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45 results on '"Khalid, Shareef"'

1. Identification and characterization of human GDF15 knockouts

Author

Gurtan, Allan M., Khalid, Shareef, Koch, Christopher, Khan, Maleeha Zaman, Lamarche, Lindsey B., Splawski, Igor, Dolan, Elizabeth, Carrion, Ana M., Zessis, Richard, Clement, Matthew E., Chen, Zhiping, Lindsley, Loren D., Chiu, Yu-Hsin, Streeper, Ryan S., Denning, Daniel P., Goldfine, Allison B., Doyon, Brian, Abbasi, Ali, Harrow, Jennifer L., Tsunoyama, Kazuhisa, Asaumi, Makoto, Kou, Ikuyo, Shuldiner, Alan R., Rodriguez-Flores, Juan L., Rasheed, Asif, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Raza, Syed Shahzaib, Sultana, Riffat, Jalal, Anjum, Saeed, Muhammad Hamid, Abbas, Shahid, Memon, Fazal Rehman, Ishaq, Mohammad, Dominy, John E., and Saleheen, Danish

Published
2024
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2. NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke

Author

Rodriguez-Flores, Juan Lorenzo, Khalid, Shareef, Parikshak, Neelroop, Rasheed, Asif, Ye, Bin, Kapoor, Manav, Backman, Joshua, Sepehrband, Farshid, Gioia, Silvio Alessandro Di, Gelfman, Sahar, De, Tanima, Banerjee, Nilanjana, Sharma, Deepika, Martinez, Hector, Castaneda, Sofia, D’Ambrosio, David, Zhang, Xingmin A., Xun, Pengcheng, Tsai, Ellen, Tsai, I-Chun, Khan, Maleeha Zaman, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Mahmood, Khalid, Salam, Tanvir Us, Hussain, Muhammad, Iqbal, Javed, Aslam, Faizan, Cantor, Michael N., Tzoneva, Gannie, Overton, John, Marchini, Jonathan, Reid, Jeffrey G., Baras, Aris, Verweij, Niek, Lotta, Luca A., Coppola, Giovanni, Karalis, Katia, Economides, Aris, Fazio, Sergio, Liedtke, Wolfgang, Danesh, John, Kamal, Ayeesha, Frossard, Philippe, Coleman, Thomas, Shuldiner, Alan R., and Saleheen, Danish

Published
2024
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3. Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

Author

Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Blumenfeld, Andrew, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lotta, Luca A., Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Overton, John D., Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Pradhan, Manasi, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Wang, Louise, Desai, Heena, Verma, Shefali S., Le, Anh, Hausler, Ryan, Verma, Anurag, Judy, Renae, Doucette, Abigail, Gabriel, Peter E., Nathanson, Katherine L., Damrauer, Scott M., Mowery, Danielle L., Ritchie, Marylyn D., Kember, Rachel L., and Maxwell, Kara N.

Published
2022
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4. Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study

Author

Sun, Jiangming, Borné, Yan, Edsfeldt, Andreas, Wang, Yunpeng, Pan, Mengyu, Melander, Olle, Engström, Gunnar, Gonçalves, Isabel, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Khalid, Shareef, Reid, Jeffrey G., Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Yadav, Ashish, Jones, Marcus B., and Mitnaul, Lyndon J.

Published
2023
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5. “PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black Patients”

Author

Cappadocia, Jacqueline, primary, Aiello, Lisa B., additional, Kelley, Michael J., additional, Katona, Bryson W., additional, Maxwell, Kara N., additional, Verma, Anurag, additional, Verma, Shefali S., additional, Bradford, Yuki, additional, Brock, Ashlei, additional, DerOhannessian, Stephanie, additional, Dudek, Scott, additional, Dunn, Joseph, additional, Drivas, Theodore, additional, Haubein, Ned, additional, Hu-Sain, Khadijah, additional, Judy, Renae, additional, Kloter, Ashley, additional, Ko, Yi-An, additional, Livingstone, Meghan, additional, Morrel, Linda, additional, Morse, Colleen, additional, Poindexter, Afiya, additional, Risman, Marjorie, additional, Tran, Teo, additional, Vadivieso, Fred, additional, Weaver, JoEllen, additional, Rader, Daniel J., additional, Ritchie, Marylyn D., additional, Feldman, Michael D., additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Overton, John D., additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Cantor, Michael, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Reid, Jeffrey G., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Abecasis, Goncalo, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Revez Ferreira, Manuel Allen, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Coppola, Giovanni, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Siminovitch, Katherine, additional, Praveen, Kavita, additional, Lotta, Luca A., additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Shuldiner, Alan, additional, Tzoneva, Gannie, additional, Rodriguez-Flores, Juan, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, Rana, Nadia, additional, Hernandez, Jaimee, additional, Baras, Aris, additional, Deubler, Andrew, additional, and Economides, Aris, additional

Published
2024
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6. Low MBOAT7 expression, a genetic risk for MASH, promotes a pro-fibrotic pathway involving hepatocyte TAZ upregulation

Author

Moore, Mary P., primary, Wang, Xiaobo, additional, Kennelly, John Paul, additional, Shi, Hongxue, additional, Ishino, Yuki, additional, Kano, Kuniyuki, additional, Aoki, Junken, additional, Cherubini, Alessandro, additional, Ronzoni, Luisa, additional, Guo, Xiuqing, additional, Chalasani, Naga P., additional, Khalid, Shareef, additional, Saleheen, Danish, additional, Mitsche, Mathew A., additional, Rotter, Jerome I., additional, Yates, Katherine P., additional, Valenti, Luca, additional, Kono, Nozomu, additional, Tontonoz, Peter, additional, and Tabas, Ira, additional

Published
2024
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7. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Author

Siminovitch, Katherine A., Hirschfield, Gideon M., Mason, Andrew, Vincent, Catherine, Xie, Gang, Zhang, Jinyi, Tang, Ruqi, Ma, Xiong, Li, Zhiqiang, Shi, Yongyong, Affronti, Andrea, Almasio, Piero L., Alvaro, Domenico, Andreone, Pietro, Andriulli, Angelo, Azzaroli, Francesco, Battezzati, Pier Maria, Benedetti, Antonio, Bragazzi, MariaConsiglia, Brunetto, Maurizia, Bruno, Savino, Calvaruso, Vincenza, Cardinale, Vincenzo, Casella, Giovanni, Cazzagon, Nora, Ciaccio, Antonio, Coco, Barbara, Colli, Agostino, Colloredo, Guido, Colombo, Massimo, Colombo, Silvia, Cristoferi, Laura, Cursaro, Carmela, Crocè, Lory Saveria, Crosignani, Andrea, D’Amato, Daphne, Donato, Francesca, Elia, Gianfranco, Fabris, Luca, Fagiuoli, Stefano, Ferrari, Carlo, Floreani, Annarosa, Galli, Andrea, Giannini, Edoardo, Grattagliano, Ignazio, Lampertico, Pietro, Lleo, Ana, Malinverno, Federica, Mancuso, Clara, Marra, Fabio, Marzioni, Marco, Massironi, Sara, Mattalia, Alberto, Miele, Luca, Milani, Chiara, Morini, Lorenzo, Morisco, Filomena, Muratori, Luigi, Muratori, Paolo, Niro, Grazia A., O’Donnell, Sarah, Picciotto, Antonio, Portincasa, Piero, Rigamonti, Cristina, Ronca, Vincenzo, Rosina, Floriano, Spinzi, Giancarlo, Strazzabosco, Mario, Tarocchi, Mirko, Tiribelli, Claudio, Toniutto, Pierluigi, Valenti, Luca, Vinci, Maria, Zuin, Massimo, Nakamura, Hitomi, Abiru, Seigo, Nagaoka, Shinya, Komori, Atsumasa, Yatsuhashi, Hiroshi, Ishibashi, Hiromi, Ito, Masahiro, Migita, Kiyoshi, Ohira, Hiromasa, Katsushima, Shinji, Naganuma, Atsushi, Sugi, Kazuhiro, Komatsu, Tatsuji, Mannami, Tomohiko, Matsushita, Kouki, Yoshizawa, Kaname, Makita, Fujio, Nikami, Toshiki, Nishimura, Hideo, Kouno, Hiroshi, Kouno, Hirotaka, Ota, Hajime, Komura, Takuya, Nakamura, Yoko, Shimada, Masaaki, Hirashima, Noboru, Komeda, Toshiki, Ario, Keisuke, Nakamuta, Makoto, Yamashita, Tsutomu, Furuta, Kiyoshi, Kikuchi, Masahiro, Naeshiro, Noriaki, Takahashi, Hironao, Mano, Yutaka, Tsunematsu, Seiji, Yabuuchi, Iwao, Shimada, Yusuke, Yamauchi, Kazuhiko, Sugimoto, Rie, Sakai, Hironori, Mita, Eiji, Koda, Masaharu, Tsuruta, Satoru, Kamitsukasa, Hiroshi, Sato, Takeaki, Masaki, Naohiko, Kobata, Tatsuro, Fukushima, Nobuyoshi, Ohara, Yukio, Muro, Toyokichi, Takesaki, Eiichi, Takaki, Hitoshi, Yamamoto, Tetsuo, Kato, Michio, Nagaoki, Yuko, Hayashi, Shigeki, Ishida, Jinya, Watanabe, Yukio, Kobayashi, Masakazu, Koga, Michiaki, Saoshiro, Takeo, Yagura, Michiyasu, Hirata, Keisuke, Tanaka, Atsushu, Takikawa, Hajime, Zeniya, Mikio, Abe, Masanori, Onji, Morikazu, Kaneko, Shuichi, Honda, Masao, Arai, Kuniaki, Arinaga-Hino, Teruko, Hashimoto, Etsuko, Taniai, Makiko, Umemura, Takeji, Joshita, Satoru, Nakao, Kazuhiko, Ichikawa, Tatsuki, Shibata, Hidetaka, Yamagiwa, Satoshi, Seike, Masataka, Honda, Koichi, Sakisaka, Shotaro, Takeyama, Yasuaki, Harada, Masaru, Senju, Michio, Yokosuka, Osamu, Kanda, Tatsuo, Ueno, Yoshiyuki, Kikuchi, Kentaro, Ebinuma, Hirotoshi, Himoto, Takashi, Yasunami, Michio, Murata, Kazumoto, Mizokami, Masashi, Kawata, Kazuhito, Shimoda, Shinji, Miyake, Yasuhiro, Takaki, Akinobu, Yamamoto, Kazuhide, Hirano, Katsuji, Ichida, Takafumi, Ido, Akio, Tsubouchi, Hirohito, Chayama, Kazuaki, Harada, Kenichi, Nakanuma, Yasuni, Maehara, Yoshihiko, Taketomi, Akinobu, Shirabe, Ken, Soejima, Yuji, Mori, Akira, Yagi, Shintaro, Uemoto, Shinji, H, Egawa, Tanaka, Tomohiro, Yamashiki, Noriyo, Tamura, Sumito, Sugawara, Yasuhiro, Kokudo, Norihiro, Juran, Brian D., Atkinson, Elizabeth J., Cheung, Angela, de Andrade, Mariza, Lazaridis, Konstantinos N., Chalasani, Naga, Luketic, Vel, Odin, Joseph, Chopra, Kapil, Baras, Aris, Horowitz, Julie, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mitnaul, Lyndon J., Sturgess, Richard, Healey, Christopher, Yeoman, Andrew, Gunasekera, Anton VJ., Kooner, Paul, Kapur, Kapil, Sathyanarayana, V., Kallis, Yiannis, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Rooney, Paul, Ramanaden, David, Evans, Richard, Mathialahan, Thiriloganathan, Gasem, Jaber, Shorrock, Christopher, Bhalme, Mahesh, Southern, Paul, Tibble, Jeremy A., Gorard, David A., Jones, Susan, Mells, George, Mulcahy, Victoria, Srivastava, Brijesh, Foxton, Matthew R., Collins, Carole E., Elphick, David, Karmo, Mazn, Porras-Perez, Francisco, Mendall, Michael, Yapp, Tom, Patel, Minesh, Ede, Roland, Sayer, Joanne, Jupp, James, Fisher, Neil, Carter, Martyn J., Koss, Konrad, Shah, Jayshri, Piotrowicz, Andrzej, Scott, Glyn, Grimley, Charles, Gooding, Ian R., Williams, Simon, Tidbury, Judith, Lim, Guan, Cheent, Kuldeep, Levi, Sass, Mansour, Dina, Beckley, Matilda, Hollywood, Coral, Wong, Terry, Marley, Richard, Ramage, John, Gordon, Harriet M., Ridpath, Jo, Ngatchu, Theodore, Bob Grover, Vijay Paul, Shidrawi, Ray G., Abouda, George, Corless, L., Narain, Mark, Rees, Ian, Brown, Ashley, Taylor-Robinson, Simon, Wilkins, Joy, Grellier, Leonie, Banim, Paul, Das, Debasish, Heneghan, Michael A., Curtis, Howard, Matthews, Helen C., Mohammed, Faiyaz, Aldersley, Mark, Srirajaskanthan, Raj, Walker, Giles, McNair, Alistair, Sharif, Amar, Sen, Sambit, Bird, George, Prince, Martin I., Prasad, Geeta, Kitchen, Paul, Barnardo, Adrian, Oza, Chirag, Sivaramakrishnan, Nurani N., Gupta, Prakash, Shah, Amir, Evans, Chris DJ., Saha, Subrata, Pollock, Katharine, Bramley, Peter, Mukhopadhya, Ashis, Barclay, Stephen T., McDonald, Natasha, Bathgate, Andrew J., Palmer, Kelvin, Dillon, John F., Rushbrook, Simon M., Przemioslo, Robert, McDonald, Chris, Millar, Andrew, Tai, Cheh, Mitchell, Stephen, Metcalf, Jane, Shaukat, Syed, Ninkovic, Mary, Shmueli, Udi, Davis, Andrew, Naqvi, Asifabbas, Lee, Tom JW., Ryder, Stephen, Collier, Jane, Klass, Howard, Cramp, Matthew E., Sharer, Nichols, Aspinall, Richard, Ghosh, Deb, Douds, Andrew C., Booth, Jonathan, Williams, Earl, Hussaini, Hyder, Christie, John, Mann, Steven, Thorburn, Douglas, Marshall, Aileen, Patanwala, Imran, Ala, Aftab, Maltby, Julia, Matthew, Ray, Corbett, Chris, Vyas, Sam, Singhal, Saket, Gleeson, Dermot, Misra, Sharat, Butterworth, Jeff, George, Keith, Harding, Tim, Douglass, Andrew, Mitchison, Harriet, Panter, Simon, Shearman, Jeremy, Bray, Gary, Roberts, Michael, Butcher, Graham, Forton, Daniel, Mahmood, Zahid, Cowan, Matthew, Das, Debashis, Ch’ng, Chin Lye, Rahman, Mesbah, Whatley, Gregory C.A., Wesley, Emma, Mandal, Aditya, Jain, Sanjiv, Pereira, Stephen P., Wright, Mark, Trivedi, Palak, Gordon, Fiona H., Unitt, Esther, Palejwala, Altaf, Austin, Andrew, Vemala, Vishwaraj, Grant, Allister, Higham, Andrew D., Brind, Alison, Mathew, Ray, Cox, Mark, Ramakrishnan, Subramaniam, King, Alistair, Whalley, Simon, Fraser, Jocelyn, Thomson, S.J., Bell, Andrew, Wong, Voi Shim, Kia, Richard, Gee, Ian, Keld, Richard, Ransford, Rupert, Gotto, James, Millson, Charles, Cordell, Heather J., Fryett, James J., Ueno, Kazuko, Darlay, Rebecca, Aiba, Yoshihiro, Hitomi, Yuki, Kawashima, Minae, Nishida, Nao, Khor, Seik-Soon, Gervais, Olivier, Kawai, Yosuke, Nagasaki, Masao, Tokunaga, Katsushi, Gerussi, Alessio, Carbone, Marco, Asselta, Rosanna, Ferreira, Manuel A.R., Sun, Dylan, Jones, David E., Flack, Steven, Spicer, Ann, Mulcahy, Victoria L., Byan, Jinyoung, Han, Younghun, Sandford, Richard N., Amos, Christopher I., Seldin, Michael F., Invernizzi, Pietro, Nakamura, Minoru, and Mells, George F.

