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1. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.

Author

Ghouse, Jonas, Sveinbjörnsson, Gardar, Vujkovic, Marijana, Seidelin, Anne-Sofie, Gellert-Kristensen, Helene, Ahlberg, Gustav, Tragante, Vinicius, Rand, Søren, Brancale, Joseph, Vilarinho, Silvia, Lundegaard, Pia, Sørensen, Erik, Erikstrup, Christian, Bruun, Mie, Jensen, Bitten, Brunak, Søren, Banasik, Karina, Ullum, Henrik, Verweij, Niek, Lotta, Luca, Baras, Aris, Mirshahi, Tooraj, Carey, David, Kaplan, David, Lynch, Julie, Morgan, Timothy, Schwantes-An, Tae-Hwi, Dochtermann, Daniel, Pyarajan, Saiju, Tsao, Philip, Laisk, Triin, Mägi, Reedik, Kozlitina, Julia, Tybjærg-Hansen, Anne, Jones, David, Knowlton, Kirk, Nadauld, Lincoln, Ferkingstad, Egil, Björnsson, Einar, Ulfarsson, Magnus, Sturluson, Árni, Sulem, Patrick, Pedersen, Ole, Ostrowski, Sisse, Gudbjartsson, Daniel, Stefansson, Kari, Olesen, Morten, Chang, Kyong-Mi, Holm, Hilma, Bundgaard, Henning, and Stender, Stefan

Subjects
Humans, Liver Cirrhosis, Genome-Wide Association Study, Genetic Predisposition to Disease, Liver Neoplasms, Carcinoma, Hepatocellular, Alanine Transaminase, Polymorphism, Single Nucleotide, Male, Lipase, Female, gamma-Glutamyltransferase, Membrane Proteins, Cohort Studies, Case-Control Studies, Multifactorial Inheritance, Risk Factors, Genetic Variation
Abstract

We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism. One of these, PNPLA3 p.Ile148Met, interacts with alcohol intake, obesity and diabetes on the risk of cirrhosis and hepatocellular carcinoma (HCC). We develop a polygenic risk score that associates with the progression from cirrhosis to HCC. By focusing on prioritized genes from common variant analyses, we find that rare coding variants in GPAM associate with lower ALT, supporting GPAM as a potential target for therapeutic inhibition. In conclusion, this study provides insights into the genetic underpinnings of cirrhosis.

Published
2024

2. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author

de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J., Álvarez, Victoria, Lleó, Alberto, Real, Luis M., Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D., Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M., Mather, Karen A., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A., Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M., Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J., and Ruiz, Agustín

Published
2023
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3. Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis

Author

Lawler, Patrick R., Manvelian, Garen, Coppi, Alida, Damask, Amy, Cantor, Michael N., Ferreira, Manuel A. R., Paulding, Charles, Banerjee, Nilanjana, Li, Dadong, Jorgensen, Susan, Attre, Richa, Carey, David J., Krebs, Kristi, Milani, Lili, Hveem, Kristian, Damås, Jan K., Solligård, Erik, Stender, Stefan, Tybjærg-Hansen, Anne, Nordestgaard, Børge G., Hernandez-Beeftink, Tamara, Rogne, Tormod, Flores, Carlos, Villar, Jesús, Walley, Keith R., Liu, Vincent X., Fohner, Alison E., Lotta, Luca A., Kyratsous, Christos A., Sleeman, Mark W., Scemama, Michel, DelGizzi, Richard, Pordy, Robert, Horowitz, Julie E., Baras, Aris, Martin, Greg S., Steg, Philippe Gabriel, Schwartz, Gregory G., Szarek, Michael, and Goodman, Shaun G.

Published
2023
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4. Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie

Published
2022
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5. ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Author

Praveen, Kavita, Patel, Gaurang C., Gurski, Lauren, Ayer, Ariane H., Persaud, Trikaladarshi, Still, Matthew D., Miloscio, Lawrence, Van Zyl, Tavé, Di Gioia, Silvio Alessandro, Brumpton, Ben, Krebs, Kristi, Åsvold, Bjørn Olav, Chen, Esteban, Chavali, Venkata R. M., Fury, Wen, Gudiseva, Harini V., Hyde, Sarah, Jorgenson, Eric, Lefebvre, Stephanie, Li, Dadong, Li, Alexander, Mclninch, James, Patel, Brijeshkumar, Rabinowitz, Jeremy S., Salowe, Rebecca, Schurmann, Claudia, Seidelin, Anne-Sofie, Stahl, Eli, Sun, Dylan, Teslovich, Tanya M., Tybjærg-Hansen, Anne, Willer, Cristen, Waldron, Scott, Walley, Sabrina, Yang, Hua, Zaveri, Sarthak, Hu, Ying, Hveem, Kristian, Melander, Olle, Milani, Lili, Stender, Stefan, O’Brien, Joan M., Jones, Marcus B., Abecasis, Gonçalo R., Cantor, Michael N., Weyne, Jonathan, Karalis, Katia, Economides, Aris, Della Gatta, Giusy, Ferreira, Manuel A., Yancopoulos, George D., Baras, Aris, Romano, Carmelo, and Coppola, Giovanni

Published
2022
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6. Relationship between genetic variation at PPP1R3B and levels of liver glycogen and triglyceride

Author

Stender, Stefan, Smagris, Eriks, Lauridsen, Bo K, Kofoed, Klaus F, Nordestgaard, Børge G, Tybjærg‐Hansen, Anne, Pennacchio, Len A, Dickel, Diane E, Cohen, Jonathan C, and Hobbs, Helen H

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Chronic Liver Disease and Cirrhosis, Digestive Diseases, Liver Disease, Genetics, 2.1 Biological and endogenous factors, Aetiology, Oral and gastrointestinal, Adult, Aged, Animals, Female, Genetic Variation, Humans, Liver, Liver Glycogen, Male, Mice, Middle Aged, Protein Phosphatase 1, Triglycerides, Medical Biochemistry and Metabolomics, Gastroenterology & Hepatology, Clinical sciences
Abstract

