1,605 results on '"Okada, Yukinori"'
Search Results
2. Genome-wide association study on meningioma risk in Japan: a multicenter prospective study
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Yamada, Shuhei, Umehara, Toru, Sonehara, Kyuto, Kijima, Noriyuki, Kawabata, Shuhei, Takano, Koji, Kidani, Tomoki, Hirayama, Ryuichi, Arita, Hideyuki, Okita, Yoshiko, Kinoshita, Manabu, Kagawa, Naoki, Fujinaka, Toshiyuki, Fujita, Toshiaki, Wakayama, Akatsuki, Matsuda, Koichi, Okada, Yukinori, and Kishima, Haruhiko
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- 2024
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3. Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses
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Ojima, Takafumi, Namba, Shinichi, Suzuki, Ken, Yamamoto, Kenichi, Sonehara, Kyuto, Narita, Akira, Kamatani, Yoichiro, Tamiya, Gen, Yamamoto, Masayuki, Yamauchi, Toshimasa, Kadowaki, Takashi, and Okada, Yukinori
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- 2024
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4. X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.
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Scholz, Markus, Horn, Katrin, Pott, Janne, Wuttke, Matthias, Kühnapfel, Andreas, Nasr, M, Kirsten, Holger, Li, Yong, Hoppmann, Anselm, Gorski, Mathias, Ghasemi, Sahar, Li, Man, Tin, Adrienne, Chai, Jin-Fang, Cocca, Massimiliano, Wang, Judy, Nutile, Teresa, Akiyama, Masato, Åsvold, Bjørn, Bansal, Nisha, Biggs, Mary, Boutin, Thibaud, Brenner, Hermann, Brumpton, Ben, Burkhardt, Ralph, Cai, Jianwen, Campbell, Archie, Campbell, Harry, Chalmers, John, Chasman, Daniel, Chee, Miao, Chen, Xu, Cheng, Ching-Yu, Cifkova, Renata, Daviglus, Martha, Delgado, Graciela, Dittrich, Katalin, Edwards, Todd, Endlich, Karlhans, Michael Gaziano, J, Giri, Ayush, Giulianini, Franco, Gordon, Scott, Gudbjartsson, Daniel, Hallan, Stein, Hamet, Pavel, Hartman, Catharina, Hayward, Caroline, Heid, Iris, Hellwege, Jacklyn, Holleczek, Bernd, Holm, Hilma, Hutri-Kähönen, Nina, Hveem, Kristian, Isermann, Berend, Jonas, Jost, Joshi, Peter, Kamatani, Yoichiro, Kanai, Masahiro, Kastarinen, Mika, Khor, Chiea, Kiess, Wieland, Kleber, Marcus, Körner, Antje, Kovacs, Peter, Krajcoviechova, Alena, Kramer, Holly, Krämer, Bernhard, Kuokkanen, Mikko, Kähönen, Mika, Lange, Leslie, Lash, James, Lehtimäki, Terho, Li, Hengtong, Lin, Bridget, Liu, Jianjun, Loeffler, Markus, Lyytikäinen, Leo-Pekka, Magnusson, Patrik, Martin, Nicholas, Matsuda, Koichi, Milaneschi, Yuri, Mishra, Pashupati, Mononen, Nina, Montgomery, Grant, Mook-Kanamori, Dennis, Mychaleckyj, Josyf, März, Winfried, Nauck, Matthias, Nikus, Kjell, Nolte, Ilja, Noordam, Raymond, Okada, Yukinori, Olafsson, Isleifur, Oldehinkel, Albertine, Penninx, Brenda, Perola, Markus, Pirastu, Nicola, and Polasek, Ozren
- Subjects
Humans ,Male ,Female ,Androgens ,Genome-Wide Association Study ,Kidney ,Chromosomes ,Human ,X ,Response Elements ,Polymorphism ,Single Nucleotide ,Genetic Predisposition to Disease ,Tetraspanins - Abstract
X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.
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- 2024
5. Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores
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Naito, Tatsuhiko, Inoue, Kosuke, Namba, Shinichi, Sonehara, Kyuto, Suzuki, Ken, Matsuda, Koichi, Kondo, Naoki, Toda, Tatsushi, Yamauchi, Toshimasa, Kadowaki, Takashi, and Okada, Yukinori
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- 2024
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6. Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults
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Pozarickij, Alfred, Gan, Wei, Lin, Kuang, Clarke, Robert, Fairhurst-Hunter, Zammy, Koido, Masaru, Kanai, Masahiro, Okada, Yukinori, Kamatani, Yoichiro, Bennett, Derrick, Du, Huaidong, Chen, Yiping, Yang, Ling, Avery, Daniel, Guo, Yu, Yu, Min, Yu, Canqing, Schmidt Valle, Dan, Lv, Jun, Chen, Junshi, Peto, Richard, Collins, Rory, Li, Liming, Chen, Zhengming, Millwood, Iona Y., and Walters, Robin G.
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- 2024
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7. Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss
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Sonehara, Kyuto, Yano, Yoshitaka, Naito, Tatsuhiko, Goto, Shinobu, Yoshihara, Hiroyuki, Otani, Takahiro, Ozawa, Fumiko, Kitaori, Tamao, Matsuda, Koichi, Nishiyama, Takashi, Okada, Yukinori, and Sugiura-Ogasawara, Mayumi
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- 2024
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8. A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
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Jermy, Bradley, Läll, Kristi, Wolford, Brooke N., Wang, Ying, Zguro, Kristina, Cheng, Yipeng, Kanai, Masahiro, Kanoni, Stavroula, Yang, Zhiyu, Hartonen, Tuomo, Monti, Remo, Wanner, Julian, Youssef, Omar, Lippert, Christoph, van Heel, David, Okada, Yukinori, McCartney, Daniel L., Hayward, Caroline, Marioni, Riccardo E., Furini, Simone, Renieri, Alessandra, Martin, Alicia R., Neale, Benjamin M., Hveem, Kristian, Mägi, Reedik, Palotie, Aarno, Heyne, Henrike, Mars, Nina, Ganna, Andrea, and Ripatti, Samuli
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- 2024
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9. Association between PET–CT accumulation in the hypothalamic/pituitary regions and neuron-specific enolase/primary tumor in limited-stage small cell lung cancer: a case-controlled retrospective study
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Okada, Yukinori, Zama, Tatsuhiko, Itonaga, Tomohiro, Mikami, Ryuji, Okubo, Mitsuru, Sugahara, Shinji, Nakai, Motoki, Abe, Koichiro, Yoshimura, Mana, and Saito, Kazuhiro
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- 2024
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10. Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications
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Sterenborg, Rosalie B. T. M., Steinbrenner, Inga, Li, Yong, Bujnis, Melissa N., Naito, Tatsuhiko, Marouli, Eirini, Galesloot, Tessel E., Babajide, Oladapo, Andreasen, Laura, Astrup, Arne, Åsvold, Bjørn Olav, Bandinelli, Stefania, Beekman, Marian, Beilby, John P., Bork-Jensen, Jette, Boutin, Thibaud, Brody, Jennifer A., Brown, Suzanne J., Brumpton, Ben, Campbell, Purdey J., Cappola, Anne R., Ceresini, Graziano, Chaker, Layal, Chasman, Daniel I., Concas, Maria Pina, Coutinho de Almeida, Rodrigo, Cross, Simone M., Cucca, Francesco, Deary, Ian J., Kjaergaard, Alisa Devedzic, Echouffo Tcheugui, Justin B., Ellervik, Christina, Eriksson, Johan G., Ferrucci, Luigi, Freudenberg, Jan, Fuchsberger, Christian, Gieger, Christian, Giulianini, Franco, Gögele, Martin, Graham, Sarah E., Grarup, Niels, Gunjača, Ivana, Hansen, Torben, Harding, Barbara N., Harris, Sarah E., Haunsø, Stig, Hayward, Caroline, Hui, Jennie, Ittermann, Till, Jukema, J. Wouter, Kajantie, Eero, Kanters, Jørgen K., Kårhus, Line L., Kiemeney, Lambertus A. L. M., Kloppenburg, Margreet, Kühnel, Brigitte, Lahti, Jari, Langenberg, Claudia, Lapauw, Bruno, Leese, Graham, Li, Shuo, Liewald, David C. M., Linneberg, Allan, Lominchar, Jesus V. T., Luan, Jian’an, Martin, Nicholas G., Matana, Antonela, Meima, Marcel E., Meitinger, Thomas, Meulenbelt, Ingrid, Mitchell, Braxton D., Møllehave, Line T., Mora, Samia, Naitza, Silvia, Nauck, Matthias, Netea-Maier, Romana T., Noordam, Raymond, Nursyifa, Casia, Okada, Yukinori, Onano, Stefano, Papadopoulou, Areti, Palmer, Colin N. A., Pattaro, Cristian, Pedersen, Oluf, Peters, Annette, Pietzner, Maik, Polašek, Ozren, Pramstaller, Peter P., Psaty, Bruce M., Punda, Ante, Ray, Debashree, Redmond, Paul, Richards, J. Brent, Ridker, Paul M., Russ, Tom C., Ryan, Kathleen A., Olesen, Morten Salling, Schultheiss, Ulla T., Selvin, Elizabeth, Siddiqui, Moneeza K., Sidore, Carlo, Slagboom, P. Eline, Sørensen, Thorkild I. A., Soto-Pedre, Enrique, Spector, Tim D., Spedicati, Beatrice, Srinivasan, Sundararajan, Starr, John M., Stott, David J., Tanaka, Toshiko, Torlak, Vesela, Trompet, Stella, Tuhkanen, Johanna, Uitterlinden, André G., van den Akker, Erik B., van den Eynde, Tibbert, van der Klauw, Melanie M., van Heemst, Diana, Verroken, Charlotte, Visser, W. Edward, Vojinovic, Dina, Völzke, Henry, Waldenberger, Melanie, Walsh, John P., Wareham, Nicholas J., Weiss, Stefan, Willer, Cristen J., Wilson, Scott G., Wolffenbuttel, Bruce H. R., Wouters, Hanneke J. C. M., Wright, Margaret J., Yang, Qiong, Zemunik, Tatijana, Zhou, Wei, Zhu, Gu, Zöllner, Sebastian, Smit, Johannes W. A., Peeters, Robin P., Köttgen, Anna, Teumer, Alexander, and Medici, Marco
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- 2024
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11. GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
