Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Gabriela L. Surdulescu"'
Autor:
Anubha Mahajan, Xueling Sim, Hui Jin Ng, Alisa Manning, Manuel A Rivas, Heather M Highland, Adam E Locke, Niels Grarup, Hae Kyung Im, Pablo Cingolani, Jason Flannick, Pierre Fontanillas, Christian Fuchsberger, Kyle J Gaulton, Tanya M Teslovich, N William Rayner, Neil R Robertson, Nicola L Beer, Jana K Rundle, Jette Bork-Jensen, Claes Ladenvall, Christine Blancher, David Buck, Gemma Buck, Noël P Burtt, Stacey Gabriel, Anette P Gjesing, Christopher J Groves, Mette Hollensted, Jeroen R Huyghe, Anne U Jackson, Goo Jun, Johanne Marie Justesen, Massimo Mangino, Jacquelyn Murphy, Matt Neville, Robert Onofrio, Kerrin S Small, Heather M Stringham, Ann-Christine Syvänen, Joseph Trakalo, Goncalo Abecasis, Graeme I Bell, John Blangero, Nancy J Cox, Ravindranath Duggirala, Craig L Hanis, Mark Seielstad, James G Wilson, Cramer Christensen, Ivan Brandslund, Rainer Rauramaa, Gabriela L Surdulescu, Alex S F Doney, Lars Lannfelt, Allan Linneberg, Bo Isomaa, Tiinamaija Tuomi, Marit E Jørgensen, Torben Jørgensen, Johanna Kuusisto, Matti Uusitupa, Veikko Salomaa, Timothy D Spector, Andrew D Morris, Colin N A Palmer, Francis S Collins, Karen L Mohlke, Richard N Bergman, Erik Ingelsson, Lars Lind, Jaakko Tuomilehto, Torben Hansen, Richard M Watanabe, Inga Prokopenko, Josee Dupuis, Fredrik Karpe, Leif Groop, Markku Laakso, Oluf Pedersen, Jose C Florez, Andrew P Morris, David Altshuler, James B Meigs, Michael Boehnke, Mark I McCarthy, Cecilia M Lindgren, Anna L Gloyn, T2D-GENES consortium and GoT2D consortium
Publikováno v:
PLoS Genetics, Vol 11, Iss 1, p e1004876 (2015)
Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contrib
Externí odkaz:
https://doaj.org/article/cec1ab88480748b08bff91f2f1d31386
Autor:
Marco Medici, Eleonora Porcu, Giorgio Pistis, Alexander Teumer, Suzanne J Brown, Richard A Jensen, Rajesh Rawal, Greet L Roef, Theo S Plantinga, Sita H Vermeulen, Jari Lahti, Matthew J Simmonds, Lise Lotte N Husemoen, Rachel M Freathy, Beverley M Shields, Diana Pietzner, Rebecca Nagy, Linda Broer, Layal Chaker, Tim I M Korevaar, Maria Grazia Plia, Cinzia Sala, Uwe Völker, J Brent Richards, Fred C Sweep, Christian Gieger, Tanguy Corre, Eero Kajantie, Betina Thuesen, Youri E Taes, W Edward Visser, Andrew T Hattersley, Jürgen Kratzsch, Alexander Hamilton, Wei Li, Georg Homuth, Monia Lobina, Stefano Mariotti, Nicole Soranzo, Massimiliano Cocca, Matthias Nauck, Christin Spielhagen, Alec Ross, Alice Arnold, Martijn van de Bunt, Sandya Liyanarachchi, Margit Heier, Hans Jörgen Grabe, Corrado Masciullo, Tessel E Galesloot, Ee M Lim, Eva Reischl, Peter J Leedman, Sandra Lai, Alessandro Delitala, Alexandra P Bremner, David I W Philips, John P Beilby, Antonella Mulas, Matteo Vocale, Goncalo Abecasis, Tom Forsen, Alan James, Elisabeth Widen, Jennie Hui, Holger Prokisch, Ernst E Rietzschel, Aarno Palotie, Peter Feddema, Stephen J Fletcher, Katharina Schramm, Jerome I Rotter, Alexander Kluttig, Dörte Radke, Michela Traglia, Gabriela L Surdulescu, Huiling He, Jayne A Franklyn, Daniel Tiller, Bijay Vaidya, Tim de Meyer, Torben Jørgensen, Johan G Eriksson, Peter C O'Leary, Eric Wichmann, Ad R Hermus, Bruce M Psaty, Till Ittermann, Albert Hofman, Emanuele Bosi, David Schlessinger, Henri Wallaschofski, Nicola Pirastu, Yurii S Aulchenko, Albert de la Chapelle, Romana T Netea-Maier, Stephen C L Gough, Henriette Meyer Zu Schwabedissen, Timothy M Frayling, Jean-Marc Kaufman, Allan Linneberg, Katri Räikkönen, Johannes W A Smit, Lambertus A Kiemeney, Fernando Rivadeneira, André G Uitterlinden, John P Walsh, Christa Meisinger, Martin den Heijer, Theo J Visser, Timothy D Spector, Scott G Wilson, Henry Völzke, Anne Cappola, Daniela Toniolo, Serena Sanna, Silvia Naitza, Robin P Peeters
Publikováno v:
