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Cited by 399

The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

Open access
German Chronic Kidney Disease Study, Tin, Adrienne, Lifelines Cohort Study, V. A. Million Veteran Program, Marten, Jonathan, Halperin Kuhns, Victoria L., Li, Yong, Wuttke, Matthias, Kirsten, Holger, Sieber, Karsten B., Qiu, Chengxiang, Gorski, Mathias, Yu, Zhi, Giri, Ayush, Sveinbjornsson, Gardar, Li, Man, Chu, Audrey Y., Hoppmann, Anselm, O’Connor, Luke J., Prins, Bram, Nutile, Teresa, Noce, Damia, Akiyama, Masato, Cocca, Massimiliano, Ghasemi, Sahar, van der Most, Peter J., Horn, Katrin, Xu, Yizhe, Fuchsberger, Christian, Sedaghat, Sanaz, Afaq, Saima, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan J. L., Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L., Biino, Ginevra, Boerwinkle, Eric, Bottinger, Erwin P., Boutin, Thibaud S., Brumat, Marco, Burkhardt, Ralph, Campana, Eric, Campbell, Archie, Campbell, Harry, Carroll, Robert J., Catamo, Eulalia, Chambers, John C., Ciullo, Marina, Concas, Maria Pina, Coresh, Josef, Corre, Tanguy, Cusi, Daniele, Felicita, Sala Cinzia, de Borst, Martin H., De Grandi, Alessandro, de Mutsert, Renée, de Vries, Aiko P. J., Delgado, Graciela, Demirkan, Ayşe, Devuyst, Olivier, Dittrich, Katalin, Eckardt, Kai-Uwe, Ehret, Georg, Endlich, Karlhans, Evans, Michele K., Gansevoort, Ron T., Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Gögele, Martin, Gordon, Scott D., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B., Hayward, Caroline, Hicks, Andrew A., Hofer, Edith, Holm, Hilma, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M. Arfan, Lewis, Raychel M., Ingelsson, Erik, Jakobsdottir, Johanna, Jonsdottir, Ingileif, Jonsson, Helgi, Joshi, Peter K., Josyula, Navya Shilpa, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Kerr, Shona M., Kiess, Wieland, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Körner, Antje, Kovacs, Peter, Krämer, Bernhard K., Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, La Bianca, Martina, Lange, Leslie A., Lehne, Benjamin, Lehtimäki, Terho, Liu, Jun, Loeffler, Markus, Loos, Ruth J. F., Lyytikäinen, Leo-Pekka, Magi, Reedik, Mahajan, Anubha, Martin, Nicholas G., März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, O’Donnell, Christopher J., Wilson, Otis D., Gaziano, J. Michael, Mishra, Pashupati P., Mohlke, Karen L., Mononen, Nina, Montgomery, Grant W., Mook-Kanamori, Dennis O., Müller-Nurasyid, Martina, Nadkarni, Girish N., Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., Noordam, Raymond, O’Connell, Jeffrey R., Olafsson, Isleifur, Padmanabhan, Sandosh, Penninx, Brenda W. J. H., Perls, Thomas, Peters, Annette, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Polasek, Ozren, Ponte, Belen, Porteous, David J., Poulain, Tanja, Preuss, Michael H., Rabelink, Ton J., Raffield, Laura M., Raitakari, Olli T., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Rizzi, Federica, Robino, Antonietta, Rudan, Igor, Krajcoviechova, Alena, Cifkova, Renata, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A., Saba, Yasaman, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Shaffer, Christian M., Smith, Albert V., Smith, Blair H., Spracklen, Cassandra N., Strauch, Konstantin, Stumvoll, Michael, Sulem, Patrick, Tajuddin, Salman M., Teren, Andrej, Thiery, Joachim, Thio, Chris H. L., Thorsteinsdottir, Unnur, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Uitterlinden, André G., Vaccargiu, Simona, van der Harst, Pim, van Duijn, Cornelia M., Verweij, Niek, Völker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Whitfield, John B., Wild, Sarah H., Wilson, James F., Yang, Qiong, Zhang, Weihua, Zonderman, Alan B., Bochud, Murielle, Wilson, James G., Pendergrass, Sarah A., Ho, Kevin, Parsa, Afshin, Pramstaller, Peter P., Psaty, Bruce M., Böger, Carsten A., Snieder, Harold, Butterworth, Adam S., Okada, Yukinori, Edwards, Todd L., Stefansson, Kari, Susztak, Katalin, Scholz, Markus, Heid, Iris M., Hung, Adriana M., Teumer, Alexander, Pattaro, Cristian, Woodward, Owen M., Vitart, Veronique, Köttgen, Anna·2019·Nature Genetics
DOI 10.1038/s41588-019-0504-x
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Abstract

Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits. A trans-ancestry genome-wide association study of serum urate levels identifies 183 loci influencing this trait. Enrichment analyses, fine-mapping and colocalization with gene expression in 47 tissues implicate the kidney and liver as key target organs and prioritize potential causal genes.