Genetic variation at rs4240624 on chromosome 8 is associated with an attenuated signal on hepatic computerized tomography, which has been attributed to changes in hepatic fat. The closest coding gene to rs4240624, PPP1R3B, encodes a protein that promotes hepatic glycogen synthesis. Here, we performed studies to determine whether the x-ray attenuation associated with rs4240624 is due to differences in hepatic glycogen or hepatic triglyceride content (HTGC). A sequence variant in complete linkage disequilibrium with rs4240624, rs4841132, was genotyped in the Dallas Heart Study (DHS), the Dallas Liver Study, and the Copenhagen Cohort (n = 112,428) of whom 1,539 had nonviral liver disease. The minor A-allele of rs4841132 was associated with increased hepatic x-ray attenuation (n = 1,572; P = 4 × 10-5 ), but not with HTGC (n = 2,674; P = 0.58). Rs4841132-A was associated with modest, but significant, elevations in serum alanine aminotransferase (ALT) in the Copenhagen Cohort (P = 3 × 10-4 ) and the DHS (P = 0.004), and with odds ratios for liver disease of 1.13 (95% CI, 0.97-1.31) and 1.23 (1.01-1.51), respectively. Mice lacking protein phosphatase 1 regulatory subunit 3B (PPP1R3B) were deficient in hepatic glycogen, whereas HTGC was unchanged. Hepatic overexpression of PPP1R3B caused accumulation of hepatic glycogen and elevated plasma levels of ALT, but did not change HTGC.ConclusionThese observations are consistent with the notion that the minor allele of rs4841132 promotes a mild form of hepatic glycogenosis that is associated with hepatic injury. (Hepatology 2018;67:2182-2195).

Published
2018

7. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Author

Mahajan, Anubha, Wessel, Jennifer, Willems, Sara M, Zhao, Wei, Robertson, Neil R, Chu, Audrey Y, Gan, Wei, Kitajima, Hidetoshi, Taliun, Daniel, Rayner, N William, Guo, Xiuqing, Lu, Yingchang, Li, Man, Jensen, Richard A, Hu, Yao, Huo, Shaofeng, Lohman, Kurt K, Zhang, Weihua, Cook, James P, Prins, Bram Peter, Flannick, Jason, Grarup, Niels, Trubetskoy, Vassily Vladimirovich, Kravic, Jasmina, Kim, Young Jin, Rybin, Denis V, Yaghootkar, Hanieh, Müller-Nurasyid, Martina, Meidtner, Karina, Li-Gao, Ruifang, Varga, Tibor V, Marten, Jonathan, Li, Jin, Smith, Albert Vernon, An, Ping, Ligthart, Symen, Gustafsson, Stefan, Malerba, Giovanni, Demirkan, Ayse, Tajes, Juan Fernandez, Steinthorsdottir, Valgerdur, Wuttke, Matthias, Lecoeur, Cécile, Preuss, Michael, Bielak, Lawrence F, Graff, Marielisa, Highland, Heather M, Justice, Anne E, Liu, Dajiang J, Marouli, Eirini, Peloso, Gina Marie, Warren, Helen R, ExomeBP Consortium, MAGIC Consortium, GIANT Consortium, Afaq, Saima, Afzal, Shoaib, Ahlqvist, Emma, Almgren, Peter, Amin, Najaf, Bang, Lia B, Bertoni, Alain G, Bombieri, Cristina, Bork-Jensen, Jette, Brandslund, Ivan, Brody, Jennifer A, Burtt, Noël P, Canouil, Mickaël, Chen, Yii-Der Ida, Cho, Yoon Shin, Christensen, Cramer, Eastwood, Sophie V, Eckardt, Kai-Uwe, Fischer, Krista, Gambaro, Giovanni, Giedraitis, Vilmantas, Grove, Megan L, de Haan, Hugoline G, Hackinger, Sophie, Hai, Yang, Han, Sohee, Tybjærg-Hansen, Anne, Hivert, Marie-France, Isomaa, Bo, Jäger, Susanne, Jørgensen, Marit E, Jørgensen, Torben, Käräjämäki, Annemari, Kim, Bong-Jo, Kim, Sung Soo, Koistinen, Heikki A, Kovacs, Peter, Kriebel, Jennifer, Kronenberg, Florian, Läll, Kristi, Lange, Leslie A, Lee, Jung-Jin, Lehne, Benjamin, Li, Huaixing, and Lin, Keng-Hung

Subjects
ExomeBP Consortium, MAGIC Consortium, GIANT Consortium, Humans, Diabetes Mellitus, Type 2, Genetic Predisposition to Disease, Chromosome Mapping, Alleles, European Continental Ancestry Group, Female, Male, Genetic Variation, Genome-Wide Association Study, Whole Exome Sequencing, Diabetes Mellitus, Type 2, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P

Published
2018

8. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

Author

Gusarova, Viktoria, O’Dushlaine, Colm, Teslovich, Tanya M, Benotti, Peter N, Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V, Murray, Michael F, Mahajan, Anubha, Nielsen, Jonas B, Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F, Sjögren, Marketa, Emdin, Connor A, Scott, Robert A, Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C, Dwivedi, Om Prakash, Prasad, Rashmi B, Bruse, Shannon, Lopez, Alexander E, Penn, John, Marcketta, Anthony, Leader, Joseph B, Still, Christopher D, Kirchner, H Lester, Mirshahi, Uyenlinh L, Wardeh, Amr H, Hartle, Cassandra M, Habegger, Lukas, Fetterolf, Samantha N, Tusie-Luna, Teresa, Morris, Andrew P, Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I, Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M, Khera, Amit V, Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A, Willer, Cristen J, Holmen, Oddgeir L, Ritchie, Marylyn D, Ledbetter, David H, Murphy, Andrew J, Borecki, Ingrid B, Reid, Jeffrey G, Overton, John D, Hansson, Ola, Groop, Leif, Shah, Svati H, Kraus, William E, Rader, Daniel J, Chen, Yii-Der I, Hveem, Kristian, Wareham, Nicholas J, Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, Abecasis, Goncalo R, Altshuler, David, Florez, Jose C, Boehnke, Michael, McCarthy, Mark I, Yancopoulos, George D, Carey, David J, Shuldiner, Alan R, Baras, Aris, Dewey, Frederick E, and Gromada, Jesper

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Diabetes, Atherosclerosis, Cardiovascular, Metabolic and endocrine, Amino Acid Substitution, Angiopoietin-Like Protein 4, Animals, Blood Glucose, Case-Control Studies, Diabetes Mellitus, Type 2, Female, Gene Silencing, Genetic Association Studies, Genetic Variation, Heterozygote, Homeostasis, Humans, Insulin Resistance, Lipoprotein Lipase, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Risk Factors, Exome Sequencing
Abstract

Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10-10), lower fasting glucose, and greater insulin sensitivity. Predicted loss-of-function variants are associated with lower odds of T2D among 32,015 cases and 84,006 controls (odds ratio 0.71, 95% confidence interval 0.49-0.99, p = 0.041). Functional studies in Angptl4-deficient mice confirm improved insulin sensitivity and glucose homeostasis. In conclusion, genetic inactivation of ANGPTL4 is associated with improved glucose homeostasis and reduced risk of T2D.

