Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

Autor: Mahajan, Anubha, Sim, Xueling, Ng, Hui Jin, Manning, Alisa, Rivas, Manuel A., Highland, Heather M., Locke, Adam E., Grarup, Niels, Im, Hae Kyung, Cingolani, Pablo, Flannick, Jason, Fontanillas, Pierre, Fuchsberger, Christian, Gaulton, Kyle J., Teslovich, Tanya M., Rayner, N. William, Robertson, Neil R., Beer, Nicola L., Rundle, Jana K., Bork-Jensen, Jette, Ladenvall, Claes, Blancher, Christine, Buck, David, Buck, Gemma, Burtt, Noël P., Gabriel, Stacey, Gjesing, Anette P., Groves, Christopher J., Hollensted, Mette, Huyghe, Jeroen R., Jackson, Anne U., Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S., Stringham, Heather M., Syvänen, Ann Christine, Trakalo, Joseph, Abecasis, Goncalo, Bell, Graeme I., Blangero, John, Cox, Nancy J., Duggirala, Ravindranath, Hanis, Craig L., Seielstad, Mark, Wilson, James G., Christensen, Cramer, Brandslund, Ivan, Rauramaa, Rainer, Surdulescu, Gabriela L., Doney, Alex S F, Lannfelt, Lars, Linneberg, Allan, Isomaa, Bo, Tuomi, Tiinamaija, Jørgensen, Marit E., Jørgensen, Torben, Kuusisto, Johanna, Uusitupa, Matti, Salomaa, Veikko, Spector, Timothy D., Morris, Andrew D., Palmer, Colin N A, Collins, Francis S., Mohlke, Karen L., Bergman, Richard N., Ingelsson, Erik, Lind, Lars, Tuomilehto, Jaakko, Hansen, Torben, Watanabe, Richard M., Prokopenko, Inga, Dupuis, Josee, Karpe, Fredrik, Groop, Leif, Laakso, Markku, Pedersen, Oluf, Florez, Jose C., Morris, Andrew P., Altshuler, David, Meigs, James B., Boehnke, Michael, McCarthy, Mark I., Lindgren, Cecilia M., Gloyn, Anna L., Abboud, Hanna E., Afzal, Uzma, Aguilar, David, Arya, Rector, Atzmon, Gil, Aung, Tin, Banks, Eric, Barroso, Inês, Barzilai, Nir, Below, Jennifer E., Bharadwaj, Dwaipayan, Blackwell, Thomas W., Bonnycastle, Lori L., Bowden, Don, Carey, Jason, Carneiro, Mauricio O., Chambers, John C., Chan, Edmund, Chan, Juliana, Chandak, Giriraj R., Chen, Peng, Chen, Yuhui, Chen, Han, Cheng, Ching Yu, Chia, Kee Seng, Cho, Yoon Shin, Correa, Adolfo, Curran, Joanne E., Daly, Mark J., Day-Williams, Aaron G., DeFronzo, Ralph A., DePristo, Mark, Donnelly, Peter J., Ebrahim, Shah B., Elliott, Paul, Esko, Tõnu, Fadista, João, Farjoun, Yossi, Farmer, Andrew J., Farook, Vidya S., Fennell, Timothy, Ferreira, Teresa, Fingerlin, Tasha, Forsén, Tom, Fowler, Sharon P., Franks, Paul W., Frayling, Timothy M., Freedman, Barry I., Froguel, Philippe, Gamazon, Eric R., Gieger, Christian, Glaser, Benjamin, Go, Min Jin, Goldstein, Jacqueline I., Grallert, Harald, Grant, George, Green, Todd, Griswold, Michael, Hale, Daniel Esten, Han, Bok