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Pregled bibliografske jedinice broj: 1251702

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

(German Chronic Kidney Disease Study ; Lifelines Cohort Study ; VA Million Veteran Program) Tin, Adrienne; German Chronic Kidney Disease Study; Marten, Jonathan; Halperin Kuhns, Victoria L.; Li, Yong; Wuttke, Matthias; Kirsten, Holger; Sieber, Karsten B.; Qiu, Chengxiang; Gorski, Mathias et al.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels // Nature Genetics, 51 (2019), 10; 1459-1474 doi:10.1038/s41588-019-0504-x (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1251702 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

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

Autori
Tin, Adrienne ; German Chronic Kidney Disease Study ; 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 ; Polašek, 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 ; Lifelines Cohort Study ; V. A. Million Veteran Program

Kolaboracija
German Chronic Kidney Disease Study ; Lifelines Cohort Study ; VA Million Veteran Program

Izvornik
Nature Genetics (1061-4036) 51 (2019), 10; 1459-1474

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
GENOME-WIDE ASSOCIATION ; LD SCORE REGRESSION ; URIC-ACID LEVELS ; R PACKAGE ; KIDNEY-FUNCTION ; FACTOR-BINDING ; LOCI ; GOUT ; RISK ; TRAITS

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

(German Chronic Kidney Disease Study ; Lifelines Cohort Study ; VA Million Veteran Program) Tin, Adrienne; German Chronic Kidney Disease Study; Marten, Jonathan; Halperin Kuhns, Victoria L.; Li, Yong; Wuttke, Matthias; Kirsten, Holger; Sieber, Karsten B.; Qiu, Chengxiang; Gorski, Mathias et al.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels // Nature Genetics, 51 (2019), 10; 1459-1474 doi:10.1038/s41588-019-0504-x (međunarodna recenzija, članak, znanstveni)
(German Chronic Kidney Disease Study ; Lifelines Cohort Study ; VA Million Veteran Program) (German Chronic Kidney Disease Study, Lifelines Cohort Study, VA Million Veteran Program) Tin, A., German Chronic Kidney Disease Study, Marten, J., Halperin Kuhns, V., Li, Y., Wuttke, M., Kirsten, H., Sieber, K., Qiu, C. & Gorski, M. (2019) Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nature Genetics, 51 (10), 1459-1474 doi:10.1038/s41588-019-0504-x.
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L. and Bansal, Nisha and Baptista, Daniela and Bergmann, Sven and Biggs, Mary L. and Biino, Ginevra and Boerwinkle, Eric and Bottinger, Erwin P. and Boutin, Thibaud S. and Brumat, Marco and Burkhardt, Ralph and Campana, Eric and Campbell, Archie and Campbell, Harry and Carroll, Robert J. and Catamo, Eulalia and Chambers, John C. and Ciullo, Marina and Concas, Maria Pina and Coresh, Josef and Corre, Tanguy and Cusi, Daniele and Felicita, Sala Cinzia and de Borst, Martin H. and De Grandi, Alessandro and de Mutsert, Ren\'{e}e and de Vries, Aiko P. J. and Delgado, Graciela and Demirkan, Ay\c{s}e and Devuyst, Olivier and Dittrich, Katalin and Eckardt, Kai-Uwe and Ehret, Georg and Endlich, Karlhans and Evans, Michele K. and Gansevoort, Ron T. and