Published
2021
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8. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author

Alizadeh, Behrooz Z., Boezen, H. Marike, Franke, Lude, van der Harst, Pim, Navis, Gerjan, Rots, Marianne, Snieder, Harold, Swertz, Morris, Wolffenbuttel, Bruce H.R., Wijmenga, Cisca, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mitnaul, Lyndon J., Gorski, Mathias, Jung, Bettina, Li, Yong, Matias-Garcia, Pamela R., Wuttke, Matthias, Coassin, Stefan, Thio, Chris H.L., Kleber, Marcus E., Winkler, Thomas W., Wanner, Veronika, Chai, Jin-Fang, Chu, Audrey Y., Cocca, Massimiliano, Feitosa, Mary F., Ghasemi, Sahar, Hoppmann, Anselm, Horn, Katrin, Li, Man, Nutile, Teresa, Scholz, Markus, Sieber, Karsten B., Teumer, Alexander, Tin, Adrienne, Wang, Judy, Tayo, Bamidele O., Ahluwalia, Tarunveer S., Almgren, Peter, Bakker, Stephan J.L., Banas, Bernhard, Bansal, Nisha, Biggs, Mary L., Boerwinkle, Eric, Bottinger, Erwin P., Brenner, Hermann, Carroll, Robert J., Chalmers, John, Chee, Miao-Li, Chee, Miao-Ling, Cheng, Ching-Yu, Coresh, Josef, de Borst, Martin H., Degenhardt, Frauke, Eckardt, Kai-Uwe, Endlich, Karlhans, Franke, Andre, Freitag-Wolf, Sandra, Gampawar, Piyush, Gansevoort, Ron T., Ghanbari, Mohsen, Gieger, Christian, Hamet, Pavel, Ho, Kevin, Hofer, Edith, Holleczek, Bernd, Xian Foo, Valencia Hui, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M. Arfan, Josyula, Navya Shilpa, Kähönen, Mika, Khor, Chiea-Chuen, Koenig, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kühnel, Brigitte, Lange, Leslie A., Lehtimäki, Terho, Lieb, Wolfgang, Loos, Ruth J.F., Lukas, Mary Ann, Lyytikäinen, Leo-Pekka, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Milaneschi, Yuri, Mishra, Pashupati P., Mononen, Nina, Mychaleckyj, Josyf C., Nadkarni, Girish N., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., O’Donoghue, Michelle L., Orho-Melander, Marju, Pendergrass, Sarah A., Penninx, Brenda W.J.H., Preuss, Michael H., Psaty, Bruce M., Raffield, Laura M., Raitakari, Olli T., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Rosenkranz, Alexander R., Rossing, Peter, Rotter, Jerome I., Sabanayagam, Charumathi, Schmidt, Helena, Schmidt, Reinhold, Schöttker, Ben, Schulz, Christina-Alexandra, Sedaghat, Sanaz, Shaffer, Christian M., Strauch, Konstantin, Szymczak, Silke, Taylor, Kent D., Tremblay, Johanne, Chaker, Layal, van der Most, Peter J., Verweij, Niek, Völker, Uwe, Waldenberger, Melanie, Wallentin, Lars, Waterworth, Dawn M., White, Harvey D., Wilson, James G., Wong, Tien-Yin, Woodward, Mark, Yang, Qiong, Yasuda, Masayuki, Yerges-Armstrong, Laura M., Zhang, Yan, Wanner, Christoph, Böger, Carsten A., Köttgen, Anna, Kronenberg, Florian, Pattaro, Cristian, and Heid, Iris M.

Published
2021
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9. Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

Author

Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Yadav, Ashish, Jones, Marcus B., Mitnaul, Lyndon J., Kember, Rachel L., Merikangas, Alison K., Verma, Shefali S., Verma, Anurag, Judy, Renae, Damrauer, Scott M., Ritchie, Marylyn D., Rader, Daniel J., and Bućan, Maja

Published
2021
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10. Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers

Author

Wineland, Dylane, Le, Anh N., Hausler, Ryan, Kelly, Gregory, Barrett, Emanuel, Desai, Heena, Wubbenhorst, Bradley, Pluta, John, Bastian, Paul, Symecko, Heather, DʼAndrea, Kurt, Doucette, Abigail, Gabriel, Peter, Reiss, Kim A., Nayak, Anupma, Feldman, Michael, Domchek, Susan M., Nathanson, Katherine L., Maxwell, Kara N., Mansfield, Adam J., Locke, Adam, Poindexter, Afiya, Shuldiner, Alan, Li, Alexander, Lopez, Alexander, Hawes, Alicia, Averitt, Amelia, Damask, Amy, Deubler, Andrew, Ziyatdinov, Andrey, Marcketta, Anthony, Verma, Anurag, Moscati, Arden, Ayer, Ariane, Baras, Aris, Economides, Aris, Ghosh, Arkopravo, Brock, Ashlei, Kloter, Ashley, Rasool, Ayesha, Guvenek, Aysegul, Ye, Bin, Zhang, Blair, Boutkov, Boris, Forsythe, Caitlin, Sidore, Carlo, Paulding, Charles, Beechert, Christina, Gillies, Christopher, Morse, Colleen, Li, Dadong, Rader, Daniel J., Liu, Daren, Sharma, Deepika, Stahl, Eli, Jorgenson, Eric, Fuller, Erin D., Chen, Esteban, Maxwell, Evan K., Vadivieso, Fred, Tzoneva, Gannie, Hindy, George, Mitra, George, Coppola, Giovanni, Eom, Gisu, Abecasis, Goncalo, Kang, Hyun Min, Kosmicki, Jack, Hernandez, Jaimee, Freudenberg, Jan, Mighty, Jason, Staples, Jeffrey C., Reid, Jeffrey G., Mbatchou, Joelle, Weaver, JoEllen, Overton, John D., Bovijn, Jonas, Marchini, Jonathan, Dunn, Joseph, Backman, Joshua, Rodriguez-Flores, Juan, Siminovitch, Katherine, Sun, Kathie, Praveen, Kavita, Hu-Sain, Khadijah, Manoochehri, Kia, Watanabe, Kyoko, Gurski, Lauren, Dobbyn, Lee, Morrel, Linda, Widom, Louis, Lotta, Luca A., Habegger, Lukas, Mitnaul, Lyndon J., Pradhan, Manasi, Kapoor, Manav, Ferreira, Manuel Allen Revez, Jones, Marcus B., Padilla, Maria Sotiropoulos, Risman, Marjorie, Haas, Mary, Ritchie, Marylyn D., Orelus, Max, Livingstone, Meghan, Cantor, Michael, Feldman, Michael D., Kessler, Michael, Lattari, Michael, LeBlanc, Michelle G., Riaz, Moeen, Nafde, Mona, Rana, Nadia, Lin, Nan, Haubein, Ned, Verweij, Niek, Banerjee, Nilanjana, Nishtala, Nirupama, Krasheninina, Olga, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Panea, Razvan, Judy, Renae, Ulloa, Ricardo H., Lanche, Rouel, Gelfman, Sahar, Malhotra, Sameer, Wolf, Sarah E., Dudek, Scott, OʼKeeffe, Sean, Khalid, Shareef, Verma, Shefali S., Chen, Siying, DerOhannessian, Stephanie, Balasubramanian, Suganthi, Gokhale, Sujit, Bao, Suying, De, Tanima, Tran, Teo, Drivas, Theodore, Schleicher, Thomas D., Polanco, Tommy, Rajagopal, Veera, Salerno, William, Bai, Xiaodong, Ko, Yi-An, Bradford, Yuki, and Gu, Zhenhua

Published
2023
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12. Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Author

Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., and Reid, Jeffrey G.

Published
2021
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13. Identification and characterization of human GDF15 knockouts

Author

Gurtan, Allan M, primary, Khalid, Shareef, additional, Koch, Christopher, additional, Khan, Maleeha Z, additional, Lamarche, Lindsey B, additional, Dolan, Elizabeth, additional, Carrion, Ana M, additional, Zessis, Richard, additional, Clement, Matthew E, additional, Chen, Zhiping, additional, Lindsley, Loren D, additional, Chiu, Yu-Hsin, additional, Streeper, Ryan S, additional, Denning, Daniel P, additional, Goldfine, Allison B, additional, Doyon, Brian, additional, Abbasi, Ali, additional, Harrow, Jennifer L, additional, Tsunoyama, Kazuhisa, additional, Asaumi, Makoto, additional, Kou, Ikuyo, additional, Shuldiner, Alan R, additional, Rodriguez-Flores, Juan L, additional, Rasheed, Asif, additional, Jahanzaib, Muhammad, additional, Mian, Muhammad Rehan, additional, Liaqat, Muhammad Bilal, additional, Raza, Syed Shahzaib, additional, Sultana, Riffat, additional, Jalal, Anjum, additional, Saeed, Muhammad Hamid, additional, Abbas, Shahid, additional, Memon, Fazal Rehman, additional, Ishaq, Muhammad, additional, Dominy, John E, additional, and Saleheen, Danish, additional

Published
2024
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14. Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk

Author

Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, MHI, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, B, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Revez Ferreira, Manuel Allen, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Shuldiner, Alan, Powers, Jacquelyn, Wachtel, Heather, Trujillo, Erica, Desai, Heena, Hausler, Ryan, Conway, Laura, Wubbenhorst, Bradley, Domchek, Susan M., Nathanson, Katherine L., and Maxwell, Kara N.

Published
2025
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15. NOTCH3p.Arg1231Cys is Markedly Enriched in South Asians and Associated with Stroke

Author

Rodriguez-Flores, Juan L., primary, Khalid, Shareef, additional, Parikshak, Neelroop, additional, Rasheed, Asif, additional, Ye, Bin, additional, Kapoor, Manav, additional, Backman, Joshua, additional, Sepehrband, Farshid, additional, DiGioia, Silvio Alessandro, additional, Gelfman, Sahar, additional, De, Tanima, additional, Banerjee, Nilanjana, additional, Sharma, Deepika, additional, Martinez, Hector, additional, Castaneda, Sofia, additional, D’Ambrosio, David, additional, Zhang, Xingmin A., additional, Xun, Pengcheng, additional, Tsai, Ellen, additional, Tsai, I-Chun, additional, Center, Regeneron Genetics, additional, Jahanzaib, Muhammad, additional, Khan, Maleeha Zaman, additional, Mian, Muhammad Rehan, additional, Liaqat, Muhammad Bilal, additional, Mahmood, Khalid, additional, Salam, Tanvir Us, additional, Hussain, Muhammad, additional, Iqbal, Javed, additional, Aslam, Faizan, additional, Cantor, Michael N., additional, Tzoneva, Gannie, additional, Overton, John, additional, Marchini, Jonathan, additional, Reid, Jeff, additional, Baras, Aris, additional, Verweij, Niek, additional, Lotta, Luca A., additional, Coppola, Giovanni, additional, Karalis, Katia, additional, Economides, Aris, additional, Fazio, Sergio, additional, Liedtke, Wolfgang, additional, Danesh, John, additional, Kamal, Ayeesha, additional, Frossard, Philippe, additional, Coleman, Thomas, additional, Shuldiner, Alan R., additional, and Saleheen, Danish, additional

Published
2023
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17. PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

Author

Verma, Anurag, Verma, Shefali S., Bradford, Yuki, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Dunn, Joseph, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Kloter, Ashley, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Poindexter, Afiya, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Ulloa, Ricardo H., Averitt, Amelia, Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Balasubramanian, Suganthi, Bao, Suying, Boutkov, Boris, Chen, Siying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Mitra, George, Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Sun, Kathie, Abecasis, Goncalo, Backman, Joshua, Damask, Amy, Dobbyn, Lee, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gillies, Christopher, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Liu, Daren, Locke, Adam, Marchini, Jonathan, Marcketta, Anthony, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Watanabe, Kyoko, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Ayer, Ariane, Guvenek, Aysegul, Hindy, George, Coppola, Giovanni, Freudenberg, Jan, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Haas, Mary, Riaz, Moeen, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gelfman, Sahar, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Chen, Esteban, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Baras, Aris, Deubler, Andrew, Economides, Aris, Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., and Maxwell, Kara N.

