Cited by 217Genetic Associations and EpidemiologyGenomics and Rare DiseasesDiabetes and associated disorders

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 access

Grarup, Niels, Moltke, Ida, Andersen, Mette K., Dalby, Maria, Vitting-Seerup, Kristoffer, Kern, Timo, Mahendran, Yuvaraj, Jørsboe, Emil, Larsen, Christina V. L., Dahl-Petersen, Inger K., Gilly, Arthur, Suveges, Daniel, Dedoussis, George, Zeggini, Eleftheria, Pedersen, Oluf, Andersson, Robin, Bjerregaard, Peter, Jørgensen, Marit E., Albrechtsen, Anders, Hansen, Torben·2018·Nature Genetics

DOI 10.1038/s41588-017-0022-7PMC PMC5828106

Open this paper in CoChat — free account

Abstract

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.

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

Crossref · 10.1038/s41588-017-0022-7

Cites

43 of 43 references verified0 citation errors · 0 not checkable

Statistics

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
Homeostasis model assessment: insulin resistance and ?-cell function from fasting plasma glucose and insulin concentrations in man
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
Magnesium Replacement Improves the Metabolic Profile in Obese and Pre-Diabetic Patients with Mild-to-Moderate Chronic Kidney Disease: A 3-Month, Randomised, Double-Blind, Placebo-Controlled Study
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
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
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
Integrative genomics viewer
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