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Ishikawa, Yuki, Tanaka, Nao, Asano, Yoshihide, Kodera, Masanari, Shirai, Yuichiro, Akahoshi, Mitsuteru, Hasegawa, Minoru, Matsushita, Takashi, Saito, Kazuyoshi, Motegi, Sei-ichiro, Yoshifuji, Hajime, Yoshizaki, Ayumi, Kohmoto, Tomohiro, Takagi, Kae, Oka, Akira, Kanda, Miho, Tanaka, Yoshihito, Ito, Yumi, Nakano, Kazuhisa, Kasamatsu, Hiroshi, Utsunomiya, Akira, Sekiguchi, Akiko, Niiro, Hiroaki, Jinnin, Masatoshi, Makino, Katsunari, Makino, Takamitsu, Ihn, Hironobu, Yamamoto, Motohisa, Suzuki, Chisako, Takahashi, Hiroki, Nishida, Emi, Morita, Akimichi, Yamamoto, Toshiyuki, Fujimoto, Manabu, Kondo, Yuya, Goto, Daisuke, Sumida, Takayuki, Ayuzawa, Naho, Yanagida, Hidetoshi, Horita, Tetsuya, Atsumi, Tatsuya, Endo, Hirahito, Shima, Yoshihito, Kumanogoh, Atsushi, Hirata, Jun, Otomo, Nao, Suetsugu, Hiroyuki, Koike, Yoshinao, Tomizuka, Kohei, Yoshino, Soichiro, Liu, Xiaoxi, Ito, Shuji, Hikino, Keiko, Suzuki, Akari, Momozawa, Yukihide, Ikegawa, Shiro, Tanaka, Yoshiya, Ishikawa, Osamu, Takehara, Kazuhiko, Torii, Takeshi, Sato, Shinichi, Okada, Yukinori, Mimori, Tsuneyo, Matsuda, Fumihiko, Matsuda, Koichi, Amariuta, Tiffany, Imoto, Issei, Matsuo, Keitaro, Kuwana, Masataka, Kawaguchi, Yasushi, Ohmura, Koichiro, and Terao, Chikashi
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- 2024
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12. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
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Suzuki, Ken, Hatzikotoulas, Konstantinos, Southam, Lorraine, Taylor, Henry J., Yin, Xianyong, Lorenz, Kim M., Mandla, Ravi, Huerta-Chagoya, Alicia, Melloni, Giorgio E. M., Kanoni, Stavroula, Rayner, Nigel W., Bocher, Ozvan, Arruda, Ana Luiza, Sonehara, Kyuto, Namba, Shinichi, Lee, Simon S. K., Preuss, Michael H., Petty, Lauren E., Schroeder, Philip, Vanderwerff, Brett, Kals, Mart, Bragg, Fiona, Lin, Kuang, Guo, Xiuqing, Zhang, Weihua, Yao, Jie, Kim, Young Jin, Graff, Mariaelisa, Takeuchi, Fumihiko, Nano, Jana, Lamri, Amel, Nakatochi, Masahiro, Moon, Sanghoon, Scott, Robert A., Cook, James P., Lee, Jung-Jin, Pan, Ian, Taliun, Daniel, Parra, Esteban J., Chai, Jin-Fang, Bielak, Lawrence F., Tabara, Yasuharu, Hai, Yang, Thorleifsson, Gudmar, Grarup, Niels, Sofer, Tamar, Wuttke, Matthias, Sarnowski, Chloé, Gieger, Christian, Nousome, Darryl, Trompet, Stella, Kwak, Soo-Heon, Long, Jirong, Sun, Meng, Tong, Lin, Chen, Wei-Min, Nongmaithem, Suraj S., Noordam, Raymond, Lim, Victor J. Y., Tam, Claudia H. T., Joo, Yoonjung Yoonie, Chen, Chien-Hsiun, Raffield, Laura M., Prins, Bram Peter, Nicolas, Aude, Yanek, Lisa R., Chen, Guanjie, Brody, Jennifer A., Kabagambe, Edmond, An, Ping, Xiang, Anny H., Choi, Hyeok Sun, Cade, Brian E., Tan, Jingyi, Broadaway, K. Alaine, Williamson, Alice, Kamali, Zoha, Cui, Jinrui, Thangam, Manonanthini, Adair, Linda S., Adeyemo, Adebowale, Aguilar-Salinas, Carlos A., Ahluwalia, Tarunveer S., Anand, Sonia S., Bertoni, Alain, Bork-Jensen, Jette, Brandslund, Ivan, Buchanan, Thomas A., Burant, Charles F., Butterworth, Adam S., Canouil, Mickaël, Chan, Juliana C. N., Chang, Li-Ching, Chee, Miao-Li, Chen, Ji, Chen, Shyh-Huei, Chen, Yuan-Tsong, Chen, Zhengming, Chuang, Lee-Ming, Cushman, Mary, Danesh, John, Das, Swapan K., de Silva, H. Janaka, Dedoussis, George, Dimitrov, Latchezar, Doumatey, Ayo P., Du, Shufa, Duan, Qing, Eckardt, Kai-Uwe, Emery, Leslie S., Evans, Daniel S., Evans, Michele K., Fischer, Krista, Floyd, James S., Ford, Ian, Franco, Oscar H., Frayling, Timothy M., Freedman, Barry I., Genter, Pauline, Gerstein, Hertzel C., Giedraitis, Vilmantas, González-Villalpando, Clicerio, González-Villalpando, Maria Elena, Gordon-Larsen, Penny, Gross, Myron, Guare, Lindsay A., Hackinger, Sophie, Hakaste, Liisa, Han, Sohee, Hattersley, Andrew T., Herder, Christian, Horikoshi, Momoko, Howard, Annie-Green, Hsueh, Willa, Huang, Mengna, Huang, Wei, Hung, Yi-Jen, Hwang, Mi Yeong, Hwu, Chii-Min, Ichihara, Sahoko, Ikram, Mohammad Arfan, Ingelsson, Martin, Islam, Md. Tariqul, Isono, Masato, Jang, Hye-Mi, Jasmine, Farzana, Jiang, Guozhi, Jonas, Jost B., Jørgensen, Torben, Kamanu, Frederick K., Kandeel, Fouad R., Kasturiratne, Anuradhani, Katsuya, Tomohiro, Kaur, Varinderpal, Kawaguchi, Takahisa, Keaton, Jacob M., Kho, Abel N., Khor, Chiea-Chuen, Kibriya, Muhammad G., Kim, Duk-Hwan, Kronenberg, Florian, Kuusisto, Johanna, Läll, Kristi, Lange, Leslie A., Lee, Kyung Min, Lee, Myung-Shik, Lee, Nanette R., Leong, Aaron, Li, Liming, Li, Yun, Li-Gao, Ruifang, Ligthart, Symen, Lindgren, Cecilia M., Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Locke, Adam E., Louie, Tin, Luan, Jian’an, Luk, Andrea O., Luo, Xi, Lv, Jun, Lynch, Julie A., Lyssenko, Valeriya, Maeda, Shiro, Mamakou, Vasiliki, Mansuri, Sohail Rafik, Matsuda, Koichi, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mo, Huan, Morris, Andrew D., Moura, Filipe A., Nadler, Jerry L., Nalls, Michael A., Nayak, Uma, Ntalla, Ioanna, Okada, Yukinori, Orozco, Lorena, Patel, Sanjay R., Patil, Snehal, Pei, Pei, Pereira, Mark A., Peters, Annette, Pirie, Fraser J., Polikowsky, Hannah G., Porneala, Bianca, Prasad, Gauri, Rasmussen-Torvik, Laura J., Reiner, Alexander P., Roden, Michael, Rohde, Rebecca, Roll, Katheryn, Sabanayagam, Charumathi, Sandow, Kevin, Sankareswaran, Alagu, Sattar, Naveed, Schönherr, Sebastian, Shahriar, Mohammad, Shen, Botong, Shi, Jinxiu, Shin, Dong Mun, Shojima, Nobuhiro, Smith, Jennifer A., So, Wing Yee, Stančáková, Alena, Steinthorsdottir, Valgerdur, Stilp, Adrienne M., Strauch, Konstantin, Taylor, Kent D., Thorand, Barbara, Thorsteinsdottir, Unnur, Tomlinson, Brian, Tran, Tam C., Tsai, Fuu-Jen, Tuomilehto, Jaakko, Tusie-Luna, Teresa, Udler, Miriam S., Valladares-Salgado, Adan, van Dam, Rob M., van Klinken, Jan B., Varma, Rohit, Wacher-Rodarte, Niels, Wheeler, Eleanor, Wickremasinghe, Ananda R., van Dijk, Ko Willems, Witte, Daniel R., Yajnik, Chittaranjan S., Yamamoto, Ken, Yamamoto, Kenichi, Yoon, Kyungheon, Yu, Canqing, Yuan, Jian-Min, Yusuf, Salim, Zawistowski, Matthew, Zhang, Liang, Zheng, Wei, Raffel, Leslie J., Igase, Michiya, Ipp, Eli, Redline, Susan, Cho, Yoon Shin, Lind, Lars, Province, Michael A., Fornage, Myriam, Hanis, Craig L., Ingelsson, Erik, Zonderman, Alan B., Psaty, Bruce M., Wang, Ya-Xing, Rotimi, Charles N., Becker, Diane M., Matsuda, Fumihiko, Liu, Yongmei, Yokota, Mitsuhiro, Kardia, Sharon L. R., Peyser, Patricia A., Pankow, James S., Engert, James C., Bonnefond, Amélie, Froguel, Philippe, Wilson, James G., Sheu, Wayne H. H., Wu, Jer-Yuarn, Hayes, M. Geoffrey, Ma, Ronald C. W., Wong, Tien-Yin, Mook-Kanamori, Dennis O., Tuomi, Tiinamaija, Chandak, Giriraj R., Collins, Francis S., Bharadwaj, Dwaipayan, Paré, Guillaume, Sale, Michèle M., Ahsan, Habibul, Motala, Ayesha A., Shu, Xiao-Ou, Park, Kyong-Soo, Jukema, J. Wouter, Cruz, Miguel, Chen, Yii-Der Ida, Rich, Stephen S., McKean-Cowdin, Roberta, Grallert, Harald, Cheng, Ching-Yu, Ghanbari, Mohsen, Tai, E-Shyong, Dupuis, Josee, Kato, Norihiro, Laakso, Markku, Köttgen, Anna, Koh, Woon-Puay, Bowden, Donald W., Palmer, Colin N. A., Kooner, Jaspal S., Kooperberg, Charles, Liu, Simin, North, Kari E., Saleheen, Danish, Hansen, Torben, Pedersen, Oluf, Wareham, Nicholas J., Lee, Juyoung, Kim, Bong-Jo, Millwood, Iona Y., Walters, Robin G., Stefansson, Kari, Ahlqvist, Emma, Goodarzi, Mark O., Mohlke, Karen L., Langenberg, Claudia, Haiman, Christopher A., Loos, Ruth J. F., Florez, Jose C., Rader, Daniel J., Ritchie, Marylyn D., Zöllner, Sebastian, Mägi, Reedik, Marston, Nicholas A., Ruff, Christian T., van Heel, David A., Finer, Sarah, Denny, Joshua C., Yamauchi, Toshimasa, Kadowaki, Takashi, Chambers, John C., Ng, Maggie C. Y., Sim, Xueling, Below, Jennifer E., Tsao, Philip S., Chang, Kyong-Mi, McCarthy, Mark I., Meigs, James B., Mahajan, Anubha, Spracklen, Cassandra N., Mercader, Josep M., Boehnke, Michael, Rotter, Jerome I., Vujkovic, Marijana, Voight, Benjamin F., Morris, Andrew P., and Zeggini, Eleftheria
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- 2024
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13. Prognostic significance of hypertension history and blood pressure on admission in Japanese patients with coronavirus disease 2019: integrative analysis from the Japan COVID-19 Task Force
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Sakurai, Kaori, Chubachi, Shotaro, Asakura, Takanori, Namkoong, Ho, Tanaka, Hiromu, Azekawa, Shuhei, Shimada, Takashi, Otake, Shiro, Nakagawara, Kensuke, Fukushima, Takahiro, Lee, Ho, Watase, Mayuko, Kusumoto, Tatsuya, Masaki, Katsunori, Kamata, Hirofumi, Ishii, Makoto, Hasegawa, Naoki, Okada, Yukinori, Koike, Ryuji, Kitagawa, Yuko, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2024
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14. Gastrointestinal symptoms in COVID-19 and disease severity: a Japanese registry-based retrospective cohort study
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Matsubara, Yuta, Kiyohara, Hiroki, Mikami, Yohei, Nanki, Kosaku, Namkoong, Ho, Chubachi, Shotaro, Tanaka, Hiromu, Azekawa, Shuhei, Sugimoto, Shinya, Yoshimatsu, Yusuke, Sujino, Tomohisa, Takabayashi, Kaoru, Hosoe, Naoki, Sato, Toshiro, Ishii, Makoto, Hasegawa, Naoki, Okada, Yukinori, Koike, Ryuji, Kitagawa, Yuko, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Fukunaga, Koichi, and Kanai, Takanori