Gasparini, Paolo and Giedraitis, Vilmantas and Gieger, Christian and Girotto, Giorgia and G\"{o}gele, Martin and Gordon, Scott D. and Gudbjartsson, Daniel F. and Gudnason, Vilmundur and Haller, Toomas and Hamet, Pavel and Harris, Tamara B. and Hayward, Caroline and Hicks, Andrew A. and Hofer, Edith and Holm, Hilma and Huang, Wei and Hutri-K\"{a}h\"{o}nen, Nina and Hwang, Shih-Jen and Ikram, M. Arfan and Lewis, Raychel M. and Ingelsson, Erik and Jakobsdottir, Johanna and Jonsdottir, Ingileif and Jonsson, Helgi and Joshi, Peter K. and Josyula, Navya Shilpa and Jung, Bettina and K\"{a}h\"{o}nen, Mika and Kamatani, Yoichiro and Kanai, Masahiro and Kerr, Shona M. and Kiess, Wieland and Kleber, Marcus E. and Koenig, Wolfgang and Kooner, Jaspal S. and K\"{o}rner, Antje and Kovacs, Peter and Kr\"{a}mer, Bernhard K. and Kronenberg, Florian and Kubo, Michiaki and K\"{u}hnel, Brigitte and La Bianca, Martina and Lange, Leslie A. and Lehne, Benjamin and Lehtim\"{a}ki, Terho and Liu, Jun and Loeffler, Markus and Loos, Ruth J. F. and Lyytik\"{a}inen, Leo-Pekka and Magi, Reedik and Mahajan, Anubha and Martin, Nicholas G. and M\"{a}rz, Winfried and Mascalzoni, Deborah and Matsuda, Koichi and Meisinger, Christa and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and O’Donnell, Christopher J. and Wilson, Otis D. and Gaziano, J. Michael and Mishra, Pashupati P. and Mohlke, Karen L. and Mononen, Nina and Montgomery, Grant W. and Mook-Kanamori, Dennis O. and M\"{u}ller-Nurasyid, Martina and Nadkarni, Girish N. and Nalls, Mike A. and Nauck, Matthias and Nikus, Kjell and Ning, Boting and Nolte, Ilja M. and Noordam, Raymond and O’Connell, Jeffrey R. and Olafsson, Isleifur and Padmanabhan, Sandosh and Penninx, Brenda W. J. H. and Perls, Thomas and Peters, Annette and Pirastu, Mario and Pirastu, Nicola and Pistis, Giorgio and Pola\v{s}ek, Ozren and Ponte, Belen and Porteous, David J. and Poulain, Tanja and Preuss, Michael H. and Rabelink, Ton J. and Raffield, Laura M. and Raitakari, Olli T. and Rettig, Rainer and Rheinberger, Myriam and Rice, Kenneth M. and Rizzi, Federica and Robino, Antonietta and Rudan, Igor and Krajcoviechova, Alena and Cifkova, Renata and Rueedi, Rico and Ruggiero, Daniela and Ryan, Kathleen A. and Saba, Yasaman and Salvi, Erika and Schmidt, Helena and Schmidt, Reinhold and Shaffer, Christian M. and Smith, Albert V. and Smith, Blair H. and Spracklen, Cassandra N. and Strauch, Konstantin and Stumvoll, Michael and Sulem, Patrick and Tajuddin, Salman M. and Teren, Andrej and Thiery, Joachim and Thio, Chris H. L. and Thorsteinsdottir, Unnur and Toniolo, Daniela and T\"{o}njes, Anke and Tremblay, Johanne and Uitterlinden, Andr\'{e} G. and Vaccargiu, Simona and van der Harst, Pim and van Duijn, Cornelia M. and Verweij, Niek and V\"{o}lker, Uwe and Vollenweider, Peter and Waeber, Gerard and Waldenberger, Melanie and Whitfield, John B. and Wild, Sarah H. and Wilson, James F. and Yang, Qiong and Zhang, Weihua and Zonderman, Alan B. and Bochud, Murielle and Wilson, James G. and Pendergrass, Sarah A. and Ho, Kevin and Parsa, Afshin and Pramstaller, Peter P. and Psaty, Bruce M. and B\"{o}ger, Carsten A. and