Show all 43 references

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

Sorted by citations

Items 101–200 of 217

Loss of the centrosomal protein Cenpj leads to dysfunction of the hypothalamus and obesity in mice
Ding, W., Zhang, C., Wang, B., Zhou, X., Sun, L., Zhong, S., Liu, J., Zhang, J., Wang, X., & Wu, Q. (2020) · Science China Life Sciences · doi:10.1007/s11427-020-1767-5 · Cited by 12
Obesity and Cardiometabolic Disease: Insights From Genetic Studies
Dash, S. (2025) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2025.01.034 · Cited by 10
Integrative Analysis of Genome and Expression Profile Data Reveals the Genetic Mechanism of the Diabetic Pathogenesis in Goto Kakizaki (GK) Rats
Meng, Y., Cui, Y., Zhang, W., Fu, S., Huang, L., Dong, H., & Du, H. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2018.00724 · Cited by 9
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy
Cabaud, O., Roubin, R., Comte, A., Bascunana, V., Sergé, A., Sedjaï, F., Birnbaum, D., Rosnet, O., & Acquaviva, C. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy246 · Cited by 8
Heart disease among Greenlandic children and young adults: a nationwide cohort study
Tindborg, M., Koch, A., Andersson, M., Juul, K., Geisler, U. W., Søborg, B., & Michelsen, S. W. (2022) · International Journal of Epidemiology · doi:10.1093/ije/dyac024 · Cited by 8
The primary cilia in diabetic kidney disease: A tubulocentric view?
Panchapakesan, U., & Pollock, C. A. (2020) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2020.105718 · Cited by 8
Kinase-anchoring proteins in ciliary signal transduction
Gopalan, J., Wordeman, L. G., & Scott, J. D. (2021) · Biochemical Journal · doi:10.1042/bcj20200869 · Cited by 8
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report
Niazi, R. K., Gjesing, A. P., Hollensted, M., Have, C. T., Borisevich, D., Grarup, N., Pedersen, O. B., Ullah, A., Shahid, G., Shafqat, I., et al. (2019) · BMC Medical Genetics · doi:10.1186/s12881-019-0886-8 · Cited by 9
Self-citation
Adaptive Changes in Fatty Acid Desaturation Genes in Indigenous Populations of Northeast Siberia
Malyarchuk, B. А., Derenko, M. V., & Denisova, G. A. (2021) · Russian Journal of Genetics · doi:10.1134/s1022795421120103 · Cited by 7
Trends in cardiovascular disease among Inuit in Greenland from 1994 to 2021
Larsen, H. E., Geisler, U. W., Gustafsson, F., Pedersen, M. L., & Jørgensen, M. E. (2024) · Atherosclerosis Plus · doi:10.1016/j.athplu.2024.04.002 · Cited by 7
Self-citation
Association of Genetic and Environmental Factors with Non-Alcoholic Fatty Liver Disease in a Chinese Han Population
Li, Z., Ye, C.-Y., Wang, L., Li, J., & Yang, L. (2020) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph17145217 · Cited by 7
Next-generation sequencing technologies in diabetes research
Fareed, M., Chauhan, W., Fatma, R., Din, I., Afzal, M., & Ahmed, Z. (2022) · Diabetes Epidemiology and Management · doi:10.1016/j.deman.2022.100097 · Cited by 8
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity
Manco, L., Pereira, J., Fidalgo, T., Cunha, M. I. V. A., Pinto‐Gouveia, J., Padez, C. M. P., & Palmeira, L. (2023) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2023.104728 · Cited by 7
Polymorphisms of the Gene Encoding Cytochrome b-245 Beta Chain of NADPH Oxidase: Relationship with Redox Homeostasis Markers and Risk of Type 2 Diabetes Mellitus
Azarova, I. E., Klyosova, E. Y., Коломоец, И. И., Азарова, В. А., Ivakin, V. E., Konoplya, A. I., & Polonikov, A. (2020) · Russian Journal of Genetics · doi:10.1134/s1022795420070017 · Cited by 6
The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders
Andersen, M. K., Jørsboe, E., Skotte, L., Hanghøj, K., Sandholt, C. H., Moltke, I., Grarup, N., Kern, T., Mahendran, Y., Søborg, B., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008544 · Cited by 7
Self-citation
Genetic Features of Lipid and Carbohydrate Metabolism in Arctic Peoples
Malyarchuk, B. А. (2024) · Biochemistry (Moscow) · doi:10.1134/s0006297924070034 · Cited by 6
Unraveling the Genetic Architecture of Obesity: A Path to Personalized Medicine
Kunnathodi, F., Arafat, A. A., Alhazzani, W. A., Mustafa, M., Azmi, S., Ahmad, I., Selan, J. S., Riyasdeen, A., & Alotaibi, H. F. (2025) · Diagnostics · doi:10.3390/diagnostics15121482 · Cited by 7
Genetic Control of Body Weight by the Human Brain Proteome