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- 2024
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15. Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference
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Meng, Xiangrui, Navoly, Georgina, Giannakopoulou, Olga, Levey, Daniel F., Koller, Dora, Pathak, Gita A., Koen, Nastassja, Lin, Kuang, Adams, Mark J., Rentería, Miguel E., Feng, Yanzhe, Gaziano, J. Michael, Stein, Dan J., Zar, Heather J., Campbell, Megan L., van Heel, David A., Trivedi, Bhavi, Finer, Sarah, McQuillin, Andrew, Bass, Nick, Chundru, V. Kartik, Martin, Hilary C., Huang, Qin Qin, Valkovskaya, Maria, Chu, Chia-Yi, Kanjira, Susan, Kuo, Po-Hsiu, Chen, Hsi-Chung, Tsai, Shih-Jen, Liu, Yu-Li, Kendler, Kenneth S., Peterson, Roseann E., Cai, Na, Fang, Yu, Sen, Srijan, Scott, Laura J., Burmeister, Margit, Loos, Ruth J. F., Preuss, Michael H., Actkins, Ky’Era V., Davis, Lea K., Uddin, Monica, Wani, Agaz H., Wildman, Derek E., Aiello, Allison E., Ursano, Robert J., Kessler, Ronald C., Kanai, Masahiro, Okada, Yukinori, Sakaue, Saori, Rabinowitz, Jill A., Maher, Brion S., Uhl, George, Eaton, William, Cruz-Fuentes, Carlos S., Martinez-Levy, Gabriela A., Campos, Adrian I., Millwood, Iona Y., Chen, Zhengming, Li, Liming, Wassertheil-Smoller, Sylvia, Jiang, Yunxuan, Tian, Chao, Martin, Nicholas G., Mitchell, Brittany L., Byrne, Enda M., Awasthi, Swapnil, Coleman, Jonathan R. I., Ripke, Stephan, Sofer, Tamar, Walters, Robin G., McIntosh, Andrew M., Polimanti, Renato, Dunn, Erin C., Stein, Murray B., Gelernter, Joel, Lewis, Cathryn M., and Kuchenbaecker, Karoline
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- 2024
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16. Association between ABO blood group/genotype and COVID-19 in a Japanese population
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Kusumoto, Tatsuya, Chubachi, Shotaro, Namkoong, Ho, Tanaka, Hiromu, Lee, Ho, Azekawa, Shuhei, Otake, Shiro, Nakagawara, Kensuke, Fukushima, Takahiro, Morita, Atsuho, Watase, Mayuko, Sakurai, Kaori, Asakura, Takanori, Masaki, Katsunori, Kamata, Hirofumi, Ishii, Makoto, Hasegawa, Naoki, Harada, Norihiro, Ueda, Tetsuya, Ueda, Soichiro, Ishiguro, Takashi, Arimura, Ken, Saito, Fukuki, Yoshiyama, Takashi, Nakano, Yasushi, Mutoh, Yoshikazu, Suzuki, Yusuke, Edahiro, Ryuya, Sano, Hirohito, Sato, Yasunori, Okada, Yukinori, Koike, Ryuji, Kitagawa, Yuko, Tokunaga, Katsushi, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2023
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17. Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues
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Charoensawan, Varodom, Hon, Chung-Chau, Majumder, Partha P., Matangkasombut, Ponpan, Park, Woong-Yang, Prabhakar, Shyam, Shin, Jay W., Carninci, Piero, Chambers, John C., Loh, Marie, Pithukpakorn, Manop, Suktitipat, Bhoom, Yamamoto, Kazuhiko, Rajagopalan, Deepa, Rayan, Nirmala Arul, Sankaran, Shvetha, Chantaraamporn, Juthamard, Chatterjee, Ankita, Ghosh, Supratim, Han, Kyung Yeon, Jevapatarakul, Damita, Nguantad, Sarintip, Sarkar, Sumanta, Thungsatianpun, Narita, Abe, Mai, Furukawa, Seiko, Inoue, Gyo, Myouzen, Keiko, Oh, Jin-Mi, Suzuki, Akari, Ando, Yoshinari, Kojima, Miki, Kouno, Tsukasa, Lim, Jinyeong, Maitra, Arindam, Tan, Le Min, Venkatesh, Prasanna Nori, Choi, Murim, Park, Jong-Eun, Buyamin, Eliora Violain, Kock, Kian Hong, Xuan Lin, Quy Xiao, Moody, Jonathan, Sonthalia, Radhika, Ishigaki, Kazuyoshi, Nakano, Masahiro, Okada, Yukinori, Tomofuji, Yoshihiko, Ho Namkoong, Edahiro, Ryuya, Takano, Tomomi, Nishihara, Hiroshi, Shirai, Yuya, Sonehara, Kyuto, Tanaka, Hiromu, Azekawa, Shuhei, Mikami, Yohei, Lee, Ho, Hasegawa, Takanori, Okudela, Koji, Okuzaki, Daisuke, Motooka, Daisuke, Kanai, Masahiro, Naito, Tatsuhiko, Yamamoto, Kenichi, Wang, Qingbo S., Saiki, Ryunosuke, Ishihara, Rino, Matsubara, Yuta, Hamamoto, Junko, Hayashi, Hiroyuki, Yoshimura, Yukihiro, Tachikawa, Natsuo, Yanagita, Emmy, Hyugaji, Takayoshi, Shimizu, Eigo, Katayama, Kotoe, Kato, Yasuhiro, Morita, Takayoshi, Takahashi, Kazuhisa, Harada, Norihiro, Naito, Toshio, Hiki, Makoto, Matsushita, Yasushi, Takagi, Haruhi, Aoki, Ryousuke, Nakamura, Ai, Harada, Sonoko, Sasano, Hitoshi, Kabata, Hiroki, Masaki, Katsunori, Kamata, Hirofumi, Ikemura, Shinnosuke, Chubachi, Shotaro, Okamori, Satoshi, Terai, Hideki, Morita, Atsuho, Asakura, Takanori, Sasaki, Junichi, Morisaki, Hiroshi, Uwamino, Yoshifumi, Nanki, Kosaku, Uchida, Sho, Uno, Shunsuke, Nishimura, Tomoyasu, Ishiguro, Takashi, Isono, Taisuke, Shibata, Shun, Matsui, Yuma, Hosoda, Chiaki, Takano, Kenji, Nishida, Takashi, Kobayashi, Yoichi, Takaku, Yotaro, Takayanagi, Noboru, Ueda, Soichiro, Tada, Ai, Miyawaki, Masayoshi, Yamamoto, Masaomi, Yoshida, Eriko, Hayashi, Reina, Nagasaka, Tomoki, Arai, Sawako, Kaneko, Yutaro, Sasaki, Kana, Tagaya, Etsuko, Kawana, Masatoshi, Arimura, Ken, Takahashi, Kunihiko, Anzai, Tatsuhiko, Ito, Satoshi, Endo, Akifumi, Uchimura, Yuji, Miyazaki, Yasunari, Honda, Takayuki, Tateishi, Tomoya, Tohda, Shuji, Ichimura, Naoya, Sonobe, Kazunari, Sassa, Chihiro Tani, Nakajima, Jun, Nakano, Yasushi, Nakajima, Yukiko, Anan, Ryusuke, Arai, Ryosuke, Kurihara, Yuko, Harada, Yuko, Nishio, Kazumi, Ueda, Tetsuya, Azuma, Masanori, Saito, Ryuichi, Sado, Toshikatsu, Miyazaki, Yoshimune, Sato, Ryuichi, Haruta, Yuki, Nagasaki, Tadao, Yasui, Yoshinori, Hasegawa, Yoshinori, Mutoh, Yoshikazu, Kimura, Tomoki, Sato, Tomonori, Takei, Reoto, Hagimoto, Satoshi, Noguchi, Yoichiro, Yamano, Yasuhiko, Sasano, Hajime, Ota, Sho, Nakamori, Yasushi, Yoshiya, Kazuhisa, Saito, Fukuki, Yoshihara, Tomoyuki, Wada, Daiki, Iwamura, Hiromu, Kanayama, Syuji, Maruyama, Shuhei, Yoshiyama, Takashi, Ohta, Ken, Kokuto, Hiroyuki, Ogata, Hideo, Tanaka, Yoshiaki, Arakawa, Kenichi, Shimoda, Masafumi, Osawa, Takeshi, Tateno, Hiroki, Hase, Isano, Yoshida, Shuichi, Suzuki, Shoji, Kawada, Miki, Horinouchi, Hirohisa, Saito, Fumitake, Mitamura, Keiko, Hagihara, Masao, Ochi, Junichi, Uchida, Tomoyuki, Baba, Rie, Arai, Daisuke, Ogura, Takayuki, Takahashi, Hidenori, Hagiwara, Shigehiro, Nagao, Genta, Konishi, Shunichiro, Nakachi, Ichiro, Murakami, Koji, Yamada, Mitsuhiro, Sugiura, Hisatoshi, Sano, Hirohito, Matsumoto, Shuichiro, Kimura, Nozomu, Ono, Yoshinao, Baba, Hiroaki, Suzuki, Yusuke, Nakayama, Sohei, Masuzawa, Keita, Namba, Shinichi, Suzuki, Ken, Naito, Yoko, Liu, Yu-Chen, Takuwa, Ayako, Sugihara, Fuminori, Wing, James B., Sakakibara, Shuhei, Hizawa, Nobuyuki, Shiroyama, Takayuki, Miyawaki, Satoru, Kawamura, Yusuke, Nakayama, Akiyoshi, Matsuo, Hirotaka, Yuichi, Maeda, Nii, Takuro, Noda, Yoshimi, Niitsu, Takayuki, Adachi, Yuichi, Enomoto, Takatoshi, Amiya, Saori, Hara, Reina, Yamaguchi, Yuta, Murakami, Teruaki, Kuge, Tomoki, Matsumoto, Kinnosuke, Yamamoto, Yuji, Yamamoto, Makoto, Yoneda, Midori, Kishikawa, Toshihiro, Yamada, Shuhei, Kawabata, Shuhei, Kijima, Noriyuki, Takagaki, Masatoshi, Sasa, Noah, Ueno, Yuya, Suzuki, Motoyuki, Takemoto, Norihiko, Eguchi, Hirotaka, Fukusumi, Takahito, Imai, Takao, Fukushima, Munehisa, Kishima, Haruhiko, Inohara, Hidenori, Tomono, Kazunori, Kato, Kazuto, Takahashi, Meiko, Matsuda, Fumihiko, Hirata, Haruhiko, Takeda, Yoshito, Koh, Hidefumi, Manabe, Tadashi, Funatsu, Yohei, Ito, Fumimaro, Fukui, Takahiro, Shinozuka, Keisuke, Kohashi, Sumiko, Miyazaki, Masatoshi, Shoko, Tomohisa, Kojima, Mitsuaki, Adachi, Tomohiro, Ishikawa, Motonao, Takahashi, Kenichiro, Inoue, Takashi, Hirano, Toshiyuki, Kobayashi, Keigo, Takaoka, Hatsuyo, Watanabe, Kazuyoshi, Miyazawa, Naoki, Kimura, Yasuhiro, Sado, Reiko, Sugimoto, Hideyasu, Kamiya, Akane, Kuwahara, Naota, Fujiwara, Akiko, Matsunaga, Tomohiro, Sato, Yoko, Okada, Takenori, Hirai, Yoshihiro, Kawashima, Hidetoshi, Narita, Atsuya, Niwa, Kazuki, Sekikawa, Yoshiyuki, Nishi, Koichi, Nishitsuji, Masaru, Tani, Mayuko, Suzuki, Junya, Nakatsumi, Hiroki, Ogura, Takashi, Kitamura, Hideya, Hagiwara, Eri, Murohashi, Kota, Okabayashi, Hiroko, Mochimaru, Takao, Nukaga, Shigenari, Satomi, Ryosuke, Oyamada, Yoshitaka, Mori, Nobuaki, Baba, Tomoya, Fukui, Yasutaka, Odate, Mitsuru, Mashimo, Shuko, Makino, Yasushi, Yagi, Kazuma, Hashiguchi, Mizuha, Kagyo, Junko, Shiomi, Tetsuya, Fuke, Satoshi, Saito, Hiroshi, Tsuchida, Tomoya, Fujitani, Shigeki, Takita, Mumon, Morikawa, Daiki, Yoshida, Toru, Izumo, Takehiro, Inomata, Minoru, Kuse, Naoyuki, Awano, Nobuyasu, Tone, Mari, Ito, Akihiro, Nakamura, Yoshihiko, Hoshino, Kota, Maruyama, Junichi, Ishikura, Hiroyasu, Takata, Tohru, Odani, Toshio, Amishima, Masaru, Hattori, Takeshi, Shichinohe, Yasuo, Kagaya, Takashi, Kita, Toshiyuki, Ohta, Kazuhide, Sakagami, Satoru, Koshida, Kiyoshi, Hayashi, Kentaro, Shimizu, Tetsuo, Kozu, Yutaka, Hiranuma, Hisato, Gon, Yasuhiro, Izumi, Namiki, Nagata, Kaoru, Ueda, Ken, Taki, Reiko, Hanada, Satoko, Kawamura, Kodai, Ichikado, Kazuya, Nishiyama, Kenta, Muranaka, Hiroyuki, Nakamura, Kazunori, Hashimoto, Naozumi, Wakahara, Keiko, Koji, Sakamoto, Omote, Norihito, Ando, Akira, Kodama, Nobuhiro, Kaneyama, Yasunari, Shunsuke, Maeda, Kuraki, Takashige, Matsumoto, Takemasa, Yokote, Koutaro, Nakada, Taka-Aki, Abe, Ryuzo, Oshima, Taku, Shimada, Tadanaga, Harada, Masahiro, Takahashi, Takeshi, Ono, Hiroshi, Sakurai, Toshihiro, Shibusawa, Takayuki, Kimizuka, Yoshifumi, Kawana, Akihiko, Sano, Tomoya, Watanabe, Chie, Suematsu, Ryohei, Sageshima, Hisako, Yoshifuji, Ayumi, Ito, Kazuto, Takahashi, Saeko, Ishioka, Kota, Nakamura, Morio, Masuda, Makoto, Wakabayashi, Aya, Watanabe, Hiroki, Ueda, Suguru, Nishikawa, Masanori, Chihara, Yusuke, Takeuchi, Mayumi, Onoi, Keisuke, Shinozuka, Jun, Sueyoshi, Atsushi, Nagasaki, Yoji, Okamoto, Masaki, Ishihara, Sayoko, Shimo, Masatoshi, Tokunaga, Yoshihisa, Kusaka, Yu, Ohba, Takehiko, Isogai, Susumu, Ogawa, Aki, Inoue, Takuya, Fukuyama, Satoru, Eriguchi, Yoshihiro, Yonekawa, Akiko, Kan-o, Keiko, Matsumoto, Koichiro, Kanaoka, Kensuke, Ihara, Shoichi, Komuta, Kiyoshi, Inoue, Yoshiaki, Chiba, Shigeru, Yamagata, Kunihiro, Hiramatsu, Yuji, Kai, Hirayasu, Asano, Koichiro, Oguma, Tsuyoshi, Ito, Yoko, Hashimoto, Satoru, Yamasaki, Masaki, Kasamatsu, Yu, Komase, Yuko, Hida, Naoya, Tsuburai, Takahiro, Oyama, Baku, Takada, Minoru, Kanda, Hidenori, Kitagawa, Yuichiro, Fukuta, Tetsuya, Miyake, Takahito, Yoshida, Shozo, Ogura, Shinji, Abe, Shinji, Kono, Yuta, Togashi, Yuki, Takoi, Hiroyuki, Kikuchi, Ryota, Ogawa, Shinichi, Ogata, Tomouki, Ishihara, Shoichiro, Kanehiro, Arihiko, Ozaki, Shinji, Fuchimoto, Yasuko, Wada, Sae, Fujimoto, Nobukazu, Nishiyama, Kei, Terashima, Mariko, Beppu, Satoru, Yoshida, Kosuke, Narumoto, Osamu, Nagai, Hideaki, Ooshima, Nobuharu, Motegi, Mitsuru, Umeda, Akira, Miyagawa, Kazuya, Shimada, Hisato, Endo, Mayu, Ohira, Yoshiyuki, Watanabe, Masafumi, Inoue, Sumito, Igarashi, Akira, Sato, Masamichi, Sagara, Hironori, Tanaka, Akihiko, Ohta, Shin, Kimura, Tomoyuki, Shibata, Yoko, Tanino, Yoshinori, Nikaido, Takefumi, Minemura, Hiroyuki, Sato, Yuki, Yamada, Yuichiro, Hashino, Takuya, Shinoki, Masato, Iwagoe, Hajime, Takahashi, Hiroshi, Fujii, Kazuhiko, Kishi, Hiroto, Kanai, Masayuki, Imamura, Tomonori, Yamashita, Tatsuya, Yatomi, Masakiyo, Maeno, Toshitaka, Hayashi, Shinichi, Takahashi, Mai, Kuramochi, Mizuki, Kamimaki, Isamu, Tominaga, Yoshiteru, Ishii, Tomoo, Utsugi, Mitsuyoshi, Ono, Akihiro, Tanaka, Toru, Kashiwada, Takeru, Fujita, Kazue, Saito, Yoshinobu, Seike, Masahiro, Watanabe, Hiroko, Matsuse, Hiroto, Kodaka, Norio, Nakano, Chihiro, Oshio, Takeshi, Hirouchi, Takatomo, Makino, Shohei, Egi, Moritoki, Omae, Yosuke, Nannya, Yasuhito, Ueno, Takafumi, Katayama, Kazuhiko, Ai, Masumi, Fukui, Yoshinori, Kumanogoh, Atsushi, Sato, Toshiro, Hasegawa, Naoki, Tokunaga, Katsushi, Ishii, Makoto, Koike, Ryuji, Kitagawa, Yuko, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, Fukunaga, Koichi, Takeshima, Yusuke, Tanaka, Kentaro, Koichi Matsuda, Yamanashi, Yuji, Furukawa, Yoichi, Morisaki, Takayuki, Murakami, Yoshinori, Kamatani, Yoichiro, Muto, Kaori, Nagai, Akiko, Nakamura, Yusuke, Obara, Wataru, Yamaji, Ken, Asai, Satoshi, Takahashi, Yasuo, Higashiue, Shinichi, Kobayashi, Shuzo, Yamaguchi, Hiroki, Nagata, Yasunobu, Wakita, Satoshi, Nito, Chikako, Iwasaki, Yu-ki, Murayama, Shigeo, Yoshimori, Kozo, Miki, Yoshio, Obata, Daisuke, Higashiyama, Masahiko, Masumoto, Akihide, Koga, Yoshinobu, Koretsune, Yukihiro, Yata, Tomohiro, Ogawa, Kotaro, Namkoong, Ho, Okuno, Tatsusada, Liu, Boxiang, Matsuda, Koichi, and Mochizuki, Hideki
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- 2024
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18. Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores
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Campos, Adrian I., Namba, Shinichi, Lin, Shu-Chin, Nam, Kisung, Sidorenko, Julia, Wang, Huanwei, Kamatani, Yoichiro, Wang, Ling-Hua, Lee, Seunggeun, Lin, Yen-Feng, Feng, Yen-Chen Anne, Okada, Yukinori, Visscher, Peter M., and Yengo, Loic
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- 2023
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19. Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease
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Sakaue, Saori, Gurajala, Saisriram, Curtis, Michelle, Luo, Yang, Choi, Wanson, Ishigaki, Kazuyoshi, Kang, Joyce B., Rumker, Laurie, Deutsch, Aaron J., Schönherr, Sebastian, Forer, Lukas, LeFaive, Jonathon, Fuchsberger, Christian, Han, Buhm, Lenz, Tobias L., de Bakker, Paul I. W., Okada, Yukinori, Smith, Albert V., and Raychaudhuri, Soumya
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- 2023
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20. CT-derived vertebral bone mineral density is a useful biomarker to predict COVID-19 outcome
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Azekawa, Shuhei, Maetani, Tomoki, Chubachi, Shotaro, Asakura, Takanori, Tanabe, Naoya, Shiraishi, Yusuke, Namkoong, Ho, Tanaka, Hiromu, Shimada, Takashi, Fukushima, Takahiro, Otake, Shiro, Nakagawara, Kensuke, Watase, Mayuko, Terai, Hideki, Sasaki, Mamoru, Ueda, Soichiro, Kato, Yukari, Harada, Norihiro, Suzuki, Shoji, Yoshida, Shuichi, Tateno, Hiroki, Yamada, Yoshitake, Jinzaki, Masahiro, Hirai, Toyohiro, Okada, Yukinori, Koike, Ryuji, Ishii, Makoto, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2024
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21. Characteristics of patients with COVID-19 who have deteriorating chest X-ray findings within 48 h: a retrospective cohort study
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Kusumoto, Tatsuya, Chubachi, Shotaro, Namkoong, Ho, Tanaka, Hiromu, Lee, Ho, Otake, Shiro, Nakagawara, Kensuke, Fukushima, Takahiro, Morita, Atsuho, Watase, Mayuko, Asakura, Takanori, Masaki, Katsunori, Kamata, Hirofumi, Ishii, Makoto, Hasegawa, Naoki, Harada, Norihiro, Ueda, Tetsuya, Ueda, Soichiro, Ishiguro, Takashi, Arimura, Ken, Saito, Fukuki, Yoshiyama, Takashi, Nakano, Yasushi, Mutoh, Yoshikazu, Suzuki, Yusuke, Edahiro, Ryuya, Murakami, Koji, Sato, Yasunori, Okada, Yukinori, Koike, Ryuji, Kitagawa, Yuko, Tokunaga, Katsushi, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2023
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22. Single-cell multi-omics analysis identifies two distinct phenotypes of newly-onset microscopic polyangiitis
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Nishide, Masayuki, Nishimura, Kei, Matsushita, Hiroaki, Edahiro, Ryuya, Inukai, Sachi, Shimagami, Hiroshi, Kawada, Shoji, Kato, Yasuhiro, Kawasaki, Takahiro, Tsujimoto, Kohei, Kamon, Hokuto, Omiya, Ryusuke, Okada, Yukinori, Hattori, Kunihiro, Narazaki, Masashi, and Kumanogoh, Atsushi
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- 2023
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23. Clinical utilization of artificial intelligence-based COVID-19 pneumonia quantification using chest computed tomography – a multicenter retrospective cohort study in Japan
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Tanaka, Hiromu, Maetani, Tomoki, Chubachi, Shotaro, Tanabe, Naoya, Shiraishi, Yusuke, Asakura, Takanori, Namkoong, Ho, Shimada, Takashi, Azekawa, Shuhei, Otake, Shiro, Nakagawara, Kensuke, Fukushima, Takahiro, Watase, Mayuko, Terai, Hideki, Sasaki, Mamoru, Ueda, Soichiro, Kato, Yukari, Harada, Norihiro, Suzuki, Shoji, Yoshida, Shuichi, Tateno, Hiroki, Yamada, Yoshitake, Jinzaki, Masahiro, Hirai, Toyohiro, Okada, Yukinori, Koike, Ryuji, Ishii, Makoto, Hasegawa, Naoki, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2023
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24. Multifaceted analysis of cross-tissue transcriptomes reveals phenotype–endotype associations in atopic dermatitis
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Sekita, Aiko, Kawasaki, Hiroshi, Fukushima-Nomura, Ayano, Yashiro, Kiyoshi, Tanese, Keiji, Toshima, Susumu, Ashizaki, Koichi, Miyai, Tomohiro, Yazaki, Junshi, Kobayashi, Atsuo, Namba, Shinichi, Naito, Tatsuhiko, Wang, Qingbo S., Kawakami, Eiryo, Seita, Jun, Ohara, Osamu, Sakurada, Kazuhiro, Okada, Yukinori, Amagai, Masayuki, and Koseki, Haruhiko
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- 2023
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25. Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis
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Sato, Go, Shirai, Yuya, Namba, Shinichi, Edahiro, Ryuya, Sonehara, Kyuto, Hata, Tsuyoshi, Uemura, Mamoru, Matsuda, Koichi, Doki, Yuichiro, Eguchi, Hidetoshi, and Okada, Yukinori
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- 2023
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26. Identification of serum metabolome signatures associated with retinal and renal complications of type 2 diabetes
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Tomofuji, Yoshihiko, Suzuki, Ken, Kishikawa, Toshihiro, Shojima, Nobuhiro, Hosoe, Jun, Inagaki, Kyoko, Matsubayashi, Sunao, Ishihara, Hisamitsu, Watada, Hirotaka, Ishigaki, Yasushi, Inohara, Hidenori, Murakami, Yoshinori, Matsuda, Koichi, Okada, Yukinori, Yamauchi, Toshimasa, and Kadowaki, Takashi
