38 results on '"Fernandez-Tajes, Juan"'
Search Results
2. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
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Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, and Zheng, Wei
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- 2024
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3. A set of circulating microRNAs belonging to the 14q32 chromosome locus identifies two subgroups of individuals with recent-onset type 1 diabetes
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Sebastiani, Guido, Grieco, Giuseppina Emanuela, Bruttini, Marco, Auddino, Stefano, Mori, Alessia, Toniolli, Mattia, Fignani, Daniela, Licata, Giada, Aiello, Elena, Nigi, Laura, Formichi, Caterina, Fernandez-Tajes, Juan, Pugliese, Alberto, Evans-Molina, Carmella, Overbergh, Lut, Tree, Timothy, Peakman, Mark, Mathieu, Chantal, and Dotta, Francesco
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- 2024
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4. Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
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Brown, Andrew A., Fernandez-Tajes, Juan J., Hong, Mun-gwan, Brorsson, Caroline A., Koivula, Robert W., Davtian, David, Dupuis, Théo, Sartori, Ambra, Michalettou, Theodora-Dafni, Forgie, Ian M., Adam, Jonathan, Allin, Kristine H., Caiazzo, Robert, Cederberg, Henna, De Masi, Federico, Elders, Petra J. M., Giordano, Giuseppe N., Haid, Mark, Hansen, Torben, Hansen, Tue H., Hattersley, Andrew T., Heggie, Alison J., Howald, Cédric, Jones, Angus G., Kokkola, Tarja, Laakso, Markku, Mahajan, Anubha, Mari, Andrea, McDonald, Timothy J., McEvoy, Donna, Mourby, Miranda, Musholt, Petra B., Nilsson, Birgitte, Pattou, Francois, Penet, Deborah, Raverdy, Violeta, Ridderstråle, Martin, Romano, Luciana, Rutters, Femke, Sharma, Sapna, Teare, Harriet, ‘t Hart, Leen, Tsirigos, Konstantinos D., Vangipurapu, Jagadish, Vestergaard, Henrik, Brunak, Søren, Franks, Paul W., Frost, Gary, Grallert, Harald, Jablonka, Bernd, McCarthy, Mark I., Pavo, Imre, Pedersen, Oluf, Ruetten, Hartmut, Walker, Mark, Adamski, Jerzy, Schwenk, Jochen M., Pearson, Ewan R., Dermitzakis, Emmanouil T., and Viñuela, Ana
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- 2023
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5. A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
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Coral, Daniel E., Fernandez-Tajes, Juan, Tsereteli, Neli, Pomares-Millan, Hugo, Fitipaldi, Hugo, Mutie, Pascal M., Atabaki-Pasdar, Naeimeh, Kalamajski, Sebastian, Poveda, Alaitz, Miller-Fleming, Tyne W., Zhong, Xue, Giordano, Giuseppe N., Pearson, Ewan R., Cox, Nancy J., and Franks, Paul W.
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- 2023
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6. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
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Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, and Peters, Ulrike
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- 2023
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7. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
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Warrington, Nicole M, Beaumont, Robin N, Horikoshi, Momoko, Day, Felix R, Helgeland, Øyvind, Laurin, Charles, Bacelis, Jonas, Peng, Shouneng, Hao, Ke, Feenstra, Bjarke, Wood, Andrew R, Mahajan, Anubha, Tyrrell, Jessica, Robertson, Neil R, Rayner, N William, Qiao, Zhen, Moen, Gunn-Helen, Vaudel, Marc, Marsit, Carmen J, Chen, Jia, Nodzenski, Michael, Schnurr, Theresia M, Zafarmand, Mohammad H, Bradfield, Jonathan P, Grarup, Niels, Kooijman, Marjolein N, Li-Gao, Ruifang, Geller, Frank, Ahluwalia, Tarunveer S, Paternoster, Lavinia, Rueedi, Rico, Huikari, Ville, Hottenga, Jouke-Jan, Lyytikäinen, Leo-Pekka, Cavadino, Alana, Metrustry, Sarah, Cousminer, Diana L, Wu, Ying, Thiering, Elisabeth, Wang, Carol A, Have, Christian T, Vilor-Tejedor, Natalia, Joshi, Peter K, Painter, Jodie N, Ntalla, Ioanna, Myhre, Ronny, Pitkänen, Niina, van Leeuwen, Elisabeth M, Joro, Raimo, Lagou, Vasiliki, Richmond, Rebecca C, Espinosa, Ana, Barton, Sheila J, Inskip, Hazel M, Holloway, John W, Santa-Marina, Loreto, Estivill, Xavier, Ang, Wei, Marsh, Julie A, Reichetzeder, Christoph, Marullo, Letizia, Hocher, Berthold, Lunetta, Kathryn L, Murabito, Joanne M, Relton, Caroline L, Kogevinas, Manolis, Chatzi, Leda, Allard, Catherine, Bouchard, Luigi, Hivert, Marie-France, Zhang, Ge, Muglia, Louis J, Heikkinen, Jani, Morgen, Camilla S, van Kampen, Antoine HC, van Schaik, Barbera DC, Mentch, Frank D, Langenberg, Claudia, Luan, Jian’an, Scott, Robert A, Zhao, Jing Hua, Hemani, Gibran, Ring, Susan M, Bennett, Amanda J, Gaulton, Kyle J, Fernandez-Tajes, Juan, van Zuydam, Natalie R, Medina-Gomez, Carolina, de Haan, Hugoline G, Rosendaal, Frits R, Kutalik, Zoltán, Marques-Vidal, Pedro, Das, Shikta, Willemsen, Gonneke, Mbarek, Hamdi, Müller-Nurasyid, Martina, Standl, Marie, Appel, Emil VR, Fonvig, Cilius E, and Trier, Caecilie
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Biological Sciences ,Genetics ,Cardiovascular ,Perinatal Period - Conditions Originating in Perinatal Period ,Nutrition ,Prevention ,Preterm ,Low Birth Weight and Health of the Newborn ,Pediatric ,Obesity ,Conditions Affecting the Embryonic and Fetal Periods ,Infant Mortality ,2.1 Biological and endogenous factors ,Aetiology ,Reproductive health and childbirth ,Good Health and Well Being ,Adult ,Birth Weight ,Blood Pressure ,Body Height ,Diabetes Mellitus ,Type 2 ,Female ,Fetal Development ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Heart Diseases ,Humans ,Infant ,Newborn ,Male ,Maternal Inheritance ,Maternal-Fetal Exchange ,Metabolic Diseases ,Models ,Genetic ,Polymorphism ,Single Nucleotide ,Pregnancy ,Risk Factors ,EGG Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
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- 2019
8. Impact of insufficient sleep on dysregulated blood glucose control under standardised meal conditions
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Tsereteli, Neli, Vallat, Raphael, Fernandez-Tajes, Juan, Delahanty, Linda M., Ordovas, Jose M., Drew, David A., Valdes, Ana M., Segata, Nicola, Chan, Andrew T., Wolf, Jonathan, Berry, Sarah E., Walker, Matthew P., Spector, Timothy D., and Franks, Paul W.
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- 2022
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9. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
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Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, and Peters, Ulrike
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- 2023
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10. Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.