Gagnon, É., Girard, A., Gobeil, J. B. É., Bourgault, J., Couture, C., Mitchell, P. L., Bouchard, C., Tremblay, A., Mathieu, P., Michaud, A., et al. (2022) · iScience · doi:10.1016/j.atherosclerosis.2022.06.163 · Cited by 4
Protein‐coding mutation in Adcy3 increases adiposity and alters emotional behaviors sex‐dependently in rats
Fitzpatrick, M. K., Szalanczy, A., Beeson, A., Vora, A., Scott, C., Grzybowski, M. N., Klotz, J., Der, N., Chen, R., Geurts, A. M., et al. (2024) · Obesity · doi:10.1002/oby.24178 · Cited by 5
The genetics of obesity: aetiology, prevention and therapy
Bonnefond, A., Bruner, W. S., Grant, S. F. A., Morandi, A., & Froguel, P. (2026) · Nature Metabolism · doi:10.1038/s42255-026-01497-w · Cited by 5
Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource
Koch, C., Khalid, S., Khan, M. Z., Bandyadka, S., Doyon, B., Denning, D. P., Jahanzaib, M., Mian, M. R., Gul, W., Liaqat, M. B., et al. (2026) · Nature · doi:10.1038/s41586-026-10667-5 · Cited by 6
Polygenic Score Approach to Predicting Risk of Metabolic Syndrome
Timasheva, Y., Kochetova, O. V., Balkhiyarova, Z., Korytina, G. F., Prokopenko, I., & Nouwen, A. (2024) · Genes · doi:10.3390/genes16010022 · Cited by 5
Prevalence and clinical features of heart failure in Greenland
Larsen, H. E., Geisler, U. W., Gustafsson, F., Jørgensen, M. E., & Pedersen, M. L. (2023) · International Journal of Circumpolar Health · doi:10.1080/22423982.2023.2178068 · Cited by 5
Self-citation
Health Disparities Among Indigenous Peoples: Exploring the Roles of Evolutionary and Developmental Mismatch on Cardiometabolic Health
Gurven, M., Sarrieddine, A., & Lea, A. J. (2024) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-041222-101445 · Cited by 5
Trait Analysis in Domestic Rabbits (Oryctolagus cuniculus f. domesticus) Using SNP Markers from Genotyping-by-Sequencing Data
Li, C., Li, Y., Zheng, J., Guo, Z., Mei, X., Lei, M., Ren, Y., Zhang, X., Zhang, C., Yang, C., et al. (2022) · Animals · doi:10.3390/ani12162052 · Cited by 5
Molecular mechanisms of the obesity associated with Bardet‐Biedl syndrome: An update
Zhong, B., Nie, N., & Dong, M. (2024) · Obesity Reviews · doi:10.1111/obr.13859 · Cited by 5
Epigenome-wide methylation analysis shows phosphonoethylamine alleviates aberrant DNA methylation in NASH caused by Pcyt2 deficiency
Grapentine, S., Agarwal, P., Dolinsky, V. W., & Bakovic, M. (2025) · PLoS ONE · doi:10.1371/journal.pone.0320510 · Cited by 4
The Genetics of Obesity
Siddiqui, J., Kinney, C. E., & Han, J. C. (2024) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2024.06.001 · Cited by 6
Targeting Odorant Receptors in Adipose Tissue with Food-Derived Odorants: A Novel Approach to Obesity Treatment
Guo, J., Kang, S., Huang, K., & Tong, T. (2024) · Foods · doi:10.3390/foods13233938 · Cited by 4
Nanobody-directed targeting of optogenetic tools to study signaling in the primary ciliumPreprint
Hansen, J. N., Kaiser, F., Klausen, C., Stüven, B., Chong, R., Bönigk, W., Mick, D. U., Möglich, A., Jurisch‐Yaksi, N., Schmidt, F. I., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.04.933440 · Cited by 4
Prevalence, Characteristics, and Genetic Architecture of Avoidant/Restrictive Food Intake Phenotypes
Bjørndal, L. D., Corfield, E. C., Hannigan, L. J., Ayorech, Z., Bulik, C. M., Watson, H. J., Dinkler, L., Chawner, S. J. R. A., Johansson, S., Andreassen, O. A., et al. (2025) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2025.4786 · Cited by 5
Are We Slaves to Our Genes?
Alexander, D. R. (2020) · Perspectives on Science and Christian Faith · doi:10.1017/9781108566520 · Cited by 3
Paracrine signaling by pancreatic islet cilia
Adamson, S. E., & Hughes, J. W. (2024) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2024.100505 · Cited by 4
Genetic architecture of obesity and related metabolic traits — recent insights from isolated populations
Andersen, M. K., Grarup, N., Moltke, I., Albrechtsen, A., & Hansen, T. F. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.02.010 · Cited by 3
Self-citation
Bioinformatics Analysis of Key Genes and Pathways for Obesity Associated Type 2 Diabetes Mellitus as a Therapeutic TargetPreprint
Vastrad, B. M., Tengli, A., Vastrad, C. M., & Kotturshetti, I. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.12.25.424383 · Cited by 3
The effect of diabetes and the diabetogenic TBC1D4 p.Arg684ter variant on kidney function in Inuit in Greenland
Overvad, M., Díaz, L. J., Bjerregaard, P., Pedersen, M. L., Larsen, C. V. L., Grarup, N., Hansen, T. F., Rossing, P. R., & Jørgensen, M. E. (2023) · International Journal of Circumpolar Health · doi:10.1080/22423982.2023.2191406 · Cited by 2
