The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes
Open accessAbstract
We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice acceptor site, and carriers have decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among individuals with type 2 diabetes in trans-ancestry cohorts. These findings provide new information on disease etiology relevant for future treatment strategies.
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
“These developments have enabled researchers to bridge the gap between the monogenic and polygenic realms, identifying common variant modifiers of monogenic phenotypes contributing to the variable expression of rare, large-effect alleles26,93, and low-frequency and rare variants that influence common multifactorial traits94,95.”
From A brief history of human disease genetics (2020) · cites this paper as [94]
In the citing paper
“Variants of the ADCY3 gene have been linked to increased body mass index (BMI, corrected for height) in children (157); increased type 2 diabetes, BMI, fat percentage, fasting plasma glucose, and acute plasma glucose in a Greenlandic cohort (158); and increased BMI in obese adult subjects (159).”
From Physiological roles of mammalian transmembrane adenylyl cyclase isoforms (2022) · cites this paper as [158]
In the citing paper
“The human genetic data, coupled with the animal models and AC3 location, provide compelling evidence for AC3 as a unique therapeutic target for obesity disorders.”
From Physiological roles of mammalian transmembrane adenylyl cyclase isoforms (2022) · cites this paper as [158]
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
Trimmomatic: a flexible trimmer for Illumina sequence data
Bolger, A. M., Lohse, M., & Usadel, B. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu170 · Cited by 65,548
Matthews, D. R., Hosker, J. P., Rudenski, A. S., Naylor, B. A., Treacher, D. F., & Turner, R. C. (1985) · Diabetologia · doi:10.1007/bf00280883 · Cited by 31,502
Toprak, Ö., Kurt, H., Sarı, Y., Şarkış, C., Us, H., & Kırık, A. (2017) · Kidney & Blood Pressure Research · doi:10.1159/000468530 · Cited by 29,772
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Liao, Y., Smyth, G. K., & Shi, W. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btt656 · Cited by 27,219
HISAT: a fast spliced aligner with low memory requirements
Kim, D., Langmead, B., & Salzberg, S. L. (2015) · Nature Methods · doi:10.1038/nmeth.3317 · Cited by 24,112
Trapnell, C., Williams, B. A., Pertea, G., Mortazavi, A., Kwan, G., van Baren, M. J., Salzberg, S. L., Wold, B. J., & Pachter, L. (2010) · Nature Biotechnology · doi:10.1038/nbt.1621 · Cited by 15,556
Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390
The Pfam Protein Families Database
Bateman, A. G. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.276 · Cited by 14,075
Salmon provides fast and bias-aware quantification of transcript expression
Patro, R., Duggal, G., Love, M. I., Irizarry, R. A., & Kingsford, C. (2017) · Nature Methods · doi:10.1038/nmeth.4197 · Cited by 12,700
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898
Research works printed but not linked: 4
- Lohmueller, K. E. et al. Am. J. Hum. Genet. 93, 1072–1086 (2013). · DOI
- Bjerregaard, P. et al. Int. J. Circumpolar Health 62 (Suppl. 1), 3–79 (2003).
- Bjerregaard, P. Inuit Health in Transition—Greenland Survey 2005–2010 2nd edn (National Institute of Public Health, Copenhagen, 2011).
- Alexander, D. H., Novembre, J. & Lange, K. Genome Res. 19, 1655–1664 (2009). · DOI · Paper page
Cited by
Sorted by citations
Items 201–217 of 217
Wang, W., Liu, Y., Dong, S., Wu, X., Zhang, F., Wang, X., Zhang, X., Hu, X., & Wang, Z. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2025.106112
Fitzpatrick, M. K., Seshie, O., Scott, C. C., Vora, A., Seramur, M. E., Beeson, A., Adrian, L. A., Grzybowski, M. N., Klotz, J., Geurts, A. M., et al. (2026) · Research Square · doi:10.21203/rs.3.rs-8309561/v1
Genetic determinants of plasma lipids in Greenlanders
Hjerresen, J. P., Jørsboe, E., & Andersen, M. K. (2026) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000001023
Self-citationProtéinuries génétiques causées par déficit de réabsorption tubulaire proximale
Bedin, M. (2019) · theses.fr (ABES) · doi:10.70675/a3dc7a92z6158z43fez9b6bzb9ad00e7acbf