Published
2018

9. Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

Author

Zhao, Wei, Rasheed, Asif, Tikkanen, Emmi, Lee, Jung-Jin, Butterworth, Adam S, Howson, Joanna MM, Assimes, Themistocles L, Chowdhury, Rajiv, Orho-Melander, Marju, Damrauer, Scott, Small, Aeron, Asma, Senay, Imamura, Minako, Yamauch, Toshimasa, Chambers, John C, Chen, Peng, Sapkota, Bishwa R, Shah, Nabi, Jabeen, Sehrish, Surendran, Praveen, Lu, Yingchang, Zhang, Weihua, Imran, Atif, Abbas, Shahid, Majeed, Faisal, Trindade, Kevin, Qamar, Nadeem, Mallick, Nadeem Hayyat, Yaqoob, Zia, Saghir, Tahir, Rizvi, Syed Nadeem Hasan, Memon, Anis, Rasheed, Syed Zahed, Memon, Fazal-ur-Rehman, Mehmood, Khalid, Ahmed, Naveeduddin, Qureshi, Irshad Hussain, Tanveer-us-Salam, Iqbal, Wasim, Malik, Uzma, Mehra, Narinder, Kuo, Jane Z, Sheu, Wayne H-H, Guo, Xiuqing, Hsiung, Chao A, Juang, Jyh-Ming J, Taylor, Kent D, Hung, Yi-Jen, Lee, Wen-Jane, Quertermous, Thomas, Lee, I-Te, Hsu, Chih-Cheng, Bottinger, Erwin P, Ralhan, Sarju, Teo, Yik Ying, Wang, Tzung-Dau, Alam, Dewan S, Di Angelantonio, Emanuele, Epstein, Steve, Nielsen, Sune F, Nordestgaard, Børge G, Tybjaerg-Hansen, Anne, Young, Robin, Benn, Marianne, Frikke-Schmidt, Ruth, Kamstrup, Pia R, Jukema, J Wouter, Sattar, Naveed, Smit, Roelof, Chung, Ren-Hua, Liang, Kae-Woei, Anand, Sonia, Sanghera, Dharambir K, Ripatti, Samuli, Loos, Ruth JF, Kooner, Jaspal S, Tai, E Shyong, Rotter, Jerome I, Chen, Yii-Der Ida, Frossard, Philippe, Maeda, Shiro, Kadowaki, Takashi, Reilly, Muredach, Pare, Guillaume, Melander, Olle, Salomaa, Veikko, Rader, Daniel J, Danesh, John, Voight, Benjamin F, and Saleheen, Danish

Subjects
Biological Sciences, Genetics, Obesity, Human Genome, Heart Disease - Coronary Heart Disease, Clinical Research, Heart Disease, Diabetes, Cardiovascular, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Asia, Asian People, Biomarkers, Comorbidity, Coronary Disease, Diabetes Mellitus, Type 2, Europe, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DRB5 Chains, Humans, Metabolic Networks and Pathways, Metabolic Syndrome, Molecular Targeted Therapy, Mutation, Missense, Polymorphism, Single Nucleotide, Risk Factors, White People, CHD Exome+ Consortium, EPIC-CVD Consortium, EPIC-Interact Consortium, Michigan Biobank, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CHD, including a new T2D association at a missense variant in HLA-DRB5 (odds ratio (OR) = 1.29). We show that genetically mediated increase in T2D risk also confers higher CHD risk. Joint T2D-CHD analysis identified eight variants-two of which are coding-where T2D and CHD associations appear to colocalize, including a new joint T2D-CHD association at the CCDC92 locus that also replicated for T2D. The variants associated with both outcomes implicate new pathways as well as targets of existing drugs, including icosapent ethyl and adipocyte fatty-acid-binding protein.

Published
2017

10. Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile

Author

Rimbert, Antoine, Yeung, Ming W., Dalila, Nawar, Thio, Chris H.L., Yu, Haojie, Loaiza, Natalia, Oldoni, Federico, van der Graaf, Adriaan, Wang, Siqi, Said, M. Abdullah, Blauw, Lisanne L., Girardeau, Aurore, Bray, Lise, Caillaud, Amandine, Bloks, Vincent W., Marrec, Marie, Mouli, Philippe, Rensen, Patrick C.N., van de Sluis, Bart, Snieder, Harold, Di Filippo, Mathilde, van der Harst, Pim, Tybjaerg-Hansen, Anne, Zimmerman, Philippe, Cariou, Bertrand, and Kuivenhoven, Jan

Published
2022
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15. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

Author

Dewey, Frederick E, Gusarova, Viktoria, Dunbar, Richard L, O'Dushlaine, Colm, Schurmann, Claudia, Gottesman, Omri, McCarthy, Shane, Van Hout, Cristopher V, Bruse, Shannon, Dansky, Hayes M, Leader, Joseph B, Murray, Michael F, Ritchie, Marylyn D, Kirchner, H Lester, Habegger, Lukas, Lopez, Alex, Penn, John, Zhao, An, Shao, Weiping, Stahl, Neil, Murphy, Andrew J, Hamon, Sara, Bouzelmat, Aurelie, Zhang, Rick, Shumel, Brad, Pordy, Robert, Gipe, Daniel, Herman, Gary A, Sheu, Wayne HH, Lee, I-Te, Liang, Kae-Woei, Guo, Xiuqing, Rotter, Jerome I, Chen, Yii-Der I, Kraus, William E, Shah, Svati H, Damrauer, Scott, Small, Aeron, Rader, Daniel J, Wulff, Anders Berg, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, van den Hoek, Anita M, Princen, Hans MG, Ledbetter, David H, Carey, David J, Overton, John D, Reid, Jeffrey G, Sasiela, William J, Banerjee, Poulabi, Shuldiner, Alan R, Borecki, Ingrid B, Teslovich, Tanya M, Yancopoulos, George D, Mellis, Scott J, Gromada, Jesper, and Baras, Aris

