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Cited by 704Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsDiabetes and associated disorders

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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Mahajan, Anubha, Spracklen, Cassandra N., Zhang, Weihua, Ng, Maggie C. Y., Petty, Lauren E., Kitajima, Hidetoshi, Yu, Grace Z., Rüeger, Sina +347 more·2022·Nature Genetics
DOI 10.1038/s41588-022-01058-3PMC PMC9179018

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Abstract

), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background.

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  • Integrating disease genetics with molecular QTLs through statistical analyses helps identify molecular drivers of biological processes implicated in disease.

    “Integrating disease genetics with molecular quantitative trait loci (QTLs) through statistical analyses [colocalization, Mendelian randomization (MR), and transcriptome-wide association study] helps identify molecular drivers of biological processes implicated in disease”

    From Low overlap of plasma and CSF protein quantitative trait loci affects protein discovery for neurological disease (2026) · cites this paper as [2]

    The Results section (“Multi-omics integration highlights candidate effector genes”) reports that integrating T2D genetic associations with molecular QTLs through Bayesian colocalization identified candidate effector genes. The copy does not support the citing sentence’s inclusion of Mendelian randomization or transcriptome-wide association studies as methods used for that purpose; searches for both terms found no relevant passage. No page numbers were provided. (LLM, conf=0.86)