Ghee, Hartl, Christopher, Hattersley, Andrew T., Hicks, Pamela J., Hodgkiss, Dylan, Horikoshi, Momoko, Hrabé de Angelis, Martin, Hu, Cheng, Hu, Frank B., Huh, Iksoo, Kamran Ikram, Mohammad, Illig, Thomas, Jablonski, Kathleen A., Jenkinson, Christopher P., Jia, Weiping, Kang, Hyun Min, Khor, Chiea Chuen, Kim, Yongkang, Kim, Young Jin, Kim, Bong Jo, Kinnunen, Leena, Kooner, Jaspal Singh, Kravic, Jasmina, Kriebel, Jennifer, Kumar, Ashish, Kumar, Satish, Kuulasmaa, Teemu, Kwon, Min Seok, Langenberg, Claudia, Lauritzen, Torsten, Lee, Selyeong, Lee, Jaehoon, Lee, Juyoung, Lee, Jong Young, Lehman, Donna M., Lehne, Benjamin, Levy, Jonathan C., Li, Jiang, Liang, Liming, Lim, Wei Yen, Lin, Keng Han, Liu, Jianjun, Loh, Marie, Ma, Ronald C W, Ma, Clement, Mägi, Reedik, Maguire, Jared, Maxwell, Taylor J., McVean, Gilean, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mihailov, Evelin, Milani, Lili, Moutsianas, Loukas, Müller-Nurasyid, Martina, K. Musani, Solomon, Nagai, Yoshihiko, Narisu, Narisu, Neale, Benjamin M., Ng, Maggie C Y, Nilsson, Peter, O'Rahilly, Stephen P., Orho-Melander, Marju, Owen, Katharine R., Palmer, Nicholette D., Park, Taesung, Pasko, Dorota, Pearson, Richard D., Perry, John R B, Peters, Annette, Pollin, Toni I., Poplin, Ryan, Prabhakaran, Dorairaj, Puppala, Sobha, Purcell, Shaun, Qi, Lu, Qi, Qibin, Roden, Michael, Rolandsson, Olov, Rosengren, Anders H., Sandhu, Manjinder, Schwarzmayr, Thomas, Scott, Laura J., Scott, Robert A., Scott, James, Scott, William R., Sehmi, Jobanpreet, Shakir, Khalid, Sladek, Rob, Smith, Joshua D., Stancáková, Alena, Strauch, Konstantin, Strom, Tim M., Swift, Amy, Tai, E. Shyong, Tajes, Juan Fernandez, Tan, Sian Tsung, Tandon, Nikhil, Taylor, Herman A., Teo, Yik Ying, Thameem, Farook, Thorand, Barbara, van de Bunt, Martijn, Varga, Tibor V., Walker, Mark, Wareham, Nicholas J., Welch, Ryan P., Wieland, Thomas, Wilson, Gregory, Wong, Tien Yin, Wood, Andrew R., Yoon, Joon, Zeggini, Eleftheria, Zhang, Weihua

Publikováno v: Mahajan, A, Sim, X, Ng, H J, Manning, A, Rivas, M A, Highland, H M, Locke, A E, Grarup, N, Im, H K, Cingolani, P, Flannick, J, Fontanillas, P, Fuchsberger, C, Gaulton, K J, Teslovich, T M, Rayner, N W, Robertson, N R, Beer, N L, Rundle, J K, Bork-Jensen, J, Ladenvall, C, Blancher, C, Buck, D, Buck, G, Burtt, N P, Gabriel, S, Gjesing, A P, Groves, C J, Hollensted, M, Huyghe, J R, Jackson, A U, Jun, G, Justesen, J M, Mangino, M, Murphy, J, Neville, M, Onofrio, R, Small, K S, Stringham, H M, Syvänen, A C, Trakalo, J, Abecasis, G, Bell, G I, Blangero, J, Cox, N J, Duggirala, R, Hanis, C L, Seielstad, M, Wilson, J