Subjects
Genetics, Heart Disease, Clinical Research, Atherosclerosis, Heart Disease - Coronary Heart Disease, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Aged, Angiopoietin-Like Protein 3, Angiopoietin-like Proteins, Angiopoietins, Animals, Antibodies, Monoclonal, Cardiovascular Diseases, Coronary Artery Disease, Disease Models, Animal, Dose-Response Relationship, Drug, Double-Blind Method, Dyslipidemias, Female, Humans, Lipid Metabolism, Lipids, Male, Mice, Mice, Inbred Strains, Middle Aged, Mutation, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundLoss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known whether such variants or therapeutic antagonism of ANGPTL3 are associated with a reduced risk of atherosclerotic cardiovascular disease.MethodsWe sequenced the exons of ANGPTL3 in 58,335 participants in the DiscovEHR human genetics study. We performed tests of association for loss-of-function variants in ANGPTL3 with lipid levels and with coronary artery disease in 13,102 case patients and 40,430 controls from the DiscovEHR study, with follow-up studies involving 23,317 case patients and 107,166 controls from four population studies. We also tested the effects of a human monoclonal antibody, evinacumab, against Angptl3 in dyslipidemic mice and against ANGPTL3 in healthy human volunteers with elevated levels of triglycerides or LDL cholesterol.ResultsIn the DiscovEHR study, participants with heterozygous loss-of-function variants in ANGPTL3 had significantly lower serum levels of triglycerides, HDL cholesterol, and LDL cholesterol than participants without these variants. Loss-of-function variants were found in 0.33% of case patients with coronary artery disease and in 0.45% of controls (adjusted odds ratio, 0.59; 95% confidence interval, 0.41 to 0.85; P=0.004). These results were confirmed in the follow-up studies. In dyslipidemic mice, inhibition of Angptl3 with evinacumab resulted in a greater decrease in atherosclerotic lesion area and necrotic content than a control antibody. In humans, evinacumab caused a dose-dependent placebo-adjusted reduction in fasting triglyceride levels of up to 76% and LDL cholesterol levels of up to 23%.ConclusionsGenetic and therapeutic antagonism of ANGPTL3 in humans and of Angptl3 in mice was associated with decreased levels of all three major lipid fractions and decreased odds of atherosclerotic cardiovascular disease. (Funded by Regeneron Pharmaceuticals and others; ClinicalTrials.gov number, NCT01749878 .).

Published
2017

16. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

Author

Howson, Joanna MM, Zhao, Wei, Barnes, Daniel R, Ho, Weang-Kee, Young, Robin, Paul, Dirk S, Waite, Lindsay L, Freitag, Daniel F, Fauman, Eric B, Salfati, Elias L, Sun, Benjamin B, Eicher, John D, Johnson, Andrew D, Sheu, Wayne HH, Nielsen, Sune F, Lin, Wei-Yu, Surendran, Praveen, Malarstig, Anders, Wilk, Jemma B, Tybjærg-Hansen, Anne, Rasmussen, Katrine L, Kamstrup, Pia R, Deloukas, Panos, Erdmann, Jeanette, Kathiresan, Sekar, Samani, Nilesh J, Schunkert, Heribert, Watkins, Hugh, Do, Ron, Rader, Daniel J, Johnson, Julie A, Hazen, Stanley L, Quyyumi, Arshed A, Spertus, John A, Pepine, Carl J, Franceschini, Nora, Justice, Anne, Reiner, Alex P, Buyske, Steven, Hindorff, Lucia A, Carty, Cara L, North, Kari E, Kooperberg, Charles, Boerwinkle, Eric, Young, Kristin, Graff, Mariaelisa, Peters, Ulrike, Absher, Devin, Hsiung, Chao A, Lee, Wen-Jane, Taylor, Kent D, Chen, Ying-Hsiang, Lee, I-Te, Guo, Xiuqing, Chung, Ren-Hua, Hung, Yi-Jen, Rotter, Jerome I, Juang, Jyh-Ming J, Quertermous, Thomas, Wang, Tzung-Dau, Rasheed, Asif, Frossard, Philippe, Alam, Dewan S, Majumder, Abdulla al Shafi, Di Angelantonio, Emanuele, Chowdhury, Rajiv, Chen, Yii-Der Ida, Nordestgaard, Børge G, Assimes, Themistocles L, Danesh, John, Butterworth, Adam S, and Saleheen, Danish

Subjects
Biological Sciences, Genetics, Atherosclerosis, Cardiovascular, Human Genome, Heart Disease, Heart Disease - Coronary Heart Disease, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Arteries, Cell Adhesion, Chemotaxis, Leukocyte, Coronary Artery Disease, Energy Metabolism, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Histone Code, Humans, Male, Muscle, Smooth, Vascular, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk Factors, CARDIoGRAMplusC4D, EPIC-CVD, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Although 58 genomic regions have been associated with CAD thus far, most of the heritability is unexplained, indicating that additional susceptibility loci await identification. An efficient discovery strategy may be larger-scale evaluation of promising associations suggested by genome-wide association studies (GWAS). Hence, we genotyped 56,309 participants using a targeted gene array derived from earlier GWAS results and performed meta-analysis of results with 194,427 participants previously genotyped, totaling 88,192 CAD cases and 162,544 controls. We identified 25 new SNP-CAD associations (P < 5 × 10-8, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315). Correlation of these regions with cell-type-specific gene expression and plasma protein levels sheds light on potential disease mechanisms.

Published
2017

17. Epigenetic Regulation of F2RL3 Associates with Myocardial Infarction and Platelet Function

Author

Corbin, Laura J., White, Stephen J., Taylor, Amy E., Williams, Christopher M., Taylor, Kurt, van den Bosch, Marion T., Teasdale, Jack E., Jones, Matthew, Bond, Mark, Harper, Matthew T., Falk, Louise, Groom, Alix, Hazell, Georgina G J, Paternoster, Lavinia, Munafò, Marcus R., Nordestgaard, Børge G., Tybjærg-Hansen, Anne, Bojesen, Stig E., Relton, Caroline, Min, Josine L., Smith, George Davey, Mumford, Andrew D., Poole, Alastair W., and Timpson, Nicholas J.

