The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
Association Between a Literature-Based Genetic Risk Score and Cardiovascular Events in Women
Open accessAbstract
CONTEXT: While multiple genetic markers associated with cardiovascular disease have been identified by genome-wide association studies, their aggregate effect on risk beyond traditional factors is uncertain, particularly among women. OBJECTIVE: To test the predictive ability of a literature-based genetic risk score for cardiovascular disease. DESIGN, SETTING, AND PARTICIPANTS: Prospective cohort of 19,313 initially healthy white women in the Women's Genome Health Study followed up over a median of 12.3 years (interquartile range, 11.6-12.8 years). Genetic risk scores were constructed from the National Human Genome Research Institute's catalog of genome-wide association study results published between 2005 and June 2009. MAIN OUTCOME MEASURE: Incident myocardial infarction, stroke, arterial revascularization, and cardiovascular death. RESULTS: A total of 101 single nucleotide polymorphisms reported to be associated with cardiovascular disease or at least 1 intermediate cardiovascular disease phenotype at a published P value of less than 10(-7) were identified and risk alleles were added to create a genetic risk score. During follow-up, 777 cardiovascular disease events occurred (199 myocardial infarctions, 203 strokes, 63 cardiovascular deaths, 312 revascularizations). After adjustment for age, the genetic risk score had a hazard ratio (HR) for cardiovascular disease of 1.02 per risk allele (95% confidence interval [CI], 1.00-1.03/risk allele; P = .006). This corresponds to an absolute cardiovascular disease risk of 3% over 10 years in the lowest tertile of genetic risk (73-99 risk alleles) and 3.7% in the highest tertile (106-125 risk alleles). However, after adjustment for traditional factors, the genetic risk score did not improve discrimination or reclassification (change in c index from Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults [ATP III] risk score, 0; net reclassification improvement, 0.5%; [P = .24]). The genetic risk score was not associated with cardiovascular disease risk (ATP III-adjusted HR/allele, 1.00; 95% CI, 0.99-1.01). In contrast, self-reported family history remained significantly associated with cardiovascular disease in multivariable models. CONCLUSION: After adjustment for traditional cardiovascular risk factors, a genetic risk score comprising 101 single nucleotide polymorphisms was not significantly associated with the incidence of total cardiovascular disease.
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“models to combine multiple markers into a cumulative risk score are often flawed and are usually no better than traditional risk factors such as family history, demographics and non-genetic clinical phenotypes.”
From Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (2015) · cites this paper as [56]
Experimental — accuracy not yet measuredIn the citing paper
“In some conditions the process of genetic counselling can be optimized and extended with cascade screening, which identifies patients at risk and enables timely treatment of affected relatives, as is the case for familial hypercholesterolaemia.72,75”
From European Guidelines on cardiovascular disease prevention in clinical practice (version 2012) (2012) · cites this paper as [72]
In the citing paper
“These risk alleles, when aggregated into a polygenic risk score, are predictive of incident coronary events and provide a continuous and quantitative measure of genetic susceptibility.16–24”
From Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease (2016) · cites this paper as [18]
In the citing paper
“Our finding that a polygenic risk score has robust associations with incident coronary events is well aligned with previous studies of both primary and secondary prevention populations.16–24”
From Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease (2016) · cites this paper as [18]
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
Grundy, S. M., Bilheimer, D. W., Chait, A., Clark, L. T., Denke, M. A., Havel, R. J., Hazzard, W. R., Hulley, S. B., Hunninghake, D. B., Kreisberg, R. A., et al. (1993) · JAMA · doi:10.1001/jama.269.23.3015 · Cited by 27,944
Detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III)
Grundy, S. M., Becker, D. M., Clark, L. T., Cooper, R., Denke, M. A., Howard, J. L., Hunninghake, D. B., Illingworth, D. R., Luepker, R. V., McBride, P. E., et al. (2002) · Civil War Book Review · Cited by 12,198
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
Pencina, M. J., D' Agostino, R. B., D' Agostino, R. B., & Vasan, R. S. (2008) · Statistics in Medicine · doi:10.1002/sim.2929 · Cited by 6,493
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
A genome-wide association study identifies novel risk loci for type 2 diabetes
Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D., Boutin, P., Vincent, D., Belisle, A., Hadjadj, S., et al. (2007) · Nature · doi:10.1038/nature05616 · Cited by 2,993
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., Roix, J. J., Kathiresan, S., Hirschhorn, J. N., Daly, M. J., et al. (2007) · Science · doi:10.1126/science.1142358 · Cited by 2,843
Flagged first, then by citations
Cited by
Sorted by citations
Items 301–361 of 361
Family History in the Assessment of Risk for Common Complex Diseases: Current State of Evidence
Hasanaj, Q. (2012) · uO Research (University of Ottawa) · doi:10.20381/ruor-5462 · Cited by 1
Re: "Problems With Risk Reclassification Methods for Evaluating Prediction Models"
Cook, N. R. (2011) · American Journal of Epidemiology · doi:10.1093/aje/kwr281 · Cited by 1
Prediction of Inflammatory Bowel Diseases using Genetic Risk Score in Asian populationsPreprint
Abedian, S., Wong, S. H., van Sommeren, S., Takahashi, A., Cheon, J. H., Sood, A., Vahedi, H., Yamazaki, K., Kim, W. H., Thelma, B. K., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-153287/v1 · Cited by 1
Borglykke, A., Grarup, N., Sparsø, T., Linneberg, A. R., Fenger, M., Jeppesen, J., Hansen, T. F., Pedersen, O. B., & rgensen, T. J. (2013) · PLoS ONE · doi:10.1371/annotation/77e1d9b0-2b94-4a1b-95d5-4336258cecef · Cited by 1
Sex and Gender Differences in Cardiovascular Disease
Mathews, L. M., Chandrashekar, P., Prasad, M., Miller, V. M., Sharma, K., Sedlak, T., Merz, C. N. B., & Ouyang, P. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-809657-4.64153-4 · Cited by 1
Medeiros, K. K. A. S. (2023) · doi:10.11606/t.6.2023.tde-19042023-181215 · Cited by 1
Risk prediction models for cardiovascular disease and overall mortality
Ganna, A. (2014) · Figshare
Components of the metabolic syndrome: clustering and genetic variance
Povel, C. M. (2012) · doi:10.18174/205682
Critique of “Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing”
Nussbaum, R. L. (2012) · Surgery · doi:10.1016/j.surg.2011.12.030
Cho, A., Jiang, Mann, Kawamoto, Robinson, Wang, McCarthy, Woodward, M., & Ginsburg (2012) · Comparative Effectiveness Research · doi:10.2147/cer.s26220
Genetics of myocardial infarction in clinical practice. Is it ready for prime time?
Notarangelo, M. F., Bontardelli, F., Giacalone, R., Guidorossi, A., Caporale, V., & Ardissino, D. (2014) · Genetics of Multifactorial Disorders · doi:10.2478/gmd-2014-0001
Estudios de asociación de genoma completo: no hay que juzgar un libro por la portada
Roberts, R. (2010) · Revista Española de Cardiología · doi:10.1016/s0300-8932(10)70200-1
Optimizing lipid-lowering therapy in the prevention of coronary heart disease
Packard, C. J. (2010) · Expert Review of Clinical Pharmacology · doi:10.1586/ecp.10.51
Degnan, A. J., & Gillard, J. H. (2011) · Future Neurology · doi:10.2217/fnl.11.60
Exercise testing and disease risk: individualized medicine without the “omics”?