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Small, Kerrin, Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia, Wang, Xiao, Simon, Michelle, Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig, Quaye, Lydia, Neville, Matt, Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Viñuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew, Bell, Jordana, Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna, Musunuru, Kiran, Lusis, Aldons, Cox, Roger, Karpe, Fredrik, and McCarthy, Mark
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Adipocytes ,Alleles ,Animals ,Body Composition ,Body Fat Distribution ,Cell Size ,Diabetes Mellitus ,Type 2 ,Enhancer Elements ,Genetic ,Female ,Gene Expression ,Genome-Wide Association Study ,Genomic Imprinting ,Humans ,Kruppel-Like Transcription Factors ,Lipogenesis ,Male ,Mice ,Mice ,Inbred C57BL ,Mice ,Knockout ,Phenotype ,Risk Factors ,Sex Characteristics ,Sp Transcription Factors - Abstract
Individual risk of type 2 diabetes (T2D) is modified by perturbations to the mass, distribution and function of adipose tissue. To investigate the mechanisms underlying these associations, we explored the molecular, cellular and whole-body effects of T2D-associated alleles near KLF14. We show that KLF14 diabetes-risk alleles act in adipose tissue to reduce KLF14 expression and modulate, in trans, the expression of 385 genes. We demonstrate, in human cellular studies, that reduced KLF14 expression increases pre-adipocyte proliferation but disrupts lipogenesis, and in mice, that adipose tissue-specific deletion of Klf14 partially recapitulates the human phenotype of insulin resistance, dyslipidemia and T2D. We show that carriers of the KLF14 T2D risk allele shift body fat from gynoid stores to abdominal stores and display a marked increase in adipocyte cell size, and that these effects on fat distribution, and the T2D association, are female specific. The metabolic risk associated with variation at this imprinted locus depends on the sex both of the subject and of the parent from whom the risk allele derives.
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- 2018
11. The Association of Cardiometabolic, Diet and Lifestyle Parameters With Plasma Glucagon-like Peptide-1: An IMI DIRECT Study
- Author
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Eriksen, Rebeca, White, Margaret C, Dawed, Adem Y, Perez, Isabel Garcia, Posma, Joram M, Haid, Mark, Sharma, Sapna, Prehn, Cornelia, Thomas, E Louise, Koivula, Robert W, Bizzotto, Roberto, Mari, Andrea, Giordano, Giuseppe N, Pavo, Imre, Schwenk, Jochen M, De Masi, Federico, Tsirigos, Konstantinos D, Brunak, Søren, Viñuela, Ana, Mahajan, Anubha, McDonald, Timothy J, Kokkola, Tarja, Rutters, Femke, Beulens, Joline, Muilwijk, Mirthe, Blom, Marieke, Elders, Petra, Hansen, Tue H, Fernandez-Tajes, Juan, Jones, Angus, Jennison, Chris, Walker, Mark, McCarthy, Mark I, Pedersen, Oluf, Ruetten, Hartmut, Forgie, Ian, Holst, Jens J, Thomsen, Henrik S, Ridderstråle, Martin, Bell, Jimmy D, Adamski, Jerzy, Franks, Paul W, Hansen, Torben, Holmes, Elaine, Frost, Gary, and Pearson, Ewan R
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- 2024
- Full Text
- View/download PDF
12. Genome-wide associations for birth weight and correlations with adult disease
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Horikoshi, Momoko, Beaumont, Robin N, Day, Felix R, Warrington, Nicole M, Kooijman, Marjolein N, Fernandez-Tajes, Juan, Feenstra, Bjarke, van Zuydam, Natalie R, Gaulton, Kyle J, Grarup, Niels, Bradfield, Jonathan P, Strachan, David P, Li-Gao, Ruifang, Ahluwalia, Tarunveer S, Kreiner, Eskil, Rueedi, Rico, Lyytikäinen, Leo-Pekka, Cousminer, Diana L, Wu, Ying, Thiering, Elisabeth, Wang, Carol A, Have, Christian T, Hottenga, Jouke-Jan, Vilor-Tejedor, Natalia, Joshi, Peter K, Boh, Eileen Tai Hui, Ntalla, Ioanna, Pitkänen, Niina, Mahajan, Anubha, van Leeuwen, Elisabeth M, Joro, Raimo, Lagou, Vasiliki, Nodzenski, Michael, Diver, Louise A, Zondervan, Krina T, Bustamante, Mariona, Marques-Vidal, Pedro, Mercader, Josep M, Bennett, Amanda J, Rahmioglu, Nilufer, Nyholt, Dale R, Ma, Ronald CW, Tam, Claudia HT, Tam, Wing Hung, Ganesh, Santhi K, van Rooij, Frank JA, Jones, Samuel E, Loh, Po-Ru, Ruth, Katherine S, Tuke, Marcus A, Tyrrell, Jessica, Wood, Andrew R, Yaghootkar, Hanieh, Scholtens, Denise M, Paternoster, Lavinia, Prokopenko, Inga, Kovacs, Peter, Atalay, Mustafa, Willems, Sara M, Panoutsopoulou, Kalliope, Wang, Xu, Carstensen, Lisbeth, Geller, Frank, Schraut, Katharina E, Murcia, Mario, van Beijsterveldt, Catharina EM, Willemsen, Gonneke, Appel, Emil VR, Fonvig, Cilius E, Trier, Caecilie, Tiesler, Carla MT, Standl, Marie, Kutalik, Zoltán, Bonàs-Guarch, Sílvia, Hougaard, David M, Sánchez, Friman, Torrents, David, Waage, Johannes, Hollegaard, Mads V, de Haan, Hugoline G, Rosendaal, Frits R, Medina-Gomez, Carolina, Ring, Susan M, Hemani, Gibran, McMahon, George, Robertson, Neil R, Groves, Christopher J, Langenberg, Claudia, Luan, Jian’an, Scott, Robert A, Zhao, Jing Hua, Mentch, Frank D, MacKenzie, Scott M, Reynolds, Rebecca M, Lowe, William L, Tönjes, Anke, Stumvoll, Michael, Lindi, Virpi, Lakka, Timo A, and van Duijn, Cornelia M
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Nutrition ,Perinatal Period - Conditions Originating in Perinatal Period ,Human Genome ,Genetics ,Clinical Research ,Preterm ,Low Birth Weight and Health of the Newborn ,Obesity ,Prevention ,Pediatric ,Infant Mortality ,2.1 Biological and endogenous factors ,Aetiology ,Adult ,Aging ,Anthropometry ,Birth Weight ,Blood Pressure ,Chromatin Assembly and Disassembly ,Cohort Studies ,Coronary Artery Disease ,Datasets as Topic ,Diabetes Mellitus ,Type 2 ,Female ,Fetus ,Genetic Loci ,Genetic Predisposition to Disease ,Genetic Variation ,Genome-Wide Association Study ,Genomic Imprinting ,Genotype ,Glucose ,Glycogen ,Humans ,Insulin ,Male ,Phenotype ,Signal Transduction ,CHARGE Consortium Hematology Working Group ,Early Growth Genetics (EGG) Consortium ,General Science & Technology - Abstract
Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P
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- 2016
13. A prospective study of the relationships between movement and glycemic control during day and night in pregnancy
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Behravesh, Masoud, Fernandez-Tajes, Juan, Estampador, Angela C., Varga, Tibor V., Gunnarsson, Ómar S., Strevens, Helena, Timpka, Simon, and Franks, Paul W.