Published
2024
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18. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

Author

Xiao, Brenda, primary, Velez Edwards, Digna R., additional, Lucas, Anastasia, additional, Drivas, Theodore, additional, Gray, Kathryn, additional, Keating, Brendan, additional, Weng, Chunhua, additional, Jarvik, Gail P., additional, Hakonarson, Hakon, additional, Kottyan, Leah, additional, Elhadad, Noemie, additional, Wei, Wei‐Qi, additional, Luo, Yuan, additional, Kim, Dokyoon, additional, Ritchie, Marylyn, additional, Verma, Shefali Setia, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Deubler, Andrew, additional, Economides, Aris, additional, Karalis, Katia, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Siminovitch, Katherine, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Padilla, Maria Sotiropoulos, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Schleicher, Thomas D., additional, Widom, Louis, additional, Wolf, Sarah E., additional, Ulloa, Ricardo H., additional, Averitt, Amelia, additional, Banerjee, Nilanjana, additional, Li, Dadong, additional, Malhotra, Sameer, additional, Sharma, Deepika, additional, Staples, Jeffrey, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Bao, Suying, additional, Boutkov, Boris, additional, Chen, Siying, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mitra, George, additional, Nafde, Mona, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Sun, Kathie, additional, Backman, Joshua, additional, Damask, Amy, additional, Dobbyn, Lee, additional, Ferreira, Manuel Allen Revez, additional, Ghosh, Arkopravo, additional, Gillies, Christopher, additional, Gurski, Lauren, additional, Jorgenson, Eric, additional, Kang, Hyun Min, additional, Kessler, Michael, additional, Kosmicki, Jack, additional, Li, Alexander, additional, Lin, Nan, additional, Liu, Daren, additional, Locke, Adam, additional, Marchini, Jonathan, additional, Marcketta, Anthony, additional, Mbatchou, Joelle, additional, Moscati, Arden, additional, Paulding, Charles, additional, Sidore, Carlo, additional, Stahl, Eli, additional, Watanabe, Kyoko, additional, Ye, Bin, additional, Zhang, Blair, additional, Ziyatdinov, Andrey, additional, Ayer, Ariane, additional, Guvenek, Aysegul, additional, Hindy, George, additional, Freudenberg, Jan, additional, Bovijn, Jonas, additional, Praveen, Kavita, additional, Kapoor, Manav, additional, Haas, Mary, additional, Riaz, Moeen, additional, Verweij, Niek, additional, Sosina, Olukayode, additional, Akbari, Parsa, additional, Nakka, Priyanka, additional, Gelfman, Sahar, additional, Gokhale, Sujit, additional, De, Tanima, additional, Rajagopal, Veera, additional, Tzoneva, Gannie, additional, Rodriguez‐Flores, Juan, additional, Chim, Shek Man, additional, Donato, Valerio, additional, Fernandez, Daniel, additional, Gatta, Giusy Della, additional, Di Gioia, Alessandro, additional, Howell, Kristen, additional, Khrimian, Lori, additional, Kim, Minhee, additional, Martinez, Hector, additional, Miloscio, Lawrence, additional, Nunez, Sheilyn, additional, Pavlopoulos, Elias, additional, Persaud, Trikaldarshi, additional, Chen, Esteban, additional, Jones, Marcus B., additional, LeBlanc, Michelle G., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nishtala, Nirupama, additional, and Rana, Nadia, additional

Published
2023
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19. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Author

Jurgens, Sean J., Choi, Seung Hoan, Morrill, Valerie N., Chaffin, Mark, Pirruccello, James P., Halford, Jennifer L., Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W., Oetjens, Matthew T., Lagerman, Braxton, vanMaanen, David P., Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Beechert, Christina, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, de, Tanima, Deubler, Andrew, Economides, Aris, Eom, Gisu, Ferreira, Manuel A. R., Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B., Karalis, Katia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lattari, Michael, Li, Dadong, Lopez, Alexander, Lotta, Luca A., Manoochehri, Kia, Mansfield, Adam J., Maxwell, Evan K., Mighty, Jason, Mitnaul, Lyndon J., Nafde, Mona, Nielsen, Jonas, O’Keeffe, Sean, Orelus, Max, Overton, John D., Padilla, Maria Sotiropoulos, Panea, Razvan, Polanco, Tommy, Pradhan, Manasi, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Schleicher, Thomas D., Shuldiner, Alan, Siminovitch, Katherine, Staples, Jeffrey C., Ulloa, Ricardo H., Verweij, Niek, Widom, Louis, Wolf, Sarah E., Aragam, Krishna G., Lunetta, Kathryn L., Haggerty, Christopher M., Lubitz, Steven A., Ellinor, Patrick T., Cardiology, Graduate School, and ACS - Amsterdam Cardiovascular Sciences

Subjects
Genetics
Abstract

Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete. Here, we analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing. We identified 57 gene-based associations, with broad replication of novel signals in Geisinger MyCode. There was a striking risk associated with mutations in known Mendelian disease genes, including MYBPC3, LDLR, GCK, PKD1 and TTN. Many genes showed independent convergence of rare and common variant evidence, including an association between GIGYF1 and type 2 diabetes. We identified several large effect associations for height and 18 unique genes associated with blood lipid or glucose levels. Finally, we found that between 1.0% and 2.4% of participants carried rare potentially pathogenic variants for cardiometabolic disorders. These findings may facilitate studies aimed at therapeutics and screening of these common disorders.

Published
2022

20. Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study

Author

Manderstedt, Eric, primary, Lind‐Halldén, Christina, additional, Halldén, Christer, additional, Elf, Johan, additional, Svensson, Peter J., additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A., additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mighty, Jason, additional, and Mitnaul, Lyndon J., additional

Published
2022
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21. Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study

Author

Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, and Mitnaul, Lyndon J.

Published
2022
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22. Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index

Author

Gurtan, Allan, primary, Dominy, John, additional, Khalid, Shareef, additional, Vong, Linh, additional, Caplan, Shari, additional, Currie, Treeve, additional, Richards, Sean, additional, Lamarche, Lindsey, additional, Denning, Daniel, additional, Shpektor, Diana, additional, Gurinovich, Anastasia, additional, Rasheed, Asif, additional, Hameed, Shahid, additional, Saeed, Subhan, additional, Saleem, Imran, additional, Jalal, Anjum, additional, Abbas, Shahid, additional, Sultana, Raffat, additional, Rasheed, Syed Zahed, additional, Memon, Fazal-ur-Rehman, additional, Shah, Nabi, additional, Ishaq, Mohammad, additional, Khera, Amit V., additional, Danesh, John, additional, Frossard, Philippe, additional, and Saleheen, Danish, additional

Published
2022
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23. Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

Author

Wang, Louise, primary, Desai, Heena, additional, Verma, Shefali S., additional, Le, Anh, additional, Hausler, Ryan, additional, Verma, Anurag, additional, Judy, Renae, additional, Doucette, Abigail, additional, Gabriel, Peter E., additional, Nathanson, Katherine L., additional, Damrauer, Scott M., additional, Mowery, Danielle L., additional, Ritchie, Marylyn D., additional, Kember, Rachel L., additional, Maxwell, Kara N., additional, Abecasis, Goncalo, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Baras, Aris, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Jones, Marcus B., additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Lotta, Luca A., additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Mighty, Jason, additional, Mitnaul, Lyndon J., additional, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Overton, John D., additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Reid, Jeffrey G., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Manoochehri, Kia, additional, Pradhan, Manasi, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Ulloa, Ricardo H., additional, Widom, Louis, additional, and Wolf, Sarah E., additional

Published
2022
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24. Classic Thrombophilias and Thrombotic Risk Among Middle‐Aged and Older Adults: A Population‐Based Cohort Study

Author

Manderstedt, Eric, primary, Lind‐Halldén, Christina, additional, Halldén, Christer, additional, Elf, Johan, additional, Svensson, Peter J., additional, Dahlbäck, Björn, additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A., additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A, additional, Overton, John D, additional, Reid, Jeffrey G, additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D, additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D, additional, Padilla, Maria Sotiropoulos, additional, Widom, Louis, additional, Wolf, Sarah E, additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H, additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J, additional, Maxwell, Evan K, additional, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C, additional, Jones, Marcus B, additional, Mighty, Jason, additional, and Mitnaul, Lyndon J, additional

Published
2022
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25. Effect of hydrogen peroxide and saturated animal fats on blood lipids level of adult male rats

Author

Khalid Shareef and Maan Kallo

Subjects
hydrogen peroxide, saturated animal fats, blood lipids level, Education, Science (General), Q1-390
Abstract

Thirty two albino male adult healthy rats were used as a biological and experimental model for this study, their body weight ranged between 250-275g and aged 3-4 months. They were divided according to the body weight into four groups. The first group considered to be control group, feed ordinary diet and normal drinking water, the second group feed ordinary diet and giving 0.5% H2O2 in freshly prepared drinking water, which contains oxygen and hydroxyl free radicals. The third group feed atherogenic diet (normal diet containing 4.69% saturated animal fats and 0.26% cholesterol) and normal drinking water, and the fourth group feed atherogenic diet and 0.5% HjC^ in drinking water for 30days experimental period. Nutritional status (body mass, afford diet, eliminated feces, liver, heart, kidney weights and diet lipid absorption) were estimated. Serum total lipid, cholesterol, triglycerides, phospholipids and various lipoproteins were determined, atherogenic indices were calculated and the malondialdehyde levels of liver, heart, kidney tissues were estimated. Analysis of variance and Duncan multiple tests showed the highly effect of 0.5% HsOz with/without saturated animal fats and cholesterol, was caused a decrease in body mass, ingesting diet weights and body absorbable lipid and increase values of serum total lipids, cholesterol, triglyceride, very low density and low density lipoproteins, In addition, it caused an increase values of atherogenic indices and a decrease in high density lipoprotein. Also the atherogenic diet alone was caused a similar affect of hydrogen peroxide on rat's nutritional status and serum lipid profile, therefore, the interaction affect of those two agents together was caused increase values of rat serum lipids, lipoproteins, malondialdehyde and a decrease in high density lipoprotein value.

Published
2006
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26. Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Author

Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byun, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, Mells, George F., additional, Mason, Andrew, additional, Vincent, Catherine, additional, Xie, Gang, additional, Zhang, Jinyi, additional, Affronti, Andrea, additional, Almasio, Piero L., additional, Alvaro, Domenico, additional, Andreone, Pietro, additional, Andriulli, Angelo, additional, Azzaroli, Francesco, additional, Battezzati, Pier Maria, additional, Benedetti, Antonio, additional, Bragazzi, MariaConsiglia, additional, Brunetto, Maurizia, additional, Bruno, Savino, additional, Calvaruso, Vincenza, additional, Cardinale, Vincenzo, additional, Casella, Giovanni, additional, Cazzagon, Nora, additional, Ciaccio, Antonio, additional, Coco, Barbara, additional, Colli, Agostino, additional, Colloredo, Guido, additional, Colombo, Massimo, additional, Colombo, Silvia, additional, Cristoferi, Laura, additional, Cursaro, Carmela, additional, Crocè, Lory Saveria, additional, Crosignani, Andrea, additional, D’Amato, Daphne, additional, Donato, Francesca, additional, Elia, Gianfranco, additional, Fabris, Luca, additional, Fagiuoli, Stefano, additional, Ferrari, Carlo, additional, Floreani, Annarosa, additional, Galli, Andrea, additional, Giannini, Edoardo, additional, Grattagliano, Ignazio, additional, Lampertico, Pietro, additional, Lleo, Ana, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Marra, Fabio, additional, Marzioni, Marco, additional, Massironi, Sara, additional, Mattalia, Alberto, additional, Miele, Luca, additional, Milani, Chiara, additional, Morini, Lorenzo, additional, Morisco, Filomena, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Niro, Grazia A., additional, O’Donnell, Sarah, additional, Picciotto, Antonio, additional, Portincasa, Piero, additional, Rigamonti, Cristina, additional, Ronca, Vincenzo, additional, Rosina, Floriano, additional, Spinzi, Giancarlo, additional, Strazzabosco, Mario, additional, Tarocchi, Mirko, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Valenti, Luca, additional, Vinci, Maria, additional, Zuin, Massimo, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Migita, Kiyoshi, additional, Ohira, Hiromasa, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Tanaka, Atsushu, additional, Takikawa, Hajime, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Kawata, Kazuhito, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, H, Egawa, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, Kokudo, Norihiro, additional, Chalasani, Naga, additional, Luketic, Vel, additional, Odin, Joseph, additional, Chopra, Kapil, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mitnaul, Lyndon J., additional, Sturgess, Richard, additional, Healey, Christopher, additional, Yeoman, Andrew, additional, Gunasekera, Anton VJ., additional, Kooner, Paul, additional, Kapur, Kapil, additional, Sathyanarayana, V., additional, Kallis, Yiannis, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Rooney, Paul, additional, Ramanaden, David, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Gasem, Jaber, additional, Shorrock, Christopher, additional, Bhalme, Mahesh, additional, Southern, Paul, additional, Tibble, Jeremy A., additional, Gorard, David A., additional, Jones, Susan, additional, Mells, George, additional, Mulcahy, Victoria, additional, Srivastava, Brijesh, additional, Foxton, Matthew R., additional, Collins, Carole E., additional, Elphick, David, additional, Karmo, Mazn, additional, Porras-Perez, Francisco, additional, Mendall, Michael, additional, Yapp, Tom, additional, Patel, Minesh, additional, Ede, Roland, additional, Sayer, Joanne, additional, Jupp, James, additional, Fisher, Neil, additional, Carter, Martyn J., additional, Koss, Konrad, additional, Shah, Jayshri, additional, Piotrowicz, Andrzej, additional, Scott, Glyn, additional, Grimley, Charles, additional, Gooding, Ian R., additional, Williams, Simon, additional, Tidbury, Judith, additional, Lim, Guan, additional, Cheent, Kuldeep, additional, Levi, Sass, additional, Mansour, Dina, additional, Beckley, Matilda, additional, Hollywood, Coral, additional, Wong, Terry, additional, Marley, Richard, additional, Ramage, John, additional, Gordon, Harriet M., additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Bob Grover, Vijay Paul, additional, Shidrawi, Ray G., additional, Abouda, George, additional, Corless, L., additional, Narain, Mark, additional, Rees, Ian, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Wilkins, Joy, additional, Grellier, Leonie, additional, Banim, Paul, additional, Das, Debasish, additional, Heneghan, Michael A., additional, Curtis, Howard, additional, Matthews, Helen C., additional, Mohammed, Faiyaz, additional, Aldersley, Mark, additional, Srirajaskanthan, Raj, additional, Walker, Giles, additional, McNair, Alistair, additional, Sharif, Amar, additional, Sen, Sambit, additional, Bird, George, additional, Prince, Martin I., additional, Prasad, Geeta, additional, Kitchen, Paul, additional, Barnardo, Adrian, additional, Oza, Chirag, additional, Sivaramakrishnan, Nurani N., additional, Gupta, Prakash, additional, Shah, Amir, additional, Evans, Chris DJ., additional, Saha, Subrata, additional, Pollock, Katharine, additional, Bramley, Peter, additional, Mukhopadhya, Ashis, additional, Barclay, Stephen T., additional, McDonald, Natasha, additional, Bathgate, Andrew J., additional, Palmer, Kelvin, additional, Dillon, John F., additional, Rushbrook, Simon M., additional, Przemioslo, Robert, additional, McDonald, Chris, additional, Millar, Andrew, additional, Tai, Cheh, additional, Mitchell, Stephen, additional, Metcalf, Jane, additional, Shaukat, Syed, additional, Ninkovic, Mary, additional, Shmueli, Udi, additional, Davis, Andrew, additional, Naqvi, Asifabbas, additional, Lee, Tom JW., additional, Ryder, Stephen, additional, Collier, Jane, additional, Klass, Howard, additional, Cramp, Matthew E., additional, Sharer, Nichols, additional, Aspinall, Richard, additional, Ghosh, Deb, additional, Douds, Andrew C., additional, Booth, Jonathan, additional, Williams, Earl, additional, Hussaini, Hyder, additional, Christie, John, additional, Mann, Steven, additional, Thorburn, Douglas, additional, Marshall, Aileen, additional, Patanwala, Imran, additional, Ala, Aftab, additional, Maltby, Julia, additional, Matthew, Ray, additional, Corbett, Chris, additional, Vyas, Sam, additional, Singhal, Saket, additional, Gleeson, Dermot, additional, Misra, Sharat, additional, Butterworth, Jeff, additional, George, Keith, additional, Harding, Tim, additional, Douglass, Andrew, additional, Mitchison, Harriet, additional, Panter, Simon, additional, Shearman, Jeremy, additional, Bray, Gary, additional, Roberts, Michael, additional, Butcher, Graham, additional, Forton, Daniel, additional, Mahmood, Zahid, additional, Cowan, Matthew, additional, Das, Debashis, additional, Ch'ng, Chin Lye, additional, Rahman, Mesbah, additional, Whatley, Gregory C.A., additional, Wesley, Emma, additional, Mandal, Aditya, additional, Jain, Sanjiv, additional, Pereira, Stephen P., additional, Wright, Mark, additional, Trivedi, Palak, additional, Gordon, Fiona H., additional, Unitt, Esther, additional, Palejwala, Altaf, additional, Austin, Andrew, additional, Vemala, Vishwaraj, additional, Grant, Allister, additional, Higham, Andrew D., additional, Brind, Alison, additional, Mathew, Ray, additional, Cox, Mark, additional, Ramakrishnan, Subramaniam, additional, King, Alistair, additional, Whalley, Simon, additional, Fraser, Jocelyn, additional, Thomson, S.J., additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Kia, Richard, additional, Gee, Ian, additional, Keld, Richard, additional, Ransford, Rupert, additional, Gotto, James, additional, and Millson, Charles, additional

