The DOI matches its Crossref record; 35 of the 36 references it cites were found in a registry or an index.
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.
Overview
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
Verification
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?
In the citing paper
“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.
Citations
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
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
Self-citationInflammation, Atherosclerosis, and Coronary Artery Disease
Hansson, G. K. (2005) · New England Journal of Medicine · doi:10.1056/nejmra043430 · Cited by 8,773
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
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
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714
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
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
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
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
Flagged first, then by citations
1 of the 36 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 201–237 of 237
Bedeutung moderner Genomstudien für das Herzinfarktrisiko
Kessler, T., Erdmann, J., & Schunkert, H. (2014) · Der Internist · doi:10.1007/s00108-013-3304-x · Cited by 2
Genomics to Predict Risk of Coronary Artery Disease
Kessler, T., von Ameln, S., & Schunkert, H. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801812-5.00002-0 · Cited by 2
Kral, B. G., & Becker, L. C. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802385-3.00008-5 · Cited by 3
Vargas‐Alarcón, G., Posadas‐Romero, C., Villarreal-Molina, M. T., Álvarez-León, E., Ángeles-Martínez, J., Vallejo, M., Posadas‐Sánchez, R., Cardoso, G., Medina-Urrutia, A. X., & Kimura‐Hayama, E. (2013) · PLoS ONE · doi:10.1371/annotation/f99d1cf3-ad36-4185-bde4-a6bf654ccdf5 · Cited by 2
Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease
Fornengo, P., Ferro, A., Fagoonee, S., Rinaudo, E., Amione, C., & Durazzo, M. (2025) · World Journal of Cardiology · doi:10.4330/wjc.v17.i11.111292 · Cited by 1
Restricted Versus Genome‐Wide Genetic Risk Scores for Coronary Artery Disease
Sedaghati-khayat, B., Lin, H. J., Tan, J., Yao, J., Mazumdar, T., Bos, M. M., Juskiewicz, K., Broer, L. N., Taylor, K. D., Li, X., et al. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.125.041398 · Cited by 1
Integrated approaches to functionally characterize novel factors in lipoprotein metabolism
Runz, H. (2012) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e328350fc3d · Cited by 1
Erdmann, J., Rumpf, P. M., & Schunkert, H. (2012) · CardioVasc · doi:10.1007/s15027-012-0083-6 · Cited by 1
Lysosomal acid lipase deficiency e An under-recognized cause of dyslipidaemia and liver dysfunction
Guardamagna, O., Nair, D. R., Hovingh, K., Bertolini, S., Jones, S. A., Calandra, S., Hamilton, J. B., Eagleton, T., & Ros, E. (2014) · Cited by 1
Akadam-Teker, B., Teker, E., Yılmaz, H., & Aday, A. D. (2019) · İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi · doi:10.38079/igusabder.590895 · Cited by 1
Adipocyte Tribbles1 Regulates Plasma Adiponectin and Plasma Lipids in MicePreprint
Ha, E. E., Quartuccia, G. I., Ling, R., Xue, C., Hernández‐Ono, A., Imam, R., Cui, J. G., Soni, R. K., & Bauer, R. C. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.03.11.434882 · Cited by 1
Decoding the variant-to-function relationship for LIPA , a risk locus for coronary artery diseasePreprint
Li, F., Flynn, E. D., Ha, P., Zebak, M. N., Cheng, H. M., Xue, C., Shi, J., Wu, X., Wang, Z., Meng, Y., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.11.12.516293 · Cited by 1
Geneetilistel markeritel põhinev südame isheemiatõve riski hindamine Eesti Geenivaramu kohordis
Tähiste, A. (2014) · DSpace repository (University of Tartu)
Dissecting lipid and lipoprotein issues in women: anin utero-through-menopause journey
Dayspring, T. D., & Baum, S. J. (2015) · Clinical Lipidology · doi:10.2217/clp.15.28
T-cell specificity and regulation in atherosclerosis
Gisterå, A. (2015) · Figshare
Investigating Genetic Risk Factors of Coronary Artery Disease Using Genome Editing
McVey, D. G. (2016) · Leicester Research Archive (University of Leicester)
The Path to Personalized Cardiovascular Medicine
Marı́n-Garcı́a, J. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404599-6.00024-x
The Genetics of Coronary Heart Disease across Ethnicities and in those with Type 2 Diabetes
Beaney, K. (2016) · Doctoral thesis, UCL (University College London).