Joyner, M. J. (2011) · Journal of Applied Physiology · doi:10.1152/japplphysiol.01154.2011
Population Genomics of Heart Diseases and Risk Factors: Going Wider and Deeper
Huang, J., Tang, W., & Wang, L. (2011) · North American Journal of Medicine and Science · doi:10.7156/v4i4p249
Geneetilistel markeritel põhinev südame isheemiatõve riski hindamine Eesti Geenivaramu kohordis
Tähiste, A. (2014) · DSpace repository (University of Tartu)
Genome Wide Association Studies – Do Not Judge a Book by Its Cover
Roberts, R. (2010) · Revista Española de Cardiología (English Edition) · doi:10.1016/s1885-5857(10)70182-1
Ask the Expert: Genetics and Genomics
Cohen, R. M. (2010) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/foc.8.3.foc380
NATURE AND NURTURE ARE WE MISSING A THIRD OPTION
Johnston, E. N. (2013) · Otago University Research Archive (University of Otago)
Genetic risk profiles for coronary heart disease
Tikkanen, E. (2013) · Työväentutkimus Vuosikirja
Pell, J. P. (2013) · DOAJ (DOAJ: Directory of Open Access Journals)
Nickele, A., Dempsey, J. A., Babcock, M. A., Pegelow, D. F., Clausell, N., Sanches, S., Tavares, Â. M. V., Ribeiro, J. P., Berton, D. C., Balzan, F. M., et al. (2015)
Challenges Randomized Trial of Personal Genomics for Preventive Cardiology : Design and
Ashley, E. A., Goldstein, B. A., Yank, V. A., McConnell, M. V., Absher, D., Knowles, W. A., Assimes, T. L., Kiernan, M., & Pavlović, A. (2012)
Knowles, J. W., Themistocles, P., Assimes, L., Kiernan, M., Pavlovic, R., Benjamin, B., Goldstein, A., Yank, V. A., McConnell, M. V., Absher, M. D., et al. (2016)
Paynter, N. P., Everett, B. M., & Cook, N. R. (2014)
Self-citationPredictor, forecaster or augur
Glick, M. (2010) · The Journal of the American Dental Association · doi:10.14219/jada.archive.2010.0266
Pell, J. P. (2013) · The Anatolian Journal of Cardiology · doi:10.5152/akd.2013.063
Investigation of Arterial Geometry as a Local Risk Factor for Carotid Atherosclerosis
Bijari, P. B. (2013) · TSpace (University of Toronto)
Genomics: Present-day practices and future trends.
Boissonneault, G. A. (2011) · PubMed
Optimization of primary and secondary prevention
Naka, K. Κ., Bechlioulis, A., & Michalis, L. K. (2012) · doi:10.1201/9780367805395-28
Labos, C. (2014) · eScholarship@McGill (McGill) · doi:10.82308/49679
The Genetics of Coronary Heart Disease across Ethnicities and in those with Type 2 Diabetes
Beaney, K. (2016) · Doctoral thesis, UCL (University College London).