Published
2021
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27. Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

Author

Kosmicki, Jack A., Horowitz, Julie E., Banerjee, Nilanjana, Lanche, Rouel, Marcketta, Anthony, Maxwell, Evan, Bai, Xiaodong, Sun, Dylan, Backman, Joshua D., Sharma, Deepika, Kury, Fabricio S.P., Kang, Hyun M., O’Dushlaine, Colm, Yadav, Ashish, Mansfield, Adam J., Li, Alexander H., Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Locke, Adam E., Khalid, Shareef, O’Keeffe, Sean, Mbatchou, Joelle, Chazara, Olympe, Huang, Yunfeng, Kvikstad, Erika, O’Neill, Amanda, Nioi, Paul, Parker, Meg M., Petrovski, Slavé, Runz, Heiko, Szustakowski, Joseph D., Wang, Quanli, Wong, Emily, Cordova-Palomera, Aldo, Smith, Erin N., Szalma, Sandor, Zheng, Xiuwen, Esmaeeli, Sahar, Davis, Justin W., Lai, Yi-Pin, Chen, Xing, Justice, Anne E., Leader, Joseph B., Mirshahi, Tooraj, Carey, David J., Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Rader, Daniel J., Povysil, Gundula, Goldstein, David B., Kiryluk, Krzysztof, Pairo-Castineira, Erola, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Meynert, Alison, Kousathanas, Athanasios, Moutsianas, Loukas, Tenesa, Albert, Caulfield, Mark, Scott, Richard, Wilson, James F., Baillie, J. Kenneth, Butler-Laporte, Guillaume, Nakanishi, Tomoko, Lathrop, Mark, Richards, J. Brent, Jones, Marcus, Balasubramanian, Suganthi, Salerno, William, Shuldiner, Alan R., Marchini, Jonathan, Overton, John D., Habegger, Lukas, Cantor, Michael N., Reid, Jeffrey G., Baras, Aris, Abecasis, Goncalo R., and Ferreira, Manuel A.R.

Published
2021
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28. Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index

Author

Gurtan, Allan, primary, Dominy, John, additional, Khalid, Shareef, additional, Vong, Linh, additional, Caplan, Shari, additional, Currie, Treeve, additional, Richards, Sean, additional, Lamarche, Lindsey, additional, Denning, Daniel, additional, Shpektor, Diana, additional, Gurinovich, Anastasia, additional, Rasheed, Asif, additional, Hameed, Shahid, additional, Saeed, Subhan, additional, Saleem, Imran, additional, Jalal, Anjum, additional, Abbas, Shahid, additional, Sultan, Riffat, additional, Rasheed, Syed Zahed, additional, Memon, Fazal-ur-Rehman, additional, Shah, Nabi, additional, Ishaq, Mohammad, additional, Khera, Amit, additional, Danesh, John, additional, Kathiresan, Sekar, additional, Frossard, Philippe, additional, and Saleheen, Danish, additional

Published
2021
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29. Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study

Author

Manderstedt, Eric, primary, Halldén, Christer, additional, Lind-Halldén, Christina, additional, Elf, Johan, additional, Svensson, Peter J., additional, Engström, Gunnar, additional, Melander, Olle, additional, Baras, Aris, additional, Lotta, Luca A, additional, Zöller, Bengt, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Karalis, Katia, additional, Siminovitch, Katherine, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Sotiropoulos Padilla, Maria, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Blumenfeld, Andrew, additional, Boutkov, Boris, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Krasheninina, Olga, additional, Lanche, Rouel, additional, Mansfield, Adam J., additional, Maxwell, Evan K., additional, Nafde, Mrunali, additional, O’Keeffe, Sean, additional, Orelus, Max, additional, Panea, Razvan, additional, Polanco, Tommy, additional, Rasool, Ayesha, additional, Salerno, William, additional, Staples, Jeffrey C., additional, Verweij, Niek, additional, Nielsen, Jonas, additional, De, Tanima, additional, Jones, Marcus B., additional, Mighty, Jason, additional, LeBlanc, Michelle G., additional, and Mitnaul, Lyndon J., additional

Published
2021
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30. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Author

Cordell, Heather J., primary, Fryett, James J., additional, Ueno, Kazuko, additional, Darlay, Rebecca, additional, Aiba, Yoshihiro, additional, Hitomi, Yuki, additional, Kawashima, Minae, additional, Nishida, Nao, additional, Khor, Seik-Soon, additional, Gervais, Olivier, additional, Kawai, Yosuke, additional, Nagasaki, Masao, additional, Tokunaga, Katsushi, additional, Tang, Ruqi, additional, Shi, Yongyong, additional, Li, Zhiqiang, additional, Juran, Brian D., additional, Atkinson, Elizabeth J., additional, Gerussi, Alessio, additional, Carbone, Marco, additional, Asselta, Rosanna, additional, Cheung, Angela, additional, de Andrade, Mariza, additional, Baras, Aris, additional, Horowitz, Julie, additional, Ferreira, Manuel A.R., additional, Sun, Dylan, additional, Jones, David E., additional, Flack, Steven, additional, Spicer, Ann, additional, Mulcahy, Victoria L., additional, Byan, Jinyoung, additional, Han, Younghun, additional, Sandford, Richard N., additional, Lazaridis, Konstantinos N., additional, Amos, Christopher I., additional, Hirschfield, Gideon M., additional, Seldin, Michael F., additional, Invernizzi, Pietro, additional, Siminovitch, Katherine A., additional, Ma, Xiong, additional, Nakamura, Minoru, additional, Mells, George F., additional, Mason, Andrew, additional, Vincent, Catherine, additional, Xie, Gang, additional, Zhang, Jinyi, additional, Affronti, Andrea, additional, Almasio, Piero L., additional, Alvaro, Domenico, additional, Andreone, Pietro, additional, Andriulli, Angelo, additional, Azzaroli, Francesco, additional, Battezzati, Pier Maria, additional, Benedetti, Antonio, additional, Bragazzi, MariaConsiglia, additional, Brunetto, Maurizia, additional, Bruno, Savino, additional, Calvaruso, Vincenza, additional, Cardinale, Vincenzo, additional, Casella, Giovanni, additional, Cazzagon, Nora, additional, Ciaccio, Antonio, additional, Coco, Barbara, additional, Colli, Agostino, additional, Colloredo, Guido, additional, Colombo, Massimo, additional, Colombo, Silvia, additional, Cristoferi, Laura, additional, Cursaro, Carmela, additional, Crocè, Lory Saveria, additional, Crosignani, Andrea, additional, D’Amato, Daphne, additional, Donato, Francesca, additional, Elia, Gianfranco, additional, Fabris, Luca, additional, Fagiuoli, Stefano, additional, Ferrari, Carlo, additional, Floreani, Annarosa, additional, Galli, Andrea, additional, Giannini, Edoardo, additional, Grattagliano, Ignazio, additional, Lampertico, Pietro, additional, Lleo, Ana, additional, Malinverno, Federica, additional, Mancuso, Clara, additional, Marra, Fabio, additional, Marzioni, Marco, additional, Massironi, Sara, additional, Mattalia, Alberto, additional, Miele, Luca, additional, Milani, Chiara, additional, Morini, Lorenzo, additional, Morisco, Filomena, additional, Muratori, Luigi, additional, Muratori, Paolo, additional, Niro, Grazia A., additional, O’Donnell, Sarah, additional, Picciotto, Antonio, additional, Portincasa, Piero, additional, Rigamonti, Cristina, additional, Ronca, Vincenzo, additional, Rosina, Floriano, additional, Spinzi, Giancarlo, additional, Strazzabosco, Mario, additional, Tarocchi, Mirko, additional, Tiribelli, Claudio, additional, Toniutto, Pierluigi, additional, Valenti, Luca, additional, Vinci, Maria, additional, Zuin, Massimo, additional, Nakamura, Hitomi, additional, Abiru, Seigo, additional, Nagaoka, Shinya, additional, Komori, Atsumasa, additional, Yatsuhashi, Hiroshi, additional, Ishibashi, Hiromi, additional, Ito, Masahiro, additional, Migita, Kiyoshi, additional, Ohira, Hiromasa, additional, Katsushima, Shinji, additional, Naganuma, Atsushi, additional, Sugi, Kazuhiro, additional, Komatsu, Tatsuji, additional, Mannami, Tomohiko, additional, Matsushita, Kouki, additional, Yoshizawa, Kaname, additional, Makita, Fujio, additional, Nikami, Toshiki, additional, Nishimura, Hideo, additional, Kouno, Hiroshi, additional, Kouno, Hirotaka, additional, Ota, Hajime, additional, Komura, Takuya, additional, Nakamura, Yoko, additional, Shimada, Masaaki, additional, Hirashima, Noboru, additional, Komeda, Toshiki, additional, Ario, Keisuke, additional, Nakamuta, Makoto, additional, Yamashita, Tsutomu, additional, Furuta, Kiyoshi, additional, Kikuchi, Masahiro, additional, Naeshiro, Noriaki, additional, Takahashi, Hironao, additional, Mano, Yutaka, additional, Tsunematsu, Seiji, additional, Yabuuchi, Iwao, additional, Shimada, Yusuke, additional, Yamauchi, Kazuhiko, additional, Sugimoto, Rie, additional, Sakai, Hironori, additional, Mita, Eiji, additional, Koda, Masaharu, additional, Tsuruta, Satoru, additional, Kamitsukasa, Hiroshi, additional, Sato, Takeaki, additional, Masaki, Naohiko, additional, Kobata, Tatsuro, additional, Fukushima, Nobuyoshi, additional, Ohara, Yukio, additional, Muro, Toyokichi, additional, Takesaki, Eiichi, additional, Takaki, Hitoshi, additional, Yamamoto, Tetsuo, additional, Kato, Michio, additional, Nagaoki, Yuko, additional, Hayashi, Shigeki, additional, Ishida, Jinya, additional, Watanabe, Yukio, additional, Kobayashi, Masakazu, additional, Koga, Michiaki, additional, Saoshiro, Takeo, additional, Yagura, Michiyasu, additional, Hirata, Keisuke, additional, Tanaka, Atsushu, additional, Takikawa, Hajime, additional, Zeniya, Mikio, additional, Abe, Masanori, additional, Onji, Morikazu, additional, Kaneko, Shuichi, additional, Honda, Masao, additional, Arai, Kuniaki, additional, Arinaga-Hino, Teruko, additional, Hashimoto, Etsuko, additional, Taniai, Makiko, additional, Umemura, Takeji, additional, Joshita, Satoru, additional, Nakao, Kazuhiko, additional, Ichikawa, Tatsuki, additional, Shibata, Hidetaka, additional, Yamagiwa, Satoshi, additional, Seike, Masataka, additional, Honda, Koichi, additional, Sakisaka, Shotaro, additional, Takeyama, Yasuaki, additional, Harada, Masaru, additional, Senju, Michio, additional, Yokosuka, Osamu, additional, Kanda, Tatsuo, additional, Ueno, Yoshiyuki, additional, Kikuchi, Kentaro, additional, Ebinuma, Hirotoshi, additional, Himoto, Takashi, additional, Yasunami, Michio, additional, Murata, Kazumoto, additional, Mizokami, Masashi, additional, Kawata, Kazuhito, additional, Shimoda, Shinji, additional, Miyake, Yasuhiro, additional, Takaki, Akinobu, additional, Yamamoto, Kazuhide, additional, Hirano, Katsuji, additional, Ichida, Takafumi, additional, Ido, Akio, additional, Tsubouchi, Hirohito, additional, Chayama, Kazuaki, additional, Harada, Kenichi, additional, Nakanuma, Yasuni, additional, Maehara, Yoshihiko, additional, Taketomi, Akinobu, additional, Shirabe, Ken, additional, Soejima, Yuji, additional, Mori, Akira, additional, Yagi, Shintaro, additional, Uemoto, Shinji, additional, H, Egawa, additional, Tanaka, Tomohiro, additional, Yamashiki, Noriyo, additional, Tamura, Sumito, additional, Sugawara, Yasuhiro, additional, Kokudo, Norihiro, additional, Chalasani, Naga, additional, Luketic, Vel, additional, Odin, Joseph, additional, Chopra, Kapil, additional, Abecasis, Goncalo, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, Mitnaul, Lyndon J., additional, Sturgess, Richard, additional, Healey, Christopher, additional, Yeoman, Andrew, additional, Gunasekera, Anton VJ., additional, Kooner, Paul, additional, Kapur, Kapil, additional, Sathyanarayana, V., additional, Kallis, Yiannis, additional, Subhani, Javaid, additional, Harvey, Rory, additional, McCorry, Roger, additional, Rooney, Paul, additional, Ramanaden, David, additional, Evans, Richard, additional, Mathialahan, Thiriloganathan, additional, Gasem, Jaber, additional, Shorrock, Christopher, additional, Bhalme, Mahesh, additional, Southern, Paul, additional, Tibble, Jeremy A., additional, Gorard, David A., additional, Jones, Susan, additional, Mells, George, additional, Mulcahy, Victoria, additional, Srivastava, Brijesh, additional, Foxton, Matthew R., additional, Collins, Carole E., additional, Elphick, David, additional, Karmo, Mazn, additional, Porras-Perez, Francisco, additional, Mendall, Michael, additional, Yapp, Tom, additional, Patel, Minesh, additional, Ede, Roland, additional, Sayer, Joanne, additional, Jupp, James, additional, Fisher, Neil, additional, Carter, Martyn J., additional, Koss, Konrad, additional, Shah, Jayshri, additional, Piotrowicz, Andrzej, additional, Scott, Glyn, additional, Grimley, Charles, additional, Gooding, Ian R., additional, Williams, Simon, additional, Tidbury, Judith, additional, Lim, Guan, additional, Cheent, Kuldeep, additional, Levi, Sass, additional, Mansour, Dina, additional, Beckley, Matilda, additional, Hollywood, Coral, additional, Wong, Terry, additional, Marley, Richard, additional, Ramage, John, additional, Gordon, Harriet M., additional, Ridpath, Jo, additional, Ngatchu, Theodore, additional, Bob Grover, Vijay Paul, additional, Shidrawi, Ray G., additional, Abouda, George, additional, Corless, L., additional, Narain, Mark, additional, Rees, Ian, additional, Brown, Ashley, additional, Taylor-Robinson, Simon, additional, Wilkins, Joy, additional, Grellier, 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additional, Fraser, Jocelyn, additional, Thomson, S.J., additional, Bell, Andrew, additional, Wong, Voi Shim, additional, Kia, Richard, additional, Gee, Ian, additional, Keld, Richard, additional, Ransford, Rupert, additional, Gotto, James, additional, and Millson, Charles, additional