Self-citation
High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland
Thuesen, A. C. B., Backe, M. B., Garcia‐Erill, G., Schubert, M., Hanghøj, K., Moltke, I., Albrechtsen, A., Grarup, N., Gjesing, A. P., Jørgensen, M. E., et al. (2025) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2025.01.002 · Cited by 4
Self-citation
Genetic architecture of human thinness compared to severe obesity
Riveros-Mckay, F., Mistry, V., Bounds, R., Hendricks, A. E., Keogh, J. M., Thomas, H., Henning, E., Corbin, L. J., Society Scientific Group Understanding, O’Rahilly, S., et al. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.11.1 · Cited by 3
Self-citation
An Update on Mendelian Forms of Obesity and their Personalized Treatments
Chen, S., & Meyre, D. (2020) · Springer eBooks · doi:10.1007/978-3-030-53370-0_16 · Cited by 2
A genome-wide association study of childhood adiposity and blood lipids
O’Nunain, K., Sanderson, E. C. M., Holmes, M. V., Smith, G. D., & Richardson, T. G. (2023) · Wellcome Open Research · doi:10.12688/wellcomeopenres.16928.2 · Cited by 2
The association between dietary, physical activity and the DNA methylation of PPARGC1A, HLA-DQA1 and ADCY3 in pregnant women with gestational diabetes mellitus: a nest case-control study
Wang, Y., Ren, J., & Luo, B. (2024) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-024-06673-y · Cited by 1
Exploring Genetic Heterogeneity in Type 2 Diabetes Subtypes
Timasheva, Y., Kochetova, O. V., Balkhiyarova, Z., Avzaletdinova, D. S., Korytina, G. F., Kochetova, T. M., & Nouwen, A. (2025) · Genes · doi:10.3390/genes16101131 · Cited by 1
Transcriptome analysis reveals reduced lipid accumulation and mitochondrial metabolic remodeling in ADCY3-overexpressing adipocytes
Liu, L., Cui, H., Xiang, Z., Dong, N., & Niu, D. (2025) · Functional & Integrative Genomics · doi:10.1007/s10142-025-01789-6 · Cited by 1
Hypothalamic obesity
Farooqi, I. S., & O’Rahilly, S. (2026) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-026-10050-9 · Cited by 2
Genetic Information and How It Flows
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.003 · Cited by 1
Applications of genomic research in pediatric endocrine diseases
Kim, J. H., & Choi, J. (2023) · Korean Journal of Pediatrics · doi:10.3345/cep.2022.00948 · Cited by 2
The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations
Malyarchuk, B. А. (2023) · Vavilov Journal of Genetics and Breeding · doi:10.18699/vjgb-23-45 · Cited by 2
A genome-wide association study of childhood adiposity and blood lipids
O’Nunain, K., Sanderson, E. C. M., Holmes, M. V., Smith, G. D., & Richardson, T. G. (2021) · Wellcome Open Research · doi:10.12688/wellcomeopenres.16928.1 · Cited by 1
Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes
Rodríguez‐López, R., Gimeno-Ferrer, F., do Santos, D. A., Ferrer‐Bolufer, I., Luján, C. G., Alcalá, O. Z., Banacloy, A. G., Cogollos, V. B., & Juan, C. S. (2022) · Current Genomics · doi:10.2174/1389202923666220426093436 · Cited by 1
Phosphoethanolamine reverses aberrant DNA methylation in non-alcoholic steatohepatitis caused by Pcyt2 deficiencyPreprint
Grapentine, S., Agarwal, P., Dolinsky, V. W., & Bakovic, M. (2022) · Research Square · doi:10.21203/rs.3.rs-2143064/v1 · Cited by 1
Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
Trang, B. K., Pahl, M. C., Pippin, J. A., Su, C., Littleton, S. H., Sharma, P. K., Kulkarni, N. N., Ghanem, L. R., Terry, N. A., O’Brien, J. M., et al. (2024) · eLife · doi:10.7554/elife.95411.1.sa0 · Cited by 1
3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesityPreprint
Trang, B. K., Pahl, M. C., Pippin, J. A., Su, C., Littleton, S. H., Sharma, P. K., Kulkarni, N. N., Ghanem, L. R., Terry, N. A., O’Brien, J. M., et al. (2024) · eLife · doi:10.7554/elife.95411.1 · Cited by 1
Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic VariationPreprint
Mikkelsen, J. M., Kanakoglou, D. S., Han, C., Sackett, P. W., Tiberi, S., & Vitting‐Seerup, K. (2025) · medRxiv · doi:10.1101/2025.03.31.25324931 · Cited by 1
Self-citation
The role of common and rare genetic variation on adiposity across childhoodPreprint
Kentistou, K. A., Sundfjord, J., Karimi, R., Kaisinger, L. R., Hofmeister, R. J., Lupu, A. E., Fragoso-Bargas, N., Zhao, Y., Tadross, J. A., Steuernagel, L., et al. (2025) · medRxiv · doi:10.1101/2025.05.13.25327505 · Cited by 3
Gay Genes? Genetics and Sexual Orientation