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- 2023
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27. Impact of respiratory bacterial infections on mortality in Japanese patients with COVID-19: a retrospective cohort study
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Nakagawara, Kensuke, Kamata, Hirofumi, Chubachi, Shotaro, Namkoong, Ho, Tanaka, Hiromu, Lee, Ho, Otake, Shiro, Fukushima, Takahiro, Kusumoto, Tatsuya, Morita, Atsuho, Azekawa, Shuhei, Watase, Mayuko, Asakura, Takanori, Masaki, Katsunori, Ishii, Makoto, Endo, Akifumi, Koike, Ryuji, Ishikura, Hiroyasu, Takata, Tohru, Matsushita, Yasushi, Harada, Norihiro, Kokutou, Hiroyuki, Yoshiyama, Takashi, Kataoka, Kensuke, Mutoh, Yoshikazu, Miyawaki, Masayoshi, Ueda, Soichiro, Ono, Hiroshi, Ono, Takuya, Shoko, Tomohisa, Muranaka, Hiroyuki, Kawamura, Kodai, Mori, Nobuaki, Mochimaru, Takao, Fukui, Mototaka, Chihara, Yusuke, Nagasaki, Yoji, Okamoto, Masaki, Amishima, Masaru, Odani, Toshio, Tani, Mayuko, Nishi, Koichi, Shirai, Yuya, Edahiro, Ryuya, Ando, Akira, Hashimoto, Naozumi, Ogura, Shinji, Kitagawa, Yuichiro, Kita, Toshiyuki, Kagaya, Takashi, Kimura, Yasuhiro, Miyazawa, Naoki, Tsuchida, Tomoya, Fujitani, Shigeki, Murakami, Koji, Sano, Hirohito, Sato, Yuki, Tanino, Yoshinori, Otsuki, Ryo, Mashimo, Shuko, Kuramochi, Mizuki, Hosoda, Yasuo, Hasegawa, Yoshinori, Ueda, Tetsuya, Takaku, Yotaro, Ishiguro, Takashi, Fujiwara, Akiko, Kuwahara, Naota, Kitamura, Hideya, Hagiwara, Eri, Nakamori, Yasushi, Saito, Fukuki, Kono, Yuta, Abe, Shinji, Ishii, Tomoo, Ohba, Takehiko, Kusaka, Yu, Watanabe, Hiroko, Masuda, Makoto, Watanabe, Hiroki, Kimizuka, Yoshifumi, Kawana, Akihiko, Kasamatsu, Yu, Hashimoto, Satoru, Okada, Yukinori, Takano, Tomomi, Katayama, Kazuhiko, Ai, Masumi, Kumanogoh, Atsushi, Sato, Toshiro, Tokunaga, Katsushi, Imoto, Seiya, Kitagawa, Yuko, Kimura, Akinori, Miyano, Satoru, Hasegawa, Naoki, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2023
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28. Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals
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Akiyama, Masato, Sakaue, Saori, Takahashi, Atsushi, Ishigaki, Kazuyoshi, Hirata, Makoto, Matsuda, Koichi, Momozawa, Yukihide, Okada, Yukinori, Ninomiya, Toshiharu, Terao, Chikashi, Murakami, Yoshinori, Kubo, Michiaki, and Kamatani, Yoichiro
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- 2023
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29. Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study
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Dofuku, Shogo, Sonehara, Kyuto, Miyawaki, Satoru, Sakaue, Saori, Imai, Hideaki, Shimizu, Masahiro, Hongo, Hiroki, Shinya, Yuki, Ohara, Kenta, Teranishi, Yu, Okano, Atsushi, Ono, Hideaki, Nakatomi, Hirofumi, Teraoka, Akira, Yamamoto, Kenichi, Maeda, Yuichi, Nii, Takuro, Kishikawa, Toshihiro, Suzuki, Ken, Hirata, Jun, Takahashi, Meiko, Matsuda, Koichi, Kumanogoh, Atsushi, Matsuda, Fumihiko, Okada, Yukinori, and Saito, Nobuhito
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- 2023
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30. Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity
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Edahiro, Ryuya, Shirai, Yuya, Takeshima, Yusuke, Sakakibara, Shuhei, Yamaguchi, Yuta, Murakami, Teruaki, Morita, Takayoshi, Kato, Yasuhiro, Liu, Yu-Chen, Motooka, Daisuke, Naito, Yoko, Takuwa, Ayako, Sugihara, Fuminori, Tanaka, Kentaro, Wing, James B., Sonehara, Kyuto, Tomofuji, Yoshihiko, Namkoong, Ho, Tanaka, Hiromu, Lee, Ho, Fukunaga, Koichi, Hirata, Haruhiko, Takeda, Yoshito, Okuzaki, Daisuke, Kumanogoh, Atsushi, and Okada, Yukinori
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- 2023
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31. Integrated assessment of computed tomography density in pectoralis and erector spinae muscles as a prognostic biomarker for coronavirus disease 2019
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Nakagawara, Kensuke, Shiraishi, Yusuke, Chubachi, Shotaro, Tanabe, Naoya, Maetani, Tomoki, Asakura, Takanori, Namkoong, Ho, Tanaka, Hiromu, Shimada, Takashi, Azekawa, Shuhei, Otake, Shiro, Fukushima, Takahiro, Watase, Mayuko, Terai, Hideki, Sasaki, Mamoru, Ueda, Soichiro, Kato, Yukari, Harada, Norihiro, Suzuki, Shoji, Yoshida, Shuichi, Tateno, Hiroki, Yamada, Yoshitake, Jinzaki, Masahiro, Hirai, Toyohiro, Okada, Yukinori, Koike, Ryuji, Ishii, Makoto, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2024
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32. Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation
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Lo Faro, Valeria, Bhattacharya, Arjun, Zhou, Wei, Zhou, Dan, Wang, Ying, Läll, Kristi, Kanai, Masahiro, Lopera-Maya, Esteban, Straub, Peter, Pawar, Priyanka, Tao, Ran, Zhong, Xue, Namba, Shinichi, Sanna, Serena, Nolte, Ilja M., Okada, Yukinori, Ingold, Nathan, MacGregor, Stuart, Snieder, Harold, Surakka, Ida, Shortt, Jonathan, Gignoux, Chris, Rafaels, Nicholas, Crooks, Kristy, Verma, Anurag, Verma, Shefali S., Guare, Lindsay, Rader, Daniel J., Willer, Cristen, Martin, Alicia R., Brantley, Milam A., Jr., Gamazon, Eric R., Jansonius, Nomdo M., Joos, Karen, Cox, Nancy J., and Hirbo, Jibril
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- 2024
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33. How can genetics analysis allow for early detection of rheumatoid arthritis
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Yamamoto, Kazuhiko, Ishigaki, Kazuyoshi, and Okada, Yukinori
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- 2024
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34. Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis
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Singh, Bhupinder, Maiti, Guru P, Zhou, Xujie, Fazel-Najafabadi, Mehdi, Bae, Sang-Cheol, Sun, Celi, Terao, Chikashi, Okada, Yukinori, Heng Chua, Kek, Kochi, Yuta, Guthridge, Joel M, Zhang, Hong, Weirauch, Matthew, James, Judith A, Harley, John B, Varshney, Gaurav K, Looger, Loren L, and Nath, Swapan K
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Biomedical and Clinical Sciences ,Clinical Sciences ,Immunology ,Biotechnology ,Genetics ,Human Genome ,Autoimmune Disease ,Lupus ,1.1 Normal biological development and functioning ,Aetiology ,2.1 Biological and endogenous factors ,Underpinning research ,Generic health relevance ,Inflammatory and immune system ,Alleles ,Apoptosis ,Cell Proliferation ,Computational Biology ,Cyclin-Dependent Kinase Inhibitor p27 ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Lupus Erythematosus ,Systemic ,Polymorphism ,Single Nucleotide ,Promoter Regions ,Genetic ,Public Health and Health Services ,Arthritis & Rheumatology ,Clinical sciences - Abstract
ObjectiveIn a recent genome-wide association study, a significant genetic association between rs34330 of CDKN1B and risk of systemic lupus erythematosus (SLE) in Han Chinese was identified. This study was undertaken to validate the reported association and elucidate the biochemical mechanisms underlying the effect of the variant.MethodsWe performed an allelic association analysis in patients with SLE, followed by a meta-analysis assessing genome-wide association data across 11 independent cohorts (n = 28,872). In silico bioinformatics analysis and experimental validation in SLE-relevant cell lines were applied to determine the functional consequences of rs34330.ResultsWe replicated a genetic association between SLE and rs34330 (meta-analysis P = 5.29 × 10-22 , odds ratio 0.84 [95% confidence interval 0.81-0.87]). Follow-up bioinformatics and expression quantitative trait locus analysis suggested that rs34330 is located in active chromatin and potentially regulates several target genes. Using luciferase and chromatin immunoprecipitation-real-time quantitative polymerase chain reaction, we demonstrated substantial allele-specific promoter and enhancer activity, and allele-specific binding of 3 histone marks (H3K27ac, H3K4me3, and H3K4me1), RNA polymerase II (Pol II), CCCTC-binding factor, and a critical immune transcription factor (interferon regulatory factor 1 [IRF-1]). Chromosome conformation capture revealed long-range chromatin interactions between rs34330 and the promoters of neighboring genes APOLD1 and DDX47, and effects on CDKN1B and the other target genes were directly validated by clustered regularly interspaced short palindromic repeat (CRISPR)-based genome editing. Finally, CRISPR/dead CRISPR-associated protein 9-based epigenetic activation/silencing confirmed these results. Gene-edited cell lines also showed higher levels of proliferation and apoptosis.ConclusionCollectively, these findings suggest a mechanism whereby the rs34330 risk allele (C) influences the presence of histone marks, RNA Pol II, and IRF-1 transcription factor to regulate expression of several target genes linked to proliferation and apoptosis. This process could potentially underlie the association of rs34330 with SLE.
