Cited by 35 · see citing works
Coherent Somatic Mutation in Autoimmune Disease
Ross, K. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0101093 · Cited by 34 · see citing works
Zhang, H., Shi, J., Hachet, M., Xue, C., Bauer, R. C., Jiang, H., Li, W., Tohyama, J., Millar, J., Billheimer, J. T., et al. (2017) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.117.310023 · Cited by 34 · see citing works
Hindy, G., Wiberg, F., Almgren, P., Melander, O., & Orho‐Melander, M. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.117.001856 · Cited by 34 · see citing works
The shared allelic architecture of adiponectin levels and coronary artery disease
Dastani, Z., Johnson, T., Kronenberg, F., Nelson, C. P., Assimes, T. L., März, W., & Richards, J. B. (2013) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2013.03.034 · Cited by 33 · see citing works
Vargas‐Alarcón, G., Posadas‐Romero, C., Villarreal-Molina, M. T., Álvarez-León, E., Ángeles-Martínez, J., Vallejo, M., Posadas‐Sánchez, R., Cardoso-Saldaña, G. C., Medina-Urrutia, A. X., & Kimura‐Hayama, E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074703 · Cited by 31 · see citing works
The Enigma of Genetics Etiology of Atherosclerosis in the Post-GWAS Era
Marian, A. J. (2012) · Current Atherosclerosis Reports · doi:10.1007/s11883-012-0245-0 · Cited by 31 · see citing works
Huang, J. V., Cárdenas, A., Colicino, E., Schooling, C. M., Rifas‐Shiman, S. L., Agha, G., Zheng, Y., Hou, L., Just, A. C., Litonjua, A. A., et al. (2018) · Epigenetics · doi:10.1080/15592294.2018.1543503 · Cited by 28 · see citing works
Genetics of Coronary Artery Disease in the 21st Century
Roberts, R., & Stewart, A. F. R. (2012) · Clinical Cardiology · doi:10.1002/clc.22002 · Cited by 29 · see citing works
Genetic analysis of the 9p21.3 CAD risk locus in Asian Indians
Arvind, P., Jambunathan, S., Nair, J., Kakkar, V. V., & Shanker, J. (2014) · Thrombosis and Haemostasis · doi:10.1160/th13-08-0706 · Cited by 28 · see citing works
NEXN Is a Novel Susceptibility Gene for Coronary Artery Disease in Han Chinese
Wu, C., Yan, H., Sun, J., Yang, F., Song, C. H., Jiang, F., Yang, L., Dong, J., Zheng, G.-Y., Tian, X.-L., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0082135 · Cited by 28 · see citing works
Genetic Risk Scores Predict Recurrence of Acute Coronary Syndrome
Vaara, S. M., Tikkanen, E., Parkkonen, O., Lokki, M., Ripatti, S., Perola, M., Nieminen, M. S., & Sinisalo, J. P. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001271 · Cited by 28 · see citing works
Koschinsky, M. L., & Boffa, M. B. (2014) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2014.08.002 · Cited by 27 · see citing works
Meta-Analyses of KIF6 Trp719Arg in Coronary Heart Disease and Statin Therapeutic Effect
Peng, P., Lian, J., Huang, R. S., Xu, L., Huang, Y., Ba, Y., Yang, X., Huang, X., Dong, C., Zhang, L., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0050126 · Cited by 27 · see citing works
Robinet, P., Ritchey, B., & Smith, J. D. (2013) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.112.301041 · Cited by 27 · see citing works
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk
Zhou, Y., Mägi, R., Milani, L. A., & Lauschke, V. M. (2018) · Journal of Lipid Research · doi:10.1194/jlr.p086710 · Cited by 26 · see citing works
Besler, K. J., Blanchard, V., & Francis, G. A. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1013266 · Cited by 26 · see citing works
Pandora's Box: mitochondrial defects in ischaemic heart disease and stroke
Andalib, S., Divani, A. A., Michel, T. M., Høilund‐Carlsen, P. F., Vafaee, M. S., & GJEDDE, A. H. (2017) · Expert Reviews in Molecular Medicine · doi:10.1017/erm.2017.5 · Cited by 25 · see citing works
Inflammation-Related Risk Loci in Genome-Wide Association Studies of Coronary Artery Disease
Mauersberger, C., Schunkert, H., & Sager, H. B. (2021) · Cells · doi:10.3390/cells10020440 · Cited by 25 · see citing works
Ishigami, T., Abe, K., Aoki, I., Minegishi, S., Ryo, A., Matsunaga, S., Matsuoka, K., Takeda, H., Sawasaki, T., Umemura, S., et al. (2013) · The FASEB Journal · doi:10.1096/fj.12-222653 · Cited by 25 · see citing works
- Authors
- The IBC 50K CAD Consortium
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- Corresponding author
- The IBC 50K CAD Consortium
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-09-22
- Volume
- 7
- Issue
- 9
- Pages
- e1002260
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC3178591
- OpenAlex
- W1590005134
- Cited by
- 237
- References
- 36
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 2 · 2023: 7 · 2022: 12 · 2021: 11 · 2020: 7 · 2019: 9 · 2018: 17 · 2017: 18 · 2016: 22 · 2015: 25 · 2014: 36 · 2013: 28 · 2012: 26
- FWCI
- 18.36
- Type
- journal article
- Language
- en
- Update notices
- correction (2012-08-14)
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by)
- Pure Amsterdam UMC (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- Surrey Research Insight Open Access (The University of Surrey) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Leicester Research Archive (University of Leicester) (submittedVersion, other-oa)
- Site cant be reached (submittedVersion, cc-by)
- Research Explorer (The University of Manchester) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Spiral (Imperial College London) (submittedVersion, other-oa)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- AstraZeneca
- GlaxoSmithKline
- University of Pennsylvania
- Wellcome Trust (090532)
- National Institute for Health and Care Research (RP-PG-0310-1002, CL-2010-11-001, PG-0310-1002)
- British Heart Foundation (LSHM-CT-2007-037273, RG/09/12/28096, RP-PG-0310-1002, PG-0310-1002, RG/08/014/24067)
- University of Cambridge
- European Commission (201668, LSHM-CT-2007–037273, LSHM-CT 2006–037593, 28,29, LSHM-CT-2004-503485, 57,58)
- Fondation Leducq (05-CVD)
- ZonMw
- Bundesministerium für Bildung und Forschung (01GS0834)
- College ter Beoordeling van Geneesmiddelen
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (2001.064)
- Hjärt-Lungfonden
- Karolinska Institutet
- Knut och Alice Wallenbergs Stiftelse
- Novo Nordisk
- Stockholms Läns Landsting (560283)
- Top Institute Pharma
- KWF Kankerbestrijding
- Center for Translational Molecular Medicine
- Universität Ulm
- Medical Research Council (09/12)
- World Cancer Research Fund
- Agentschap NL
- Münchner Zentrum für Gesundheitswissenschaften
- National Heart, Lung, and Blood Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
- Life Sciences › Immunology and Microbiology › Immunology › Atherosclerosis and Cardiovascular Diseases
- Keywords
- coronary artery disease, genetic susceptibility, candidate gene association, novel genetic variants, 9p21.3, LPA, LIPA, TRIB1, ABCG5/ABCG8, CYP17A1, low-frequency variants, functional variants, South Asian populations, European populations, replication, gene expression, serum lipids
- MeSH terms
- Adult, Aged, Alleles, Coronary Artery Disease, Female, Humans, Male, Middle Aged, Risk, Genetic Variation, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Asian People, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