Published
2021
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31. MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Author

Surakka, Ida, Fritsche, Lars, Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben Michael, Nielsen, Jonas B., Gabrielsen, Maiken Elvestad, Skogholt, Anne Heidi, Wolford, Brooke N., Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn Olav, Styrkarsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel F., Stefansson, Kari, Baras, Aris, Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Eom, Gisu, Habegger, Lukas, Hahn, Young, Hawes, Alicia, Jones, Marcus B., Khalid, Shareef, Lotta, Luca A., Maxwell, Evan K., Mitnaul, Lyndon J., Overton, John D., Reid, Jeffrey G., Ferreira, Manuel Allen Revez, Salerno, William, Sharma, Deepika, Shuldiner, Alan R., Staples, Jeffrey C., Yadav, Ashish, Abecasis, Goncalo R., Hveem, Kristian, and Willer, Cristen J.

Subjects
0301 basic medicine, Oncology, Male, Osteoporosis, Iceland, General Physics and Astronomy, Genome-wide association study, Genome-wide association studies, Cohort Studies, Fractures, Bone, 0302 clinical medicine, Gene Frequency, Bone Density, lcsh:Science, Bone mineral, Aged, 80 and over, Extracellular Matrix Proteins, Multidisciplinary, Middle Aged, Cohort, Female, musculoskeletal diseases, Adult, medicine.medical_specialty, Science, Predictive medicine, 030209 endocrinology & metabolism, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, Genetic association, Genetic association study, Aged, Glycoproteins, business.industry, Genome, Human, Computational Biology, General Chemistry, medicine.disease, Phosphoproteins, Computational biology and bioinformatics, Minor allele frequency, 030104 developmental biology, MEPE, lcsh:Q, business, Imputation (genetics)
Abstract

A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the discovery cohort for loss-of-function (LoF) mutations by sequencing a subset of the Nord-Trøndelag Health Study, followed by imputation in the remaining sample (N = 19,705), and identified ten known BMD loci. However, one previously unreported variant, LoF mutation in MEPE, p.(Lys70IlefsTer26, minor allele frequency [MAF] = 0.8%), was associated with decreased ultradistal forearm BMD (P-value = 2.1 × 10−18), and increased osteoporosis (P-value = 4.2 × 10−5) and fracture risk (P-value = 1.6 × 10−5). The MEPE LoF association with BMD and fractures was further evaluated in 279,435 UK (MAF = 0.05%, heel bone estimated BMD P-value = 1.2 × 10−16, any fracture P-value = 0.05) and 375,984 Icelandic samples (MAF = 0.03%, arm BMD P-value = 0.12, forearm fracture P-value = 0.005). Screening for the MEPE LoF mutations before adulthood could potentially prevent osteoporosis and fractures due to the lifelong effect on BMD observed in the study. A key implication for precision medicine is that high-impact functional variants missing from the publicly available cosmopolitan panels could be clinically more relevant than polygenic risk scores., Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank.