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Authors
Study, G. C. K. D., Tin, A., Study, L. C., Program, V. A. M. V., Marten, J., Halperin Kuhns, V. L., Li, Y., Wuttke, M., Kirsten, H., Sieber, K. B., Qiu, C., Gorski, M., Yu, Z., Giri, A., Sveinbjornsson, G., Li, M., Chu, A. Y., Hoppmann, A., O’Connor, L. J., Prins, B., Nutile, T., Noce, D., Akiyama, M., Cocca, M., Ghasemi, S., van der Most, P. J., Horn, K., Xu, Y., Fuchsberger, C., Sedaghat, S., Afaq, S., Amin, N., Ärnlöv, J., Bakker, S. J. L., Bansal, N., Baptista, D., Bergmann, S., Biggs, M. L., Biino, G., Boerwinkle, E., Bottinger, E. P., Boutin, T. S., Brumat, M., Burkhardt, R., Campana, E., Campbell, A., Campbell, H., Carroll, R. J., Catamo, E., Chambers, J. C., Ciullo, M., Concas, M. P., Coresh, J., Corre, T., Cusi, D., Felicita, S. C., de Borst, M. H., De Grandi, A., de Mutsert, R., de Vries, A. P. J., Delgado, G., Demirkan, A., Devuyst, O., Dittrich, K., Eckardt, K.-U., Ehret, G., Endlich, K., Evans, M. K., Gansevoort, R. T., Gasparini, P., Giedraitis, V., Gieger, C., Girotto, G., Gögele, M., Gordon, S. D., Gudbjartsson, D. F., Gudnason, V., Haller, T., Hamet, P., Harris, T. B., Hayward, C., Hicks, A. A., Hofer, E., Holm, H., Huang, W., Hutri-Kähönen, N., Hwang, S.-J., Ikram, M. A., Lewis, R. M., Ingelsson, E., Jakobsdottir, J., Jonsdottir, I., Jonsson, H., Joshi, P. K., Josyula, N. S., Jung, B., Kähönen, M., Kamatani, Y., Kanai, M., Kerr, S. M., Kiess, W., Kleber, M. E., Koenig, W., Kooner, J. S., Körner, A., Kovacs, P., Krämer, B. K., Kronenberg, F., Kubo, M., Kühnel, B., La Bianca, M., Lange, L. A., Lehne, B., Lehtimäki, T., Liu, J., Loeffler, M., Loos, R. J. F., Lyytikäinen, L.-P., Magi, R., Mahajan, A., Martin, N. G., März, W., Mascalzoni, D., Matsuda, K., Meisinger, C., Meitinger, T., Metspalu, A., Milaneschi, Y., O’Donnell, C. J., Wilson, O. D., Gaziano, J. M., Mishra, P. P., Mohlke, K. L., Mononen, N., Montgomery, G. W., Mook-Kanamori, D. O., Müller-Nurasyid, M., Nadkarni, G. N., Nalls, M. A., Nauck, M., Nikus, K., Ning, B., Nolte, I. M., Noordam, R., O’Connell, J. R., Olafsson, I., Padmanabhan, S., Penninx, B. W. J. H., Perls, T., Peters, A., Pirastu, M., Pirastu, N., Pistis, G., Polasek, O., Ponte, B., Porteous, D. J., Poulain, T., Preuss, M. H., Rabelink, T. J., Raffield, L. M., Raitakari, O. T., Rettig, R., Rheinberger, M., Rice, K. M., Rizzi, F., Robino, A., Rudan, I., Krajcoviechova, A., Cifkova, R., Rueedi, R., Ruggiero, D., Ryan, K. A., Saba, Y., Salvi, E., Schmidt, H., Schmidt, R., Shaffer, C. M., Smith, A. V., Smith, B. H., Spracklen, C. N., Strauch, K., Stumvoll, M., Sulem, P., Tajuddin, S. M., Teren, A., Thiery, J., Thio, C. H. L., Thorsteinsdottir, U., Toniolo, D., Tönjes, A., Tremblay, J., Uitterlinden, A. G., Vaccargiu, S., van der Harst, P., van Duijn, C. M., Verweij, N., Völker, U., Vollenweider, P., Waeber, G., Waldenberger, M., Whitfield, J. B., Wild, S. H., Wilson, J. F., Yang, Q., Zhang, W., Zonderman, A. B., Bochud, M., Wilson, J. G., Pendergrass, S. A., Ho, K., Parsa, A., Pramstaller, P. P., Psaty, B. M., Böger, C. A., Snieder, H., Butterworth, A. S., Okada, Y., Edwards, T. L., Stefansson, K., Susztak, K., Scholz, M., Heid, I. M., Hung, A. M., Teumer, A., Pattaro, C., Woodward, O. M., Vitart, V., & Köttgen, A.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2019-10
Volume
51
Issue
10
Pages
1459-1474
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/s41588-019-0504-x
OpenAlex
W2977833465
Cited by
399
References
21
FWCI
31.79
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. https://app.cochat.ai/papers/10.1038/s41588-019-0504-x
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Study, G. C. K. D., Tin, A., Study, L. C., Program, V. A. M. V., Marten, J., Halperin Kuhns, V. L., Li, Y., Wuttke, M., Kirsten, H., Sieber, K. B., Qiu, C., Gorski, M., Yu, Z., Giri, A., Sveinbjornsson, G., Li, M., Chu, A. Y., Hoppmann, A., O’Connor, L. J., . . . Köttgen, A. (2019). Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nature Genetics. https://doi.org/10.1038/s41588-019-0504-x

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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