PLoS Genetics, Vol 10, Iss 2, p e1004123 (2014)
Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population. Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of autoimmune hypothyroidism (Hashimoto's thyroiditis), as well as autoim
Externí odkaz:
https://doaj.org/article/6d824980694a4a48a3e40759b1015386
Autor:
Josine L Min, Jennifer M Taylor, J Brent Richards, Tim Watts, Fredrik H Pettersson, John Broxholme, Kourosh R Ahmadi, Gabriela L Surdulescu, Ernesto Lowy, Christian Gieger, Chris Newton-Cheh, Markus Perola, Nicole Soranzo, Ida Surakka, Cecilia M Lindgren, Jiannis Ragoussis, Andrew P Morris, Lon R Cardon, Tim D Spector, Krina T Zondervan
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e22070 (2011)
The integrated analysis of genotypic and expression data for association with complex traits could identify novel genetic pathways involved in complex traits. We profiled 19,573 expression probes in Epstein-Barr virus-transformed lymphoblastoid cell
Externí odkaz:
https://doaj.org/article/982c18574fb2437d82a27dcf7bdb2ea8
Autor:
Clement Ma, Liisa Hakaste, Claes Ladenvall, Massimo Mangino, Lars Lind, Aaron G. Day-Williams, Ryan Poplin, Thomas Schwarzmayr, Annette Peters, Thomas Meitinger, Satish Kumar, Kyong Soo Park, Ching-Yu Cheng, Farook Thameem, Kyle J. Gaulton, Olov Rolandsson, Yossi Farjoun, Neil Robertson, Mauricio O. Carneiro, Mark A. DePristo, Pierre Fontanillas, Ruth J. F. Loos, Heather M. Highland, Vilmantas Giedraitis, Gemma Buck, Fredrik Karpe, Mohammad Kamran Ikram, Alex S. F. Doney, Hae Kyung Im, Eric S. Lander, Johanna Kuusisto, Dorothée Thuillier, Denis Rybin, Jacquelyn Murphy, Benjamin M. Neale, Martina Müller-Nurasyid, Eric R. Gamazon, Johanne Marie Justesen, Tin Aung, Vincent K. L. Lam, John Danesh, Donna M. Lehman, Goo Jun, Marit E. Jørgensen, Christian Herder, Edmund Chan, Pamela J. Hicks, Todd Green, Claudia Langenberg, Yoon Shin Cho, James G. Wilson, Daniel E. Hale, Rector Arya, Giriraj R. Chandak, Juan Fernandez Tajes, Jaakko Tuomilehto, Christopher P. Jenkinson, Anders Rosengren, Torsten Lauritzen, Michael Griswold, Karen L. Mohlke, Amy J. Swift, Alena Stančáková, Christian Fuchsberger, Iksoo Huh, Nikhil Tandon, João Fadista, Christa Meisinger, Gonçalo R. Abecasis, Pål R. Njølstad, Dwaipayan Bharadwaj, Richard M. Watanabe, Shaun Purcell, Veikko Salomaa, Tim D. Spector, Paul W. Franks, Adam E. Locke, Sharon P. Fowler, Panos Deloukas, Reedik Mägi, Solomon K. Musani, Kee Seng Chia, Barbara Thorand, Soo Heon Kwak, Annemari Käräjämäki, Evelin Mihailov, John Blangero, Thomas Wieland, Christian Gieger, E. Shyong Tai, Jianjun Liu, James B. Meigs, Teemu Kuulasmaa, Martin Hrabé de Angelis, Francis S. Collins, Tim M. Strom, Tibor V. Varga, Juyoung Lee, Mark I. McCarthy, Domenico Palli, Jong-Young Lee, Benjamin Glaser, Tasha E. Fingerlin, Stephen O'Rahilly, Andrew T. Hattersley, Gil Atzmon, Manuel A. Rivas, Noël P. Burtt, Ivan Brandslund, Young-Jin Kim, Dorairaj Prabhakaran, Xu Wang, Taylor J. Maxwell, Valeriya Lyssenko, Frank B. Hu, Adolfo Correa, Khalid Shakir, Kathleen A. Jablonski, Yingchang Lu, Wei-Yen Lim, Min Jin Go, William R. Scott, Hanna E. Abboud, Leena Kinnunen, Inês Barroso, Gabriela L. Surdulescu, Peng Chen, Robert Sladek, Marju Orho-Melander, Xueling Sim, Robert A. Scott, Joanna M. M. Howson, Markku Laakso, David Altshuler, Vidya S. Farook, Harald Grallert, Janina S. Ried, Vineeta Agarwala, Philippe Froguel, Nicholas J. Wareham, Tiinamaija Tuomi, Joon Yoon, Heikki A. Koistinen, Toni I. Pollin, Heiner Boeing, Marie Loh, Nicola L. Beer, Joanne E. Curran, Lars Lannfelt, Dorota Pasko, Taesung Park, David Buck, Nir Barzilai, Stephen C. J. Parker, Michael Roden, Bok-Ghee Han, David Aguilar, Timothy Fennell, Sian-Tsung Tan, Gregory P. Wilson, Momoko Horikoshi, Cramer Christensen, Craig L. Hanis, Gilean McVean, Benjamin F. Voight, Wolfgang