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- 2021
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14. REQUITE: A prospective multicentre cohort study of patients undergoing radiotherapy for breast, lung or prostate cancer
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Lievens, Yolande, van Eijkeren, Marc, Vandecasteele, Katrien, Elhamin, Elhaseen, Ost, Piet, Fonteyne, Valérie, Swimberghe, Martijn, Deseyne, Pieter, De Neve, Wilfried, Duprez, Fréderic, Mareel, Marcus, Monten, Chris, Van Greveling, Annick, Vercauteren, Tom, Paelinck, Leen, Defraene, Gilles, Aerts, Rita, Arredouani, Soumia, Lambrecht, Maarten, Vanneste, Ben, Draghici, Roxana, Giordano, Frank, Herskind, Carsten, Veldwijk, Marlon, Helmbold, Irmgard, Giesche, Ulrich, Stegmaier, Petra, Weiß, Christian, Blaschke, Thomas, Neu, Burkhard, Lozza, Laura, Avuzzi, Barbara, Morlino, Sara, Sangalli, Claudia, Franceschini, Marzia, Rodriguez-Lage, Belina, Fernández-Tajes, Juan, Fuentes-Rios, Olivia, Domínguez-Rios, Isabel, Fajardo-Paneque, Irene, Sosa-Fajardo, Paloma, Torrado-Moya, Laura, Ramos-Albiac, Mónica, Giraldo, Alexandra, Altabas, Manolo, Piqué-Leiva, Bibiana, García-Relancio, David, Seoane-Ramallo, Alejandro, Lavers, Samuel, Wright, Simon, Dobbelaere, Hannah, Appleton, Donna, Kaushik, Monika, Kenny, Frances, Khout, Hazem, Krupa, Jaroslaw, Lambert, Kelly V., Pilgrim, Simon, Shokuhi, Sheila, Valassiadou, Kalliope, Aznar-Garcia, Luis, Boiangui, Ion, Kancherla, Kiran, Kent, Christopher, Sampson, Kufre, Osman, Ahmed, Sridhar, Thiagarajan, Vasanthan, Subramaniam, Faivre-Finn, Corinne, Harrop, Victoria, Keni, Manjusha, Foweraker, Karen, Pascoe, Abigail, Esler, Claire, Stock, Richard, Green, Sheryl, Golchin, Ava, Li, William, Seibold, Petra, Webb, Adam, Aguado-Barrera, Miguel E., Azria, David, Bourgier, Celine, Brengues, Muriel, Briers, Erik, Bultijnck, Renée, Calvo-Crespo, Patricia, Carballo, Ana, Choudhury, Ananya, Cicchetti, Alessandro, Claßen, Johannes, Delmastro, Elena, Dunning, Alison M., Elliott, Rebecca M., Fachal, Laura, Farcy-Jacquet, Marie-Pierre, Gabriele, Pietro, Garibaldi, Elisabetta, Gómez-Caamaño, Antonio, Gutiérrez-Enríquez, Sara, Higginson, Daniel S., Johnson, Kerstie, Lobato-Busto, Ramón, Mollà, Meritxell, Müller, Anusha, Payne, Debbie, Peleteiro, Paula, Post, Giselle, Rancati, Tiziana, Rattay, Tim, Reyes, Victoria, Rosenstein, Barry S., De Ruysscher, Dirk, De Santis, Maria Carmen, Schäfer, Jörg, Schnabel, Thomas, Sperk, Elena, Symonds, R. Paul, Stobart, Hilary, Taboada-Valladares, Begoña, Talbot, Christopher J., Valdagni, Riccardo, Vega, Ana, Veldeman, Liv, Ward, Tim, Weißenberger, Christian, West, Catharine M.L., and Chang-Claude, Jenny
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- 2019
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15. Reduced Insulin Production Relieves Endoplasmic Reticulum Stress and Induces β Cell Proliferation
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Szabat, Marta, Page, Melissa M., Panzhinskiy, Evgeniy, Skovsø, Søs, Mojibian, Majid, Fernandez-Tajes, Juan, Bruin, Jennifer E., Bround, Michael J., Lee, Jason T.C., Xu, Eric E., Taghizadeh, Farnaz, O’Dwyer, Shannon, van de Bunt, Martijn, Moon, Kyung-Mee, Sinha, Sunita, Han, Jun, Fan, Yong, Lynn, Francis C., Trucco, Massimo, Borchers, Christoph H., Foster, Leonard J., Nislow, Corey, Kieffer, Timothy J., and Johnson, James D.
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- 2016
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16. Association analyses identify 31 new risk loci for colorectal cancer susceptibility
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Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Broderick, Peter, Studd, James, Fernandez-Tajes, Juan, Farrington, Susan, Svinti, Victoria, Palles, Claire, Orlando, Giulia, Sud, Amit, Holroyd, Amy, Penegar, Steven, Theodoratou, Evropi, Vaughan-Shaw, Peter, Campbell, Harry, Zgaga, Lina, Hayward, Caroline, Campbell, Archie, Harris, Sarah, Deary, Ian J., Starr, John, Gatcombe, Laura, Pinna, Maria, Briggs, Sarah, Martin, Lynn, Jaeger, Emma, Sharma-Oates, Archana, East, James, Leedham, Simon, Arnold, Roland, Johnstone, Elaine, Wang, Haitao, Kerr, David, Kerr, Rachel, Maughan, Tim, Kaplan, Richard, Al-Tassan, Nada, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Buchanan, Daniel D., Win, Aung-Ko, Hopper, John, Jenkins, Mark E., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Duggan, David, Casey, Graham, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Easton, Douglas F., Pharoah, Paul D. P., Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, The PRACTICAL consortium, Harkin, Andrea, Allan, Karen, McQueen, John, Paul, James, Iveson, Timothy, Saunders, Mark, Butterbach, Katja, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Kirac, Iva, Matošević, Petar, Hofer, Philipp, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P., Aaltonen, Lauri A., Tomlinson, Ian, Houlston, Richard S., and Dunlop, Malcolm G.