Published
2020

32. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Author

Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjornsson, Gardar, Fatemifar, Ghazaleh, Hedman, Asa K, Wilk, Jemma B, Morley, Michael P, Chaffin, Mark D, Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G, Arnlov, Johan, Backman, Joshua D, Biggs, Mary L, Bloom, Heather L, Brandimarto, Jeffrey, Brown, Michael R, Buckbinder, Leonard, Carey, David J, Chasman, Daniel I, Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P, Delgado, Graciela E, Denaxas, Spiros, Doney, Alexander S, Doerr, Marcus, Dudley, Samuel C, Dunn, Michael E, Engstrom, Gunnar, Esko, Tonu, Felix, Stephan B, Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S, Gross, Stefan, Gudbjartsson, Daniel F, Gutmann, Rebecca, Haggerty, Christopher M, van der Harst, Pim, Hyde, Craig L, Ingelsson, Erik, Jukema, J Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E, Kober, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M, London, Barry, Lotta, Luca A, Lovering, Ruth C, Luan, Jian'an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B, Maerz, Winfried, Melander, Olle, Mordi, Ify R, Morgan, Thomas, Morris, Andrew D, Morris, Andrew P, Morrison, Alanna C, Nagle, Michael W, Nelson, Christopher P, Niessner, Alexander, Niiranen, Teemu, O'Donoghue, Michelle L, Owens, Anjali T, Palmer, Colin NA, Parry, Helen M, Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M, Rice, Kenneth M, Ridker, Paul M, Romaine, Simon PR, Rotter, Jerome I, Salo, Perttu, Salomaa, Veikko, van Setten, Jessica, Shalaby, Alaa A, Smelser, Diane T, Smith, Nicholas L, Stender, Steen, Stott, David J, Svensson, Per, Tammesoo, Mari-Liis, Taylor, Kent D, Teder-Laving, Maris, Teumer, Alexander, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G, Veluchamy, Abirami, Voelker, Uwe, Voors, Adriaan A, Wang, Xiaosong, Wareham, Nicholas J, Waterworth, Dawn, Weeke, Peter E, Weiss, Raul, Wiggins, Kerri L, Xing, Heming, Yerges-Armstrong, Laura M, Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, Samani, Nilesh J, McMurray, John JV, Yang, Jian, Visscher, Peter M, Newton-Cheh, Christopher, Malarstig, Anders, Holm, Hilma, Lubitz, Steven A, Sattar, Naveed, Holmes, Michael V, Cappola, Thomas P, Asselbergs, Folkert W, Hingorani, Aroon D, Kuchenbaecker, Karoline, Ellinor, Patrick T, Lang, Chim C, Stefansson, Kari, Smith, J Gustav, Vasan, Ramachandran S, Swerdlow, Daniel I, Lumbers, R Thomas, Abecasis, Goncalo, Backman, Joshua, Bai, Xiaodong, Balasubramanian, Suganthi, Banerjee, Nilanjana, Baras, Aris, Barnard, Leland, Beechert, Christina, Blumenfeld, Andrew, Cantor, Michael, Chai, Yating, Coppola, Giovanni, Damask, Amy, Dewey, Frederick, Economides, Aris, Eom, Gisu, Forsythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Gurski, Lauren, Guzzardo, Paloma M, Habegger, Lukas, Hahn, Young, Hawes, Alicia, van Hout, Cristopher, Jones, Marcus B, Khalid, Shareef, Lattari, Michael, Li, Alexander, Lin, Nan, Liu, Daren, Lopez, Alexander, Manoochehri, Kia, Marchini, Jonathan, Marcketta, Anthony, Maxwell, Evan K, McCarthy, Shane, Mitnaul, Lyndon J, O'Dushlaine, Colm, Overton, John D, Padilla, Maria Sotiropoulos, Paulding, Charles, Penn, John, Pradhan, Manasi, Reid, Jeffrey G, Schleicher, Thomas D, Schurmann, Claudia, Shuldiner, Alan, Staples, Jeffrey C, Sun, Dylan, Toledo, Karina, Ulloa, Ricardo H, Widom, Louis, Wolf, Sarah E, Yadav, Ashish, Ye, Bin, Ctr, Regeneron Genetics, Shah, Sonia [0000-0001-5860-4526], Henry, Albert [0000-0001-7422-2288], Roselli, Carolina [0000-0001-5267-6756], Lin, Honghuang [0000-0003-3043-3942], Chaffin, Mark D. [0000-0002-1234-5562], Helgadottir, Anna [0000-0002-1806-2467], Verweij, Niek [0000-0002-4303-7685], Almgren, Peter [0000-0002-0473-0241], Chen, Xu [0000-0002-7299-3238], Ghanbari, Mohsen [0000-0002-9476-7143], Giedraitis, Vilmantas [0000-0003-3423-2021], Gross, Stefan [0000-0003-4121-7161], Guðbjartsson, Daníel F. [0000-0002-5222-9857], Hyde, Craig L. [0000-0002-6939-287X], Ingelsson, Erik [0000-0003-2256-6972], Jukema, J. Wouter [0000-0002-3246-8359], Kleber, Marcus E. [0000-0003-0663-7275], Koekemoer, Andrea [0000-0001-8222-3547], Langenberg, Claudia [0000-0002-5017-7344], Lindgren, Cecilia M. [0000-0002-4903-9374], Lovering, Ruth C. [0000-0002-9791-0064], Luan, Jian’an [0000-0003-3137-6337], Magnusson, Patrik [0000-0002-7315-7899], Mahajan, Anubha [0000-0001-5585-3420], Mordi, Ify R. [0000-0002-2686-729X], Morris, Andrew D. [0000-0002-1766-0473], Nagle, Michael W. [0000-0002-4677-7582], Nelson, Christopher P. [0000-0001-8025-2897], Palmer, Colin N. A. [0000-0002-6415-6560], Rice, Kenneth M. [0000-0002-3071-7278], Rotter, Jerome I. [0000-0001-7191-1723], Salomaa, Veikko [0000-0001-7563-5324], van Setten, Jessica [0000-0002-4934-7510], Svensson, Per [0000-0003-0372-6272], Taylor, Kent D. [0000-0002-2756-4370], Teder-Laving, Maris [0000-0002-5872-1850], Teumer, Alexander [0000-0002-8309-094X], Tyl, Benoit [0000-0001-5297-8412], Uitterlinden, Andre G. [0000-0002-7276-3387], Völker, Uwe [0000-0002-5689-3448], Wiggins, Kerri L. [0000-0003-2749-1279], Hemingway, Harry [0000-0003-2279-0624], Yang, Jian [0000-0003-2001-2474], Visscher, Peter M. [0000-0002-2143-8760], Lubitz, Steven A. [0000-0002-9599-4866], Sattar, Naveed [0000-0002-1604-2593], Cappola, Thomas P. [0000-0002-9630-7204], Asselbergs, Folkert W. [0000-0002-1692-8669], Kuchenbaecker, Karoline [0000-0001-9726-603X], Ellinor, Patrick T. [0000-0002-2067-0533], Vasan, Ramachandran S. [0000-0001-7357-5970], Lumbers, R. Thomas [0000-0002-9077-4741], Apollo - University of Cambridge Repository, Chaffin, Mark D [0000-0002-1234-5562], Guðbjartsson, Daníel F [0000-0002-5222-9857], Hyde, Craig L [0000-0002-6939-287X], Jukema, J Wouter [0000-0002-3246-8359], Kleber, Marcus E [0000-0003-0663-7275], Lindgren, Cecilia M [0000-0002-4903-9374], Lovering, Ruth C [0000-0002-9791-0064], Luan, Jian'an [0000-0003-3137-6337], Mordi, Ify R [0000-0002-2686-729X], Morris, Andrew D [0000-0002-1766-0473], Nagle, Michael W [0000-0002-4677-7582], Nelson, Christopher P [0000-0001-8025-2897], Palmer, Colin NA [0000-0002-6415-6560], Rice, Kenneth M [0000-0002-3071-7278], Rotter, Jerome I [0000-0001-7191-1723], Taylor, Kent D [0000-0002-2756-4370], Uitterlinden, Andre G [0000-0002-7276-3387], Wiggins, Kerri L [0000-0003-2749-1279], Visscher, Peter M [0000-0002-2143-8760], Lubitz, Steven A [0000-0002-9599-4866], Cappola, Thomas P [0000-0002-9630-7204], Asselbergs, Folkert W [0000-0002-1692-8669], Ellinor, Patrick T [0000-0002-2067-0533], Vasan, Ramachandran S [0000-0001-7357-5970], Lumbers, R Thomas [0000-0002-9077-4741], Palmer, Colin N A [0000-0002-6415-6560], Cardiovascular Centre (CVC), University of Queensland [Brisbane], University College of London [London] (UCL), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], University Medical Center Groningen [Groningen] (UMCG), Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Framingham Heart Study, National Heart, Lung, and Blood Institute [Bethesda] (NHLBI)-Boston University [Boston] (BU), deCODE genetics [Reykjavik], Karolinska Institutet [Stockholm], Pfizer, University of Pennsylvania [Philadelphia], University of Groningen [Groningen], Imperial College London, Lund University [Lund], Herlev and Gentofte Hospital, Massachusetts General Hospital [Boston], Department of Neurobiology, Care Sciences and Society [Stockholm, Sweden] (Division of Family Medicine), Dalarna University, Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, Department of Biostatistics, University of Washington [Seattle], Emory University School of Medicine, Emory University [Atlanta, GA], The University of Texas Medical School at Houston, Department of Molecular and Functional Genomics, Geisinger, Danville, PA, Brigham and Women's Hospital [Boston], Harvard Medical School [Boston] (HMS), Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY, Novartis Institutes for BioMedical Research (NIBR), University of Liverpool, Universität Heidelberg [Heidelberg], Medizinische Fakultät Mannheim, The Alan Turing Institute, Ninewells Hospital and Medical School [Dundee], Universität Greifswald - University of Greifswald, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), University of Minnesota System, Regeneron Pharmaceuticals [Tarrytown], Department of Clinical Sciences, Cardiovascular Epidemiology, Skane University Hospital [Lund], Institute of Genomics [Tartu, Estonia], University of Tartu, Robertson Centre for Biostatistics, University of Glasgow, Department of Epidemiology, Erasmus University Medical Center, Rotterdam, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Uppsala University, Brigham & Women’s Hospital [Boston] (BWH), University of Maryland School of Medicine, University of Maryland System, School of Science and Engineering (Reykjavik University), Carver College of Medicine, University of Iowa, Geisinger Health System [Danville, PA, USA], Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht, Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Stanford Cardiovascular Institute, Uppsala Universitet [Uppsala], Leiden University Medical Center (LUMC), Einthoven Laboratory for Experimental Vascular Medicine (ELEVM - LEIDEN), Department of Public Health and Primary Care, University of Cambridge [UK] (CAM), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Glenfield Hospital, University Hospitals Leicester, MRC Epidemiology Unit, University of Cambridge [UK] (CAM)-Institute of Metabolic Science, Big Data Institute, University of Oxford [Oxford], University of Iowa [Iowa City], The Wellcome Trust Centre for Human Genetics [Oxford], Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim, Medical University Graz, Skane University Hospital [Malmo], Vanderbilt University School of Medicine [Nashville], University of Edinburgh, Université médicale de Vienne, Autriche, National Institute for Health and Welfare [Helsinki], University of Turku, Birmingham Women's and Children's NHS Foundation Trust, Kaiser Permanente, Harbor UCLA Medical Center [Torrance, Ca.], Los Angeles Biomedical Research Institute (LA BioMed), University Medical Center [Utrecht], University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), Seattle Epidemiologic Research and Information Center [Seattle], Institute of Cardiovascular and Medical Sciences [Glasgow], University of Glasgow, Department of Cardiology, Södersjukhuset, Stockholm, Estonian Genome and Medicine, Landspitali National University Hospital of Iceland, University of Iceland [Reykjavik], Aalborg University [Denmark] (AAU), Institut de Recherches SERVIER (IRS), Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt-Universität Greifswald, GlaxoSmithKline, Glaxo Smith Kline, Northeastern Ohio Medical University (NEOMED), Centre d'investigation clinique plurithématique Pierre Drouin [Nancy] (CIC-P), Centre d'investigation clinique [Nancy] (CIC), Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Cardiovascular and Renal Clinical Trialists [Vandoeuvre-les-Nancy] (INI-CRCT), Institut Lorrain du Coeur et des Vaisseaux Louis Mathieu [Nancy], French-Clinical Research Infrastructure Network - F-CRIN [Paris] (Cardiovascular & Renal Clinical Trialists - CRCT ), MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke's Hospital, British Heart Foundation Glasgow Cardiovascular Research Centre (BHF GCRC), University of Glasgow-NHS Greater Glasgow and Clyde, Department of Cardiovascular Sciences [Leicester], University of Leicester, Queensland Brain Institute, Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, University of Dundee, National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Atherosclerosis Risk in Communities Study (ARIC)The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts N01-HC-55015, N01-HC- 55016, N01-HC-55018, N01-HC-55019, N01-HC-55020, N01-HC55021, N01-HC-55022, R01HL087641, R01HL59367, R01HL086694 and RC2 HL102419, National Human Genome Research Institute contract U01HG004402, and National Institutes of Health contract HHSN268200625226C. The authors thank the staff and participants of the ARIC study for their important contributions. Infrastructure was partly supported by Grant Number UL1RR025005, a component of the National Institutes of Health and NIH Roadmap for Medical Research. A systems BIOlogy Study to TAilored Treatment in Chronic Heart Failure (BIOSTAT- CHF)This project was funded by a grant from the European Commission (FP7‐242209‐ BIOSTAT‐CHF, EudraCT 2010–020808–29). Cardiovascular Health Study (CHS) This CHS research was supported by NHLBI contracts HHSN268201200036C, HHSN268200800007C, HHSN268201800001C, HHSN268200960009C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086, and NHLBI grants U01HL080295, R01HL087652, R01HL105756, R01HL103612, R01HL120393, and U01HL130114 with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided through R01AG023629 from the National Institute on Aging (NIA). A full list of principal CHS investigators and institutions can be found at CHS-NHLBI.org. The provision of genotyping data was supported in part by the National Center for Advancing Translational Sciences, CTSI grant UL1TR001881, and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) grant DK063491 to the Southern California Diabetes Endocrinology Research Center. deCODE Heart Failure Study (deCODE) We at deCODE thank the women and men of Iceland that have participated in our studies and our colleagues that contributed to data collection and processing. DiscovEHR We acknowledge and thank all participants in Geisinger’s MyCode Community Health Initiative for their support and permission to use their health and genomic information in the DiscovEHR collaboration. This work was supported by the Regeneron Genetics Center and Geisinger. Estonian Genome Center at the University of Tartu (EGCUT) This study was supported by Estonian Research Council Grant IUT20-60, EU, H2020 grant 692145, European Union through the European Regional Development Fund (Project No. 2014-2020.4.01.15-0012) GENTRANSMED. Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study (EPHESUS) The EPHESUS was supported by Pfizer, Inc. The European Prospective Investigation of Cancer, Norfolk study (EPIC-Norfolk) The EPIC-Norfolk Study is supported by programme grants from the Medical Research Council UK (G1000143) and Cancer Research UK (C864/A14136) and with additional support from the European Union, Stroke Association, British Heart Foundation, Research into Ageing, Department of Health, The Wellcome Trust and the Food Standards Agency. NJW and CL also acknowledge support from the Medical Research Council, UK (MC_UU_12015/1, MC_PC_13048). We thank all EPIC participants and staff for their contribution to the study, and thank staff from the Technical, Field Epidemiology and Data Functional Group Teams of the Medical Research Council Epidemiology Unit in Cambridge, UK, for carrying out sample preparation, DNA provision and quality control, genotyping and data handling work. Framingham Heart Study (FHS) This work was conducted using data and resources from the Framingham Heart Study (FHS) of the National Heart Lung and Blood Institute and Boston University School of Medicine. The study was supported by the National Heart, Lung and Blood Institute’s Framingham Heart Study (Contract No. N01-HC-25195 and HHSN268201500001I) and its contract with Affymetrix, Inc for genotyping services (Contract No.N02-HL-6-4278). The work was also supported by R01 HL093328, R01 HL105993, and R01 HL71039 (PI: Ramachandran). FINRISK V.S. has been supported by the Finnish Foundation for Cardiovascular Research. Genetics of Diabetes Audit and Research Tayside Scotland GoDARTS) The Wellcome Trust United Kingdom Type 2 Diabetes Case Control Collection (supporting GoDARTS) was funded by the Wellcome Trust (072960/Z/03/Z, 084726/Z/08/Z, 084727/Z/08/Z, 085475/Z/08/Z, 085475/B/08/Z) and as part of the EU IMI-SUMMIT programme. We acknowledge the support of the Health Informatics Centre, University of Dundee, for managing and supplying the anonymized data and NHS Tayside, the original data owner. The Genetic Risk Assessment of Defibrillator Events (GRADE) NIH-NHLBI R01 HL77398 (Genetic Modulators of Sudden Death). S.L. is supported by NIH grant 1R01HL139731 and American Heart Association 18SFRN34250007. The LUdwigshafen RIsk and Cardiovascular Health (LURIC) study We extend our appreciation to the participants of the LURIC study, without their collaboration, this article would not have been written. We thank the LURIC study team who were either temporarily or permanently involved in patient recruitment as well as sample and data handling, in addition to the laboratory staff at the Ludwigshafen General Hospital and the Universities of Freiburg and Ulm, Germany. LURIC has received funding from the 7th Framework Program (RiskyCAD, grant agreement number 305739 and Atheroremo, grant agreement number 201668) of the European Union. Malmö Diet and Cancer Study (MDCS) J. Gustav Smith was supported by grants from the Swedish Heart-Lung Foundation (2016- 0134 and 2016-0315), the Swedish Research Council (2017-02554), the European Research Council (ERC-STG-2015-679242), the Crafoord Foundation, Skåne University Hospital, the Scania county, governmental funding of clinical research within the Swedish National Health Service, a generous donation from the Knut and Alice Wallenberg foundation to the Wallenberg Center for Molecular Medicine in Lund, and funding from the Swedish Research Council (Linnaeus grant Dnr 349-2006-237, Strategic Research Area Exodiab Dnr 2009-1039) and Swedish Foundation for Strategic Research (Dnr IRC15- 0067) to the Lund University Diabetes Center. The Malmo Diet and Cancer Study was made possible by grants from the Swedish Cancer Society, the Swedish Medical Research Council, the Swedish Dairy Association, and the Malmo city council. Penn Heart Failure Study (PHFS) The study was supported by NIH grants (NIH R01L088577 and NIH R01H105993). Prevention of REnal and Vascular ENd-stage Disease (PREVEND) The Prevention of Renal and Vascular Endstage Disease Study (PREVEND) genetics is supported by the Dutch Kidney Foundation (Grant E033), the EU project grant GENECURE (FP-6 LSHM CT 2006 037697), the National Institutes of Health (grant LM010098), the Netherlands organisation for health research and development (NWO VENI grant 916.761.70), and the Dutch Inter University Cardiology Institute Netherlands (ICIN). Niek Verweij was supported by NWO VENI grant 016.186.125. PROspective Study of Pravastatin in the Elderly at Risk for vascular disease (PROSPER)The PROSPER study was supported by an investigator-initiated grant obtained from Bristol- Myers Squibb. Support for genotyping was provided by the seventh framework program of the European commission (grant 223004) and by the Netherlands Genomics Initiative (Netherlands Consortium for Healthy Aging grant 050-060-810). J.W.J. is an Established Clinical Investigator of the Netherlands Heart Foundation (grant 2001 D 032). Study of Health in Pomerania (SHIP) SHIP is part of the Community Medicine Research net of the University of Greifswald, Germany, which is funded by the Federal Ministry of Education and Research (grants no. 01ZZ9603, 01ZZ0103, and 01ZZ0403), the Ministry of Cultural Affairs as well as the Social Ministry of the Federal State of Mecklenburg-West Pomerania, and the network ‘Greifswald Approach to Individualized Medicine (GANI_MED)’ funded by the Federal Ministry of Education and Research (grant 03IS2061A). Genome-wide data have been supported by the Federal Ministry of Education and Research (grant no. 03ZIK012) and a joint grant from Siemens Healthineers, Erlangen, Germany and the Federal State of Mecklenburg- West Pomerania. The University of Greifswald is a member of the Caché Campus program of the InterSystems GmbH. Stabilization of Plaque using Darapladib-Thrombolysis in Myocardial Infarction 52 (SOLID)SOLID-TIMI 52 was funded by GlaxoSmithKline. TwinGene (TwinGene) TwinGene received funding from the Swedish Research Council (M-2005-1112), GenomEUtwin (EU/QLRT-2001-01254, QLG2-CT-2002-01254), NIH DK U01-066134, The Swedish Foundation for Strategic Research (SSF) and the Heart and Lung foundation no. 20070481. TwinGene is part of the Swedish Twin Registry which is managed by Karolinska Institutet and receives funding through the Swedish Research Council (2017–00641). UK Biobank (UKBiobank) This research has been conducted using the UK Biobank Resource under Application Number 15422. This work was supported in part by grants to R.T.L. from the EU/EFPIA Innovative Medicines Initiative 2 Joint Undertaking BigData@Heart grant no. 116074, MRC Proximity to Discovery Award Scheme, the American Heart Association Institute for Precision Mecidine, Pfizer Ltd, the University College London British Heart Foundation Research Accelerator (AA/18/6/34223), and was supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. A. H. is supported by the British Heart Foundation Cardiovascular Biomedicine PhD studentship. R.T.L is supported by a UK Research and Innovation Rutherford Fellowship and was previously supported by a National Institutes of Health Research Clinical Lectureship. Uppsala Longitudinal Study of Adult Men (ULSAM) J.Ä. is supported by the Swedish Research Council and the Swedish Heart Lung foundation. C.M.L is supported by the Li Ka Shing Foundation, WT-SSI/John Fell funds and by the NIHR Biomedical Research Centre, Oxford, by Widenlife and NIH (5P50HD028138- 27). Women’s Genome Health Study (WGHS) The WGHS is supported by the National Heart, Lung, and Blood Institute (HL043851 and HL080467, HL099355) and the National Cancer Institute (CA047988 and UM1CA182913), with collaborative scientific support and funding for genotyping provided by Amgen., Epidemiology, Internal Medicine, Læknadeild (HÍ), Faculty of Medicine (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, and University of Iceland

Subjects
0301 basic medicine, Dánartíðni, Epidemiology, LOCI, 45/43, General Physics and Astronomy, Muscle Proteins, Genome-wide association study, Disease, Coronary Artery Disease, 030204 cardiovascular system & hematology, Bioinformatics, Genome-wide association studies, DISEASE, Ventricular Function, Left, Coronary artery disease, 0302 clinical medicine, Risk Factors, Atrial Fibrillation, IMPUTATION, Medicine, Blóðrásarsjúkdómar, 692/308/174, lcsh:Science, 2. Zero hunger, RISK, Multidisciplinary, Microfilament Proteins, article, Atrial fibrillation, Mendelian Randomization Analysis, CATALOG, 3. Good health, OBESITY, Erfðarannsóknir, Cardiomyopathies, Medical Genetics, Cyclin-Dependent Kinase Inhibitor p21, Science, 631/208/205/2138, Heart failure, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 631/443/592/2727, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, RESOURCE, Humans, Mortality, METAANALYSIS, Genetic association, Medicinsk genetik, Adaptor Proteins, Signal Transducing, Heart Failure, HYPERTENSION, business.industry, Case-control study, Klinisk medicin, 692/699/75/230, General Chemistry, Cardiovascular genetics, medicine.disease, R1, 030104 developmental biology, Case-Control Studies, lcsh:Q, Morbidity, Clinical Medicine, business, Apoptosis Regulatory Proteins, Carrier Proteins, Genome-Wide Association Study
Abstract

Publisher's version (útgefin grein), Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies., We acknowledge the contribution from the EchoGen Consortium.