Published
2022
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18. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie

Published
2022
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19. Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

Author

Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T., Meier, Roger, Rimbert, Antoine, Futema, Marta, Khalil, Yara Abou, Norrelykke, Simon F., Rzepiela, Andrzej J., Stoma, Szymon, Stebler, Michael, van Dijk, Freerk, Wijers, Melinde, Wolters, Justina C., Dalila, Nawar, Huijkman, Nicolette C. A., Smit, Marieke, Gallo, Antonio, Carreau, Valérie, Philippi, Anne, Rabès, Jean- Pierre, Boileau, Catherine, Visentin, Michele, Vonghia, Luisa, Weyler, Jonas, Francque, Sven, Verrijken, An, Verhaegen, Ann, Van Gaal, Luc, van der Graaf, Adriaan, van Rosmalen, Belle V., Robert, Jerome, Velagapudi, Srividya, Yalcinkaya, Mustafa, Keel, Michaela, Radosavljevic, Silvija, Geier, Andreas, Tybjaerg-Hansen, Anne, Varret, Mathilde, Rohrer, Lucia, Humphries, Steve E., Staels, Bart, van de Sluis, Bart, Kuivenhoven, Jan Albert, and von Eckardstein, Arnold

Published
2021
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20. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author

de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J., Álvarez, Victoria, Lleó, Alberto, Real, Luis M., Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D., Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M., Mather, Karen A., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A., Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M., Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J., and Ruiz, Agustín

Published
2021
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24. Women, lipids, and atherosclerotic cardiovascular disease: a call to action from the European Atherosclerosis Society

Author

Roeters van Lennep, Jeanine E, primary, Tokgözoğlu, Lale S, additional, Badimon, Lina, additional, Dumanski, Sandra M, additional, Gulati, Martha, additional, Hess, Connie N, additional, Holven, Kirsten B, additional, Kavousi, Maryam, additional, Kayıkçıoğlu, Meral, additional, Lutgens, Esther, additional, Michos, Erin D, additional, Prescott, Eva, additional, Stock, Jane K, additional, Tybjaerg-Hansen, Anne, additional, Wermer, Marieke J H, additional, and Benn, Marianne, additional

Published
2023
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26. Statin Eligibility for Primary Prevention of Cardiovascular Disease According to 2021 European Prevention Guidelines Compared With Other International Guidelines

Author

Mortensen, Martin Bødtker, Tybjærg-Hansen, Anne, and Nordestgaard, Børge G

Subjects
10-YEAR RISK, RISK THRESHOLDS, American Heart Association, AMERICAN-COLLEGE, Atherosclerosis, THERAPY, VALIDATION, United States, Cohort Studies, Primary Prevention, CLINICAL-PRACTICE, Cardiovascular Diseases, SCORE, Humans, ASSOCIATION TASK-FORCE, SOCIETIES, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Cardiology and Cardiovascular Medicine, Original Investigation
Abstract

Importance: For primary prevention of atherosclerotic cardiovascular disease (ASCVD), the 2021 European Society of Cardiology (ESC) guidelines on statin use (hereafter European-ESC) recommend a new risk model (Systematic Coronary Risk Evaluation 2 [European-SCORE2]) as well as new age-specific treatment thresholds (≥7.5% 10-year ASCVD risk if aged 40-49 years and ≥10% if aged 50-69 years).Objective: To compare the clinical performance of the 2021 European-ESC, American College of Cardiology/American Heart Association (hereafter US-ACC/AHA), UK National Institute for Health and Care Excellence (UK-NICE), and 2019 ESC/European Atherosclerosis Society (EAS) guidelines in apparently healthy individuals.Design, Setting, and Participants: This population-based contemporary cohort study included 66 909 individuals from the Copenhagen General Population Study. Participants were aged 40 to 69 years and were free of ASCVD, diabetes, chronic kidney disease, and statin use at baseline in 2003 to 2015. Mean follow-up time was 9.2 years. Data were analyzed from November 2021 to April 2022.Exposures: Statin treatment according to guideline criteria.Main Outcomes and Measures: Calibration of risk calculators, statin eligibility, sensitivity, and specificity for ASCVD events according to guideline criteria.Results: During follow-up, a range of 2962 to 4277 nonfatal and fatal ASCVD events was observed, as defined by the 2021 European-SCORE2, US pooled cohort equations (PCE), and UK-QRISK3 models, and 180 fatal ASCVD events were noted as defined by the 2019 European-SCORE1 model. European-SCORE2 was slightly better calibrated with a predicted/observed ASCVD event ratio of 0.8 vs 1.3 for US-PCE, 1.3 for UK-QRISK3, and 5.8 for European-SCORE1. For primary prevention class I recommendations in individuals aged 40 to 69 years, 2862 of 66 909 (4%) qualified for statins according to the 2021 European-ESC guidelines compared with 23 029 (34%) with US-ACC/AHA, 17 659 (26%) with UK-NICE, and 13 496 (20%) with 2019 European-ESC/EAS guidelines, with associated sensitivities for detecting future European-SCORE2-defined ASCVD events of 12%, 60%, 51%, and 36%, respectively. The sensitivity of the European-ESC guidelines was improved considerably by lowering the treatment thresholds, resulting in smaller losses in specificity. To obtain similar clinical performance with the 2021 European-ESC guidelines as in the other guidelines, the threshold with European-SCORE2 should be reduced to 5% overall to match US-ACC/AHA, to 6% to match UK-NICE, and to 7% to match 2019 European-ESC/EAS guidelines.Conclusions and Relevance: Despite an improved European-SCORE2 prediction model, the new treatment thresholds in the 2021 European-ESC guidelines dramatically reduce eligibility for primary prevention with statins in low-risk European countries. Using lower treatment thresholds can improve overall guideline performance.

Published
2023

28. A common allele on chromosome 9 associated with coronary heart disease

Author

McPherson, Ruth, Pertsemlidis, Alexander, Kavaslar, Nihan, Stewart, Alexandre, Roberts, Robert, Cox, David R., Hinds, David, Pennachio, Len, Tybjaerg-Hansen, Anne, Folsom, Aaron R., Boerwinkle, Eric, Hobbs, Helen H., and Cohen, Jonathan C.

