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Cited by 517

The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

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Pattaro, Cristian, Teumer, Alexander, Gorski, Mathias, Chu, Audrey Y., Li, Man, Mijatovic, Vladan, Garnaas, Maija, Tin, Adrienne, Sorice, Rossella, Li, Yong, Taliun, Daniel, Olden, Matthias, Foster, Meredith, Yang, Qiong, Chen, Ming-Huei, Pers, Tune H., Johnson, Andrew D., Ko, Yi-An, Fuchsberger, Christian, Tayo, Bamidele, Nalls, Michael, Feitosa, Mary F., Isaacs, Aaron, Dehghan, Abbas, d’Adamo, Pio, Adeyemo, Adebowale, Dieffenbach, Aida Karina, Zonderman, Alan B., Nolte, Ilja M., van der Most, Peter J., Wright, Alan F., Shuldiner, Alan R., Morrison, Alanna C., Hofman, Albert, Smith, Albert V., Dreisbach, Albert W., Franke, Andre, Uitterlinden, Andre G., Metspalu, Andres, Tonjes, Anke, Lupo, Antonio, Robino, Antonietta, Johansson, Åsa, Demirkan, Ayse, Kollerits, Barbara, Freedman, Barry I., Ponte, Belen, Oostra, Ben A., Paulweber, Bernhard, Krämer, Bernhard K., Mitchell, Braxton D., Buckley, Brendan M., Peralta, Carmen A., Hayward, Caroline, Helmer, Catherine, Rotimi, Charles N., Shaffer, Christian M., Müller, Christian, Sala, Cinzia, van Duijn, Cornelia M., Saint-Pierre, Aude, Ackermann, Daniel, Shriner, Daniel, Ruggiero, Daniela, Toniolo, Daniela, Lu, Yingchang, Cusi, Daniele, Czamara, Darina, Ellinghaus, David, Siscovick, David S., Ruderfer, Douglas, Gieger, Christian, Grallert, Harald, Rochtchina, Elena, Atkinson, Elizabeth J., Holliday, Elizabeth G., Boerwinkle, Eric, Salvi, Erika, Bottinger, Erwin P., Murgia, Federico, Rivadeneira, Fernando, Ernst, Florian, Kronenberg, Florian, Hu, Frank B., Navis, Gerjan J., Curhan, Gary C., Ehret, George B., Homuth, Georg, Coassin, Stefan, Thun, Gian-Andri, Pistis, Giorgio, Gambaro, Giovanni, Malerba, Giovanni, Montgomery, Grant W., Eiriksdottir, Gudny, Jacobs, Gunnar, Li, Guo, Wichmann, H-Erich, Campbell, Harry, Schmidt, Helena, Wallaschofski, Henri, Völzke, Henry, Brenner, Hermann, Kroemer, Heyo K., Kramer, Holly, Lin, Honghuang, Leach, I. 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S., Carroll, Robert J., Penninx, Brenda W., Scott, Rodney J., Katz, Ronit, Sedaghat, Sanaz, Wild, Sarah H., Kardia, Sharon L. R., Ulivi, Sheila, Hwang, Shih-Jen, Enroth, Stefan, Kloiber, Stefan, Trompet, Stella, Stengel, Benedicte, Hancock, Stephen J., Turner, Stephen T., Rosas, Sylvia E., Stracke, Sylvia, Harris, Tamara B., Zeller, Tanja, Zemunik, Tatijana, Lehtimäki, Terho, Illig, Thomas, Aspelund, Thor, Nikopensius, Tiit, Esko, Tonu, Tanaka, Toshiko, Gyllensten, Ulf, Völker, Uwe, Emilsson, Valur, Vitart, Veronique, Aalto, Ville, Gudnason, Vilmundur, Chouraki, Vincent, Chen, Wei-Min, Igl, Wilmar, März, Winfried, Koenig, Wolfgang, Lieb, Wolfgang, Loos, Ruth J. F., Liu, Yongmei, Snieder, Harold, Pramstaller, Peter P., Parsa, Afshin, O’Connell, Jeffrey R., Susztak, Katalin, Hamet, Pavel, Tremblay, Johanne, de Boer, Ian H., Böger, Carsten A., Goessling, Wolfram, Chasman, Daniel I., Köttgen, Anna, Kao, W. H. Linda, Fox, Caroline S.·2016·Nature Communications
DOI 10.1038/ncomms10023
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Abstract