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.011
Genetic studies of cardiometabolic traits
Riveros-Mckay, F. (2018) · Apollo (University of Cambridge) · doi:10.17863/cam.36670
Quel est le poids des gènes dans l’obésité ?
Froguel, P. (2018) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/s0001-4079(19)30269-9
Definitions of Technical Terms
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.015
Evidence for Natural Selection and Ethnic Diversity at the Adenylate cyclase 3 Gene Associated with Obesity and Type 2 DiabetesPreprint
Yoshiuchi, I. (2020) · Research Square · doi:10.21203/rs.3.rs-18469/v1
What Is Behavioural Genetics?
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.005
Genes and Environments in Human Development
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.004
Genes, Personality and Personality Disorders
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.008
Genes and Mental Health
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.006
Genes and Human Identity
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.013
Characterization of adiposity and inflammation genetic pleiotropy underlying cardiovascular risk factors in Hispanics.
Yaser, M. (2020) · doi:10.18297/etd/3530
Genes, Religiosity and Political Commitment
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.010
Genes, Education and Intelligence
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.007
Are We Slaves to Our Genes?
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.012
Genes, Food, Exercise and Weight
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.009
Genetic Confusion
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.002
References
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.016
Preface
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.001
Genetic Control of Body Weight by the Human Brain ProteomePreprint
Gagnon, É., Girard, A. S., Gobeil, É., Bourgault, J., Couture, C. Y., Mitchell, P. L., Bouchard, C., Tremblay, A., Mathieu, P., Michaud, A., et al. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4054839
Index
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.017
Notes
Alexander, D. R. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108566520.014
Monogene Adipositas
von Schnurbein, J., & Wabitsch, M. (2022) · Springer eBooks · doi:10.1007/978-3-662-59216-8_6
A INTELIGÊNCIA ARTIFICIAL E SUAS IMPLICAÇÕES NO CAMPO DA GENÉTICA
Neto, B. R. D. S. (2023) · doi:10.22533/at.ed.7932305011
OBESIDADE MONOGÊNICA NÃO SINDRÔMICA: DOS GENES À TERAPIA
Salum, K. C. R., Kohlrausch, F. B., & da Fonseca, A. C. P. (2023) · doi:10.22533/at.ed.7932305014
FATORES GENÉTICOS E EPIGENÉTICOS ENVOLVIDOS NO TRATAMENTO DA DOR PELO MINDFULNESS: UMA REVISÃO SISTEMÁTICA
Guerra, A. P. C., & Gigonzac, T. C. V. (2023) · doi:10.22533/at.ed.7932305012
Genética: Molecular, humana e médica 3
Neto, B. R. D. S. (2023) · doi:10.22533/at.ed.793230501
O PAPEL DE SOCS3 EM DISTÚRBIOS METABÓLICOS NA HEPATITE C CRÔNICA: REVISÃO DA LITERATURA
Consuli, T. D. O., & Hoffmann, L. (2023) · doi:10.22533/at.ed.7932305013
Epigenomics of body fat traits in the Norfolk Island population
Cao, T. V. (2023) · Queensland University of Technology · doi:10.5204/thesis.eprints.246031
Additional file 1 of RNA modification-related variants in genomic loci associated with body mass index
Wu, J., Wang, M., Han, L., Zhang, H., Lei, S., Zhang, Y., & Mo, X. (2022) · Figshare · doi:10.6084/m9.figshare.20374594
Additional file 6 of Comprehensive evaluation of the metabolic effects of porcine CRTC3 overexpression on subcutaneous adipocytes with metabolomic and transcriptomic analyses
Liu, J., Li, J., Chen, W., Xie, X., Chu, X., Valencak, T. G., Wang, Y., & Shan, T. (2021) · Figshare · doi:10.6084/m9.figshare.14150842
Additional file 5 of Comprehensive evaluation of the metabolic effects of porcine CRTC3 overexpression on subcutaneous adipocytes with metabolomic and transcriptomic analyses
Liu, J., Li, J., Chen, W., Xie, X., Chu, X., Valencak, T. G., Wang, Y., & Shan, T. (2021) · Figshare · doi:10.6084/m9.figshare.14150839
Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant
Celebioglu, H. B. O., Öztürk, A. P., Poyrazoğlu, Ş., & Tuncer, F. N. (2024) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2024.2024-1-7
The Identification of Key Genes and Biological Pathways in Cardiac Arrest by Integrated Bioinformatics and Next Generation Sequencing Data AnalysisPreprint