Published
2020
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33. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author

Gorski, Mathias, primary, Jung, Bettina, additional, Li, Yong, additional, Matias-Garcia, Pamela R., additional, Wuttke, Matthias, additional, Coassin, Stefan, additional, Thio, Chris H.L., additional, Kleber, Marcus E., additional, Winkler, Thomas W., additional, Wanner, Veronika, additional, Chai, Jin-Fang, additional, Chu, Audrey Y., additional, Cocca, Massimiliano, additional, Feitosa, Mary F., additional, Ghasemi, Sahar, additional, Hoppmann, Anselm, additional, Horn, Katrin, additional, Li, Man, additional, Nutile, Teresa, additional, Scholz, Markus, additional, Sieber, Karsten B., additional, Teumer, Alexander, additional, Tin, Adrienne, additional, Wang, Judy, additional, Tayo, Bamidele O., additional, Ahluwalia, Tarunveer S., additional, Almgren, Peter, additional, Bakker, Stephan J.L., additional, Banas, Bernhard, additional, Bansal, Nisha, additional, Biggs, Mary L., additional, Boerwinkle, Eric, additional, Bottinger, Erwin P., additional, Brenner, Hermann, additional, Carroll, Robert J., additional, Chalmers, John, additional, Chee, Miao-Li, additional, Chee, Miao-Ling, additional, Cheng, Ching-Yu, additional, Coresh, Josef, additional, de Borst, Martin H., additional, Degenhardt, Frauke, additional, Eckardt, Kai-Uwe, additional, Endlich, Karlhans, additional, Franke, Andre, additional, Freitag-Wolf, Sandra, additional, Gampawar, Piyush, additional, Gansevoort, Ron T., additional, Ghanbari, Mohsen, additional, Gieger, Christian, additional, Hamet, Pavel, additional, Ho, Kevin, additional, Hofer, Edith, additional, Holleczek, Bernd, additional, Xian Foo, Valencia Hui, additional, Hutri-Kähönen, Nina, additional, Hwang, Shih-Jen, additional, Ikram, M. Arfan, additional, Josyula, Navya Shilpa, additional, Kähönen, Mika, additional, Khor, Chiea-Chuen, additional, Koenig, Wolfgang, additional, Kramer, Holly, additional, Krämer, Bernhard K., additional, Kühnel, Brigitte, additional, Lange, Leslie A., additional, Lehtimäki, Terho, additional, Lieb, Wolfgang, additional, Loos, Ruth J.F., additional, Lukas, Mary Ann, additional, Lyytikäinen, Leo-Pekka, additional, Meisinger, Christa, additional, Meitinger, Thomas, additional, Melander, Olle, additional, Milaneschi, Yuri, additional, Mishra, Pashupati P., additional, Mononen, Nina, additional, Mychaleckyj, Josyf C., additional, Nadkarni, Girish N., additional, Nauck, Matthias, additional, Nikus, Kjell, additional, Ning, Boting, additional, Nolte, Ilja M., additional, O’Donoghue, Michelle L., additional, Orho-Melander, Marju, additional, Pendergrass, Sarah A., additional, Penninx, Brenda W.J.H., additional, Preuss, Michael H., additional, Psaty, Bruce M., additional, Raffield, Laura M., additional, Raitakari, Olli T., additional, Rettig, Rainer, additional, Rheinberger, Myriam, additional, Rice, Kenneth M., additional, Rosenkranz, Alexander R., additional, Rossing, Peter, additional, Rotter, Jerome I., additional, Sabanayagam, Charumathi, additional, Schmidt, Helena, additional, Schmidt, Reinhold, additional, Schöttker, Ben, additional, Schulz, Christina-Alexandra, additional, Sedaghat, Sanaz, additional, Shaffer, Christian M., additional, Strauch, Konstantin, additional, Szymczak, Silke, additional, Taylor, Kent D., additional, Tremblay, Johanne, additional, Chaker, Layal, additional, van der Harst, Pim, additional, van der Most, Peter J., additional, Verweij, Niek, additional, Völker, Uwe, additional, Waldenberger, Melanie, additional, Wallentin, Lars, additional, Waterworth, Dawn M., additional, White, Harvey D., additional, Wilson, James G., additional, Wong, Tien-Yin, additional, Woodward, Mark, additional, Yang, Qiong, additional, Yasuda, Masayuki, additional, Yerges-Armstrong, Laura M., additional, Zhang, Yan, additional, Snieder, Harold, additional, Wanner, Christoph, additional, Böger, Carsten A., additional, Köttgen, Anna, additional, Kronenberg, Florian, additional, Pattaro, Cristian, additional, Heid, Iris M., additional, Alizadeh, Behrooz Z., additional, Boezen, H. Marike, additional, Franke, Lude, additional, Navis, Gerjan, additional, Rots, Marianne, additional, Swertz, Morris, additional, Wolffenbuttel, Bruce H.R., additional, Wijmenga, Cisca, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca A., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Jones, Marcus B., additional, and Mitnaul, Lyndon J., additional

Published
2021
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34. Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

Author

Kember, Rachel L., primary, Merikangas, Alison K., additional, Verma, Shefali S., additional, Verma, Anurag, additional, Judy, Renae, additional, Damrauer, Scott M., additional, Ritchie, Marylyn D., additional, Rader, Daniel J., additional, Bućan, Maja, additional, Abecasis, Goncalo, additional, Baras, Aris, additional, Cantor, Michael, additional, Coppola, Giovanni, additional, Economides, Aris, additional, Lotta, Luca, additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan, additional, Beechert, Christina, additional, Forsythe, Caitlin, additional, Fuller, Erin D., additional, Gu, Zhenhua, additional, Lattari, Michael, additional, Lopez, Alexander, additional, Schleicher, Thomas D., additional, Padilla, Maria Sotiropoulos, additional, Toledo, Karina, additional, Widom, Louis, additional, Wolf, Sarah E., additional, Pradhan, Manasi, additional, Manoochehri, Kia, additional, Ulloa, Ricardo H., additional, Bai, Xiaodong, additional, Balasubramanian, Suganthi, additional, Barnard, Leland, additional, Blumenfeld, Andrew, additional, Eom, Gisu, additional, Habegger, Lukas, additional, Hahn, Young, additional, Hawes, Alicia, additional, Khalid, Shareef, additional, Maxwell, Evan K., additional, Salerno, William, additional, Staples, Jeffrey C., additional, Yadav, Ashish, additional, Jones, Marcus B., additional, and Mitnaul, Lyndon J., additional

Published
2021
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35. Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

Author

Szustakowski, Joseph D., primary, Balasubramanian, Suganthi, additional, Sasson, Ariella, additional, Khalid, Shareef, additional, Bronson, Paola G., additional, Kvikstad, Erika, additional, Wong, Emily, additional, Liu, Daren, additional, Davis, J. Wade, additional, Haefliger, Carolina, additional, Loomis, A. Katrina, additional, Mikkilineni, Rajesh, additional, Noh, Hyun Ji, additional, Wadhawan, Samir, additional, Bai, Xiaodong, additional, Hawes, Alicia, additional, Krasheninina, Olga, additional, Ulloa, Ricardo, additional, Lopez, Alex, additional, Smith, Erin N., additional, Waring, Jeff, additional, Whelan, Christopher D., additional, Tsai, Ellen A., additional, Overton, John, additional, Salerno, William, additional, Jacob, Howard, additional, Szalma, Sandor, additional, Runz, Heiko, additional, Hinkle, Greg, additional, Nioi, Paul, additional, Petrovski, Slavé, additional, Miller, Melissa R., additional, Baras, Aris, additional, Mitnaul, Lyndon, additional, and Reid, Jeffrey G., additional

Published
2020
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36. Thrombotic risk determined by rare and common SERPINA1variants in a population‐based cohort study

Author

Manderstedt, Eric, Halldén, Christer, Lind‐Halldén, Christina, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Manoochehri, Kia, Overton, John D., Padilla, Maria Sotiropoulos, Pradhan, Manasi, Schleicher, Thomas D., Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Bai, Xiaodong, Balasubramanian, Suganthi, Blumenfeld, Andrew, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mrunali, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Reid, Jeffrey G., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mighty, Jason, and Mitnaul, Lyndon J.

Abstract

Severe alpha‐1‐antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case‐control study.

Published
2022
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38. Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Author

Siminovitch, Katherine A., Hirschfield, Gideon M., Mason, Andrew, Vincent, Catherine, Xie, Gang, Zhang, Jinyi, Tang, Ruqi, Ma, Xiong, Li, Zhiqiang, Shi, Yongyong, Affronti, Andrea, Almasio, Piero L., Alvaro, Domenico, Andreone, Pietro, Andriulli, Angelo, Azzaroli, Francesco, Battezzati, Pier Maria, Benedetti, Antonio, Bragazzi, Maria Consiglia, Brunetto, Maurizia, Bruno, Savino, Calvaruso, Vincenza, Cardinale, Vincenzo, Casella, Giovanni, Cazzagon, Nora, Ciaccio, Antonio, Coco, Barbara, Colli, Agostino, Colloredo, Guido, Colombo, Massimo, Colombo, Silvia, Cristoferi, Laura, Cursaro, Carmela, Crocè, Lory Saveria, Crosignani, Andrea, D’Amato, Daphne, Donato, Francesca, Elia, Gianfranco, Fabris, Luca, Fagiuoli, Stefano, Ferrari, Carlo, Floreani, Annarosa, Galli, Andrea, Giannini, Edoardo, Grattagliano, Ignazio, Lampertico, Pietro, Lleo, Ana, Malinverno, Federica, Mancuso, Clara, Marra, Fabio, Marzioni, Marco, Massironi, Sara, Mattalia, Alberto, Miele, Luca, Milani, Chiara, Morini, Lorenzo, Morisco, Filomena, Muratori, Luigi, Muratori, Paolo, Niro, Grazia A., O’Donnell, Sarah, Picciotto, Antonio, Portincasa, Piero, Rigamonti, Cristina, Ronca, Vincenzo, Rosina, Floriano, Spinzi, Giancarlo, Strazzabosco, Mario, Tarocchi, Mirko, Tiribelli, Claudio, Toniutto, Pierluigi, Valenti, Luca, Vinci, Maria, Zuin, Massimo, Nakamura, Hitomi, Abiru, Seigo, Nagaoka, Shinya, Komori, Atsumasa, Yatsuhashi, Hiroshi, Ishibashi, Hiromi, Ito, Masahiro, Migita, Kiyoshi, Ohira, Hiromasa, Katsushima, Shinji, Naganuma, Atsushi, Sugi, Kazuhiro, Komatsu, Tatsuji, Mannami, Tomohiko, Matsushita, Kouki, Yoshizawa, Kaname, Makita, Fujio, Nikami, Toshiki, Nishimura, Hideo, Kouno, Hiroshi, Kouno, Hirotaka, Ota, Hajime, Komura, Takuya, Nakamura, Yoko, Shimada, Masaaki, Hirashima, Noboru, Komeda, Toshiki, Ario, Keisuke, Nakamuta, Makoto, Yamashita, Tsutomu, Furuta, Kiyoshi, Kikuchi, Masahiro, Naeshiro, Noriaki, Takahashi, Hironao, Mano, Yutaka, Tsunematsu, Seiji, Yabuuchi, Iwao, Shimada, Yusuke, Yamauchi, Kazuhiko, Sugimoto, Rie, Sakai, Hironori, Mita, Eiji, Koda, Masaharu, Tsuruta, Satoru, Kamitsukasa, Hiroshi, Sato, Takeaki, Masaki, Naohiko, Kobata, Tatsuro, Fukushima, Nobuyoshi, Ohara, Yukio, Muro, Toyokichi, Takesaki, Eiichi, Takaki, Hitoshi, Yamamoto, Tetsuo, Kato, Michio, Nagaoki, Yuko, Hayashi, Shigeki, Ishida, Jinya, Watanabe, Yukio, Kobayashi, Masakazu, Koga, Michiaki, Saoshiro, Takeo, Yagura, Michiyasu, Hirata, Keisuke, Tanaka, Atsushu, Takikawa, Hajime, Zeniya, Mikio, Abe, Masanori, Onji, Morikazu, Kaneko, Shuichi, Honda, Masao, Arai, Kuniaki, Arinaga-Hino, Teruko, Hashimoto, Etsuko, Taniai, Makiko, Umemura, Takeji, Joshita, Satoru, Nakao, Kazuhiko, Ichikawa, Tatsuki, Shibata, Hidetaka, Yamagiwa, Satoshi, Seike, Masataka, Honda, Koichi, Sakisaka, Shotaro, Takeyama, Yasuaki, Harada, Masaru, Senju, Michio, Yokosuka, Osamu, Kanda, Tatsuo, Ueno, Yoshiyuki, Kikuchi, Kentaro, Ebinuma, Hirotoshi, Himoto, Takashi, Yasunami, Michio, Murata, Kazumoto, Mizokami, Masashi, Kawata, Kazuhito, Shimoda, Shinji, Miyake, Yasuhiro, Takaki, Akinobu, Yamamoto, Kazuhide, Hirano, Katsuji, Ichida, Takafumi, Ido, Akio, Tsubouchi, Hirohito, Chayama, Kazuaki, Harada, Kenichi, Nakanuma, Yasuni, Maehara, Yoshihiko, Taketomi, Akinobu, Shirabe, Ken, Soejima, Yuji, Mori, Akira, Yagi, Shintaro, Uemoto, Shinji, H, Egawa, Tanaka, Tomohiro, Yamashiki, Noriyo, Tamura, Sumito, Sugawara, Yasuhiro, Kokudo, Norihiro, Juran, Brian D., Atkinson, Elizabeth J., Cheung, Angela, de Andrade, Mariza, Lazaridis, Konstantinos N., Chalasani, Naga, Luketic, Vel, Odin, Joseph, Chopra, Kapil, Baras, Aris, Horowitz, Julie, Abecasis, Goncalo, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Toledo, Karina, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Ulloa, Ricardo H., Bai, Xiaodong, Balasubramanian, Suganthi, Barnard, Leland, Blumenfeld, Andrew, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Khalid, Shareef, Maxwell, Evan K., Salerno, William, Staples, Jeffrey C., Jones, Marcus B., Mitnaul, Lyndon J., Sturgess, Richard, Healey, Christopher, Yeoman, Andrew, Gunasekera, Anton V.J., Kooner, Paul, Kapur, Kapil, Sathyanarayana, V., Kallis, Yiannis, Subhani, Javaid, Harvey, Rory, McCorry, Roger, Rooney, Paul, Ramanaden, David, Evans, Richard, Mathialahan, Thiriloganathan, Gasem, Jaber, Shorrock, Christopher, Bhalme, Mahesh, Southern, Paul, Tibble, Jeremy A., Gorard, David A., Jones, Susan, Mells, George, Mulcahy, Victoria, Srivastava, Brijesh, Foxton, Matthew R., Collins, Carole E., Elphick, David, Karmo, Mazn, Porras-Perez, Francisco, Mendall, Michael, Yapp, Tom, Patel, Minesh, Ede, Roland, Sayer, Joanne, Jupp, James, Fisher, Neil, Carter, Martyn J., Koss, Konrad, Shah, Jayshri, Piotrowicz, Andrzej, Scott, Glyn, Grimley, Charles, Gooding, Ian R., Williams, Simon, Tidbury, Judith, Lim, Guan, Cheent, Kuldeep, Levi, Sass, Mansour, Dina, Beckley, Matilda, Hollywood, Coral, Wong, Terry, Marley, Richard, Ramage, John, Gordon, Harriet M., Ridpath, Jo, Ngatchu, Theodore, Bob Grover, Vijay Paul, Shidrawi, Ray G., Abouda, George, Corless, L., Narain, Mark, Rees, Ian, Brown, Ashley, Taylor-Robinson, Simon, Wilkins, Joy, Grellier, Leonie, Banim, Paul, Das, Debasish, Heneghan, Michael A., Curtis, Howard, Matthews, Helen C., Mohammed, Faiyaz, Aldersley, Mark, Srirajaskanthan, Raj, Walker, Giles, McNair, Alistair, Sharif, Amar, Sen, Sambit, Bird, George, Prince, Martin I., Prasad, Geeta, Kitchen, Paul, Barnardo, Adrian, Oza, Chirag, Sivaramakrishnan, Nurani N., Gupta, Prakash, Shah, Amir, Evans, Chris D.J., Saha, Subrata, Pollock, Katharine, Bramley, Peter, Mukhopadhya, Ashis, Barclay, Stephen T., McDonald, Natasha, Bathgate, Andrew J., Palmer, Kelvin, Dillon, John F., Rushbrook, Simon M., Przemioslo, Robert, McDonald, Chris, Millar, Andrew, Tai, Cheh, Mitchell, Stephen, Metcalf, Jane, Shaukat, Syed, Ninkovic, Mary, Shmueli, Udi, Davis, Andrew, Naqvi, Asifabbas, Lee, Tom J.W., Ryder, Stephen, Collier, Jane, Klass, Howard, Cramp, Matthew E., Sharer, Nichols, Aspinall, Richard, Ghosh, Deb, Douds, Andrew C., Booth, Jonathan, Williams, Earl, Hussaini, Hyder, Christie, John, Mann, Steven, Thorburn, Douglas, Marshall, Aileen, Patanwala, Imran, Ala, Aftab, Maltby, Julia, Matthew, Ray, Corbett, Chris, Vyas, Sam, Singhal, Saket, Gleeson, Dermot, Misra, Sharat, Butterworth, Jeff, George, Keith, Harding, Tim, Douglass, Andrew, Mitchison, Harriet, Panter, Simon, Shearman, Jeremy, Bray, Gary, Roberts, Michael, Butcher, Graham, Forton, Daniel, Mahmood, Zahid, Cowan, Matthew, Das, Debashis, Ch'ng, Chin Lye, Rahman, Mesbah, Whatley, Gregory C.A., Wesley, Emma, Mandal, Aditya, Jain, Sanjiv, Pereira, Stephen P., Wright, Mark, Trivedi, Palak, Gordon, Fiona H., Unitt, Esther, Palejwala, Altaf, Austin, Andrew, Vemala, Vishwaraj, Grant, Allister, Higham, Andrew D., Brind, Alison, Mathew, Ray, Cox, Mark, Ramakrishnan, Subramaniam, King, Alistair, Whalley, Simon, Fraser, Jocelyn, Thomson, S.J., Bell, Andrew, Wong, Voi Shim, Kia, Richard, Gee, Ian, Keld, Richard, Ransford, Rupert, Gotto, James, Millson, Charles, Cordell, Heather J., Fryett, James J., Ueno, Kazuko, Darlay, Rebecca, Aiba, Yoshihiro, Hitomi, Yuki, Kawashima, Minae, Nishida, Nao, Khor, Seik-Soon, Gervais, Olivier, Kawai, Yosuke, Nagasaki, Masao, Tokunaga, Katsushi, Gerussi, Alessio, Carbone, Marco, Asselta, Rosanna, Ferreira, Manuel A.R., Sun, Dylan, Jones, David E., Flack, Steven, Spicer, Ann, Mulcahy, Victoria L., Byun, Jinyoung, Han, Younghun, Sandford, Richard N., Amos, Christopher I., Seldin, Michael F., Invernizzi, Pietro, Nakamura, Minoru, and Mells, George F.