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

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Pattaro, C., Teumer, A., Gorski, M., Chu, A. Y., Li, M., Mijatovic, V., Garnaas, M., Tin, A., Sorice, R., Li, Y., Taliun, D., Olden, M., Foster, M., Yang, Q., Chen, M.-H., Pers, T. H., Johnson, A. D., Ko, Y.-A., Fuchsberger, C., Tayo, B., Nalls, M., Feitosa, M. F., Isaacs, A., Dehghan, A., d’Adamo, P., Adeyemo, A., Dieffenbach, A. K., Zonderman, A. B., Nolte, I. M., van der Most, P. J., Wright, A. F., Shuldiner, A. R., Morrison, A. C., Hofman, A., Smith, A. V., Dreisbach, A. W., Franke, A., Uitterlinden, A. G., Metspalu, A., Tonjes, A., Lupo, A., Robino, A., Johansson, Å., Demirkan, A., Kollerits, B., Freedman, B. I., Ponte, B., Oostra, B. A., Paulweber, B., Krämer, B. K., Mitchell, B. D., Buckley, B. M., Peralta, C. A., Hayward, C., Helmer, C., Rotimi, C. N., Shaffer, C. M., Müller, C., Sala, C., van Duijn, C. M., Saint-Pierre, A., Ackermann, D., Shriner, D., Ruggiero, D., Toniolo, D., Lu, Y., Cusi, D., Czamara, D., Ellinghaus, D., Siscovick, D. S., Ruderfer, D., Gieger, C., Grallert, H., Rochtchina, E., Atkinson, E. J., Holliday, E. G., Boerwinkle, E., Salvi, E., Bottinger, E. P., Murgia, F., Rivadeneira, F., Ernst, F., Kronenberg, F., Hu, F. B., Navis, G. J., Curhan, G. C., Ehret, G. B., Homuth, G., Coassin, S., Thun, G.-A., Pistis, G., Gambaro, G., Malerba, G., Montgomery, G. W., Eiriksdottir, G., Jacobs, G., Li, G., Wichmann, H.-E., Campbell, H., Schmidt, H., Wallaschofski, H., Völzke, H., Brenner, H., Kroemer, H. K., Kramer, H., Lin, H., Leach, I. M., Ford, I., Guessous, I., Rudan, I., Prokopenko, I., Borecki, I., Heid, I. M., Kolcic, I., Persico, I., Jukema, J. W., Wilson, J. F., Felix, J. F., Divers, J., Lambert, J.-C., Stafford, J. M., Gaspoz, J.-M., Smith, J. A., Faul, J. D., Wang, J. J., Ding, J., Hirschhorn, J. N., Attia, J., Whitfield, J. B., Chalmers, J., Viikari, J., Coresh, J., Denny, J. C., Karjalainen, J., Fernandes, J. K., Endlich, K., Butterbach, K., Keene, K. L., Lohman, K., Portas, L., Launer, L. J., Lyytikäinen, L.-P., Yengo, L., Franke, L., Ferrucci, L., Rose, L. M., Kedenko, L., Rao, M., Struchalin, M., Kleber, M. E., Cavalieri, M., Haun, M., Cornelis, M. C., Ciullo, M., Pirastu, M., de Andrade, M., McEvoy, M. A., Woodward, M., Adam, M., Cocca, M., Nauck, M., Imboden, M., Waldenberger, M., Pruijm, M., Metzger, M., Stumvoll, M., Evans, M. K., Sale, M. M., Kähönen, M., Boban, M., Bochud, M., Rheinberger, M., Verweij, N., Bouatia-Naji, N., Martin, N. G., Hastie, N., Probst-Hensch, N., Soranzo, N., Devuyst, O., Raitakari, O., Gottesman, O., Franco, O. H., Polasek, O., Gasparini, P., Munroe, P. B., Ridker, P. M., Mitchell, P., Muntner, P., Meisinger, C., Smit, J. H., ICBP Consortium, Abecasis, G. R., Adair, L. S., Alexander, M., Altshuler, D., Amin, N., Arking, D. E., Arora, P., Aulchenko, Y., Bakker, S. J. L., Bandinelli, S., Barroso, I., Beckmann, J. S., Beilby, J. P., Bergman, R. N., Bergmann, S., Bis, J. C., Boehnke, M., Bonnycastle, L. L., Bornstein, S. R., Bots, M. L., Bragg-Gresham, J. L., Brand, S.-M., Brand, E., Braund, P. S., Brown, M. J., Burton, P. R., Casas, J. P., Caulfield, M. J., Chakravarti, A., Chambers, J. C., Chandak, G. R., Chang, Y.-P. C., Charchar, F. J., Chaturvedi, N., Shin Cho, Y., Clarke, R., Collins, F. S., Collins, R., Connell, J. M., Cooper, J. A., Cooper, M. N., Cooper, R. S., Corsi, A. M., Dörr, M., Dahgam, S., Danesh, J., Smith, G. D., Day, I. N. M., Deloukas, P., Denniff, M., Dominiczak, A. F., Dong, Y., Doumatey, A., Elliott, P., Elosua, R., Erdmann, J., Eyheramendy, S., Farrall, M., Fava, C., Forrester, T., Fowkes, F. G. R., Fox, E. R., Frayling, T. M., Galan, P., Ganesh, S. K., Garcia, M., Gaunt, T. R., Glazer, N. L., Go, M. J., Goel, A., Grässler, J., Grobbee, D. E., Groop, L., Guarrera, S., Guo, X., Hadley, D., Hamsten, A., Han, B.-G., Hardy, R., Hartikainen, A.-L., Heath, S., Heckbert, S. R., Hedblad, B., Hercberg, S., Hernandez, D., Hicks, A. A., Hilton, G., Hingorani, A. D., Bolton, J. A. H., Hopewell, J. 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Venue
Nature Communications
Publisher
Springer Science and Business Media LLC
Published
2016-01-21
Volume
7
Issue
1
Pages
10023-10023
ISSN
2041-1723 (ISSN-L)
DOI
10.1038/ncomms10023
OpenAlex
W2411709723
Cited by
517
References
49
FWCI
51.86
Type
journal article
Language
en
Open access
gold

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.

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This page
CoChat. (2026). Citation check: Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. https://app.cochat.ai/papers/10.1038/ncomms10023
The paper
Pattaro, C., Teumer, A., Gorski, M., Chu, A. Y., Li, M., Mijatovic, V., Garnaas, M., Tin, A., Sorice, R., Li, Y., Taliun, D., Olden, M., Foster, M., Yang, Q., Chen, M.-H., Pers, T. H., Johnson, A. D., Ko, Y.-A., Fuchsberger, C., . . . Fox, C. S. (2016). Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature Communications. https://doi.org/10.1038/ncomms10023

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.