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- 2019
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17. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
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Fernandez-Rozadilla, Ceres, primary, Timofeeva, Maria, additional, Chen, Zhishan, additional, Law, Philip, additional, Thomas, Minta, additional, Schmit, Stephanie, additional, Díez-Obrero, Virginia, additional, Hsu, Li, additional, Fernandez-Tajes, Juan, additional, Palles, Claire, additional, Sherwood, Kitty, additional, Briggs, Sarah, additional, Svinti, Victoria, additional, Donnelly, Kevin, additional, Farrington, Susan, additional, Blackmur, James, additional, Vaughan-Shaw, Peter, additional, Shu, Xiao-ou, additional, Long, Jirong, additional, Cai, Qiuyin, additional, Guo, Xingyi, additional, Lu, Yingchang, additional, Broderick, Peter, additional, Studd, James, additional, Huyghe, Jeroen, additional, Harrison, Tabitha, additional, Conti, David, additional, Dampier, Christopher, additional, Devall, Mathew, additional, Schumacher, Fredrick, additional, Melas, Marilena, additional, Rennert, Gad, additional, Obón-Santacana, Mireia, additional, Martín-Sánchez, Vicente, additional, Moratalla-Navarro, Ferran, additional, Oh, Jae Hwan, additional, Kim, Jeongseon, additional, Jee, Sun Ha, additional, Jung, Keum Ji, additional, Kweon, Sun-Seog, additional, Shin, Min-Ho, additional, Shin, Aesun, additional, Ahn, Yoon-Ok, additional, Kim, Dong-Hyun, additional, Oze, Isao, additional, Wen, Wanqing, additional, Matsuo, Keitaro, additional, Matsuda, Koichi, additional, Tanikawa, Chizu, additional, Ren, Zefang, additional, Gao, Yu-Tang, additional, Jia, Wei-Hua, additional, Hopper, John, additional, Jenkins, Mark, additional, Win, Aung Ko, additional, Pai, Rish, additional, Figueiredo, Jane, additional, Haile, Robert, additional, Gallinger, Steven, additional, Woods, Michael, additional, Newcomb, Polly, additional, Duggan, David, additional, Cheadle, Jeremy, additional, Kaplan, Richard, additional, Maughan, Timothy, additional, Kerr, Rachel, additional, Kerr, David, additional, Kirac, Iva, additional, Böhm, Jan, additional, Mecklin, Lukka-Pekka, additional, Jousilahti, Pekka, additional, Knekt, Paul, additional, Aaltonen, Lauri, additional, Rissanen, Harri, additional, Pukkala, Eero, additional, Eriksson, Johan, additional, Cajuso, Tatiana, additional, Hänninen, Ulrika, additional, Kondelin, Johanna, additional, Palin, Kimmo, additional, Tanskanen, Tomas, additional, Renkonen-Sinisalo, Laura, additional, Zanke, Brent, additional, Männistö, Satu, additional, Albanes, Demetrius, additional, Weinstein, Stephanie, additional, Ruiz-Narvaez, Edward, additional, Palmer, Julie, additional, Buchanan, Daniel, additional, Platz, Elizabeth, additional, Visvanathan, Kala, additional, Ulrich, Cornelia, additional, Siegel, Erin, additional, Brezina, Stefanie, additional, Gsur, Andrea, additional, Campbell, Peter, additional, Chang-Claude, Jenny, additional, Hoffmeister, Michael, additional, Brenner, Hermann, additional, Slattery, Martha, additional, Potter, John, additional, Tsilidis, Konstantinos, additional, Schulze, Matthias, additional, Gunter, Marc, additional, Murphy, Neil, additional, Castells, Antoni, additional, Castellví-Bel, Sergi, additional, Moreira, Leticia, additional, Arndt, Volker, additional, Shcherbina, Anna, additional, Stern, Mariana, additional, Pardamean, Bens, additional, Bishop, Timothy, additional, Giles, Graham, additional, Southey, Melissa, additional, Idos, Gregory, additional, McDonnell, Kevin, additional, Abu-Ful, Zomoroda, additional, Greenson, Joel, additional, Shulman, Katerina, additional, Lejbkowicz, Flavio, additional, Offit, Kenneth, additional, Su, Yu-Ru, additional, Steinfelder, Robert, additional, Keku, Temitope, additional, van Guelpen, Bethany, additional, Hudson, Thomas, additional, Hampel, Heather, additional, Pearlman, Rachel, additional, Berndt, Sonja, additional, Hayes, Richard, additional, Martinez, Marie Elena, additional, Thomas, Sushma, additional, Corley, Douglas, additional, Pharoah, Paul, additional, Larsson, Susanna, additional, Yen, Yun, additional, Lenz, Heinz-Josef, additional, White, Emily, additional, Li, Li, additional, Doheny, Kimberly, additional, Pugh, Elizabeth, additional, Shelford, Tameka, additional, Chan, Andrew, additional, Cruz-Correa, Marcia, additional, Lindblom, Annika, additional, Hunter, David, additional, Joshi, Amit, additional, Schafmayer, Clemens, additional, Scacheri, Peter, additional, Kundaje, Anshul, additional, Nickerson, Deborah, additional, Schoen, Robert, additional, Hampe, Jochen, additional, Stadler, Zsofia, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Papadopoulos, Nickolas, additional, Edlund, Chistopher, additional, Gauderman, William, additional, Thomas, Duncan, additional, Shibata, David, additional, Toland, Amanda, additional, Markowitz, Sanford, additional, Kim, Andre, additional, Chanock, Stephen, additional, van Duijnhoven, Franzel, additional, Feskens, Edith, additional, Sakoda, Lori, additional, Gago-Dominguez, Manuela, additional, Wolk, Alicja, additional, Naccarati, Alessio, additional, Pardini, Barbara, additional, FitzGerald, Liesel, additional, Lee, Soo Chin, additional, Ogino, Shuji, additional, Bien, Stephanie, additional, Kooperberg, Charles, additional, Li, Christopher, additional, Lin, Yi, additional, Prentice, Ross, additional, Qu, Conghui, additional, Bézieau, Stéphane, additional, Tangen, Catherine, additional, Mardis, Elaine, additional, Yamaji, Taiki, additional, Sawada, Norie, additional, Iwasaki, Motoki, additional, Haiman, Christopher, additional, Le Marchand, Loic, additional, Wu, Anna, additional, Qu, Chenxu, additional, McNeil, Caroline, additional, Coetzee, Gerhard, additional, Hayward, Caroline, additional, Deary, Ian, additional, Harris, Sarah, additional, Theodoratou, Evropi, additional, Reid, Stuart, additional, Walker, Marion, additional, Ooi, Li Yin, additional, Moreno, Victor, additional, Casey, Graham, additional, Gruber, Stephen, additional, Tomlinson, Ian, additional, Zheng, Wei, additional, Dunlop, Malcolm, additional, Houlston, Richard, additional, and Peters, Ulrike, additional
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- 2022
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18. Whole genome sequencing of 2,023 colorectal cancers reveals mutational landscapes, new driver genes and immune interactions
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Tomlinson, Ian, primary, Cornish, Alex, additional, Gruber, Andreas, additional, Houlston, Richard, additional, Sud, Amit, additional, Law, Philip, additional, Lakatos, Eszter, additional, Culliford, Richard, additional, Househam, Jacob, additional, Graham, Trevor, additional, Wood, Henry, additional, Quirke, Philip, additional, Lopez-Bigas, Nuria, additional, Arnedo-Pac, Claudia, additional, Chubb, Daniel, additional, Leathlobhair, Maire Ni, additional, Noyvert, Boris, additional, Kinnersley, Ben, additional, Cross, William, additional, Murugaesu, Nirupa, additional, Sosinsky, Alona, additional, Mitchell, Jonathan, additional, Alexandrov, Ludmil, additional, Zapata, Luis, additional, Fernandez-Tajes, Juan, additional, Thorn, Steve, additional, Sherwood, Kitty, additional, Gul, Guler, additional, Hawari, Aliah, additional, Sottoriva, Andrea, additional, Church, David, additional, Caravagna, Giulio, additional, Wedge, David, additional, and Frangou, Anna, additional
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- 2022
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19. Chromatin specialization in bivalve molluscs: A leap forward for the evaluation of Okadaic Acid genotoxicity in the marine environment
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González-Romero, Rodrigo, Rivera-Casas, Ciro, Fernández-Tajes, Juan, Ausió, Juan, Méndez, Josefina, and Eirín-López, José M.
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- 2012
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20. Impact of insufficient sleep on dysregulated blood glucose control under standardised meal conditions
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Tsereteli, Neli, primary, Vallat, Raphael, additional, Fernandez-Tajes, Juan, additional, Delahanty, Linda M., additional, Ordovas, Jose M., additional, Drew, David A., additional, Valdes, Ana M., additional, Segata, Nicola, additional, Chan, Andrew T., additional, Wolf, Jonathan, additional, Berry, Sarah E., additional, Walker, Matthew P., additional, Spector, Timothy D., additional, and Franks, Paul W., additional
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- 2021
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21. Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
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Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Vinuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.