Gao, M., Tang, H., Zheng, X., Zhou, F., & Lu, W. (2015)
Genetic Association with Coronary Artery Disease
Rahman, M. T., & Islam, A. M. (2017) · Cardiovascular Journal · doi:10.3329/cardio.v9i2.32430
THERAPEUTIC IMPLICATIONS OF GENETIC RISK VARIANTS FOR CORONARY ARTERY DISEASE
Srivastava, R. K., Sayyed, N. D., Rane, K., & Joshi, D. S. (2017) · Journal of Evidence Based Medicine and Healthcare · doi:10.18410/jebmh/2017/133
Παπαγεωργίου, Ν., Diamantis, E., Zacharia, E. M., & Tousoulis, D. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-811908-2.00007-6
Lysosomal oxidation of Low Density Lipoproteins
Ahmad, F. (2017) · CentAUR (University of Reading)
Lysosomal acid lipase deficiency - underestimated cause of dislipidemia. what's new?
Oynotkinova, O. S., Никонов, Е. Л., Baranov, A. P., Krukov, E. V., & Doroshko, M. A. (2018) · Russian Journal of Evidence-Based Gastroenterology · doi:10.17116/dokgastro2018704165
Emdin, C. A. (2020) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)
Lithovius, R., Antikainen, A. A., Mutter, S., Valo, E., Forsblom, C. M., Harjutsalo, V., Sandholm, N., Groop, P., & the FinnDiane Study Group (2022) · doi:10.2337/figshare.17138330.v1
Lithovius, R., Antikainen, A. A., Mutter, S., Valo, E., Forsblom, C. M., Harjutsalo, V., Sandholm, N., Groop, P., & the FinnDiane Study Group (2022) · doi:10.2337/figshare.17138330
Phytosterol Accumulation Results in Ventricular Arrhythmia, Impaired Cardiac Function and DeathPreprint
Ge, H., Liu, G., Yamawaki, T., Tao, C., Alexander, S. T., Ly, K., Fordstrom, P., Shkumatov, A. A., Li, C.-M., Rajamani, S., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-474251/v1
Genetics of Atherosclerotic Cardiovascular Disease
Qasim, A., & Reilly, M. P. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05528-8
Yaneva-Sirakova, T., Kaneva, R. P., Tzveova, R., Bozhilova, R., Popov, I. E., Shumkova, M., Hristova, I., & Vassilev, D. I. (2022) · Acta Medica Bulgarica · doi:10.2478/amb-2022-0034
Genetic determinants of cardiovascular disease : heritability and genetic risk score
Salfati, E. (2014) · theses.fr (ABES) · doi:10.70675/8242b8f4za5a3z4ad3z9defz50cf20be4a37
Feng, Y.-J., Jiang, Z., Pan, Y., Zhu, C.-Y., Ling, X., Wang, Z.-L., Deng, C., Zheng, Y., Wu, T., & Xie, X. (2026) · International Journal of General Medicine · doi:10.2147/ijgm.s572183
The intersection of disorders of sex development and cardiovascular diseases
Hashmi, S., & Aherrahrou, R. (2026) · Biology of Sex Differences · doi:10.1186/s13293-025-00814-4
Zhang, W., Zhang, M., Sha, Z., Yan, G., Tang, C., & Li, M. (2026) · Pharmacological Research · doi:10.1016/j.phrs.2026.108168
Addition of CAD polygenic risk score to coronary artery calcium score enhances prediction of MACE
Maryniak, A., Oleszak, F., Coy, K., Larson, E. A., Hajek, C. A., Bartaria, S., Gu, S., Weaver, M., Rotter, J. I., Guo, X., et al. (2026) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2026.1814510
Ivanova, N. G. (2026) · Konuralp Tıp Dergisi · doi:10.18521/ktd.1882189
Li, T., Qiu, J., Zhang, H., Wu, J., Wang, X., Wen, J., Dong, X., Fu, R., Lu, L., Zhang, L., et al. (2026) · Journal of Lipid Research · doi:10.1016/j.jlr.2026.101092
Metadata
- 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