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Authors
Mahajan, A., Spracklen, C. N., Zhang, W., Ng, M. C. Y., Petty, L. E., Kitajima, H., Yu, G. Z., Rüeger, S., Speidel, L., Kim, Y. J., Horikoshi, M., Mercader, J. M., Taliun, D., Moon, S., Kwak, S.-H., Robertson, N. R., Rayner, N. W., Loh, M., Kim, B.-J., Chiou, J., Miguel-Escalada, I., della Briotta Parolo, P., Lin, K., Bragg, F., Preuss, M. H., Takeuchi, F., Nano, J., Guo, X., Lamri, A., Nakatochi, M., Scott, R. A., Lee, J.-J., Huerta-Chagoya, A., Graff, M., Chai, J.-F., Parra, E. J., Yao, J., Bielak, L. F., Tabara, Y., Hai, Y., Steinthorsdottir, V., Cook, J. P., Kals, M., Grarup, N., Schmidt, E. M., Pan, I., Sofer, T., Wuttke, M., Sarnowski, C., Gieger, C., Nousome, D., Trompet, S., Long, J., Sun, M., Tong, L., Chen, W.-M., Ahmad, M., Noordam, R., Lim, V. J. Y., Tam, C. H. T., Joo, Y. Y., Chen, C.-H., Raffield, L. M., Lecoeur, C., Prins, B. P., Nicolas, A., Yanek, L. R., Chen, G., Jensen, R. A., Tajuddin, S., Kabagambe, E. K., An, P., Xiang, A. H., Choi, H. S., Cade, B. E., Tan, J., Flanagan, J., Abaitua, F., Adair, L. S., Adeyemo, A., Aguilar-Salinas, C. A., Akiyama, M., Anand, S. S., Bertoni, A., Bian, Z., Bork-Jensen, J., Brandslund, I., Brody, J. A., Brummett, C. M., Buchanan, T. A., Canouil, M., Chan, J. C. N., Chang, L.-C., Chee, M.-L., Chen, J., Chen, S.-H., Chen, Y.-T., Chen, Z., Chuang, L.-M., Cushman, M., Das, S. K., de Silva, H. J., Dedoussis, G., Dimitrov, L., Doumatey, A. P., Du, S., Duan, Q., Eckardt, K.-U., Emery, L. S., Evans, D. S., Evans, M. K., Fischer, K., Floyd, J. S., Ford, I., Fornage, M., Franco, O. H., Frayling, T. M., Freedman, B. I., Fuchsberger, C., Genter, P., Gerstein, H. C., Giedraitis, V., González-Villalpando, C., González-Villalpando, M. E., Goodarzi, M. O., Gordon-Larsen, P., Gorkin, D., Gross, M., Guo, Y., Hackinger, S., Han, S., Hattersley, A. T., Herder, C., Howard, A.-G., Hsueh, W., Huang, M., Huang, W., Hung, Y.-J., Hwang, M. Y., Hwu, C.-M., Ichihara, S., Ikram, M. A., Ingelsson, M., Islam, M. T., Isono, M., Jang, H.-M., Jasmine, F., Jiang, G., Jonas, J. B., Jørgensen, M. E., Jørgensen, T., Kamatani, Y., Kandeel, F. R., Kasturiratne, A., Katsuya, T., Kaur, V., Kawaguchi, T., Keaton, J. M., Kho, A. N., Khor, C.-C., Kibriya, M. G., Kim, D.-H., Kohara, K., Kriebel, J., Kronenberg, F., Kuusisto, J., Läll, K., Lange, L. A., Lee, M.-S., Lee, N. R., Leong, A., Li, L., Li, Y., Li-Gao, R., Ligthart, S., Lindgren, C. M., Linneberg, A., Liu, C.-T., Liu, J., Locke, A. E., Louie, T., Luan, J., Luk, A. O., Luo, X., Lv, J., Lyssenko, V., Mamakou, V., Mani, K. R., Meitinger, T., Metspalu, A., Morris, A. D., Nadkarni, G. N., Nadler, J. L., Nalls, M. A., Nayak, U., Nongmaithem, S. S., Ntalla, I., Okada, Y., Orozco, L., Patel, S. R., Pereira, M. A., Peters, A., Pirie, F. J., Porneala, B., Prasad, G., Preissl, S., Rasmussen-Torvik, L. J., Reiner, A. P., Roden, M., Rohde, R., Roll, K., Sabanayagam, C., Sander, M., Sandow, K., Sattar, N., Schönherr, S., Schurmann, C., Shahriar, M., Shi, J., Shin, D. M., Shriner, D., Smith, J. A., So, W. Y., Stančáková, A., Stilp, A. M., Strauch, K., Suzuki, K., Takahashi, A., Taylor, K. D., Thorand, B., Thorleifsson, G., Thorsteinsdottir, U., Tomlinson, B., Torres, J. M., Tsai, F.-J., Tuomilehto, J., Tusie-Luna, T., Udler, M. S., Valladares-Salgado, A., van Dam, R. M., van Klinken, J. B., Varma, R., Vujkovic, M., Wacher-Rodarte, N., Wheeler, E., Whitsel, E. A., Wickremasinghe, A. R., van Dijk, K. W., Witte, D. R., Yajnik, C. S., Yamamoto, K., Yamauchi, T., Yengo, L., Yoon, K., Yu, C., Yuan, J.-M., Yusuf, S., Zhang, L., Zheng, W., FinnGen, Rüeger, S., della Briotta Parolo, P., eMERGE Consortium, Joo, Y. Y., Hayes, M. G., Raffel, L. J., Igase, M., Ipp, E., Redline, S., Cho, Y. S., Lind, L., Province, M. A., Hanis, C. L., Peyser, P. A., Ingelsson, E., Zonderman, A. B., Psaty, B. M., Wang, Y.-X., Rotimi, C. N., Becker, D. M., Matsuda, F., Liu, Y., Zeggini, E., Yokota, M., Rich, S. S., Kooperberg, C., Pankow, J. S., Engert, J. C., Chen, Y.-D. I., Froguel, P., Wilson, J. G., Sheu, W. H. H., Kardia, S. L. R., Wu, J.-Y., Hayes, M. G., Ma, R. C. W., Wong, T.-Y., Groop, L., Mook-Kanamori, D. O., Chandak, G. R., Collins, F. S., Bharadwaj, D., Paré, G., Sale, M. M., Ahsan, H., Motala, A. A., Shu, X.-O., Park, K.-S., Jukema, J. W., Cruz, M., McKean-Cowdin, R., Grallert, H., Cheng, C.-Y., Bottinger, E. P., Dehghan, A., Tai, E.-S., Dupuis, J., Kato, N., Laakso, M., Köttgen, A., Koh, W.-P., Palmer, C. N. A., Liu, S., Abecasis, G., Kooner, J. S., Loos, R. J. F., North, K. E., Haiman, C. A., Florez, J. C., Saleheen, D., Hansen, T., Pedersen, O., Mägi, R., Langenberg, C., Wareham, N. J., Maeda, S., Kadowaki, T., Lee, J., Millwood, I. Y., Walters, R. G., Stefansson, K., Myers, S. R., Ferrer, J., Gaulton, K. J., Meigs, J. B., Mohlke, K. L., Gloyn, A. L., Bowden, D. W., Below, J. E., Chambers, J. C., Sim, X., Boehnke, M., Rotter, J. I., McCarthy, M. I., & Morris, A. P.
Affiliations
  • Centre for Human Genetics (GB)
  • University of North Carolina at Chapel Hill (US)
  • Ealing Hospital (GB)
  • Vanderbilt University (US)
  • The Francis Crick Institute (GB)
  • Korea National Institute of Health (KR)
  • RIKEN Center for Integrative Medical Sciences (JP)
  • Broad Institute (US)
  • University of Michigan (US)
  • Agency for Science, Technology and Research (SG)
  • Pfizer (United States) (US)
  • Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas (ES)
  • University of Oxford (GB)
  • Icahn School of Medicine at Mount Sinai (US)
  • National Center for Global Health and Medicine (JP)
  • Erasmus MC (NL)
  • The Lundquist Institute (US)
  • Population Health Research Institute (CA)
  • Nagoya University (JP)
  • University of Cambridge (GB)
  • National University of Singapore (SG)
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  • Leiden University Medical Center (NL)
  • University of Virginia (US)
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  • Chinese University of Hong Kong (HK)
  • Institute of Biomedical Sciences, Academia Sinica (TW)
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Corresponding author
  • Mahajan, Anubha
  • McCarthy, Mark I.
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2022-05
Volume
54
Issue
5
Pages
560-572
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/s41588-022-01058-3
PMC
PMC9179018
OpenAlex
W4280552086
Cited by
704
References
17
Citations by year
2026: 140 · 2025: 172 · 2024: 201 · 2023: 135 · 2022: 42 · 2021: 11 · 2020: 3
FWCI
21.55
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journal article
Language
en
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  • University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, other-oa)
  • Open Research (University of Surrey) (submittedVersion, cc-by)
  • STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
  • UNC Libraries
Funders
All funding listed in Supplementary Note.
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Keywords
type 2 diabetes, fine mapping, polygenic risk score, molecular mechanisms
MeSH terms
Diabetes Mellitus, Type 2, Ethnicity, Humans, Risk Factors, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study

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 ›

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