Rathmann, Jared Maguire, Ashok Kumar, Donald W. Bowden, Michael L. Stitzel, Yongkang Kim, Christine Blancher, Jason Carey, Min-Seok Kwon, Nicholette D. Palmer, Oluf Pedersen, Niels Grarup, Peter S. Chines, Cornelia Huth, James Scott, Torben Hansen, Konstantin Strauch, Erwin P. Bottinger, Andrew D. Morris, Anette P. Gjesing, Erik Ingelsson, Colin N. A. Palmer, Claudia H. T. Tam, Stacey Gabriel, Pablo Cingolani, Beverley Balkau, Michael Boehnke, Peter M. Nilsson, Wing-Yee So, Andrew R. Wood, Lili Milani, Ravindranath Duggirala, Qibin Qi, Mark Walker, Weiping Jia, Mark Seielstad, Narisu Narisu, Tien Yin Wong, Martijn van de Bunt, Anubha Mahajan, Davis J. McCarthy, Ann-Christine Syvänen, Jennifer Kriebel, N. William Rayner, Han Chen, Jinyan Huang, Chiea Chuen Khor, Richard N. Bergman, Shah Ebrahim, Dylan Hodgkiss, Weihua Zhang, Manjinder S. Sandhu, Richard D. Pearson, Juliana C.N. Chan, Rainer Rauramaa, Ralph A. DeFronzo, Andrew Farmer, Yoshihiko Nagai, Allan Linneberg, Herman A. Taylor, Jose C. Florez, Jaspal S. Kooner, Lori L. Bonnycastle, Jeroen R. Huyghe, Leif Groop, Joseph Trakalo, Sobha Puppala, Bong-Jo Kim, Kathleen Stirrups, Kerrin S. Small, Cecilia M. Lindgren, Jennifer E. Below, Heung Man Lee, Inga Prokopenko, Liming Liang, Timothy M. Frayling, Uzma Afzal, Mark J. Daly, Yik Ying Teo, Andrew P. Morris, Phoenix Kwan, Yvonne T. van der Schouw, Cheng Hu, Katharine R. Owen, Alisa K. Manning, Christopher J. Groves, Josée Dupuis, Ryan P. Welch, Loukas Moutsianas, Joshua D. Smith, Tanya M. Teslovich, Robert C. Onofrio, Maggie C.Y. Ng, Peter Donnelly, Tõnu Esko, Matt Neville, Bo Isomaa, Anne U. Jackson, Jette Bork-Jensen, Barry I. Freedman, Yi Chen, Danish Saleheen, Lu Qi, Laura J. Scott, Jasmina Kravic, Paul Elliott, Mette Hollensted, Carmen Navarro, Selyeong Lee, Benjamin Lehne, Thomas Illig, Nancy J. Cox, Jonathan C. Levy, George B. Grant, John C. Chambers, Adam S. Butterworth, Ronald C.W. Ma, Teresa Ferreira, John R. B. Perry, Eleftheria Zeggini, Hyun Min Kang, Loic Yengo, Eric Banks, Jae-Hoon Lee, Anna L. Gloyn, Christopher Hartl, Wei Zhao, Andres Metspalu, Keng-Han Lin, Graeme I. Bell, Jason Flannick, Torben Jørgensen, Thomas W. Blackwell, Heather M. Stringham, Olle Melander, Omri Gottesman
Publikováno v:
Nature, 536(7614), 41-+. Nature Publishing Group
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Tajes, J F, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, M C Y, Palmer, N D, Balkau, B, Stančáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G, Wong, T Y, Njølstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, Käräjämäki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, Hrabé de Angelis, M, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvänen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature, vol. 536, no. 7614, pp. 41-47 . https://doi.org/10.1038/nature18642
NATURE
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Tajes, J F, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Mueller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P-M, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X-G, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A K, Ng, M C Y, Palmer, N D, Balkau, B, Stancáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W-Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M E, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G A, Wong, T Y, Njolstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jorgensen, M E, Jorgensen, T, Ladenvall, C, Justesen, J M, Karajamaki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M J, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A J, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, de Angelis, M H, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvanen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M S, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Magi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G R, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature Genetics, vol. 536, no. 7614, pp. 41-+ . https://doi.org/10.1038/nature18642