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- 2018
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22. Table S3
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Behravesh, Masoud, Fernandez-tajes, Juan, Estampador, Angela, Varga, Tibor, Gunnarsson, Ómer, Strevens, Helena, Timpka, Simon, and Franks, Paul
- Abstract
Supplemental table - obs per time of day and weekday
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- 2021
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23. Effect of okadaic acid on carpet shell clam (Ruditapes decussatus) haemocytes by in vitro exposure and harmful algal bloom simulation assays
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Prado-Alvarez, Maria, Flórez-Barrós, Fernanda, Méndez, Josefina, and Fernandez-Tajes, Juan
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- 2013
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24. Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus
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van Zuydam, Natalie R., primary, Ladenvall, Claes, additional, Voight, Benjamin F., additional, Strawbridge, Rona J., additional, Fernandez-Tajes, Juan, additional, Rayner, N. William, additional, Robertson, Neil R., additional, Mahajan, Anubha, additional, Vlachopoulou, Efthymia, additional, Goel, Anuj, additional, Kleber, Marcus E., additional, Nelson, Christopher P., additional, Kwee, Lydia Coulter, additional, Esko, Tõnu, additional, Mihailov, Evelin, additional, Mägi, Reedik, additional, Milani, Lili, additional, Fischer, Krista, additional, Kanoni, Stavroula, additional, Kumar, Jitender, additional, Song, Ci, additional, Hartiala, Jaana A., additional, Pedersen, Nancy L., additional, Perola, Markus, additional, Gieger, Christian, additional, Peters, Annette, additional, Qu, Liming, additional, Willems, Sara M., additional, Doney, Alex S.F., additional, Morris, Andrew D., additional, Zheng, Yan, additional, Sesti, Giorgio, additional, Hu, Frank B., additional, Qi, Lu, additional, Laakso, Markku, additional, Thorsteinsdottir, Unnur, additional, Grallert, Harald, additional, van Duijn, Cornelia, additional, Reilly, Muredach P., additional, Ingelsson, Erik, additional, Deloukas, Panos, additional, Kathiresan, Sek, additional, Metspalu, Andres, additional, Shah, Svati H., additional, Sinisalo, Juha, additional, Salomaa, Veikko, additional, Hamsten, Anders, additional, Samani, Nilesh J., additional, März, Winfried, additional, Hazen, Stanley L., additional, Watkins, Hugh, additional, Saleheen, Danish, additional, Morris, Andrew P., additional, Colhoun, Helen M., additional, Groop, Leif, additional, McCarthy, Mark I., additional, Palmer, Colin N.A., additional, Danesh, John, additional, Erdmann, Jeanette, additional, Gu, Dongfeng, additional, Kooner, Jaspal S., additional, Roberts, Robert, additional, Schunkert, Heribert, additional, Assimes, Themistocles L., additional, Blankenberg, Stefan, additional, Boehm, Bernhard O., additional, Chambers, John C., additional, Clarke, Robert, additional, Collins, Rory, additional, Dedoussis, George, additional, Franks, Paul W., additional, Hovingh, G. Kees, additional, Kim, Bong-Jo, additional, Lehtimäki, Terho, additional, McPherson, Ruth, additional, Nieminen, Markku S, additional, O’Donnell, Christopher, additional, Ripatti, Samuli, additional, Sandhu, Manjinder S, additional, Schreiber, Stefan, additional, Siegbahn, Agneta, additional, Willer, Cristen J., additional, Zalloua, Pierre A., additional, Mark, Michael, additional, Kanninen, Timo, additional, Thorand, Barbara, additional, Remuzzi, Giuseppe, additional, Dunger, David, additional, Shore, Angela, additional, Smith, Ulf, additional, Groop, Per-Henrik, additional, Ylä-Herttuala, Seppo, additional, Cobelli, Claudio, additional, Bellazzi, Riccardo, additional, Ferrannini, Ele, additional, Patrono, Carlo, additional, Nuutila, Pirjo, additional, McKeague, Paul, additional, Steckel-Hamann, Birgit, additional, Gan, Li-ming, additional, Nogoceke, Everson, additional, Tortoli, Piero, additional, Jablonka, Bernd, additional, and Brosnan, Mary-Julia, additional
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- 2020
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25. A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes
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Torres, Jason M., primary, Abdalla, Moustafa, additional, Payne, Anthony, additional, Fernandez-Tajes, Juan, additional, Thurner, Matthias, additional, Nylander, Vibe, additional, Gloyn, Anna L., additional, Mahajan, Anubha, additional, and McCarthy, Mark I., additional
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- 2020
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26. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
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Day, Felix, Karaderi, Tugce, Jones, Michelle R., Meun, Cindy, He, Chunyan, Drong, Alex, Kraft, Peter, Lin, Nan, Huang, Hongyan, Broer, Linda, Magi, Reedik, Saxena, Richa, Laisk, Triin, Urbanek, Margrit, Hayes, M. Geoffrey, Thorleifsson, Gudmar, Fernandez-Tajes, Juan, Mahajan, Anubha, Mullin, Benjamin H., and Stuckey, Bronwyn G. A.
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POLYCYSTIC ovary syndrome ,HYPERANDROGENISM ,INSULIN resistance ,GLUCOSE ,HOMEOSTASIS ,HUMAN genetics - Abstract
Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic criteria, resulting in a phenotypic spectrum of PCOS cases. The genetic similarities between cases diagnosed based on the two criteria have been largely unknown. Previous studies in Chinese and European subjects have identified 16 loci associated with risk of PCOS. We report a fixed-effect, inverse-weighted-variance meta-analysis from 10,074 PCOS cases and 103,164 controls of European ancestry and characterisation of PCOS related traits. We identified 3 novel loci (near PLGRKT, ZBTB16 and MAPRE1), and provide replication of 11 previously reported loci. Only one locus differed significantly in its association by diagnostic criteria; otherwise the genetic architecture was similar between PCOS diagnosed by self-report and PCOS diagnosed by NIH or non-NIH Rotterdam criteria across common variants at 13 loci. Identified variants were associated with hyperandrogenism, gonadotropin regulation and testosterone levels in affected women. Linkage disequilibrium score regression analysis revealed genetic correlations with obesity, fasting insulin, type 2 diabetes, lipid levels and coronary artery disease, indicating shared genetic architecture between metabolic traits and PCOS. Mendelian randomization analyses suggested variants associated with body mass index, fasting insulin, menopause timing, depression and male-pattern balding play a causal role in PCOS. The data thus demonstrate 3 novel loci associated with PCOS and similar genetic architecture for all diagnostic criteria. The data also provide the first genetic evidence for a male phenotype for PCOS and a causal link to depression, a previously hypothesized comorbid disease. Thus, the genetics provide a comprehensive view of PCOS that encompasses multiple diagnostic criteria, gender, reproductive potential and mental health. [ABSTRACT FROM AUTHOR]
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- 2018
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27. Unbiased high-throughput characterization of mussel transcriptomic responses to sublethal concentrations of the biotoxin okadaic acid
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Suarez-Ulloa, Victoria, primary, Fernandez-Tajes, Juan, additional, Aguiar-Pulido, Vanessa, additional, Prego-Faraldo, M. Veronica, additional, Florez-Barros, Fernanda, additional, Sexto-Iglesias, Alexia, additional, Mendez, Josefina, additional, and Eirin-Lopez, Jose M., additional
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- 2015
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28. Effects of okadaic acid on haemocytes from Mytilus galloprovincialis: A comparison between field and laboratory studies
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Prado-Alvarez, Maria, Flórez-Barrós, Fernanda, Sexto-Iglesias, Alexia, Méndez, Josefina, and Fernandez-Tajes, Juan
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- 2012
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29. Regulatory variants at KLF14influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
- Author
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Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Viñuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.
- Abstract
Individual risk of type 2 diabetes (T2D) is modified by perturbations to the mass, distribution and function of adipose tissue. To investigate the mechanisms underlying these associations, we explored the molecular, cellular and whole-body effects of T2D-associated alleles near KLF14. We show that KLF14diabetes-risk alleles act in adipose tissue to reduce KLF14expression and modulate, in trans, the expression of 385 genes. We demonstrate, in human cellular studies, that reduced KLF14expression increases pre-adipocyte proliferation but disrupts lipogenesis, and in mice, that adipose tissue–specific deletion of Klf14partially recapitulates the human phenotype of insulin resistance, dyslipidemia and T2D. We show that carriers of the KLF14T2D risk allele shift body fat from gynoid stores to abdominal stores and display a marked increase in adipocyte cell size, and that these effects on fat distribution, and the T2D association, are female specific. The metabolic risk associated with variation at this imprinted locus depends on the sex both of the subject and of the parent from whom the risk allele derives.