Subjects
Applied life sciences
Published
2007

32. The selective peroxisome proliferator-activated receptor alpha modulator (SPPARMα) paradigm: conceptual framework and therapeutic potential: A consensus statement from the International Atherosclerosis Society (IAS) and the Residual Risk Reduction Initiative (R3i) Foundation

Author

Fruchart, Jean-Charles, Santos, Raul D., Aguilar-Salinas, Carlos, Aikawa, Masanori, Al Rasadi, Khalid, Amarenco, Pierre, Barter, Philip J., Ceska, Richard, Corsini, Alberto, Després, Jean-Pierre, Duriez, Patrick, Eckel, Robert H., Ezhov, Marat V., Farnier, Michel, Ginsberg, Henry N., Hermans, Michel P., Ishibashi, Shun, Karpe, Fredrik, Kodama, Tatsuhiko, Koenig, Wolfgang, Krempf, Michel, Lim, Soo, Lorenzatti, Alberto J., McPherson, Ruth, Nuñez-Cortes, Jesus Millan, Nordestgaard, Børge G., Ogawa, Hisao, Packard, Chris J., Plutzky, Jorge, Ponte-Negretti, Carlos I., Pradhan, Aruna, Ray, Kausik K., Reiner, Željko, Ridker, Paul M., Ruscica, Massimiliano, Sadikot, Shaukat, Shimano, Hitoshi, Sritara, Piyamitr, Stock, Jane K., Su, Ta-Chen, Susekov, Andrey V., Tartar, André, Taskinen, Marja-Riitta, Tenenbaum, Alexander, Tokgözoğlu, Lale S., Tomlinson, Brian, Tybjærg-Hansen, Anne, Valensi, Paul, Vrablík, Michal, Wahli, Walter, Watts, Gerald F., Yamashita, Shizuya, Yokote, Koutaro, Zambon, Alberto, and Libby, Peter

Published
2019
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33. Mild-to-Moderate Kidney Dysfunction and Cardiovascular Disease: Observational and Mendelian Randomization Analyses

Author

Gaziano, Liam, primary, Sun, Luanluan, additional, Arnold, Matthew, additional, Bell, Steven, additional, Cho, Kelly, additional, Kaptoge, Stephen K., additional, Song, Rebecca J., additional, Burgess, Stephen, additional, Posner, Daniel C., additional, Mosconi, Katja, additional, Robinson-Cohen, Cassianne, additional, Mason, Amy M., additional, Bolton, Thomas R., additional, Tao, Ran, additional, Allara, Elias, additional, Schubert, Petra, additional, Chen, Lingyan, additional, Staley, James R., additional, Staplin, Natalie, additional, Altay, Servet, additional, Amiano, Pilar, additional, Arndt, Volker, additional, Ärnlöv, Johan, additional, Barr, Elizabeth L.M., additional, Björkelund, Cecilia, additional, Boer, Jolanda M.A., additional, Brenner, Hermann, additional, Casiglia, Edoardo, additional, Chiodini, Paolo, additional, Cooper, Jackie A., additional, Coresh, Josef, additional, Cushman, Mary, additional, Dankner, Rachel, additional, Davidson, Karina W., additional, de Jongh, Renate T., additional, Donfrancesco, Chiara, additional, Engström, Gunnar, additional, Freisling, Heinz, additional, de la Cámara, Agustín Gómez, additional, Gudnason, Vilmundur, additional, Hankey, Graeme J., additional, Hansson, Per-Olof, additional, Heath, Alicia K., additional, Hoorn, Ewout J., additional, Imano, Hironori, additional, Jassal, Simerjot K., additional, Kaaks, Rudolf, additional, Katzke, Verena, additional, Kauhanen, Jussi, additional, Kiechl, Stefan, additional, Koenig, Wolfgang, additional, Kronmal, Richard A., additional, Kyrø, Cecilie, additional, Lawlor, Deborah A., additional, Ljungberg, Börje, additional, MacDonald, Conor, additional, Masala, Giovanna, additional, Meisinger, Christa, additional, Melander, Olle, additional, Moreno Iribas, Conchi, additional, Ninomiya, Toshiharu, additional, Nitsch, Dorothea, additional, Nordestgaard, Børge G., additional, Onland-Moret, Charlotte, additional, Palmieri, Luigi, additional, Petrova, Dafina, additional, Garcia, Jose Ramón Quirós, additional, Rosengren, Annika, additional, Sacerdote, Carlotta, additional, Sakurai, Masaru, additional, Santiuste, Carmen, additional, Schulze, Matthias B., additional, Sieri, Sabina, additional, Sundström, Johan, additional, Tikhonoff, Valérie, additional, Tjønneland, Anne, additional, Tong, Tammy, additional, Tumino, Rosario, additional, Tzoulaki, Ioanna, additional, van der Schouw, Yvonne T., additional, Monique Verschuren, W.M., additional, Völzke, Henry, additional, Wallace, Robert B., additional, Wannamethee, S. Goya, additional, Weiderpass, Elisabete, additional, Willeit, Peter, additional, Woodward, Mark, additional, Yamagishi, Kazumasa, additional, Zamora-Ros, Raul, additional, Akwo, Elvis A., additional, Pyarajan, Saiju, additional, Gagnon, David R., additional, Tsao, Philip S., additional, Muralidhar, Sumitra, additional, Edwards, Todd L., additional, Damrauer, Scott M., additional, Joseph, Jacob, additional, Pennells, Lisa, additional, Wilson, Peter W.F., additional, Harrison, Seamus, additional, Gaziano, Thomas A., additional, Inouye, Michael, additional, Baigent, Colin, additional, Casas, Juan P., additional, Langenberg, Claudia, additional, Wareham, Nick, additional, Riboli, Elio, additional, Gaziano, J.Michael, additional, Danesh, John, additional, Hung, Adriana M., additional, Butterworth, Adam S., additional, Wood, Angela M., additional, Di Angelantonio, Emanuele, additional, Koettgen, Anna, additional, Shaw, Jonathan, additional, Atkins, Robert, additional, Zimmet, Paul, additional, Whincup, Peter, additional, Willeit, Johann, additional, Leitner, Christoph, additional, Tybjaerg-Hansen, Anne, additional, Schnohr, Peter, additional, Afzal, Shoaib, additional, Pablos, David Lora, additional, Arriscado, Cristina Martin, additional, Ferreiro, Carmen Romero, additional, Stocker, Hannah, additional, Schöttker, Ben, additional, Holleczek, Bernd, additional, Chetrit, Angela, additional, Welin, Lennart, additional, Svärdsudd, Kurt, additional, Lissner, Lauren, additional, Hange, Dominique, additional, Mehlig, Kirsten, additional, Nagel, Dorothea, additional, Norman, Paul E., additional, Almeida, Osvaldo, additional, Flicker, Leon, additional, Hata, Jun, additional, Honda, Takanori, additional, Furuta, Yoshihiko, additional, Iso, Hiroyasu, additional, Kitamura, Akihiko, additional, Muraki, Isao, additional, Salonen, Jukka T., additional, Tuomainen, Tomi-Pekka, additional, van Zutphen, E. M., additional, van Schoor, N. M., additional, Lo Noce, Cinzia, additional, Kronmal, Richard, additional, Lappas, Georg, additional, Nilsson, Peter M., additional, Hedblad, Bo, additional, Shaffer, Jonathan, additional, Schwartz, Joseph, additional, Shimbo, Daichi, additional, Sato, Shinichi, additional, Hayama-Terada, Mina, additional, Jassal, Simerjot, additional, Aspelund, Thor, additional, Thorsson, Bolli, additional, Sigurdsson, Gunnar, additional, Chaker, Layal, additional, Ikram, Kamran M., additional, Kavousi, Maryam, additional, Tunstall-Pedoe, Hugh, additional, Can, Günay, additional, Yüksel, Hüsniye, additional, Özkan, Uğur, additional, Nakagawa, Hideaki, additional, Morikawa, Yuko, additional, Ishizaki, Masao, additional, Feskens, Edith, additional, Geleijnse, Johanna M, additional, and Kromhout, Daan, additional