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- 2021
35. A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response
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Luo, Yang, Kanai, Masahiro, Choi, Wanson, Li, Xinyi, Sakaue, Saori, Yamamoto, Kenichi, Ogawa, Kotaro, Gutierrez-Arcelus, Maria, Gregersen, Peter K, Stuart, Philip E, Elder, James T, Forer, Lukas, Schönherr, Sebastian, Fuchsberger, Christian, Smith, Albert V, Fellay, Jacques, Carrington, Mary, Haas, David W, Guo, Xiuqing, Palmer, Nicholette D, Chen, Yii-Der Ida, Rotter, Jerome I, Taylor, Kent D, Rich, Stephen S, Correa, Adolfo, Wilson, James G, Kathiresan, Sekar, Cho, Michael H, Metspalu, Andres, Esko, Tonu, Okada, Yukinori, Han, Buhm, McLaren, Paul J, and Raychaudhuri, Soumya
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Biological Sciences ,Genetics ,Biotechnology ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Alleles ,Amino Acids ,Gene Frequency ,Genetic Variation ,Genetics ,Population ,HIV Infections ,HIV-1 ,HLA Antigens ,Haplotypes ,Host-Pathogen Interactions ,Humans ,Linkage Disequilibrium ,Physical Chromosome Mapping ,Reference Standards ,Selection ,Genetic ,Viral Load ,NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Fine-mapping to plausible causal variation may be more effective in multi-ancestry cohorts, particularly in the MHC, which has population-specific structure. To enable such studies, we constructed a large (n = 21,546) HLA reference panel spanning five global populations based on whole-genome sequences. Despite population-specific long-range haplotypes, we demonstrated accurate imputation at G-group resolution (94.2%, 93.7%, 97.8% and 93.7% in admixed African (AA), East Asian (EAS), European (EUR) and Latino (LAT) populations). Applying HLA imputation to genome-wide association study data for HIV-1 viral load in three populations (EUR, AA and LAT), we obviated effects of previously reported associations from population-specific HIV studies and discovered a novel association at position 156 in HLA-B. We pinpointed the MHC association to three amino acid positions (97, 67 and 156) marking three consecutive pockets (C, B and D) within the HLA-B peptide-binding groove, explaining 12.9% of trait variance.
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- 2021
36. Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals
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Matsuda, Koichi, Yamanashi, Yuji, Furukawa, Yoichi, Morisaki, Takayuki, Okada, Yukinori, Murakami, Yoshinori, Muto, Kaori, Nagai, Akiko, Nakamura, Yusuke, Obara, Wataru, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Higashiue, Shinichi, Kobayashi, Shuzo, Yamaguchi, Hiroki, Nagata, Yasunobu, Wakita, Satoshi, Nito, Chikako, Iwasaki, Yu-Ki, Murayama, Shigeo, Yoshimori, Kozo, Miki, Yoshio, Obata, Daisuke, Higashiyama, Masahiko, Masumoto, Akihide, Koga, Yoshinobu, Koretsune, Yukihiro, Aihara, Makoto, Sakata, Rei, Kashiwagi, Kenji, Mabuchi, Fumihiko, Kawase, Kazuhide, Iwata, Takeshi, Tsujikawa, Motokazu, Nishiguchi, Koji M., Akiyama, Masato, Tamiya, Gen, Fujiwara, Kohta, Shiga, Yukihiro, Yokoyama, Yu, Hashimoto, Kazuki, Sato, Masataka, Sato, Kota, Narita, Akira, Hashimoto, Sawako, Ueda, Emi, Furuta, Yoshihiko, Hata, Jun, Miyake, Masahiro, Ikeda, Hanako O., Suda, Kenji, Numa, Shogo, Mori, Yuki, Morino, Kazuya, Murakami, Yusuke, Shimokawa, Sakurako, Nakamura, Shun, Yawata, Nobuyo, Fujisawa, Kimihiko, Yamana, Satoshi, Mori, Kenichiro, Ikeda, Yasuhiro, Miyata, Kazunori, Mori, Keisuke, Ogino, Ken, Koyanagi, Yoshito, Kamatani, Yoichiro, Ninomiya, Toshiharu, Sonoda, Koh-Hei, and Nakazawa, Toru
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- 2024
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37. Epicardial adipose tissue measured from analysis of adipose tissue area using chest CT imaging is the best potential predictor of COVID-19 severity
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Fukushima, Takahiro, Maetani, Tomoki, Chubachi, Shotaro, Tanabe, Naoya, Asakura, Takanori, Namkoong, Ho, Tanaka, Hiromu, Shimada, Takashi, Azekawa, Shuhei, Otake, Shiro, Nakagawara, Kensuke, Watase, Mayuko, Shiraishi, Yusuke, Terai, Hideki, Sasaki, Mamoru, Ueda, Soichiro, Kato, Yukari, Harada, Norihiro, Suzuki, Shoji, Yoshida, Shuichi, Tateno, Hiroki, Yamada, Yoshitake, Jinzaki, Masahiro, Hirai, Toyohiro, Okada, Yukinori, Koike, Ryuji, Ishii, Makoto, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
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- 2024
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38. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
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Duperron, Marie-Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David-Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching-Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Rundek, Tatjana, Sargurupremraj, Muralidharan, Schilling, Sabrina, Setoh, Kazuya, Soukarieh, Omar, Tabara, Yasuharu, Teumer, Alexander, Thalamuthu, Anbupalam, Trollor, Julian N., Valdés Hernández, Maria C., Vernooij, Meike W., Völker, Uwe, Wittfeld, Katharina, Wong, Tien Yin, Wright, Margaret J., Zhang, Junyi, Zhao, Wanting, Zhu, Yi-Cheng, Schmidt, Helena, Sachdev, Perminder S., Wen, Wei, Yoshida, Kazumichi, Joutel, Anne, Satizabal, Claudia L., Sacco, Ralph L., Bourque, Guillaume, Lathrop, Mark, Paus, Tomas, Fernandez-Cadenas, Israel, Yang, Qiong, Mazoyer, Bernard, Boutinaud, Philippe, Okada, Yukinori, Grabe, Hans J., Mather, Karen A., Schmidt, Reinhold, Joliot, Marc, Ikram, M. Arfan, Matsuda, Fumihiko, Tzourio, Christophe, Wardlaw, Joanna M., Seshadri, Sudha, Adams, Hieab H. H., and Debette, Stéphanie
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- 2023
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39. Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population
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Tomofuji, Yoshihiko, Kishikawa, Toshihiro, Sonehara, Kyuto, Maeda, Yuichi, Ogawa, Kotaro, Kawabata, Shuhei, Oguro-Igashira, Eri, Okuno, Tatsusada, Nii, Takuro, Kinoshita, Makoto, Takagaki, Masatoshi, Yamamoto, Kenichi, Arase, Noriko, Yagita-Sakamaki, Mayu, Hosokawa, Akiko, Motooka, Daisuke, Matsumoto, Yuki, Matsuoka, Hidetoshi, Yoshimura, Maiko, Ohshima, Shiro, Nakamura, Shota, Fujimoto, Manabu, Inohara, Hidenori, Kishima, Haruhiko, Mochizuki, Hideki, Takeda, Kiyoshi, Kumanogoh, Atsushi, and Okada, Yukinori
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- 2023
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40. Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology
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Wang, Ying, Kanai, Masahiro, Tan, Taotao, Kamariza, Mireille, Tsuo, Kristin, Yuan, Kai, Zhou, Wei, Okada, Yukinori, Huang, Hailiang, Turley, Patrick, Atkinson, Elizabeth G., and Martin, Alicia R.