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- 2018
- Full Text
- View/download PDF
30. Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
- Author
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Day, Felix, Karaderi, Tugce, Jones, Michelle R., Meun, Cindy, He, Chunyan, Drong, Alex, Kraft, Peter, Lin, Nan, Huang, Hongyan, Broer, Linda, Magi, Reedik, Saxena, Richa, Laisk, Triin, Urbanek, Margrit, Hayes, M. Geoffrey, Thorleifsson, Gudmar, Fernandez-Tajes, Juan, Mahajan, Anubha, Mullin, Benjamin H., and Stuckey, Bronwyn G. A.
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POLYCYSTIC ovary syndrome ,META-analysis ,INDUCED ovulation - Abstract
Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria Table 2 The 14 genome-wide significant variants associated with PCOS in the meta-analysis. All PCOS meta-analysis, PCOS meta-analysis without self-report, NIH, non-NIH Rotterdam and self-report meta-analysis results. [Extracted from the article]
- Published
- 2019
- Full Text
- View/download PDF
31. 189-OR: Plasma Proteome Profiling of Prediabetes and Diabetes Progression: An IMI Direct Study.
- Author
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HONG, MUN-GWAN, VIÑUELA, ANA, HÄUSSLER, RAGNA S., DALE, MATILDA, KOIVULA, ROBERT W., FERNANDEZ-TAJES, JUAN, MAHAJAN, ANUBHA, BIZZOTTO, ROBERTO, MARI, ANDREA, DERMITZAKIS, EMMANOUIL, MCCARTHY, MARK, FRANKS, PAUL W., PEARSON, EWAN, and SCHWENK, JOCHEN M.
- Abstract
Plasma proteins can provide valuable insights on human health and disease states. Within the framework of the EU IMI project DIRECT (https://www.direct-diabetes.org), we used a set of affinity proteomic methods to profile > 3100 study participants at baseline. Multiplexed assays quantified more than 600 unique proteins in EDTA plasma from this multi-center cohort that included 2300 subjects at risk of developing T2D (HbA
1c ~ 6-6.5%) as well as 800 with early T2D (HbA1c > 6.5%). Using extensive clinical and other omics metadata available, the aim of the investigation was to identify plasma proteins associated with baseline traits. An initial analysis highlighted the importance of considering sample-related and pre-analytical variables as possible confounders in the data analysis. Hence, we used linear mixed models that included several parameters such as age, sex, study center and collection date. Next, we defined proteins associating with any of the >50 quantitative clinical traits at baseline. We found more than 300 proteins in plasma that were associated with diabetes related traits (adjusted p-value < 0.0001), many of which were prominently associated with BMI. The shortlisted candidates included leptin which associates with waist circumference and BMI; IGFBP1 and IGFBP2 to Matsuda; adiponectin to basal insulin secretion rate and fasting HDL; LDL receptor proteins to fasting triglycerides; APOM to fasting cholesterol; or IL8 and MCP-1 to fasting AST. In addition, we performed pQTL analysis to assess any connection between the protein values in plasma and genetic variants. We observed >400 cis-pQTLs (q-value < 0.05), such as for APOM (rs2736163, p = 5.15 e-24 ), which illustrated that many of the studied protein profiles are affected by a genetic component. With follow-up samples collected 3-4 years after starting the study, the baseline values will serve as valuable indicators of progression and allow study of how each participant's disease phenotype changes over time or due to treatment. Disclosure: M. Hong: None. A. Viñuela: None. R.S. Häussler: None. M. Dale: None. R.W. Koivula: None. J. Fernandez-Tajes: None. A. Mahajan: None. R. Bizzotto: Research Support; Self; GlaxoSmithKline plc. A. Mari: Consultant; Self; Eli Lilly and Company. Research Support; Self; Boehringer Ingelheim International GmbH. E. Dermitzakis: Advisory Panel; Self; DNAnexus LTD. Board Member; Self; Hybridstat LTD. M. McCarthy: Advisory Panel; Self; European Association for the Study of Diabetes, Pfizer Inc. Consultant; Self; Eli Lilly and Company, Merck & Co., Inc. Consultant; Spouse/Partner; Merck & Co., Inc. Research Support; Self; AbbVie Inc., Boehringer Ingelheim International GmbH. Research Support; Spouse/Partner; Diabetes UK. Research Support; Self; Janssen Pharmaceuticals, Inc., Merck & Co., Inc., National Institutes of Health. Research Support; Spouse/Partner; National Institutes of Health. Research Support; Self; Novo Nordisk A/S. Research Support; Spouse/Partner; Novo Nordisk A/S. Research Support; Self; Novo Nordisk Foundation, Roche Pharma, Sanofi-Aventis, Servier, Takeda Pharmaceutical Company Limited. P.W. Franks: Board Member; Self; Zoe Ltd. Research Support; Self; AstraZeneca, Boehringer Ingelheim International GmbH, Lilly Diabetes, Novo Nordisk A/S, Novo Nordisk Foundation, Sanofi, Servier. E. Pearson: None. J.M. Schwenk: None. Funding: Innovative Medicines Initiative Joint Undertaking (115317) [ABSTRACT FROM AUTHOR]- Published
- 2019
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32. Genome sizes and karyotypes in the razor clams Ensis arcuatus (Jeffreys, 1865) and E. siliqua (Linnaeus, 1758)
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Fernandez-Tajes, Juan, Andrés Martínez-Lage, Freire, Ruth, Guerra, Alejandro, Mendez, Josefina, and Gonzalez-Tlzon, Ana M.