Snieder, Harold and Butterworth, Adam S. and Okada, Yukinori and Edwards, Todd L. and Stefansson, Kari and Susztak, Katalin and Scholz, Markus and Heid, Iris M. and Hung, Adriana M. and Teumer, Alexander and Pattaro, Cristian and Woodward, Owen M. and Vitart, Veronique and K\"{o}ttgen, Anna}, year = {2019}, pages = {1459-1474}, DOI = {10.1038/s41588-019-0504-x}, keywords = {GENOME-WIDE ASSOCIATION, LD SCORE REGRESSION, URIC-ACID LEVELS, R PACKAGE, KIDNEY-FUNCTION, FACTOR-BINDING, LOCI, GOUT, RISK, TRAITS}, journal = {Nature Genetics}, doi = {10.1038/s41588-019-0504-x}, volume = {51}, number = {10}, issn = {1061-4036}, title = {Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels}, keyword = {GENOME-WIDE ASSOCIATION, LD SCORE REGRESSION, URIC-ACID LEVELS, R PACKAGE, KIDNEY-FUNCTION, FACTOR-BINDING, LOCI, GOUT, RISK, TRAITS} }
@article{article, author = {Tin, Adrienne and Marten, Jonathan and Halperin Kuhns, Victoria L. and Li, Yong and Wuttke, Matthias and Kirsten, Holger and Sieber, Karsten B. and Qiu, Chengxiang and Gorski, Mathias and Yu, Zhi and Giri, Ayush and Sveinbjornsson, Gardar and Li, Man and Chu, Audrey Y. and Hoppmann, Anselm and O’Connor, Luke J. and Prins, Bram and Nutile, Teresa and Noce, Damia and Akiyama, Masato and Cocca, Massimiliano and Ghasemi, Sahar and van der Most, Peter J. and Horn, Katrin and Xu, Yizhe and Fuchsberger, Christian and Sedaghat, Sanaz and Afaq, Saima and Amin, Najaf and \"{A}rnl\"{o}v, Johan and Bakker, Stephan J. L. and Bansal, Nisha and Baptista, Daniela and Bergmann, Sven and Biggs, Mary L. and Biino, Ginevra and Boerwinkle, Eric and Bottinger, Erwin P. and Boutin, Thibaud S. and Brumat, Marco and Burkhardt, Ralph and Campana, Eric and Campbell, Archie and Campbell, Harry and Carroll, Robert J. and Catamo, Eulalia and Chambers, John C. and Ciullo, Marina and Concas, Maria Pina and Coresh, Josef and Corre, Tanguy and Cusi, Daniele and Felicita, Sala Cinzia and de Borst, Martin H. and De Grandi, Alessandro and de Mutsert, Ren\'{e}e and de Vries, Aiko P. J. and Delgado, Graciela and Demirkan, Ay\c{s}e and Devuyst, Olivier and Dittrich, Katalin and Eckardt, Kai-Uwe and Ehret, Georg and Endlich, Karlhans and Evans, Michele K. and Gansevoort, Ron T. and Gasparini, Paolo and Giedraitis, Vilmantas and Gieger, Christian and Girotto, Giorgia and G\"{o}gele, Martin and Gordon, Scott D. and Gudbjartsson, Daniel F. and Gudnason, Vilmundur and Haller, Toomas and Hamet, Pavel and Harris, Tamara B. and Hayward, Caroline and Hicks, Andrew A. and Hofer, Edith and Holm, Hilma and Huang, Wei and Hutri-K\"{a}h\"{o}nen, Nina and Hwang, Shih-Jen and Ikram, M. Arfan and Lewis, Raychel M. and Ingelsson, Erik and Jakobsdottir, Johanna and Jonsdottir, Ingileif and Jonsson, Helgi and Joshi, Peter K. and Josyula, Navya Shilpa and Jung, Bettina and K\"{a}h\"{o}nen, Mika and Kamatani, Yoichiro and Kanai, Masahiro and Kerr, Shona M. and Kiess, Wieland and Kleber, Marcus E. and Koenig, Wolfgang and Kooner, Jaspal S. and K\"{o}rner, Antje and Kovacs, Peter and Kr\"{a}mer, Bernhard K. and Kronenberg, Florian and Kubo, Michiaki and K\"{u}hnel, Brigitte and La Bianca, Martina and Lange, Leslie A. and Lehne, Benjamin and Lehtim\"{a}ki, Terho and Liu, Jun and Loeffler, Markus and Loos, Ruth J. F. and Lyytik\"{a}inen, Leo-Pekka and Magi, Reedik and Mahajan, Anubha and Martin, Nicholas G. and M\"{a}rz, Winfried and Mascalzoni, Deborah and Matsuda, Koichi and Meisinger, Christa and Meitinger, Thomas and Metspalu, Andres and Milaneschi, Yuri and O’Donnell, Christopher J. and Wilson, Otis D. and Gaziano, J. Michael and Mishra, Pashupati P. and Mohlke, Karen L. and Mononen, Nina and Montgomery, Grant W. and Mook-Kanamori, Dennis O. and M\"{u}ller-Nurasyid, Martina and Nadkarni, Girish N. and Nalls, Mike A. and Nauck, Matthias and Nikus, Kjell and Ning, Boting and Nolte, Ilja M. and Noordam, Raymond and O’Connell, Jeffrey R. and Olafsson, Isleifur and Padmanabhan, Sandosh and Penninx, Brenda W. J. H. and Perls, Thomas and Peters, Annette and Pirastu, Mario and Pirastu, Nicola and Pistis, Giorgio and Pola\v{s}ek, Ozren and Ponte, Belen and Porteous, David J. and Poulain, Tanja and Preuss, Michael H. and Rabelink, Ton J. and Raffield, Laura M. and Raitakari, Olli T. and Rettig, Rainer and Rheinberger, Myriam and Rice, Kenneth M. and Rizzi, Federica and Robino, Antonietta and Rudan, Igor and Krajcoviechova, Alena and Cifkova, Renata and Rueedi, Rico and Ruggiero, Daniela and Ryan, Kathleen A. and Saba, Yasaman and Salvi, Erika and Schmidt, Helena and Schmidt, Reinhold and Shaffer, Christian M. and Smith, Albert V. and Smith, Blair H. and Spracklen, Cassandra N. and Strauch, Konstantin and Stumvoll, Michael and Sulem, Patrick and Tajuddin, Salman M. and Teren, Andrej and Thiery, Joachim and Thio, Chris H. L. and Thorsteinsdottir, Unnur and Toniolo, Daniela and T\"{o}njes, Anke and Tremblay, Johanne and Uitterlinden, Andr\'{e} G. and Vaccargiu, Simona and van der Harst, Pim and van Duijn, Cornelia M. and Verweij, Niek and V\"{o}lker, Uwe and Vollenweider, Peter and Waeber, Gerard and Waldenberger, Melanie and Whitfield, John B. and Wild, Sarah H. and Wilson, James F. and Yang, Qiong and Zhang, Weihua and Zonderman, Alan B. and Bochud, Murielle and Wilson, James G. and Pendergrass, Sarah A. and Ho, Kevin and Parsa, Afshin and Pramstaller, Peter P. and Psaty, Bruce M. and B\"{o}ger, Carsten A. and Snieder, Harold and Butterworth, Adam S. and Okada, Yukinori and Edwards, Todd L. and Stefansson, Kari and Susztak, Katalin and Scholz, Markus and Heid, Iris M. and Hung, Adriana M. and Teumer, Alexander and Pattaro, Cristian and Woodward, Owen M. and Vitart, Veronique and K\"{o}ttgen, Anna}, year = {2019}, pages = {1459-1474}, DOI = {10.1038/s41588-019-0504-x}, keywords = {GENOME-WIDE ASSOCIATION, LD SCORE REGRESSION, URIC-ACID LEVELS, R PACKAGE, KIDNEY-FUNCTION, FACTOR-BINDING, LOCI, GOUT, RISK, TRAITS}, journal = {Nature Genetics}, doi = {10.1038/s41588-019-0504-x}, volume = {51}, number = {10}, issn = {1061-4036}, title = {Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels}, keyword = {GENOME-WIDE ASSOCIATION, LD SCORE REGRESSION, URIC-ACID LEVELS, R PACKAGE, KIDNEY-FUNCTION, FACTOR-BINDING, LOCI, GOUT, RISK, TRAITS} }

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