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- 2023
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41. Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium
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Lin, Bridget M, Grinde, Kelsey E, Brody, Jennifer A, Breeze, Charles E, Raffield, Laura M, Mychaleckyj, Josyf C, Thornton, Timothy A, Perry, James A, Baier, Leslie J, de las Fuentes, Lisa, Guo, Xiuqing, Heavner, Benjamin D, Hanson, Robert L, Hung, Yi-Jen, Qian, Huijun, Hsiung, Chao A, Hwang, Shih-Jen, Irvin, Margaret R, Jain, Deepti, Kelly, Tanika N, Kobes, Sayuko, Lange, Leslie, Lash, James P, Li, Yun, Liu, Xiaoming, Mi, Xuenan, Musani, Solomon K, Papanicolaou, George J, Parsa, Afshin, Reiner, Alex P, Salimi, Shabnam, Sheu, Wayne H-H, Shuldiner, Alan R, Taylor, Kent D, Smith, Albert V, Smith, Jennifer A, Tin, Adrienne, Vaidya, Dhananjay, Wallace, Robert B, Yamamoto, Kenichi, Sakaue, Saori, Matsuda, Koichi, Kamatani, Yoichiro, Momozawa, Yukihide, Yanek, Lisa R, Young, Betsi A, Zhao, Wei, Okada, Yukinori, Abecasis, Gonzalo, Psaty, Bruce M, Arnett, Donna K, Boerwinkle, Eric, Cai, Jianwen, Chen, Ida Yii-Der, Correa, Adolfo, Cupples, L Adrienne, He, Jiang, Kardia, Sharon LR, Kooperberg, Charles, Mathias, Rasika A, Mitchell, Braxton D, Nickerson, Deborah A, Turner, Steve T, Ramachandran, Vasan S, Rotter, Jerome I, Levy, Daniel, Kramer, Holly J, Köttgen, Anna, Consortium, NHLBI Trans-Omics for Precision Medicine, Group, TOPMed Kidney Working, Rich, Stephen S, Lin, Dan-Yu, Browning, Sharon R, and Franceschini, Nora
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Epidemiology ,Health Sciences ,Biotechnology ,Human Genome ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Good Health and Well Being ,Alleles ,Gene Frequency ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genomics ,Glomerular Filtration Rate ,Humans ,Male ,National Heart ,Lung ,and Blood Institute (U.S.) ,Polymorphism ,Single Nucleotide ,Precision Medicine ,Public Health Surveillance ,Quantitative Trait ,Heritable ,United States ,Whole Genome Sequencing ,Whole genome sequencing ,Kidney traits ,Rare variants ,Ancestry-specific variants ,Clinical Sciences ,Public Health and Health Services ,Clinical sciences - Abstract
BackgroundGenetic factors that influence kidney traits have been understudied for low frequency and ancestry-specific variants.MethodsWe combined whole genome sequencing (WGS) data from 23,732 participants from 10 NHLBI Trans-Omics for Precision Medicine (TOPMed) Program multi-ethnic studies to identify novel loci for estimated glomerular filtration rate (eGFR). Participants included European, African, East Asian, and Hispanic ancestries. We applied linear mixed models using a genetic relationship matrix estimated from the WGS data and adjusted for age, sex, study, and ethnicity.FindingsWhen testing single variants, we identified three novel loci driven by low frequency variants more commonly observed in non-European ancestry (PRKAA2, rs180996919, minor allele frequency [MAF] 0.04%, P = 6.1 × 10-11; METTL8, rs116951054, MAF 0.09%, P = 4.5 × 10-9; and MATK, rs539182790, MAF 0.05%, P = 3.4 × 10-9). We also replicated two known loci for common variants (rs2461702, MAF=0.49, P = 1.2 × 10-9, nearest gene GATM, and rs71147340, MAF=0.34, P = 3.3 × 10-9, CDK12). Testing aggregated variants within a gene identified the MAF gene. A statistical approach based on local ancestry helped to identify replication samples for ancestry-specific variants.InterpretationThis study highlights challenges in studying variants influencing kidney traits that are low frequency in populations and more common in non-European ancestry.
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- 2021
42. Genetic footprints of assortative mating in the Japanese population
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Yamamoto, Kenichi, Sonehara, Kyuto, Namba, Shinichi, Konuma, Takahiro, Masuko, Hironori, Miyawaki, Satoru, Kamatani, Yoichiro, Hizawa, Nobuyuki, Ozono, Keiichi, Yengo, Loic, and Okada, Yukinori
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- 2023
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43. Genetic diversity fuels gene discovery for tobacco and alcohol use
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Saunders, Gretchen R. B., Wang, Xingyan, Chen, Fang, Jang, Seon-Kyeong, Liu, Mengzhen, Wang, Chen, Gao, Shuang, Jiang, Yu, Khunsriraksakul, Chachrit, Otto, Jacqueline M., Addison, Clifton, Akiyama, Masato, Albert, Christine M., Aliev, Fazil, Alonso, Alvaro, Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Barr, R. Graham, Bartz, Traci M., Becker, Diane M., Bielak, Lawrence F., Benjamin, Emelia J., Bis, Joshua C., Bjornsdottir, Gyda, Blangero, John, Bleecker, Eugene R., Boardman, Jason D., Boerwinkle, Eric, Boomsma, Dorret I., Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chasman, Daniel I., Chavan, Sameer, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Iona, Cho, Michael H., Choquet, Hélène, Cole, John W., Cornelis, Marilyn C., Cucca, Francesco, Curran, Joanne E., de Andrade, Mariza, Dick, Danielle M., Docherty, Anna R., Duggirala, Ravindranath, Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Faul, Jessica D., Silva, Lilian Fernandes, Fiorillo, Edoardo, Fornage, Myriam, Freedman, Barry I., Gabrielsen, Maiken E., Garrett, Melanie E., Gharib, Sina A., Gieger, Christian, Gillespie, Nathan, Glahn, David C., Gordon, Scott D., Gu, Charles C., Gu, Dongfeng, Gudbjartsson, Daniel F., Guo, Xiuqing, Haessler, Jeffrey, Hall, Michael E., Haller, Toomas, Harris, Kathleen Mullan, He, Jiang, Herd, Pamela, Hewitt, John K., Hickie, Ian, Hidalgo, Bertha, Hokanson, John E., Hopfer, Christian, Hottenga, JoukeJan, Hou, Lifang, Huang, Hongyan, Hung, Yi-Jen, Hunter, David J., Hveem, Kristian, Hwang, Shih-Jen, Hwu, Chii-Min, Iacono, William, Irvin, Marguerite R., Jee, Yon Ho, Johnson, Eric O., Joo, Yoonjung Y., Jorgenson, Eric, Justice, Anne E., Kamatani, Yoichiro, Kaplan, Robert C., Kaprio, Jaakko, Kardia, Sharon L. R., Keller, Matthew C., Kelly, Tanika N., Kooperberg, Charles, Korhonen, Tellervo, Kraft, Peter, Krauter, Kenneth, Kuusisto, Johanna, Laakso, Markku, Lasky-Su, Jessica, Lee, Wen-Jane, Lee, James J., Levy, Daniel, Li, Liming, Li, Kevin, Li, Yuqing, Lin, Kuang, Lind, Penelope A., Liu, Chunyu, Lloyd-Jones, Donald M., Lutz, Sharon M., Ma, Jiantao, Mägi, Reedik, Manichaikul, Ani, Martin, Nicholas G., Mathur, Ravi, Matoba, Nana, McArdle, Patrick F., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Meyers, Deborah A., Millwood, Iona Y., Mitchell, Braxton D., Mohlke, Karen L., Moll, Matthew, Montasser, May E., Morrison, Alanna C., Mulas, Antonella, Nielsen, Jonas B., North, Kari E., Oelsner, Elizabeth C., Okada, Yukinori, Orrù, Valeria, Palmer, Nicholette D., Palviainen, Teemu, Pandit, Anita, Park, S. Lani, Peters, Ulrike, Peters, Annette, Peyser, Patricia A., Polderman, Tinca J. C., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alex P., Rice, John P., Rich, Stephen S., Richmond, Nicole E., Roan, Carol, Rotter, Jerome I., Rueschman, Michael N., Runarsdottir, Valgerdur, Saccone, Nancy L., Schwartz, David A., Shadyab, Aladdin H., Shi, Jingchunzi, Shringarpure, Suyash S., Sicinski, Kamil, Skogholt, Anne Heidi, Smith, Jennifer A., Smith, Nicholas L., Sotoodehnia, Nona, Stallings, Michael C., Stefansson, Hreinn, Stefansson, Kari, Stitzel, Jerry A., Sun, Xiao, Syed, Moin, Tal-Singer, Ruth, Taylor, Amy E., Taylor, Kent D., Telen, Marilyn J., Thai, Khanh K., Tiwari, Hemant, Turman, Constance, Tyrfingsson, Thorarinn, Wall, Tamara L., Walters, Robin G., Weir, David R., Weiss, Scott T., White, Wendy B., Whitfield, John B., Wiggins, Kerri L., Willemsen, Gonneke, Willer, Cristen J., Winsvold, Bendik S., Xu, Huichun, Yanek, Lisa R., Yin, Jie, Young, Kristin L., Young, Kendra A., Yu, Bing, Zhao, Wei, Zhou, Wei, Zöllner, Sebastian, Zuccolo, Luisa, Batini, Chiara, Bergen, Andrew W., Bierut, Laura J., David, Sean P., Gagliano Taliun, Sarah A., Hancock, Dana B., Jiang, Bibo, Munafò, Marcus R., Thorgeirsson, Thorgeir E., Liu, Dajiang J., and Vrieze, Scott
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- 2022
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44. Stroke genetics informs drug discovery and risk prediction across ancestries
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Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie
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- 2022
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45. Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
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Ishigaki, Kazuyoshi, Sakaue, Saori, Terao, Chikashi, Luo, Yang, Sonehara, Kyuto, Yamaguchi, Kensuke, Amariuta, Tiffany, Too, Chun Lai, Laufer, Vincent A., Scott, Ian C., Viatte, Sebastien, Takahashi, Meiko, Ohmura, Koichiro, Murasawa, Akira, Hashimoto, Motomu, Ito, Hiromu, Hammoudeh, Mohammed, Emadi, Samar Al, Masri, Basel K., Halabi, Hussein, Badsha, Humeira, Uthman, Imad W., Wu, Xin, Lin, Li, Li, Ting, Plant, Darren, Barton, Anne, Orozco, Gisela, Verstappen, Suzanne M. M., Bowes, John, MacGregor, Alexander J., Honda, Suguru, Koido, Masaru, Tomizuka, Kohei, Kamatani, Yoichiro, Tanaka, Hiroaki, Tanaka, Eiichi, Suzuki, Akari, Maeda, Yuichi, Yamamoto, Kenichi, Miyawaki, Satoru, Xie, Gang, Zhang, Jinyi, Amos, Christopher I., Keystone, Edward, Wolbink, Gertjan, van der Horst-Bruinsma, Irene, Cui, Jing, Liao, Katherine P., Carroll, Robert J., Lee, Hye-Soon, Bang, So-Young, Siminovitch, Katherine A., de Vries, Niek, Alfredsson, Lars, Rantapää-Dahlqvist, Solbritt, Karlson, Elizabeth W., Bae, Sang-Cheol, Kimberly, Robert P., Edberg, Jeffrey C., Mariette, Xavier, Huizinga, Tom, Dieudé, Philippe, Schneider, Matthias, Kerick, Martin, Denny, Joshua C., Matsuda, Koichi, Matsuo, Keitaro, Mimori, Tsuneyo, Matsuda, Fumihiko, Fujio, Keishi, Tanaka, Yoshiya, Kumanogoh, Atsushi, Traylor, Matthew, Lewis, Cathryn M., Eyre, Stephen, Xu, Huji, Saxena, Richa, Arayssi, Thurayya, Kochi, Yuta, Ikari, Katsunori, Harigai, Masayoshi, Gregersen, Peter K., Yamamoto, Kazuhiko, Louis Bridges, Jr, S., Padyukov, Leonid, Martin, Javier, Klareskog, Lars, Okada, Yukinori, and Raychaudhuri, Soumya
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- 2022