Wang, W., Li, Y., Dong, S., Liu, Y., Guo, C., Su, Y., Tian, W., Hu, X., & Wang, Z. (2026) · EMBO Reports · doi:10.1038/s44319-026-00758-9
Prevalence of overweight and obesity among children in Greenland: a growing concern
Frandsen, E. V. G., Christensen, I. H., Pedersen, M. L., & Byberg, S. (2026) · International Journal of Circumpolar Health · doi:10.1080/22423982.2026.2677425
Luo, R., Yu, X. H., Huang, C., Tan, S., Tseng, Y., Feng, Y., & Li, X. (2026) · Genes · doi:10.3390/genes17060642
Nielsen, H., Landbo, C., Senftleber, N. K., Larsen, C. V. L., Bjerregaard, P., Sørensen, T. I. A., Jørgensen, M. E., Christensen, D. L., & Byberg, S. (2026) · International Journal of Circumpolar Health · doi:10.1080/22423982.2026.2686030
Self-citationLatest Advances in Obesity Treatment by Regulating Adipocyte Thermogenesis
Nie, T., Chen, J., Wang, Z., & Mao, L. (2026) · PPAR Research · doi:10.1155/ppar/1742256
Shan, Y., Hu, H., Liu, C., Li, W., & Chu, Y. (2026) · Journal of Obstetrics and Gynaecology · doi:10.1080/01443615.2026.2706674
Qi, Y., Su, Q., Ma, J., Zhou, Z., Zhang, S., Qi, S., & Zhu, J. (2026) · Journal of Hazardous Materials · doi:10.1016/j.jhazmat.2026.143119
Wu, S., Chen, Y., Zhang, J. X., & Zhang, J. (2026) · Journal of Cellular Physiology · doi:10.1002/jcp.70216
Kim, S. H., Arora, I., Agyemang, C. O., Anjana, R. M., Åsvold, B. O., Blom, M. T., Bhupathiraju, S. N., Bonnefond, A., Chan, J. C. N., Davis, T. M. E., et al. (2026) · Diabetologia · doi:10.1007/s00125-026-06812-4
Self-citationGenome-wide mapping of common and rare variant effects on adiposity across childhood
Kentistou, K. A., Sundfjord, J., Karimi, R., Kaisinger, L. R., Hofmeister, R. J., Fragoso-Bargas, N., Lupu, A. E., Zhao, Y., Tadross, J. A., Steuernagel, L., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02772-y · Cited by 1
Rajcsanyi, L. S., Peters, T., & Hinney, A. (2026) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-026-10088-9
Putting ARL13B in Its Place: Ciliary Localization and Body Weight Regulation
Zhang, Z. (2026) · Diabetes · doi:10.2337/dbi26-0041
Metadata
- Authors
- Grarup, N., Moltke, I., Andersen, M. K., Dalby, M., Vitting-Seerup, K., Kern, T., Mahendran, Y., Jørsboe, E., Larsen, C. V. L., Dahl-Petersen, I. K., Gilly, A., Suveges, D., Dedoussis, G., Zeggini, E., Pedersen, O., Andersson, R., Bjerregaard, P., Jørgensen, M. E., Albrechtsen, A., & Hansen, T.
- Affiliations
- University of Copenhagen (DK)
- Ilisimatusarfik (GL)
- Wellcome Sanger Institute (GB)
- Harokopio University of Athens (GR)
- Corresponding author
- Jørgensen, Marit E.
- Albrechtsen, Anders
- Hansen, Torben
- ORCID
- Venue
- Nature Genetics
- Published
- 2018-01-08
- Volume
- 50
- Issue
- 2
- Pages
- 172-174
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5828106
- OpenAlex
- W2781623981
- Cited by
- 216
- References
- 43
- Citations by year
- 2026: 18 · 2025: 20 · 2024: 28 · 2023: 24 · 2022: 18 · 2021: 31 · 2020: 46 · 2019: 12 · 2018: 19
- FWCI
- 16.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, other-oa)
- Funders
- Broad Institute
- Steno Diabetes Center Copenhagen (SDCC 3. B Epidemiology)
- European Commission (HORIZON2020)
- Lundbeckfonden (R215‐2015‐4174)
- Novo Nordisk (NNF16OC0019986)
- Danmarks Frie Forskningsfond (DFF-4090-00244, DFF-4181- 00383, 6108-00038B)
- Copenhagen Graduate School for Nanoscience and Nanotechnology
- Novo Nordisk Fonden (NNF16OC0019986, #NNF17OC0028136, NNF17SH0027192, NNF15SA0018486, NNFCC0018486, NNF15OC0017918)
- Simon Fougner Hartmanns Familiefond
- Novo Nordisk Foundation Center for Basic Metabolic Research
- H. Lundbeck A/S
- Medical Research Council
- Comisión de Investigaciones Científicas
- H2020 European Research Council (638173)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- ADCY3, loss-of-function mutations, obesity, type 2 diabetes, splice acceptor site, RNA expression, Greenlandic Inuit, rare variants, disease risk
- MeSH terms
- Loss of Function Mutation, Adenylyl Cyclases, Adult, Aged, Aged, 80 and over, Diabetes Mellitus, Type 2, Inuit, Female, Gene Frequency, Genotype, Greenland, Humans, Male, Middle Aged, Obesity, Risk Factors, Cohort Studies, Case-Control Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Young Adult
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
