The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Genetic Variation Near the Hepatocyte Nuclear Factor-4α Gene Predicts Susceptibility to Type 2 Diabetes
Open accessAbstract
The Finland-United States Investigation Of NIDDM Genetics (FUSION) study aims to identify genetic variants that predispose to type 2 diabetes by studying affected sibling pair families from Finland. Chromosome 20 showed our strongest initial evidence for linkage. It currently has a maximum logarithm of odds (LOD) score of 2.48 at 70 cM in a set of 495 families. In this study, we searched for diabetes susceptibility variant(s) at 20q13 by genotyping single nucleotide polymorphism (SNP) markers in case and control DNA pools. Of 291 SNPs successfully typed in a 7.5-Mb interval, the strongest association confirmed by individual genotyping was with SNP rs2144908, located 1.3 kb downstream of the primary β-cell promoter P2 of hepatocyte nuclear factor-4α (HNF4A). This SNP showed association with diabetes disease status (odds ratio [OR] 1.33, 95% CI 1.06–1.65, P = 0.011) and with several diabetes-related traits. Most of the evidence for linkage at 20q13 could be attributed to the families carrying the risk allele. We subsequently found nine additional associated SNPs spanning a 64-kb region, including the P2 and P1 promoters and exons 1–3. Our results and the independent observation of association of SNPs near the P2 promoter with diabetes in a separate study population of Ashkenazi Jewish origin suggests that variant(s) located near or within HNF4A increases susceptibility to type 2 diabetes.
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
Mootha, V. K., Lindgren, C. M., Eriksson, K.-F., Subramanian, A., Sihag, S., Lehar, J., Puigserver, P., Carlsson, E., Ridderstråle, M., Laurila, E., et al. (2003) · Nature Genetics · doi:10.1038/ng1180 · Cited by 10,197
Haplotype tagging for the identification of common disease genes
Johnson, G. C. L., Esposito, L., Barratt, B. J., Smith, A. N., Heward, J., Di Genova, G., Ueda, H., Cordell, H. J., Eaves, I. A., Dudbridge, F., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-233 · Cited by 1,174
Self-citationMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
Fajans, S. S., Bell, G. I., & Polonsky, K. S. (2001) · New England Journal of Medicine · doi:10.1056/nejmra002168 · Cited by 1,123
Ek, J., Andersen, G., Urhammer, S. A., Gæde, P. H., Drivsholm, T., Borch-Johnsen, K., Hansen, T., & Pedersen, O. (2001) · Diabetologia · doi:10.1007/s001250100032 · Cited by 293
Cited by
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
Type 2 diabetes: principles of pathogenesis and therapy
Stumvoll, M., Goldstein, B. J., & van Haeften, T. W. (2005) · The Lancet · doi:10.1016/s0140-6736(05)61032-x · Cited by 2,662
What makes a good genetic association study?
Hattersley, A. T., & McCarthy, M. I. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67531-9 · Cited by 470
Common variants in WFS1 confer risk of type 2 diabetes
Sandhu, M. S., Weedon, M. N., Fawcett, K. A., Wasson, J., Debenham, S. L., Daly, A., Lango, H., Frayling, T. M., Neumann, R. J., Sherva, R., et al. (2007) · Nature Genetics · doi:10.1038/ng2067 · Cited by 381
Sandovici, I., Smith, N. H., Nitert, M. D., Ackers-Johnson, M., Uribe-Lewis, S., Ito, Y., Jones, R. H., Marquez, V. E., Cairns, W., Tadayyon, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1019007108 · Cited by 326
Metadata
- Authors
- Silander, K., Mohlke, K. L., Scott, L. J., Peck, E. C., Hollstein, P., Skol, A. D., Jackson, A. U., Deloukas, P., Hunt, S., Stavrides, G., Chines, P. S., Erdos, M. R., Narisu, N., Conneely, K. N., Li, C., Fingerlin, T. E., Dhanjal, S. K., Valle, T. T., Bergman, R. N., Tuomilehto, J., Watanabe, R. M., Boehnke, M., & Collins, F. S.
- Venue
- Diabetes
- Publisher
- American Diabetes Association
- Published
- 2004-04-01
- Volume
- 53
- Issue
- 4
- Pages
- 1141-1149
- ISSN
- 0012-1797 (ISSN-L)
- 1939-327X
- OpenAlex
- W2138175151
- Cited by
- 267
- References
- 4
- FWCI
- 21.72
- 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: Genetic Variation Near the Hepatocyte Nuclear Factor-4α Gene Predicts Susceptibility to Type 2 Diabetes. https://app.cochat.ai/papers/10.2337/diabetes.53.4.1141
- The paper
- Silander, K., Mohlke, K. L., Scott, L. J., Peck, E. C., Hollstein, P., Skol, A. D., Jackson, A. U., Deloukas, P., Hunt, S., Stavrides, G., Chines, P. S., Erdos, M. R., Narisu, N., Conneely, K. N., Li, C., Fingerlin, T. E., Dhanjal, S. K., Valle, T. T., Bergman, R. N., . . . Collins, F. S. (2004). Genetic Variation Near the Hepatocyte Nuclear Factor-4α Gene Predicts Susceptibility to Type 2 Diabetes. Diabetes. https://doi.org/10.2337/diabetes.53.4.1141
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.
