Person: Kanai, Masahiro
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Publication Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
(Springer Science and Business Media LLC, 2019-10) Tin, Adrienne; 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; 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; Wilson, Otis D.; Gaziano, John; 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, AnnaElevated serum urate levels cause gout and correlate with cardio-metabolic diseases via poorly understood mechanisms. We performed a trans-ethnic genome-wide association study of serum urate among 457,690 individuals, identifying 183 loci (147 novel) that improve prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardio-metabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci, and co-localization with gene expression in 47 tissues implicated kidney and liver as main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A trans-activated the promoter of the major urate transporter ABCG2 in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional co-regulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardio-metabolic traits.
Publication Direct Characterization of Cis-Regulatory Elements and Functional Dissection of Complex Genetic Associations Using HCR–FlowFISH
(Springer Science and Business Media LLC, 2021-07-29) Reilly, Steven; Gosai, Sager J.; Gutierrez, Alan; Mackay-Smith, Ava; Ulirsch, Jacob; Kanai, Masahiro; Mouri, Kousuke; Berenzy, Daniel; Kales, Susan; Butler, Gina M.; Gladden-Young, Adrianne; Bhuiyan, Redwan M.; Stitzel, Michael L.; Finucane, Hilary K.; Sabeti, Pardis; Tewhey, RyanAbstract: Effective interpretation of genome function and genetic variation requires a shift from epigenetic mapping of cis-regulatory elements (CREs) to characterization of endogenous function. We developed HCR-FlowFISH, a broadly applicable approach to characterize CRISPR-perturbed CREs via accurate quantification of native transcripts, alongside CASA (CRISPR Activity Screen Analysis), a hierarchical Bayesian model to quantify CRE activity. Across >325,000 perturbations, we provide evidence that CREs can regulate multiple genes, skip over the nearest gene, and can display activating and/or silencing effects. At the cholesterol-level associated FADS locus, we combine endogenous screens with reporter assays to exhaustively characterize multiple genome-wide association signals, functionally nominating causal variants and identifying their target genes.