Aviation Relevance of Genetic Risk Scores for Cardiovascular Disease
Burian, D. M. (2015) · ROSA P
Genetic Evaluation for Common Diseases of Adulthood
Scheuner, M. T., & Rhodes, S. L. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00027-6
How does Genetic Burden Determine Disease Onset of Systemic Lupus Erythematosus
Dominguez, M. D. (2015) · TSpace (University of Toronto)
OBSOLETE: Sex and Gender Differences in Cardiovascular Disease
Ouyang, P. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64153-3
Novel Approaches to Cardiovascular Diagnostics
Wingrove, J. A., & Rosenberg, S. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801812-5.00011-1
Eliseyeva, M. (2017) · International Journal of Biomedicine · doi:10.21103/article7(4)_em
Genetic Signature of Skin Aging: A Pilot Study
Garoia, F., DUCA, E. D., Cascella, R., Giardina, E., Bottoni, U., & Nisticò, S. P. (2018) · Journal of Clinical & Experimental Dermatology Research · doi:10.4172/2155-9554.1000472
Genetics of myocardial infarction
Lobach, L. Y. (2015) · Medicine of Ukraine · doi:10.37987/1997-9894.2015.5(191).222566
Emdin, C. A. (2020) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)
Epidemiology of Atherosclerotic Vascular Disease
Andersson, C., & O’Donnell, C. J. (2014) · Springer eBooks · doi:10.1007/978-3-642-37393-0_46-1
Optimization of primary and secondary prevention
Naka, K. Κ., Bechlioulis, A., & Michalis, L. K. (2012) · CRC Press eBooks · doi:10.3109/9781841848549.022
GENOMICS: Present-day practices and future trends
&NA; (2011) · JAAPA · doi:10.1097/01720610-201101000-00004
Genetic Evaluation for Common Diseases of Adulthood
Scheuner, M., & Rhodes, S. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05493-3
Genetic Epidemiology of Atherosclerotic Vascular Disease
O’Donnell, C. J., & Fu, Y. (2014) · Springer eBooks · doi:10.1007/978-3-642-37393-0_47-1
(2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813635-5.16001-x
Christoffersen, M., & Tybjærg‐Hansen, A. (2022) · Contemporary cardiology · doi:10.1007/978-3-030-98824-1_21
Pell, J. P. (2012) · The Egyptian Heart Journal · doi:10.1016/j.ehj.2012.05.005
Giraldo, G. C., Fuentes, J. J., Arias, J. C., & Castaño-Molina, C. E. (2024) · medRxiv · doi:10.1101/2024.12.02.24318358
(2025) · Elsevier eBooks · doi:10.1016/b978-0-443-15428-7.16001-5
Overweight, obesity and older Australians: understanding the social context
Manton, E. (2017) · Figshare · doi:10.4225/03/58901514bad94
Hsieh, A.-R., Luo, Y.-L., Bao, B.-Y., & Chou, T.-C. (2024) · Figshare · doi:10.6084/m9.figshare.26157251
Sex and Gender Differences in Cardiovascular Disease
Mehta, P. K., Mathews, L. M., Chandrashekar, P., Prasad, M., Miller, V. M., Sharma, K., Sedlak, T., Merz, C. N. B., Ouyang, P., & Vaccarino, V. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-15734-9.00085-6
Gray, M. P., Strbenac, D., MacArthur, D. G., Avis, S., Fathieh, S., MacArthur, D. G., Natarajan, P., Patel, A. P., Patrick, E., Powell, J. E., et al. (2026) · European Journal of Preventive Cardiology · doi:10.1093/eurjpc/zwag480
Forskningskommentar: Hvor har den nye genforskningen brakt oss?
Elstad, J. I. (2014) · NORA - Norwegian Open Research Archives
Metadata
- Authors
- Paynter, N. P.
- Affiliations
- Brigham and Women's Hospital (US)
- Corresponding author
- Paynter, Nina P.
- ORCID
- Paynter, Nina P.
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2010-02-17
- Volume
- 303
- Issue
- 7
- Pages
- 631
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC2845522
- OpenAlex
- W2015060037
- Cited by
- 361
- References
- 42
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 8 · 2021: 5 · 2020: 9 · 2019: 6 · 2018: 10 · 2017: 22 · 2016: 22 · 2015: 26 · 2014: 32 · 2013: 45 · 2012: 74
- FWCI
- 37.27
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5r01hl043851-10)
- National Heart, Lung, and Blood Institute (R01HL080467, HL043851, R01‐HL043851)
- National Cancer Institute (CA 047988, R01CA047988)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
- Keywords
- polygenic risk score, cardiovascular disease, women, myocardial infarction, stroke, cardiovascular mortality, arterial revascularization, single nucleotide polymorphisms, family history, cardiovascular risk prediction, reclassification, risk discrimination, traditional cardiovascular risk factors, women's cardiovascular health
- MeSH terms
- Alleles, Cardiovascular Diseases, Female, Genetic Markers, Humans, Middle Aged, Phenotype, Prospective Studies, Risk, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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