Published
2022
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35. Variants in theGPR146Gene Are Associated With a Favorable Cardiometabolic Risk Profile

Author

Rimbert, Antoine, primary, Yeung, Ming W., additional, Dalila, Nawar, additional, Thio, Chris H.L., additional, Yu, Haojie, additional, Loaiza, Natalia, additional, Oldoni, Federico, additional, van der Graaf, Adriaan, additional, Wang, Siqi, additional, Said, M. Abdullah, additional, Blauw, Lisanne L., additional, Girardeau, Aurore, additional, Bray, Lise, additional, Caillaud, Amandine, additional, Bloks, Vincent W., additional, Marrec, Marie, additional, Moulin, Philippe, additional, Rensen, Patrick C.N., additional, van de Sluis, Bart, additional, Snieder, Harold, additional, Di Filippo, Mathilde, additional, van der Harst, Pim, additional, Tybjaerg-Hansen, Anne, additional, Zimmerman, Philip, additional, Cariou, Bertrand, additional, and Kuivenhoven, Jan Albert, additional

Published
2022
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36. Absolute 10-year risk of dementia by age, sex and APOE genotype: a population-based cohort study

Author

Rasmussen, Katrine L., Tybjaerg-Hansen, Anne, Nordestgaard, Borge G., and Frikke-Schmidt, Ruth

Subjects
Disease age factors -- Research, Dementia -- Risk factors -- Genetic aspects, Medical research, Apolipoproteins -- Health aspects -- Physiological aspects, Disease sex factors -- Research, Health
Abstract

BACKGROUND: Dementia is a major cause of disability, and risk-factor reduction may have the potential to delay or prevent the disease. Our aim was to determine the absolute 10-year risk of dementia, by age, sex and apolipoprotein E (APOE) genotype. METHODS: We obtained data from the Copenhagen General Population Study (from 2003 to 2014) and the Copenhagen City Heart Study (from 1991 to 1994 and 2001 to 2003). Participants underwent a questionnaire, physical examination and blood sampling at baseline. Diagnoses of dementia and cerebrovascular disease were obtained from the Danish National Patient Registry up to Nov. 10, 2014. RESULTS: Among 104 537 individuals, the absolute 10-year risk of Alzheimer disease in 3017 women and men who were carriers of the APOE [epsilon]44 genotype was, respectively, 7% and 6% at age 60-69 years, 16% and 12% at age 70-79 years, and 24% and 19% at age 80 years and older. Corresponding values for all dementia were 10% and 8%, 22% and 19%, and 38% and 33%, respectively. Adjusted hazard ratios (HRs) for all dementia increased by genotype, from genotype [epsilon]22 to [epsilon]32 to [epsilon]33 to [epsilon]42 to [epsilon]43 to [epsilon]44 (p for trend INTERPRETATION: Age, sex and APOE genotype robustly identify high-risk groups for Alzheimer disease and all dementia. These groups can potentially be targeted for preventive interventions., Dementia is a major cause of disability in later life, and the global prevalence is increasing, especially in low- and middle-income countries. (1,2) Reduction of risk factors for dementia may [...]

Published
2018
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39. Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor–Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans

Author

Oldoni, Federico, van Capelleveen, Julian C., Dalila, Nawar, Wolters, Justina C., Heeren, Joerg, Sinke, Richard J., Hui, David Y., Dallinga-Thie, Geesje M., Frikke-Schmidt, Ruth, Hovingh, Kees G., van de Sluis, Bart, Tybjærg-Hansen, Anne, and Kuivenhoven, Jan Albert

Published
2018
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47. Secretory Phospholipase A2-IIA and Cardiovascular Disease: A Mendelian Randomization Study

