The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review
Open accessAbstract
Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low density lipoprotein receptor gene (LDLR) can result in the FH phenotype, and there is evidence that receptor-negative mutations result in a more severe phenotype than do receptor-defective mutations. Mutations in the apolipoprotein B-100 gene (APOB) can result in a phenotype that is clinically indistinguishable from familial hypercholesterolemia, and mutations in this gene have also been shown to be associated with coronary heart disease. Preliminary research indicates that the FH phenotype is influenced by other genetic and environmental factors; however, it is not clear if these are synergistic interactions or simply additive effects.
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.
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
Atherosclerosis--an inflammatory disease
Ross, R. (1999) · New England Journal of Medicine · doi:10.1056/nejm199901143400207 · Cited by 21,725
Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis
Celermajer, D. S., Sorensen, K. E., Gooch, V. M., Spiegelhalter, D. J., Miller, O. I., Sullivan, I. D., Lloyd, J. K., & Deanfield, J. E. (1992) · The Lancet · doi:10.1016/0140-6736(92)93147-f · Cited by 4,742
De Backer, G. (2003) · European Heart Journal · doi:10.1016/s0195-668x(03)00347-6 · Cited by 2,251
Apolipoprotein E polymorphism and atherosclerosis.
Davignon, J., Gregg, R. E., & Sing, C. F. (1988) · Arteriosclerosis: An Official Journal of the American Heart Association, Inc. · doi:10.1161/01.atv.8.1.1 · Cited by 1,981
Apolipoprotein E Polymorphism and Cardiovascular Disease: A HuGE Review
Eichner, J. E. (2002) · American Journal of Epidemiology · doi:10.1093/aje/155.6.487 · Cited by 796
Cited by
Raal, F. J., Stein, E. A., Dufour, R., Turner, T., Civeira, F., Burgess, L., Langslet, G., Scott, R., Olsson, A. G., Sullivan, D., et al. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61399-4 · Cited by 756
Efficacy of statins in familial hypercholesterolaemia: a long term cohort study
Versmissen, J., Oosterveer, D. M., Yazdanpanah, M., Defesche, J. C., Basart, D. C. G., Liem, A. H., Heeringa, J., Witteman, J. C., Lansberg, P. J., Kastelein, J. J. P., et al. (2008) · BMJ · doi:10.1136/bmj.a2423 · Cited by 721
Benn, M., Watts, G. F., Tybjaerg-Hansen, A., & Nordestgaard, B. G. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1563 · Cited by 632
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
Goldberg, A. C., Hopkins, P. N., Toth, P. P., Ballantyne, C. M., Rader, D. J., Robinson, J. G., Daniels, S. R., Gidding, S. S., de Ferranti, S. D., Ito, M. K., et al. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.001 · Cited by 622
de Ferranti, S. D., Rodday, A. M., Mendelson, M. M., Wong, J. B., Leslie, L. K., & Sheldrick, R. C. (2016) · Circulation · doi:10.1161/circulationaha.115.018791 · Cited by 380
Metadata
- Authors
- Austin, M. A.
- Venue
- American Journal of Epidemiology
- Publisher
- Oxford University Press (OUP)
- Published
- 2004-09-01
- Volume
- 160
- Issue
- 5
- Pages
- 421-429
- ISSN
- 0002-9262 (ISSN-L)
- OpenAlex
- W2056748059
- Cited by
- 360
- References
- 5
- FWCI
- 8.48
- Type
- journal article
- Language
- en
- Open access
- bronze
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review. https://app.cochat.ai/papers/10.1093/aje/kwh237
- The paper
- Austin, M. A. (2004). Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review. American Journal of Epidemiology. https://doi.org/10.1093/aje/kwh237
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