- Subjects
Bivalves ,Karyotype ,FISH (Fluorescence in situ hybridization) ,Ribosomal locus ,Razor clam - Abstract
[Abstract] The razor clams Ensis arcuatus and E. siliqua show a diploid DNA content of 3.85 ± 0.049 pg and 4.00 ± 0.050 pg, respectively. Both have a diploid chromosome number of 38 although their karyotypes show remarkable differences. The karyotype of E. arcuatus consists of 4 metacentric, 1 metacentric-submetacentric, 7 submetacentric and 7 telocentric chromosome pairs, whereas that of E. siliqua possesses 3 metacentric, 7 submetacentric and 9 telocentric pairs. In situ hybridization using an 18S-5.8S-28S rDNA probe located this ribosomal locus on one chromosome pair for both species. Results demonstrate that large differences exist between them, probably caused by chromosome rearrangements along evolution of these two species, and increase the number of studies on bivalve cytogenetics. Xunta de Galicia; PGIDT99 MAR10302
33. Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data
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'Fernandez-Tajes, Juan
34. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
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Warrington, Nicole M, Beaumont, Robin N, Horikoshi, Momoko, Day, Felix R, Helgeland, Øyvind, Laurin, Charles, Bacelis, Jonas, Peng, Shouneng, Hao, Ke, Feenstra, Bjarke, Wood, Andrew R, Mahajan, Anubha, Tyrrell, Jessica, Robertson, Neil R, Rayner, N William, Qiao, Zhen, Moen, Gunn-Helen, Vaudel, Marc, Marsit, Carmen J, Chen, Jia, Nodzenski, Michael, Schnurr, Theresia M, Zafarmand, Mohammad H, Bradfield, Jonathan P, Grarup, Niels, Kooijman, Marjolein N, Li-Gao, Ruifang, Geller, Frank, Ahluwalia, Tarunveer S, Paternoster, Lavinia, Rueedi, Rico, Huikari, Ville, Hottenga, Jouke-Jan, Lyytikäinen, Leo-Pekka, Cavadino, Alana, Metrustry, Sarah, Cousminer, Diana L, Wu, Ying, Thiering, Elisabeth, Wang, Carol A, Have, Christian T, Vilor-Tejedor, Natalia, Joshi, Peter K, Painter, Jodie N, Ntalla, Ioanna, Myhre, Ronny, Pitkänen, Niina, Van Leeuwen, Elisabeth M, Joro, Raimo, Lagou, Vasiliki, Richmond, Rebecca C, Espinosa, Ana, Barton, Sheila J, Inskip, Hazel M, Holloway, John W, Santa-Marina, Loreto, Estivill, Xavier, Ang, Wei, Marsh, Julie A, Reichetzeder, Christoph, Marullo, Letizia, Hocher, Berthold, Lunetta, Kathryn L, Murabito, Joanne M, Relton, Caroline L, Kogevinas, Manolis, Chatzi, Leda, Allard, Catherine, Bouchard, Luigi, Hivert, Marie-France, Zhang, Ge, Muglia, Louis J, Heikkinen, Jani, EGG Consortium, Morgen, Camilla S, Van Kampen, Antoine HC, Van Schaik, Barbera DC, Mentch, Frank D, Langenberg, Claudia, Luan, Jian'an, Scott, Robert A, Zhao, Jing Hua, Hemani, Gibran, Ring, Susan M, Bennett, Amanda J, Gaulton, Kyle J, Fernandez-Tajes, Juan, Van Zuydam, Natalie R, Medina-Gomez, Carolina, De Haan, Hugoline G, Rosendaal, Frits R, Kutalik, Zoltán, Marques-Vidal, Pedro, Das, Shikta, Willemsen, Gonneke, Mbarek, Hamdi, Müller-Nurasyid, Martina, Standl, Marie, Appel, Emil VR, Fonvig, Cilius E, Trier, Caecilie, Van Beijsterveldt, Catharina EM, Murcia, Mario, Bustamante, Mariona, Bonas-Guarch, Sílvia, Hougaard, David M, Mercader, Josep M, Linneberg, Allan, Schraut, Katharina E, Lind, Penelope A, Medland, Sarah E, Shields, Beverley M, Knight, Bridget A, Chai, Jin-Fang, Panoutsopoulou, Kalliope, Bartels, Meike, Sánchez, Friman, Stokholm, Jakob, Torrents, David, Vinding, Rebecca K, Willems, Sara M, Atalay, Mustafa, Chawes, Bo L, Kovacs, Peter, Prokopenko, Inga, Tuke, Marcus A, Yaghootkar, Hanieh, Ruth, Katherine S, Jones, Samuel E, Loh, Po-Ru, Murray, Anna, Weedon, Michael N, Tönjes, Anke, Stumvoll, Michael, Michaelsen, Kim F, Eloranta, Aino-Maija, Lakka, Timo A, Van Duijn, Cornelia M, Kiess, Wieland, Körner, Antje, Niinikoski, Harri, Pahkala, Katja, Raitakari, Olli T, Jacobsson, Bo, Zeggini, Eleftheria, Dedoussis, George V, Teo, Yik-Ying, Saw, Seang-Mei, Montgomery, Grant W, Campbell, Harry, Wilson, James F, Vrijkotte, Tanja GM, Vrijheid, Martine, De Geus, Eco JCN, Hayes, M Geoffrey, Kadarmideen, Haja N, Holm, Jens-Christian, Beilin, Lawrence J, Pennell, Craig E, Heinrich, Joachim, Adair, Linda S, Borja, Judith B, Mohlke, Karen L, Eriksson, Johan G, Widén, Elisabeth E, Hattersley, Andrew T, Spector, Tim D, Kähönen, Mika, Viikari, Jorma S, Lehtimäki, Terho, Boomsma, Dorret I, Sebert, Sylvain, Vollenweider, Peter, Sørensen, Thorkild IA, Bisgaard, Hans, Bønnelykke, Klaus, Murray, Jeffrey C, Melbye, Mads, Nohr, Ellen A, Mook-Kanamori, Dennis O, Rivadeneira, Fernando, Hofman, Albert, Felix, Janine F, Jaddoe, Vincent WV, Hansen, Torben, Pisinger, Charlotta, Vaag, Allan A, Pedersen, Oluf, Uitterlinden, André G, Järvelin, Marjo-Riitta, Power, Christine, Hyppönen, Elina, Scholtens, Denise M, Lowe, William L, Davey Smith, George, Timpson, Nicholas J, Morris, Andrew P, Wareham, Nicholas J, Hakonarson, Hakon, Grant, Struan FA, Frayling, Timothy M, Lawlor, Debbie A, Njølstad, Pål R, Johansson, Stefan, Ong, Ken K, McCarthy, Mark I, Perry, John RB, Evans, David M, and Freathy, Rachel M
- Subjects
Adult ,Male ,Heart Diseases ,Models, Genetic ,Infant, Newborn ,Blood Pressure ,Polymorphism, Single Nucleotide ,Body Height ,3. Good health ,Fetal Development ,Diabetes Mellitus, Type 2 ,Metabolic Diseases ,Pregnancy ,Risk Factors ,Birth Weight ,Humans ,Female ,Genetic Predisposition to Disease ,Maternal Inheritance ,Maternal-Fetal Exchange ,Genome-Wide Association Study - Abstract
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
35. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
- Author
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Day, Felix, Karaderi, Tugce, Jones, Michelle R, Meun, Cindy, He, Chunyan, Drong, Alex, Kraft, Peter, Lin, Nan, Huang, Hongyan, Broer, Linda, Magi, Reedik, Saxena, Richa, Laisk, Triin, Urbanek, Margrit, Hayes, M Geoffrey, Thorleifsson, Gudmar, Fernandez-Tajes, Juan, Mahajan, Anubha, Mullin, Benjamin H, Stuckey, Bronwyn GA, Spector, Timothy D, Wilson, Scott G, Goodarzi, Mark O, Davis, Lea, Obermayer-Pietsch, Barbara, Uitterlinden, André G, Anttila, Verneri, Neale, Benjamin M, Jarvelin, Marjo-Riitta, Fauser, Bart, Kowalska, Irina, Visser, Jenny A, Andersen, Marianne, Ong, Ken, Stener-Victorin, Elisabet, Ehrmann, David, Legro, Richard S, Salumets, Andres, McCarthy, Mark I, Morin-Papunen, Laure, Thorsteinsdottir, Unnur, Stefansson, Kari, 23andMe Research Team, Styrkarsdottir, Unnur, Perry, John RB, Dunaif, Andrea, Laven, Joop, Franks, Steve, Lindgren, Cecilia M, and Welt, Corrine K
- Subjects
2. Zero hunger ,endocrine system diseases ,female genital diseases and pregnancy complications ,White People ,3. Good health ,Cohort Studies ,Phenotype ,Asian People ,Case-Control Studies ,Humans ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Polycystic Ovary Syndrome - Abstract
Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic criteria, resulting in a phenotypic spectrum of PCOS cases. The genetic similarities between cases diagnosed based on the two criteria have been largely unknown. Previous studies in Chinese and European subjects have identified 16 loci associated with risk of PCOS. We report a fixed-effect, inverse-weighted-variance meta-analysis from 10,074 PCOS cases and 103,164 controls of European ancestry and characterisation of PCOS related traits. We identified 3 novel loci (near PLGRKT, ZBTB16 and MAPRE1), and provide replication of 11 previously reported loci. Only one locus differed significantly in its association by diagnostic criteria; otherwise the genetic architecture was similar between PCOS diagnosed by self-report and PCOS diagnosed by NIH or non-NIH Rotterdam criteria across common variants at 13 loci. Identified variants were associated with hyperandrogenism, gonadotropin regulation and testosterone levels in affected women. Linkage disequilibrium score regression analysis revealed genetic correlations with obesity, fasting insulin, type 2 diabetes, lipid levels and coronary artery disease, indicating shared genetic architecture between metabolic traits and PCOS. Mendelian randomization analyses suggested variants associated with body mass index, fasting insulin, menopause timing, depression and male-pattern balding play a causal role in PCOS. The data thus demonstrate 3 novel loci associated with PCOS and similar genetic architecture for all diagnostic criteria. The data also provide the first genetic evidence for a male phenotype for PCOS and a causal link to depression, a previously hypothesized comorbid disease. Thus, the genetics provide a comprehensive view of PCOS that encompasses multiple diagnostic criteria, gender, reproductive potential and mental health.