Vastrad, B. M., & Vastrad, C. M. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.15.608116 · Cited by 1
3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesityPreprint
Trang, B. K., Pahl, M. C., Pippin, J. A., Su, C., Littleton, S. H., Sharma, P. K., Kulkarni, N. N., Ghanem, L. R., Terry, N. A., O’Brien, J. M., et al. (2024) · eLife · doi:10.7554/elife.95411.2
Genetic Features of Lipid and Carbohydrate Metabolism in Arctic Peoples (Review)
Malyarchuk, B. А. (2024) · Biochemistry (Moscow) · doi:10.31857/s0320972524070032 · Cited by 1
Exploring the Relationship Between Obesity and Metabolic Diseases: A Review of Current Treatments.
Choudhary, S., Raj, A., Kumar, A. K., Biswas, S., & Verma, V. (2025) · INTERNATIONAL JOURNAL OF RESEARCH AND ANALYTICAL REVIEWS · doi:10.56975/ijrar.v12i2.311782
Genetic Predictors of Susceptibility to Metabolic and Cardiovascular Diseases in Indigenous Northern Populations: A Systematic Review
Glushkov, V. V., Menshchikova, A. S., Markov, A. G., Tsymbal, I. N., Babakin, E. A., & Glushkova, E. G. (2025) · Russian Open Medical Journal · doi:10.15275/rusomj.2025.0301
The prevalence of diabetic neuropathy in Greenland and its association with Inuit genetic ancestry – a cross-sectional study
Christensen, M. M. B., Hansen, C. S., Fleischer, J., Senftleber, N. K., Stæger, F. F., Hansen, T. F., Witte, D. R., & Jørgensen, M. E. (2025) · Journal of Diabetes and its Complications · doi:10.1016/j.jdiacomp.2025.109179
Self-citation
Transcriptome-wide isoform and promoter remodeling in DM1 fibroblasts uncovered by long-read RNA sequencing
Ji, X., Zhang, R., Shan, D., Shi, T., Wang, Y., Tang, Y., Zhan, Z., Jiao, Y., Wang, H., Li, J., et al. (2025) · Genomics · doi:10.1016/j.ygeno.2025.111175
Additional file 2 of Comprehensive evaluation of the metabolic effects of porcine CRTC3 overexpression on subcutaneous adipocytes with metabolomic and transcriptomic analyses
Liu, J., Li, J., Chen, W., Xie, X., Chu, X., Valencak, T. G., Wang, Y., & Shan, T. (2021) · Figshare · doi:10.6084/m9.figshare.14150827
Additional file 3 of Comprehensive evaluation of the metabolic effects of porcine CRTC3 overexpression on subcutaneous adipocytes with metabolomic and transcriptomic analyses
Liu, J., Li, J., Chen, W., Xie, X., Chu, X., Valencak, T. G., Wang, Y., & Shan, T. (2021) · Figshare · doi:10.6084/m9.figshare.14150833
Additional file 1 of Comprehensive evaluation of the metabolic effects of porcine CRTC3 overexpression on subcutaneous adipocytes with metabolomic and transcriptomic analyses
Liu, J., Li, J., Chen, W., Xie, X., Chu, X., Valencak, T. G., Wang, Y., & Shan, T. (2021) · Figshare · doi:10.6084/m9.figshare.14150824
Additional file 4 of Comprehensive evaluation of the metabolic effects of porcine CRTC3 overexpression on subcutaneous adipocytes with metabolomic and transcriptomic analyses
Liu, J., Li, J., Chen, W., Xie, X., Chu, X., Valencak, T. G., Wang, Y., & Shan, T. (2021) · Figshare · doi:10.6084/m9.figshare.14150836
Additional file 1 of The association between dietary, physical activity and the DNA methylation of PPARGC1A, HLA-DQA1 and ADCY3 in pregnant women with gestational diabetes mellitus: a nest case-control study
Wang, Y., Ren, J., & Luo, B. (2024) · Figshare · doi:10.6084/m9.figshare.26754121
Additional file 2 of The association between dietary, physical activity and the DNA methylation of PPARGC1A, HLA-DQA1 and ADCY3 in pregnant women with gestational diabetes mellitus: a nest case-control study
Wang, Y., Ren, J., & Luo, B. (2024) · Figshare · doi:10.6084/m9.figshare.26754124
Additional file 1 of Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans
Sazzini, M., Abondio, P., Sarno, S., Gnecchi‐Ruscone, G. A., Ragno, M., Giuliani, C., De Fanti, S., Ojeda‐Granados, C., Boattini, A., Marquis, J., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12355664

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: Grarup, Niels
Moltke, Ida
Andersen, Mette K.
Dalby, Maria
Kern, Timo
Mahendran, Yuvaraj
Jørsboe, Emil
Larsen, Christina V. L.
Gilly, Arthur
Dedoussis, George
Zeggini, Eleftheria
Pedersen, Oluf
Andersson, Robin
Bjerregaard, Peter
Jørgensen, Marit E.
Albrechtsen, Anders
Hansen, Torben
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2018-01-08
Volume: 50
Issue: 2
Pages: 172-174
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/s41588-017-0022-7
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

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks