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Cited by 846

The DOI matches its Crossref record; 92 of the 92 references it cites were found in a registry or an index.

A catalog of genetic loci associated with kidney function from analyses of a million individuals

Open access
Lifelines Cohort Study, Wuttke, Matthias, V. A. Million Veteran Program, Li, Yong, Li, Man, Sieber, Karsten B., Feitosa, Mary F., Gorski, Mathias, Tin, Adrienne, Wang, Lihua, Chu, Audrey Y., Hoppmann, Anselm, Kirsten, Holger, Giri, Ayush, Chai, Jin-Fang, Sveinbjornsson, Gardar, Tayo, Bamidele O., Nutile, Teresa, Fuchsberger, Christian, Marten, Jonathan, Cocca, Massimiliano, Ghasemi, Sahar, Xu, Yizhe, Horn, Katrin, Noce, Damia, van der Most, Peter J., Sedaghat, Sanaz, Yu, Zhi, Akiyama, Masato, Afaq, Saima, Ahluwalia, Tarunveer S., Almgren, Peter, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan J. L., Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L., Biino, Ginevra, Boehnke, Michael, Boerwinkle, Eric, Boissel, Mathilde, Bottinger, Erwin P., Boutin, Thibaud S., Brenner, Hermann, Brumat, Marco, Burkhardt, Ralph, Butterworth, Adam S., Campana, Eric, Campbell, Archie, Campbell, Harry, Canouil, Mickaël, Carroll, Robert J., Catamo, Eulalia, Chambers, John C., Chee, Miao-Ling, Chee, Miao-Li, Chen, Xu, Cheng, Ching-Yu, Cheng, Yurong, Christensen, Kaare, Cifkova, Renata, Ciullo, Marina, Concas, Maria Pina, Cook, James P., Coresh, Josef, Corre, Tanguy, Sala, Cinzia Felicita, Cusi, Daniele, Danesh, John, Daw, E. Warwick, de Borst, Martin H., De Grandi, Alessandro, de Mutsert, Renée, de Vries, Aiko P. J., Degenhardt, Frauke, Delgado, Graciela, Demirkan, Ayse, Di Angelantonio, Emanuele, Dittrich, Katalin, Divers, Jasmin, Dorajoo, Rajkumar, Eckardt, Kai-Uwe, Ehret, Georg, Elliott, Paul, Endlich, Karlhans, Evans, Michele K., Felix, Janine F., Foo, Valencia Hui Xian, Franco, Oscar H., Franke, Andre, Freedman, Barry I., Freitag-Wolf, Sandra, Friedlander, Yechiel, Froguel, Philippe, Gansevoort, Ron T., Gao, He, Gasparini, Paolo, Gaziano, J. Michael, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Giulianini, Franco, Gögele, Martin, Gordon, Scott D., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B., Hartman, Catharina A., Hayward, Caroline, Hellwege, Jacklyn N., Heng, Chew-Kiat, Hicks, Andrew A., Hofer, Edith, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M. Arfan, Indridason, Olafur S., Ingelsson, Erik, Ising, Marcus, Jaddoe, Vincent W. V., Jakobsdottir, Johanna, Jonas, Jost B., Joshi, Peter K., Josyula, Navya Shilpa, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kammerer, Candace M., Kanai, Masahiro, Kastarinen, Mika, Kerr, Shona M., Khor, Chiea-Chuen, Kiess, Wieland, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Körner, Antje, Kovacs, Peter, Kraja, Aldi T., Krajcoviechova, Alena, Kramer, Holly, Krämer, Bernhard K., Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, Kuokkanen, Mikko, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lange, Leslie A., Langefeld, Carl D., Lee, Jeannette Jen-Mai, Lehne, Benjamin, Lehtimäki, Terho, Lieb, Wolfgang, Lim, Su-Chi, Lind, Lars, Lindgren, Cecilia M., Liu, Jun, Liu, Jianjun, Loeffler, Markus, Loos, Ruth J. F., Lucae, Susanne, Lukas, Mary Ann, Lyytikäinen, Leo-Pekka, Mägi, Reedik, Magnusson, Patrik K. E., Mahajan, Anubha, Martin, Nicholas G., Martins, Jade, März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mikaelsdottir, Evgenia K., Milaneschi, Yuri, Miliku, Kozeta, Mishra, Pashupati P., Mohlke, Karen L., Mononen, Nina, Montgomery, Grant W., Mook-Kanamori, Dennis O., Mychaleckyj, Josyf C., Nadkarni, Girish N., Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., Noordam, Raymond, O’Connell, Jeffrey, O’Donoghue, Michelle L., Olafsson, Isleifur, Oldehinkel, Albertine J., Orho-Melander, Marju, Ouwehand, Willem H., Padmanabhan, Sandosh, Palmer, Nicholette D., Palsson, Runolfur, Penninx, Brenda W. J. H., Perls, Thomas, Perola, Markus, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Podgornaia, Anna I., Polasek, Ozren, Ponte, Belen, Porteous, David J., Poulain, Tanja, Pramstaller, Peter P., Preuss, Michael H., Prins, Bram P., Province, Michael A., Rabelink, Ton J., Raffield, Laura M., Raitakari, Olli T., Reilly, Dermot F., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Ridker, Paul M., Rivadeneira, Fernando, Rizzi, Federica, Roberts, David J., Robino, Antonietta, Rossing, Peter, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A., Saba, Yasaman, Sabanayagam, Charumathi, Salomaa, Veikko, Salvi, Erika, Saum, Kai-Uwe, Schmidt, Helena, Schmidt, Reinhold, Schöttker, Ben, Schulz, Christina-Alexandra, Schupf, Nicole, Shaffer, Christian M., Shi, Yuan, Smith, Albert V., Smith, Blair H., Soranzo, Nicole, Spracklen, Cassandra N., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Svensson, Per O., Szymczak, Silke, Tai, E-Shyong, Tajuddin, Salman M., Tan, Nicholas Y. Q., Taylor, Kent D., Teren, Andrej, Tham, Yih-Chung, Thiery, Joachim, Thio, Chris H. L., Thomsen, Hauke, Thorleifsson, Gudmar, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Tzoulaki, Ioanna, Uitterlinden, André G., Vaccargiu, Simona, van Dam, Rob M., van der Harst, Pim, van Duijn, Cornelia M., Velez Edward, Digna R., Verweij, Niek, Vogelezang, Suzanne, Völker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Wallentin, Lars, Wang, Ya Xing, Wang, Chaolong, Waterworth, Dawn M., Bin Wei, Wen, White, Harvey, Whitfield, John B., Wild, Sarah H., Wilson, James F., Wojczynski, Mary K., Wong, Charlene, Wong, Tien-Yin, Xu, Liang, Yang, Qiong, Yasuda, Masayuki, Yerges-Armstrong, Laura M., Zhang, Weihua, Zonderman, Alan B., Rotter, Jerome I., Bochud, Murielle, Psaty, Bruce M., Vitart, Veronique, Wilson, James G., Dehghan, Abbas, Parsa, Afshin, Chasman, Daniel I., Ho, Kevin, Morris, Andrew P., Devuyst, Olivier, Akilesh, Shreeram, Pendergrass, Sarah A., Sim, Xueling, Böger, Carsten A., Okada, Yukinori, Edwards, Todd L., Snieder, Harold, Stefansson, Kari, Hung, Adriana M., Heid, Iris M., Scholz, Markus, Teumer, Alexander, Köttgen, Anna, Pattaro, Cristian·2019·Nature Genetics
DOI 10.1038/s41588-019-0407-x
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Abstract

Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.

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Authors
Study, L. C., Wuttke, M., Program, V. A. M. V., Li, Y., Li, M., Sieber, K. B., Feitosa, M. F., Gorski, M., Tin, A., Wang, L., Chu, A. Y., Hoppmann, A., Kirsten, H., Giri, A., Chai, J.-F., Sveinbjornsson, G., Tayo, B. O., Nutile, T., Fuchsberger, C., Marten, J., Cocca, M., Ghasemi, S., Xu, Y., Horn, K., Noce, D., van der Most, P. J., Sedaghat, S., Yu, Z., Akiyama, M., Afaq, S., Ahluwalia, T. S., Almgren, P., Amin, N., Ärnlöv, J., Bakker, S. J. L., Bansal, N., Baptista, D., Bergmann, S., Biggs, M. L., Biino, G., Boehnke, M., Boerwinkle, E., Boissel, M., Bottinger, E. P., Boutin, T. S., Brenner, H., Brumat, M., Burkhardt, R., Butterworth, A. S., Campana, E., Campbell, A., Campbell, H., Canouil, M., Carroll, R. J., Catamo, E., Chambers, J. C., Chee, M.-L., Chee, M.-L., Chen, X., Cheng, C.-Y., Cheng, Y., Christensen, K., Cifkova, R., Ciullo, M., Concas, M. P., Cook, J. P., Coresh, J., Corre, T., Sala, C. F., Cusi, D., Danesh, J., Daw, E. W., de Borst, M. H., De Grandi, A., de Mutsert, R., de Vries, A. P. J., Degenhardt, F., Delgado, G., Demirkan, A., Di Angelantonio, E., Dittrich, K., Divers, J., Dorajoo, R., Eckardt, K.-U., Ehret, G., Elliott, P., Endlich, K., Evans, M. K., Felix, J. F., Foo, V. H. X., Franco, O. H., Franke, A., Freedman, B. I., Freitag-Wolf, S., Friedlander, Y., Froguel, P., Gansevoort, R. T., Gao, H., Gasparini, P., Gaziano, J. M., Giedraitis, V., Gieger, C., Girotto, G., Giulianini, F., Gögele, M., Gordon, S. D., Gudbjartsson, D. F., Gudnason, V., Haller, T., Hamet, P., Harris, T. B., Hartman, C. A., Hayward, C., Hellwege, J. N., Heng, C.-K., Hicks, A. A., Hofer, E., Huang, W., Hutri-Kähönen, N., Hwang, S.-J., Ikram, M. A., Indridason, O. S., Ingelsson, E., Ising, M., Jaddoe, V. W. V., Jakobsdottir, J., Jonas, J. B., Joshi, P. K., Josyula, N. S., Jung, B., Kähönen, M., Kamatani, Y., Kammerer, C. M., Kanai, M., Kastarinen, M., Kerr, S. M., Khor, C.-C., Kiess, W., Kleber, M. E., Koenig, W., Kooner, J. S., Körner, A., Kovacs, P., Kraja, A. T., Krajcoviechova, A., Kramer, H., Krämer, B. K., Kronenberg, F., Kubo, M., Kühnel, B., Kuokkanen, M., Kuusisto, J., La Bianca, M., Laakso, M., Lange, L. A., Langefeld, C. D., Lee, J. J.-M., Lehne, B., Lehtimäki, T., Lieb, W., Lim, S.-C., Lind, L., Lindgren, C. M., Liu, J., Liu, J., Loeffler, M., Loos, R. J. F., Lucae, S., Lukas, M. A., Lyytikäinen, L.-P., Mägi, R., Magnusson, P. K. E., Mahajan, A., Martin, N. G., Martins, J., März, W., Mascalzoni, D., Matsuda, K., Meisinger, C., Meitinger, T., Melander, O., Metspalu, A., Mikaelsdottir, E. K., Milaneschi, Y., Miliku, K., Mishra, P. P., Mohlke, K. L., Mononen, N., Montgomery, G. W., Mook-Kanamori, D. O., Mychaleckyj, J. C., Nadkarni, G. N., Nalls, M. A., Nauck, M., Nikus, K., Ning, B., Nolte, I. M., Noordam, R., O’Connell, J., O’Donoghue, M. L., Olafsson, I., Oldehinkel, A. J., Orho-Melander, M., Ouwehand, W. H., Padmanabhan, S., Palmer, N. D., Palsson, R., Penninx, B. W. J. H., Perls, T., Perola, M., Pirastu, M., Pirastu, N., Pistis, G., Podgornaia, A. I., Polasek, O., Ponte, B., Porteous, D. J., Poulain, T., Pramstaller, P. P., Preuss, M. H., Prins, B. P., Province, M. A., Rabelink, T. J., Raffield, L. M., Raitakari, O. T., Reilly, D. F., Rettig, R., Rheinberger, M., Rice, K. M., Ridker, P. M., Rivadeneira, F., Rizzi, F., Roberts, D. J., Robino, A., Rossing, P., Rudan, I., Rueedi, R., Ruggiero, D., Ryan, K. A., Saba, Y., Sabanayagam, C., Salomaa, V., Salvi, E., Saum, K.-U., Schmidt, H., Schmidt, R., Schöttker, B., Schulz, C.-A., Schupf, N., Shaffer, C. M., Shi, Y., Smith, A. V., Smith, B. H., Soranzo, N., Spracklen, C. N., Strauch, K., Stringham, H. M., Stumvoll, M., Svensson, P. O., Szymczak, S., Tai, E.-S., Tajuddin, S. M., Tan, N. Y. Q., Taylor, K. D., Teren, A., Tham, Y.-C., Thiery, J., Thio, C. H. L., Thomsen, H., Thorleifsson, G., Toniolo, D., Tönjes, A., Tremblay, J., Tzoulaki, I., Uitterlinden, A. G., Vaccargiu, S., van Dam, R. M., van der Harst, P., van Duijn, C. M., Velez Edward, D. R., Verweij, N., Vogelezang, S., Völker, U., Vollenweider, P., Waeber, G., Waldenberger, M., Wallentin, L., Wang, Y. X., Wang, C., Waterworth, D. M., Bin Wei, W., White, H., Whitfield, J. B., Wild, S. H., Wilson, J. F., Wojczynski, M. K., Wong, C., Wong, T.-Y., Xu, L., Yang, Q., Yasuda, M., Yerges-Armstrong, L. M., Zhang, W., Zonderman, A. B., Rotter, J. I., Bochud, M., Psaty, B. M., Vitart, V., Wilson, J. G., Dehghan, A., Parsa, A., Chasman, D. I., Ho, K., Morris, A. P., Devuyst, O., Akilesh, S., Pendergrass, S. A., Sim, X., Böger, C. A., Okada, Y., Edwards, T. L., Snieder, H., Stefansson, K., Hung, A. M., Heid, I. M., Scholz, M., Teumer, A., Köttgen, A., & Pattaro, C.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2019-05-31
Volume
51
Issue
6
Pages
957-972
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/s41588-019-0407-x
OpenAlex
W2947278243
Cited by
846
References
92
FWCI
47.95
Type
journal article
Language
en
Open access
hybrid

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Study, L. C., Wuttke, M., Program, V. A. M. V., Li, Y., Li, M., Sieber, K. B., Feitosa, M. F., Gorski, M., Tin, A., Wang, L., Chu, A. Y., Hoppmann, A., Kirsten, H., Giri, A., Chai, J.-F., Sveinbjornsson, G., Tayo, B. O., Nutile, T., Fuchsberger, C., . . . Pattaro, C. (2019). A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nature Genetics. https://doi.org/10.1038/s41588-019-0407-x

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