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Fernandez Tajes, J, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, M C Y, Palmer, N D, Balkau, B, Stancáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G, Wong, T Y, Njølstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, Käräjämäki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, Hrabé de Angelis, M, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvänen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature, vol. 536, no. 7614, pp. 41-47 . https://doi.org/10.1038/nature18642
PMC
Nature, 536(7614), 41. Nature Publishing Group
Nature
Nature, 536(7614), 41-47. Nature Publishing Group
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Tajes, J F, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, M C Y, Palmer, N D, Balkau, B, Stančáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G, Wong, T Y, Njølstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, Käräjämäki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, Hrabé de Angelis, M, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvänen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature, vol. 536, no. 7614, pp. 41-47 . https://doi.org/10.1038/nature18642
NATURE
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Tajes, J F, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Mueller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P-M, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X-G, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A K, Ng, M C Y, Palmer, N D, Balkau, B, Stancáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W-Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M E, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G A, Wong, T Y, Njolstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jorgensen, M E, Jorgensen, T, Ladenvall, C, Justesen, J M, Karajamaki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M J, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A J, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, de Angelis, M H, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvanen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M S, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Magi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G R, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature Genetics, vol. 536, no. 7614, pp. 41-+ . https://doi.org/10.1038/nature18642
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Fernandez Tajes, J, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, M C Y, Palmer, N D, Balkau, B, Stancáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G, Wong, T Y, Njølstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, Käräjämäki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, Hrabé de Angelis, M, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvänen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature, vol. 536, no. 7614, pp. 41-47 . https://doi.org/10.1038/nature18642
PMC
Nature, 536(7614), 41. Nature Publishing Group
Nature
Nature, 536(7614), 41-47. Nature Publishing Group
The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants as
Autor:
Amy Barrett, Tim D. Spector, Stephen B. Montgomery, Veronique Bataille, Paola Di Meglio, Mark I. McCarthy, Åsa K. Hedman, Josine L. Min, James Nisbet, Leopold Parts, Alexandra C. Nica, Jordana T. Bell, Kourosh R. Ahmadi, Panos Deloukas, Richard Durbin, Alicja Wilk, Krina T. Zondervan, Simon C. Potter, Magdalena Sekowska, Mary E. Travers, Catherine E. Ingle, Gabriela L. Surdulescu, S O'Rahilly, Frank O. Nestle, Daniel Glass, Emmanouil T. Dermitzakis, Kerrin S. Small, Cecilia M. Lindgren, Tsun-Po Yang, Elin Grundberg, Nicole Soranzo, Antigone S. Dimas, Christopher J Hammond, Inês Barroso, N Hassanali