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46. Income and Employment of Patients at the Start of and During Follow-up After Palliative Radiation Therapy for Bone Metastasis
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Shirato, Hiroki, Harada, Hideyuki, Iwasaki, Yukako, Notsu, Akifumi, Yamada, Kazunari, Uezono, Haruka, Koide, Yutaro, Wada, Hitoshi, Kubota, Hikaru, Shikama, Naoto, Yamazaki, Takuya, Ito, Kei, Heianna, Joichi, Okada, Yukinori, Tonari, Ayako, Takahashi, Shigeo, Kosugi, Takashi, Ejima, Yasuo, Katoh, Norio, Yoshida, Kayo, Komiyama, Takafumi, Uchida, Nobue, Miwa, Misako, Watanabe, Miho, Nagakura, Hisayasu, Saito, Tetsuo, Ikeda, Hiroko, Asakawa, Isao, Seiichiro, Tateishi, Takahashi, Takeo, and Shigematsu, Naoyuki
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- 2023
- Full Text
- View/download PDF
47. Identification of type 2 diabetes loci in 433,540 East Asian individuals
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Spracklen, Cassandra N, Horikoshi, Momoko, Kim, Young Jin, Lin, Kuang, Bragg, Fiona, Moon, Sanghoon, Suzuki, Ken, Tam, Claudia HT, Tabara, Yasuharu, Kwak, Soo-Heon, Takeuchi, Fumihiko, Long, Jirong, Lim, Victor JY, Chai, Jin-Fang, Chen, Chien-Hsiun, Nakatochi, Masahiro, Yao, Jie, Choi, Hyeok Sun, Iyengar, Apoorva K, Perrin, Hannah J, Brotman, Sarah M, van de Bunt, Martijn, Gloyn, Anna L, Below, Jennifer E, Boehnke, Michael, Bowden, Donald W, Chambers, John C, Mahajan, Anubha, McCarthy, Mark I, Ng, Maggie CY, Petty, Lauren E, Zhang, Weihua, Morris, Andrew P, Adair, Linda S, Akiyama, Masato, Bian, Zheng, Chan, Juliana CN, Chang, Li-Ching, Chee, Miao-Li, Chen, Yii-Der Ida, Chen, Yuan-Tsong, Chen, Zhengming, Chuang, Lee-Ming, Du, Shufa, Gordon-Larsen, Penny, Gross, Myron, Guo, Xiuqing, Guo, Yu, Han, Sohee, Howard, Annie-Green, Huang, Wei, Hung, Yi-Jen, Hwang, Mi Yeong, Hwu, Chii-Min, Ichihara, Sahoko, Isono, Masato, Jang, Hye-Mi, Jiang, Guozhi, Jonas, Jost B, Kamatani, Yoichiro, Katsuya, Tomohiro, Kawaguchi, Takahisa, Khor, Chiea-Chuen, Kohara, Katsuhiko, Lee, Myung-Shik, Lee, Nanette R, Li, Liming, Liu, Jianjun, Luk, Andrea O, Lv, Jun, Okada, Yukinori, Pereira, Mark A, Sabanayagam, Charumathi, Shi, Jinxiu, Shin, Dong Mun, So, Wing Yee, Takahashi, Atsushi, Tomlinson, Brian, Tsai, Fuu-Jen, van Dam, Rob M, Xiang, Yong-Bing, Yamamoto, Ken, Yamauchi, Toshimasa, Yoon, Kyungheon, Yu, Canqing, Yuan, Jian-Min, Zhang, Liang, Zheng, Wei, Igase, Michiya, Cho, Yoon Shin, Rotter, Jerome I, Wang, Ya-Xing, Sheu, Wayne HH, Yokota, Mitsuhiro, Wu, Jer-Yuarn, Cheng, Ching-Yu, Wong, Tien-Yin, Shu, Xiao-Ou, Kato, Norihiro, and Park, Kyong-Soo
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Human Genome ,Diabetes ,Biotechnology ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Metabolic and endocrine ,Aldehyde Dehydrogenase ,Mitochondrial ,Alleles ,Ankyrins ,Asian People ,Body Mass Index ,Case-Control Studies ,Diabetes Mellitus ,Type 2 ,Europe ,Eye Proteins ,Asia ,Eastern ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Homeodomain Proteins ,Humans ,Male ,Nerve Tissue Proteins ,RNA ,Messenger ,Transcription Factors ,Transcription ,Genetic ,General Science & Technology - Abstract
Meta-analyses of genome-wide association studies (GWAS) have identified more than 240 loci that are associated with type 2 diabetes (T2D)1,2; however, most of these loci have been identified in analyses of individuals with European ancestry. Here, to examine T2D risk in East Asian individuals, we carried out a meta-analysis of GWAS data from 77,418 individuals with T2D and 356,122 healthy control individuals. In the main analysis, we identified 301 distinct association signals at 183 loci, and across T2D association models with and without consideration of body mass index and sex, we identified 61 loci that are newly implicated in predisposition to T2D. Common variants associated with T2D in both East Asian and European populations exhibited strongly correlated effect sizes. Previously undescribed associations include signals in or near GDAP1, PTF1A, SIX3, ALDH2, a microRNA cluster, and genes that affect the differentiation of muscle and adipose cells3. At another locus, expression quantitative trait loci at two overlapping T2D signals affect two genes-NKX6-3 and ANK1-in different tissues4-6. Association studies in diverse populations identify additional loci and elucidate disease-associated genes, biology, and pathways.
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- 2020
48. Cerebral small vessel disease genomics and its implications across the lifespan
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Sargurupremraj, Muralidharan, Suzuki, Hideaki, Jian, Xueqiu, Sarnowski, Chloé, Evans, Tavia E, Bis, Joshua C, Eiriksdottir, Gudny, Sakaue, Saori, Terzikhan, Natalie, Habes, Mohamad, Zhao, Wei, Armstrong, Nicola J, Hofer, Edith, Yanek, Lisa R, Hagenaars, Saskia P, Kumar, Rajan B, van den Akker, Erik B, McWhirter, Rebekah E, Trompet, Stella, Mishra, Aniket, Saba, Yasaman, Satizabal, Claudia L, Beaudet, Gregory, Petit, Laurent, Tsuchida, Ami, Zago, Laure, Schilling, Sabrina, Sigurdsson, Sigurdur, Gottesman, Rebecca F, Lewis, Cora E, Aggarwal, Neelum T, Lopez, Oscar L, Smith, Jennifer A, Valdés Hernández, Maria C, van der Grond, Jeroen, Wright, Margaret J, Knol, Maria J, Dörr, Marcus, Thomson, Russell J, Bordes, Constance, Le Grand, Quentin, Duperron, Marie-Gabrielle, Smith, Albert V, Knopman, David S, Schreiner, Pamela J, Evans, Denis A, Rotter, Jerome I, Beiser, Alexa S, Maniega, Susana Muñoz, Beekman, Marian, Trollor, Julian, Stott, David J, Vernooij, Meike W, Wittfeld, Katharina, Niessen, Wiro J, Soumaré, Aicha, Boerwinkle, Eric, Sidney, Stephen, Turner, Stephen T, Davies, Gail, Thalamuthu, Anbupalam, Völker, Uwe, van Buchem, Mark A, Bryan, R Nick, Dupuis, Josée, Bastin, Mark E, Ames, David, Teumer, Alexander, Amouyel, Philippe, Kwok, John B, Bülow, Robin, Deary, Ian J, Schofield, Peter R, Brodaty, Henry, Jiang, Jiyang, Tabara, Yasuharu, Setoh, Kazuya, Miyamoto, Susumu, Yoshida, Kazumichi, Nagata, Manabu, Kamatani, Yoichiro, Matsuda, Fumihiko, Psaty, Bruce M, Bennett, David A, De Jager, Philip L, Mosley, Thomas H, Sachdev, Perminder S, Schmidt, Reinhold, Warren, Helen R, Evangelou, Evangelos, Trégouët, David-Alexandre, Ikram, Mohammad A, Wen, Wei, DeCarli, Charles, Srikanth, Velandai K, Jukema, J Wouter, Slagboom, Eline P, Kardia, Sharon LR, Okada, Yukinori, and Mazoyer, Bernard
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Epidemiology ,Biological Sciences ,Health Sciences ,Genetics ,Neurosciences ,Dementia ,Hypertension ,Clinical Research ,Human Genome ,Prevention ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Brain Disorders ,Neurodegenerative ,Stroke ,Biotechnology ,Acquired Cognitive Impairment ,Alzheimer's Disease Related Dementias (ADRD) ,Aging ,Alzheimer's Disease ,Vascular Cognitive Impairment/Dementia ,2.1 Biological and endogenous factors ,Aetiology ,Cardiovascular ,Neurological ,Adult ,Aged ,Aged ,80 and over ,Alzheimer Disease ,Cerebral Small Vessel Diseases ,Diffusion Tensor Imaging ,Female ,Genetic Loci ,Genome-Wide Association Study ,Humans ,Male ,Medical History Taking ,Mendelian Randomization Analysis ,Middle Aged ,Risk Assessment ,Risk Factors ,White Matter ,Young Adult ,International Network against Thrombosis (INVENT) Consortium ,International Headache Genomics Consortium - Abstract
White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.
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- 2020
49. Polygenic burden in focal and generalized epilepsies
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Leu, Costin, Stevelink, Remi, Smith, Alexander W, Goleva, Slavina B, Kanai, Masahiro, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Koeleman, Bobby PC, Lerche, Holger, Jehi, Lara, Davis, Lea K, Najm, Imad M, Palotie, Aarno, Daly, Mark J, Busch, Robyn M, Consortium, Epi25, and Lal, Dennis
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Biomedical and Clinical Sciences ,Clinical Research ,Neurosciences ,Brain Disorders ,Neurodegenerative ,Epilepsy ,Genetics ,Human Genome ,2.1 Biological and endogenous factors ,Aetiology ,Good Health and Well Being ,Cohort Studies ,Cost of Illness ,Databases ,Factual ,Epilepsies ,Partial ,Epilepsy ,Generalized ,Female ,Genetic Predisposition to Disease ,Genetic Variation ,Genome-Wide Association Study ,Humans ,Male ,Multifactorial Inheritance ,Polymorphism ,Single Nucleotide ,White People ,Epi25 Consortium ,common variant risk ,epilepsy ,genetic generalized epilepsy ,genetics ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Neurology & Neurosurgery ,Biomedical and clinical sciences ,Health sciences ,Psychology - Abstract
Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japanese-ancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10-15; Cleveland: P = 2.85×10-4; Finnish-ancestry Epi25: P = 1.80×10-4) or population controls (Epi25: P = 2.35×10-70; Cleveland: P = 1.43×10-7; Finnish-ancestry Epi25: P = 3.11×10-4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10-4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10-19; Cleveland: P = 1.69×10-6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10-15; Cleveland: P = 1.39×10-2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls-in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment.
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- 2019
50. Impact of accumulative smoking exposure and chronic obstructive pulmonary disease on COVID-19 outcomes: report based on findings from the Japan COVID-19 task force
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Watase, Mayuko, Masaki, Katsunori, Chubachi, Shotaro, Namkoong, Ho, Tanaka, Hiromu, Lee, Ho, Fukushima, Takahiro, Otake, Shiro, Nakagawara, Kensuke, Kusumoto, Tatsuya, Asakura, Takanori, Kamata, Hirofumi, Ishii, Makoto, Hasegawa, Naoki, Oyamada, Yoshitaka, Harada, Norihiro, Ueda, Tetsuya, Ueda, Soichiro, Ishiguro, Takashi, Arimura, Ken, Saito, Fukuki, Yoshiyama, Takashi, Nakano, Yasushi, Mutoh, Yoshikazu, Suzuki, Yusuke, Edahiro, Ryuya, Sano, Hirohito, Sato, Yasunori, Okada, Yukinori, Koike, Ryuji, Kitagawa, Yuko, Tokunaga, Katsushi, Kimura, Akinori, Imoto, Seiya, Miyano, Satoru, Ogawa, Seishi, Kanai, Takanori, and Fukunaga, Koichi
- Published
- 2023
- Full Text
- View/download PDF
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