36. Genome-wide associations for birth weight and correlations with adult disease
- Author
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Standl, Marie, Grarup, Niels, Mercader, Josep M., Nodzenski, Michael, Warrington, Nicole M., Felix, Janine F., Tuke, Marcus A., Hofman, Albert, Mohlke, Karen L., Strachan, David P., Kadarmideen, Haja N., Bonàs-Guarch, Sílvia, Scholtens, Denise M., Panoutsopoulou, Kalliope, Kovacs, Peter, Li-Gao, Ruifang, Langenberg, Claudia, Bønnelykke, Klaus, Morris, Andrew P., Reynolds, Rebecca M., Sørensen, Thorkild I. A., Day, Felix R., Freathy, Rachel M., Schraut, Katharina E., Feenstra, Bjarke, Bisgaard, Hans, Torrents, David, Carstensen, Lisbeth, De Haan, Hugoline G., Newnham, John P., Ruth, Katherine S., Ring, Susan M., Sánchez, Friman, Pisinger, Charlotta, Bustamante, Mariona, Robertson, Neil R., Rahmioglu, Nilufer, Kutalik, Zoltán, Rueedi, Rico, Boomsma, Dorret I., Horikoshi, Momoko, Rosendaal, Frits R., Van Beijsterveldt, Catharina E. M., Campbell, Harry, Mentch, Frank D., Kreiner, Eskil, Stumvoll, Michael, Fonvig, Cilius E., Willems, Sara M., Willemsen, Gonneke, Prokopenko, Inga, Beaumont, Robin N., Wu, Ying, Geller, Frank, Smith, George Davey, Bennett, Amanda J., Pitkänen, Niina, Dedoussis, George V., Vilor-Tejedor, Natalia, Lindi, Virpi, Jones, Samuel E., Trier, Caecilie, Tam, Claudia H. T., Vrijheid, Martine, Pedersen, Oluf, Tyrrell, Jessica, Widén, Elisabeth, Wareham, Nicholas J., Boh, Eileen Tai Hui, Uitterlinden, André G., De Geus, Eco J. C. N., Mahajan, Anubha, Kiess, Wieland, Vaag, Allan A., Wang, Carol A., Ganesh, Santhi K., Eriksson, Johan G., Van Leeuwen, Elisabeth M., Ong, Ken K., Timpson, Nicholas J., Luan, Jian'An, Murcia, Mario, Hottenga, Jouke-Jan, Van Rooij, Frank J. A., Thiering, Elisabeth, Mook-Kanamori, Dennis O., Davies, Eleanor, Van Zuydam, Natalie R., Ntalla, Ioanna, Vollenweider, Peter, Zhao, Jing Hua, Sebert, Sylvain, Hakonarson, Hakon, Walker, Brian R., Appel, Emil V. R., Joshi, Peter K., Tönjes, Anke, Adair, Linda S., Lakka, Timo A., Have, Christian T., Körner, Antje, Nyholt, Dale R., McMahon, George, Jaddoe, Vincent W. V., Tam, Wing Hung, Tiesler, Carla M. T., Teo, Yik-Ying, Atalay, Mustafa, Raitakari, Olli T., Niinikoski, Harri, Paternoster, Lavinia, Melbye, Mads, Rivadeneira, Fernando, Kähönen, Mika, Bradfield, Jonathan P., Beilin, Lawrence J., Hyppönen, Elina, Loh, Po-Ru, Wood, Andrew R., Ma, Ronald C. W., Scott, Robert A., Viikari, Jorma S., Medina-Gomez, Carolina, Pahkala, Katja, Hansen, Torben, Wilson, James F., Zeggini, Eleftheria, Kooijman, Marjolein N., Joro, Raimo, Cousminer, Diana L., Borja, Judith B., Frayling, Timothy M., Järvelin, Marjo-Riitta, Perry, John R. B., Holm, Jens-Christian, Lagou, Vasiliki, MacKenzie, Scott M., Fernandez-Tajes, Juan, Evans, David M., Pennell, Craig E., McCarthy, Mark I., Waage, Johannes, Heinrich, Joachim, Ahluwalia, Tarunveer S., Grant, Struan F. A., Hemani, Gibran, Lawlor, Debbie A., Lehtimäki, Terho, Van Duijn, Cornelia M., Gaulton, Kyle J., Zondervan, Krina T., Lyytikaïnen, Leo-Pekka, Hollegaard, Mads V., Wang, Xu, Lowe, William L., Yaghootkar, Hanieh, Diver, Louise A., Hattersley, Andrew T., Groves, Christopher J., Hougaard, David M., Power, Christine, Marques-Vidal, Pedro, and Saw, Seang-Mei
- Subjects
3. Good health - Abstract
Birth weight (BW) is influenced by both foetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease1. These lifecourse associations have often been attributed to the impact of an adverse early life environment. We performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where foetal genotype was associated with BW (P
37. Author Correction: Regulatory variants at KLF14influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition
- Author
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Small, Kerrin S., Todorcevic, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Vinuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.
- Abstract
In the version of this article originally published, minus signs were missing from the three ß-values for BMI given in Table 1. The errors have been corrected in the HTML and PDF versions of the article.
- Published
- 2018
- Full Text
- View/download PDF
38. Identification of the razor clam species Ensis arcuatus, E. siliqua, E. directus, E. macha, and Solen marginatus using PCR-RFLP analysis of the 5S rDNA region.
- Author
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Fernandez-Tajes J and Méndez J
- Subjects
- Animals, Food Contamination analysis, Food Preservation, RNA, Ribosomal, 5S genetics, Bivalvia classification, Bivalvia genetics, DNA, Ribosomal analysis, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Shellfish classification
- Abstract
Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis of the 5S ribosomal DNA region has been applied to the establishment of DNA-based molecular markers for the identification of five razor clam species: Ensis arcuatus, E. siliqua, E. directus, E. macha, and Solen marginatus. PCR amplifications were carried out using a pair of universal primers from the coding region of 5S rDNA. S. marginatus was simply distinguished by the different size of the amplicons obtained. Species-specific restriction endonuclease patterns were found with the enzymes Hae III for E. arcuatus, E. siliqua, and E. directus, and Acs I for E. macha, and when two enzymes were combined, the four species were also identified. Thus, this work provides a simple, reliable, and rapid protocol for the accurate identification of Ensis and Solen species in fresh and canned products, which is very useful for traceability and to enforce labeling regulations.
- Published
- 2007
- Full Text
- View/download PDF
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