Author

Holmes, Michael V., Simon, Tabassome, Exeter, Holly J., Folkersen, Lasse, Asselbergs, Folkert W., Guardiola, Montse, Cooper, Jackie A., Palmen, Jutta, Hubacek, Jaroslav A., Carruthers, Kathryn F., Horne, Benjamin D., Brunisholz, Kimberly D., Mega, Jessica L., van Iperen, Erik P.A., Li, Mingyao, Leusink, Maarten, Trompet, Stella, Verschuren, Jeffrey J.W., Hovingh, G. Kees, Dehghan, Abbas, Nelson, Christopher P., Kotti, Salma, Danchin, Nicolas, Scholz, Markus, Haase, Christiane L., Rothenbacher, Dietrich, Swerdlow, Daniel I., Kuchenbaecker, Karoline B., Staines-Urias, Eleonora, Goel, Anuj, van 't Hooft, Ferdinand, Gertow, Karl, de Faire, Ulf, Panayiotou, Andrie G., Tremoli, Elena, Baldassarre, Damiano, Veglia, Fabrizio, Holdt, Lesca M., Beutner, Frank, Gansevoort, Ron T., Navis, Gerjan J., Mateo Leach, Irene, Breitling, Lutz P., Brenner, Hermann, Thiery, Joachim, Dallmeier, Dhayana, Franco-Cereceda, Anders, Boer, Jolanda M.A., Stephens, Jeffrey W., Hofker, Marten H., Tedgui, Alain, Hofman, Albert, Uitterlinden, André G., Adamkova, Vera, Pitha, Jan, Onland-Moret, N. Charlotte, Cramer, Maarten J., Nathoe, Hendrik M., Spiering, Wilko, Klungel, Olaf H., Kumari, Meena, Whincup, Peter H., Morrow, David A., Braund, Peter S., Hall, Alistair S., Olsson, Anders G., Doevendans, Pieter A., Trip, Mieke D., Tobin, Martin D., Hamsten, Anders, Watkins, Hugh, Koenig, Wolfgang, Nicolaides, Andrew N., Teupser, Daniel, Day, Ian N.M., Carlquist, John F., Gaunt, Tom R., Ford, Ian, Sattar, Naveed, Tsimikas, Sotirios, Schwartz, Gregory G., Lawlor, Debbie A., Morris, Richard W., Sandhu, Manjinder S., Poledne, Rudolf, Maitland-van der Zee, Anke H., Khaw, Kay-Tee, Keating, Brendan J., van der Harst, Pim, Price, Jackie F., Mehta, Shamir R., Yusuf, Salim, Witteman, Jaqueline C.M., Franco, Oscar H., Jukema, J. Wouter, de Knijff, Peter, Tybjaerg-Hansen, Anne, Rader, Daniel J., Farrall, Martin, Samani, Nilesh J., Kivimaki, Mika, Fox, Keith A.A., Humphries, Steve E., Anderson, Jeffrey L., Boekholdt, S. Matthijs, Palmer, Tom M., Eriksson, Per, Paré, Guillaume, Hingorani, Aroon D., Sabatine, Marc S., Mallat, Ziad, Casas, Juan P., and Talmud, Philippa J.

Published
2013
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50. Rare and low-frequency coding variants alter human adult height

Author

Marouli, Eirini, Graff, Mariaelisa, Medina-Gomez, Carolina, Lo, Ken Sin, Wood, Andrew R., Kjaer, Troels R., Fine, Rebecca S., Lu, Yingchang, Schurmann, Claudia, Highland, Heather M., Rüeger, Sina, Thorleifsson, Gudmar, Justice, Anne E., Lamparter, David, Stirrups, Kathleen E., Turcot, Valérie, Young, Kristin L., Winkler, Thomas W., Esko, Tõnu, Karaderi, Tugce, Locke, Adam E., Masca, Nicholas G. D., Ng, Maggie C. Y., Mudgal, Poorva, Rivas, Manuel A., Vedantam, Sailaja, Mahajan, Anubha, Guo, Xiuqing, Abecasis, Goncalo, Aben, Katja K., Adair, Linda S., Alam, Dewan S., Albrecht, Eva, Allin, Kristine H., Allison, Matthew, Amouyel, Philippe, Appel, Emil V., Arveiler, Dominique, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Banas, Bernhard, Bang, Lia E., Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bonnycastle, Lori L., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Burt, Amber A., Butterworth, Adam S., Carey, David J., Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Cuellar-Partida, Gabriel, Danesh, John, Davies, Gail, de Bakker, Paul I. W., de Borst, Gert J., de Denus, Simon, de Groot, Mark C. H., de Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., den Hollander, Anneke I., Dennis, Joe G., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dunning, Alison M., Easton, Douglas F., Ebeling, Tapani, Edwards, Todd L., Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Faul, Jessica D., Feitosa, Mary F., Feng, Shuang, Ferrannini, Ele, Ferrario, Marco M., Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franks, Paul W., Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Giri, Ayush, Girotto, Giorgia, Gordon, Scott D., Gordon-Larsen, Penny, Gorski, Mathias, Grarup, Niels, Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Hayward, Caroline, He, Liang, Heid, Iris M., Heikkilä, Kauko, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L., Hovingh, Kees G., Howson, Joanna M. M., Hoyng, Carel B., Huang, Paul L., Hveem, Kristian, Ikram, Arfan M., Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jhun, Min A., Jia, Yucheng, Jiang, Xuejuan, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jousilahti, Pekka, Jukema, Wouter J., Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Keeman, Renske, Kiemeney, Lambertus A., Kitajima, Hidetoshi, Kluivers, Kirsten B., Kocher, Thomas, Komulainen, Pirjo, Kontto, Jukka, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kriebel, Jennifer, Kuivaniemi, Helena, Küry, Sébastien, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lakka, Timo A., Lange, Ethan M., Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Larson, Eric B., Lee, I-Te, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Yeheng, Liu, Yongmei, Lophatananon, Artitaya, Luan, Jianʼan, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Mackey, David A., Madden, Pamela A. F., Manning, Alisa K., Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Martin, Nicholas G., Mazul, Angela L., Meidtner, Karina, Metspalu, Andres, Mitchell, Paul, Mohlke, Karen L., Mook-Kanamori, Dennis O., Morgan, Anna, Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Ntalla, Ioanna, OʼConnel, Jeffrey R., Oksa, Heikki, Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Person, Thomas N., Pirie, Ailith, Polasek, Ozren, Posthuma, Danielle, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Ridker, Paul M., Rioux, John D., Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sandow, Kevin, Sapkota, Yadav, Sattar, Naveed, Schmidt, Marjanka K., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati, Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert Vernon, Smith, Jennifer A., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Steinthorsdottir, Valgerdur, Stringham, Heather M., Stumvoll, Michael, Surendran, Praveen, Hart, Leen M.ʼt, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Ulivi, Sheila, van der Laan, Sander W., Van Der Leij, Andries R., van Duijn, Cornelia M., van Schoor, Natasja M., van Setten, Jessica, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Vozzi, Diego, Walker, Mark, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Wareham, Nicholas J., Warren, Helen R., Wessel, Jennifer, Willems, Sara M., Wilson, James G., Witte, Daniel R., Woods, Michael O., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zheng, He, Zhou, Wei, Rotter, Jerome I, Boehnke, Michael, Kathiresan, Sekar, McCarthy, Mark I., Willer, Cristen J., Stefansson, Kari, Borecki, Ingrid B., Liu, Dajiang J., North, Kari E., Heard-Costa, Nancy L., Pers, Tune H., Lindgren, Cecilia M., Oxvig, Claus, Kutalik, Zoltán, Rivadeneira, Fernando, Loos, Ruth J. F., Frayling, Timothy M., Hirschhorn, Joel N., Deloukas, Panos, and Lettre, Guillaume

Published
2017
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