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 7, Iss 2, p e1002003 (2011)
PLOS Genetics, Vol. 7, No 2 (2011) P. e1002003
PLoS Genetics, Vol 7, Iss 2, p e1002003 (2011)
PLOS Genetics, Vol. 7, No 2 (2011) P. e1002003
While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d41b0a5cfd5cb0a7ca3e8dcfcdbbdc
https://doi.org/10.1371/journal.pgen.1002003
https://doi.org/10.1371/journal.pgen.1002003
Autor:
J. Brent Richards, John P. Walsh, Frank Dudbridge, Hou-Feng Zheng, Suzanne J. Brown, Charles Curtis, Scott Wilson, Gerome Breen, Benjamin H. Mullin, Tim D. Spector, Gabriela L. Surdulescu
Publikováno v:
BMC Genomics
Mullin, B H, Walsh, J P, Zheng, H F, Brown, S J, Surdulescu, G L, Curtis, C, Breen, G, Dudbridge, F, Richards, J B, Spector, T D & Wilson, S G 2016, ' Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density ', BMC GENOMICS, vol. 17, no. 1, 136, pp. 1-11 . https://doi.org/10.1186/s12864-016-2481-0
Mullin, B H, Walsh, J P, Zheng, H F, Brown, S J, Surdulescu, G L, Curtis, C, Breen, G, Dudbridge, F, Richards, J B, Spector, T D & Wilson, S G 2016, ' Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density ', BMC GENOMICS, vol. 17, no. 1, 136, pp. 1-11 . https://doi.org/10.1186/s12864-016-2481-0
Osteoporosis is a common and debilitating bone disease that is characterised by a low bone mineral density (BMD), a highly heritable trait. Genome-wide association studies (GWAS) have proven to be very successful in identifying common genetic variant
Autor:
Frank Dudbridge, Nicole Soranzo, J. Brent Richards, Scott Wilson, Shelby Chew, Tim D. Spector, Suzanne J. Brown, Joshua R. Lewis, Gabriela L. Surdulescu, Zari Dastani
Publikováno v:
Bone
Bone; Vol 51
Bone; Vol 51
Introduction Genetic studies of osteoporosis have commonly examined SNPs in candidate genes or whole genome analyses, but insertions and deletions of DNA, collectively called copy number variations (CNVs), also comprise a large amount of the genetic
Autor:
Gabriela L. Surdulescu, Irina Gillham-Nasenya, Ee Mun Lim, Scott Wilson, Emad Qweitin, Tim D. Spector, Vijay Panicker, John Beilby, J. Brent Richards, John P. Walsh, Stephen J. Fletcher, Nicole Soranzo, Alexandra Bremner, Suzanne J. Brown
Publikováno v:
The American Journal of Human Genetics
The American Journal of Human Genetics; Vol 87
The American Journal of Human Genetics; Vol 87
Thyroid hormones are key regulators of cellular growth, development, and metabolism, and thyroid disorders are a common cause of ill health in the community. Circulating concentrations of thyrotropin (TSH), thyroxine (T4) and triiodothyronine (T3) ha
Autor:
Richard L. Prince, Scott Wilson, Ben H. Mullin, Ian M. Dick, Alessandra C. L. Cervino, Tomi Pastinen, J. Brent Richards, Michelle R. Jones, Katherine S. Elliott, Elin Grundberg, Östen Ljunggren, Tim D. Spector, Frank Dudbridge, Gabriela L. Surdulescu
Publikováno v:
Journal of Bone and Mineral Research. 24:1989-1997
Previous data from our group indicate that BMD is linked to chromosome 3p14-p21. Because the filamin B (FLNB gene resides in this region, is the cause of skeletal dysplasias, and was identified among the top genes in our bioinformatics analysis, we h
Autor:
G. R. V. Hughes, Veronica Murru, Munther A. Khamashta, Lynn Cherkas, Alex J. MacGregor, Frances M K Williams, Gabriela L. Surdulescu, Tim D. Spector, Maria Laura Bertolaccini
Publikováno v:
Cephalalgia. 28:1048-1052
Migraine headache (with and without aura) is common in the general population and is known to be influenced by genetic factors with heritability estimates between 34-57±. Antiphospholipid syndrome (APS) is a hypercoagulable state characterized by cl