Published
2022
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39. Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Author

Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O'Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, and Penn, John

Abstract

The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, including PIEZO1 on varicose veins, COL6A1 on corneal resistance, MEPE on bone density, and IQGAP2 and GMPR on blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenic BRCA1 and BRCA2 variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. [ABSTRACT FROM AUTHOR]

Published
2020
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40. ATLANTIS - Attractor Landscape Analysis Toolbox for Cell Fate Discovery and Reprogramming

Author

Shah, Osama Shiraz, primary, Chaudhary, Muhammad Faizyab Ali, additional, Awan, Hira Anees, additional, Fatima, Fizza, additional, Arshad, Zainab, additional, Amina, Bibi, additional, Ahmed, Maria, additional, Hameed, Hadia, additional, Furqan, Muhammad, additional, Khalid, Shareef, additional, Faisal, Amir, additional, and Chaudhary, Safee Ullah, additional

Published
2018
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41. Effect of hydrogen peroxide and saturated animal fats on blood lipids level of adult male rats

Author

Maan Kallo and Khalid Shareef

Subjects
Animal fat, saturated animal fats, Adult male, Blood lipids, hydrogen peroxide, blood lipids level, chemistry.chemical_compound, chemistry, lipids (amino acids, peptides, and proteins), Food science, Hydrogen peroxide, lcsh:L, lcsh:Science (General), lcsh:Education, lcsh:Q1-390
Abstract

Thirty two albino male adult healthy rats were used as a biological and experimental model for this study, their body weight ranged between 250-275g and aged 3-4 months. They were divided according to the body weight into four groups. The first group considered to be control group, feed ordinary diet and normal drinking water, the second group feed ordinary diet and giving 0.5% H2O2 in freshly prepared drinking water, which contains oxygen and hydroxyl free radicals. The third group feed atherogenic diet (normal diet containing 4.69% saturated animal fats and 0.26% cholesterol) and normal drinking water, and the fourth group feed atherogenic diet and 0.5% HjC^ in drinking water for 30days experimental period. Nutritional status (body mass, afford diet, eliminated feces, liver, heart, kidney weights and diet lipid absorption) were estimated. Serum total lipid, cholesterol, triglycerides, phospholipids and various lipoproteins were determined, atherogenic indices were calculated and the malondialdehyde levels of liver, heart, kidney tissues were estimated. Analysis of variance and Duncan multiple tests showed the highly effect of 0.5% HsOz with/without saturated animal fats and cholesterol, was caused a decrease in body mass, ingesting diet weights and body absorbable lipid and increase values of serum total lipids, cholesterol, triglyceride, very low density and low density lipoproteins, In addition, it caused an increase values of atherogenic indices and a decrease in high density lipoprotein. Also the atherogenic diet alone was caused a similar affect of hydrogen peroxide on rat's nutritional status and serum lipid profile, therefore, the interaction affect of those two agents together was caused increase values of rat serum lipids, lipoproteins, malondialdehyde and a decrease in high density lipoprotein value.

Published
2006

42. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Author

Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K., Wilk, Jemma B., Morley, Michael P., Chaffin, Mark D., Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G., Ärnlöv, Johan, Backman, Joshua D., Biggs, Mary L., Bloom, Heather L., Brandimarto, Jeffrey, Brown, Michael R., Buckbinder, Leonard, Carey, David J., Chasman, Daniel I., Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P., Delgado, Graciela E., Denaxas, Spiros, Doney, Alexander S., Dörr, Marcus, Dudley, Samuel C., Dunn, Michael E., Engström, Gunnar, Esko, Tõnu, Felix, Stephan B., Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S., Gross, Stefan, Guðbjartsson, Daníel F., Gutmann, Rebecca, Haggerty, Christopher M., Van Der Harst, Pim, Hyde, Craig L., Ingelsson, Erik, Jukema, J. Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E., Køber, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M., London, Barry, Lotta, Luca A., Lovering, Ruth C., Luan, Jian’an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B., März, Winfried, Melander, Olle, Mordi, Ify R., Morgan, Thomas, Morris, Andrew D., Morris, Andrew P., Morrison, Alanna C., Nagle, Michael W., Nelson, Christopher P., Niessner, Alexander, Niiranen, Teemu, O’Donoghue, Michelle L., Owens, Anjali T., Palmer, Colin N. A., Parry, Helen M., Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M., Rice, Kenneth M., Ridker, Paul M., Romaine, Simon P. R., Rotter, Jerome I., Salo, Perttu, Salomaa, Veikko, Van Setten, Jessica, Shalaby, Alaa A., Smelser, Diane T., Smith, Nicholas L., Stender, Steen, Stott, David J., Svensson, Per, Tammesoo, Mari-Liis, Taylor, Kent D., Teder-Laving, Maris, Teumer, Alexander, Thorgeirsson, Guðmundur, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G., Veluchamy, Abirami, Völker, Uwe, Voors, Adriaan A., Wang, Xiaosong, Wareham, Nicholas J., Waterworth, Dawn, Weeke, Peter E., Weiss, Raul, Wiggins, Kerri L., Xing, Heming, Yerges-Armstrong, Laura M., Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, Samani, Nilesh J., McMurray, John J. V., Yang, Jian, Visscher, Peter M., Newton-Cheh, Christopher, Malarstig, Anders, Holm, Hilma, Lubitz, Steven A., Sattar, Naveed, Holmes, Michael V., Cappola, Thomas P., Asselbergs, Folkert W., Hingorani, Aroon D., Kuchenbaecker, Karoline, Ellinor, Patrick T., Lang, Chim C., Stefansson, Kari, Smith, J. Gustav, Vasan, Ramachandran S., Swerdlow, Daniel I., Lumbers, R. Thomas, Abecasis, Goncalo, Backman, Joshua, Bai, Xiaodong, Balasubramanian, Suganthi, Banerjee, Nilanjana, Baras, Aris, Barnard, Leland, Beechert, Christina, Blumenfeld, Andrew, Cantor, Michael, Chai, Yating, Coppola, Giovanni, Damask, Amy, Dewey, Frederick, Economides, Aris, Eom, Gisu, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Gurski, Lauren, Guzzardo, Paloma M., Habegger, Lukas, Hahn, Young, Hawes, Alicia, Van Hout, Cristopher, Jones, Marcus B., Khalid, Shareef, Lattari, Michael, Li, Alexander, Lin, Nan, Liu, Daren, Lopez, Alexander, Manoochehri, Kia, Marchini, Jonathan, Marcketta, Anthony, Maxwell, Evan K., McCarthy, Shane, Mitnaul, Lyndon J., O’Dushlaine, Colm, Overton, John D., Padilla, Maria Sotiropoulos, Paulding, Charles, Penn, John, Pradhan, Manasi, Reid, Jeffrey G., Schleicher, Thomas D., Schurmann, Claudia, Shuldiner, Alan, Staples, Jeffrey C., Sun, Dylan, Toledo, Karina, Ulloa, Ricardo H., Widom, Louis, Wolf, Sarah E., Yadav, Ashish, and Ye, Bin

Subjects
2. Zero hunger, 631/443/592/2727, 631/208/205/2138, 692/699/75/230, 45/43, article, 692/308/174, 3. Good health
Abstract

Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.

43. Macrophage WDFY3, a protector against autoimmunity.

Author

Wu X, Wang Z, Croce KR, Li F, Cui J, D'Agati VD, Soni RK, Khalid S, Saleheen D, Tabas I, Yamamoto A, and Zhang H

Abstract

Efficient efferocytosis is essential for maintaining homeostasis. Excessive apoptotic cell (AC) death and impaired macrophage efferocytosis lead to autoantigen release and autoantibody production, immune activation, and organ damage. It remains unclear whether these immunogenic autoantigens are the sole cause of increased autoimmunity or if efferocytosis of ACs directly influences macrophage function, impacting their ability to activate T cells and potentially amplifying autoimmune responses. Additionally, it has not been established if enhancing macrophage efferocytosis or modulating macrophage responses to AC engulfment can be protective in autoimmune-like disorders. Our previous work showed WDFY3 is crucial for efficient macrophage efferocytosis. This study reveals that myeloid knockout of Wdfy3 exacerbates autoimmunity in young mice with increased AC burden by systemic injections of ACs and in middle-aged mice developing spontaneous autoimmunity, whereas ectopic overexpression of WDFY3 suppresses autoimmunity in these models. Macrophages, as efferocytes, can activate T cells and the inflammasome upon engulfing ACs, which are suppressed by overexpressing WDFY3. This work uncovered the role of WDFY3 as a protector against autoimmunity by promoting macrophage efferocytosis thus limiting autoantigen production, as well as mitigating T cell activation and inflammasome activation., Competing Interests: Competing interests The authors declare no competing interests.

Published
2024
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44. Low MBOAT7 expression, a genetic risk for MASH, promotes a profibrotic pathway involving hepatocyte TAZ upregulation.

Author

Moore MP, Wang X, Kennelly JP, Shi H, Ishino Y, Kano K, Aoki J, Cherubini A, Ronzoni L, Guo X, Chalasani NP, Khalid S, Saleheen D, Mitsche MA, Rotter JI, Yates KP, Valenti L, Kono N, Tontonoz P, and Tabas I

Abstract

Background and Aims: The common genetic variant rs641738 C>T is a risk factor for metabolic dysfunction-associated steatotic liver disease and metabolic dysfunction-associated steatohepatitis (MASH), including liver fibrosis, and is associated with decreased expression of the phospholipid-remodeling enzyme MBOAT7 (LPIAT1). However, whether restoring MBOAT7 expression in established metabolic dysfunction-associated steatotic liver disease dampens the progression to liver fibrosis and, importantly, the mechanism through which decreased MBOAT7 expression exacerbates MASH fibrosis remain unclear., Approach and Results: We first showed that hepatocyte MBOAT7 restoration in mice with diet-induced steatohepatitis slows the progression to liver fibrosis. Conversely, when hepatocyte-MBOAT7 was silenced in mice with established hepatosteatosis, liver fibrosis but not hepatosteatosis was exacerbated. Mechanistic studies revealed that hepatocyte-MBOAT7 restoration in MASH mice lowered hepatocyte-TAZ (WWTR1), which is known to promote MASH fibrosis. Conversely, hepatocyte-MBOAT7 silencing enhanced TAZ upregulation in MASH. Finally, we discovered that changes in hepatocyte phospholipids due to MBOAT7 loss-of-function promote a cholesterol trafficking pathway that upregulates TAZ and the TAZ-induced profibrotic factor Indian hedgehog (IHH). As evidence for relevance in humans, we found that the livers of individuals with MASH carrying the rs641738-T allele had higher hepatocyte nuclear TAZ, indicating higher TAZ activity and increased IHH mRNA., Conclusions: This study provides evidence for a novel mechanism linking MBOAT7-LoF to MASH fibrosis, adds new insight into an established genetic locus for MASH, and, given the druggability of hepatocyte TAZ for MASH fibrosis, suggests a personalized medicine approach for subjects at increased risk for MASH fibrosis due to inheritance of variants that lower MBOAT7., (Copyright © 2024 American Association for the Study of Liver Diseases.)

Published
2024
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45. Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.

Author

Dominy J, Koch C, Lamarche L, Denning D, Gurtan A, Khan MZ, Rasheed A, Mian MR, Jahanzaib M, Khalid S, and Saleheen D

Subjects
Adult, Female, Humans, Alleles, Arrhythmias, Cardiac genetics, Heart Atria pathology, Heart Atria diagnostic imaging, Loss of Function Mutation genetics, Atrial Fibrillation genetics, Cardiomyopathies complications, Cardiomyopathies genetics, Fibrosis genetics, Hypertension genetics, Serine Endopeptidases genetics, South Asian People genetics
Published
2024
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