G, Christensen, C, Brandslund, I, Rauramaa, R, Surdulescu, G L, Doney, A S F, Lannfelt, L, Linneberg, A, Isomaa, B, Tuomi, T, Jørgensen, M E, Jørgensen, T, Kuusisto, J, Uusitupa, M, Salomaa, V, Spector, T D, Morris, A D, Palmer, C N A, Collins, F S, Mohlke, K L, Bergman, R N, Ingelsson, E, Lind, L, Tuomilehto, J, Hansen, T, Watanabe, R M, Prokopenko, I, Dupuis, J, Karpe, F, Groop, L, Laakso, M, Pedersen, O, Florez, J C, Morris, A P, Altshuler, D, Meigs, J B, Boehnke, M, McCarthy, M I, Lindgren, C M, Gloyn, A L, Abboud, H E, Afzal, U, Aguilar, D, Arya, R, Atzmon, G, Aung, T, Banks, E, Barroso, I, Barzilai, N, Below, J E, Bharadwaj, D, Blackwell, T W, Bonnycastle, L L, Bowden, D, Carey, J, Carneiro, M O, Chambers, J C, Chan, E, Chan, J, Chandak, G R, Chen, P, Chen, Y, Chen, H, Cheng, C Y, Chia, K S, Cho, Y S, Correa, A, Curran, J E, Daly, M J, Day-Williams, A G, DeFronzo, R A, DePristo, M, Donnelly, P J, Ebrahim, S B, Elliott, P, Esko, T, Fadista, J, Farjoun, Y, Farmer, A J, Farook, V S, Fennell, T, Ferreira, T, Fingerlin, T, Forsén, T, Fowler, S P, Franks, P W, Frayling, T M, Freedman, B I, Froguel, P, Gamazon, E R, Gieger, C, Glaser, B, Go, M J, Goldstein, J I, Grallert, H, Grant, G, Green, T, Griswold, M, Hale, D E, Han, B G, Hartl, C, Hattersley, A T, Hicks, P J, Hodgkiss, D, Horikoshi, M, Hrabé de Angelis, M, Hu, C, Hu, F B, Huh, I, Kamran Ikram, M, Illig, T, Jablonski, K A, Jenkinson, C P, Jia, W, Kang, H M, Khor, C C, Kim, Y, Kim, Y J, Kim, B J, Kinnunen, L, Kooner, J S, Kravic, J, Kriebel, J, Kumar, A, Kumar, S, Kuulasmaa, T, Kwon, M S, Langenberg, C, Lauritzen, T, Lee, S, Lee, J, Lee, J, Lee, J Y, Lehman, D M, Lehne, B, Levy, J C, Li, J, Liang, L, Lim, W Y, Lin, K H, Liu, J, Loh, M, Ma, R C W, Ma, C, Mägi, R, Maguire, J, Maxwell, T J, McVean, G, Meisinger, C, Meitinger, T, Melander, O, Metspalu, A, Mihailov, E, Milani, L, Moutsianas, L, Müller-Nurasyid, M, K. Musani, S, Nagai, Y, Narisu, N, Neale, B M, Ng, M C Y, Nilsson, P, O'Rahilly, S P, Orho-Melander, M, Owen, K R, Palmer, N D, Park, T, Pasko, D, Pearson, R D, Perry, J R B, Peters, A, Pollin, T I, Poplin, R, Prabhakaran, D, Puppala, S, Purcell, S, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Rosengren, A H, Sandhu, M, Schwarzmayr, T, Scott, L J, Scott, R A, Scott, J, Scott, W R, Sehmi, J, Shakir, K, Sladek, R, Smith, J D, Stancáková, A, Strauch, K, Strom, T M, Swift, A, Tai, E S, Tajes, J F, Tan, S T, Tandon, N, Taylor, H A, Teo, Y Y, Thameem, F, Thorand, B, van de Bunt, M, Varga, T V, Walker, M, Wareham, N J, Welch, R P, Wieland, T, Wilson, G, Wong, T Y, Wood, A R, Yoon, J, Zeggini, E & Zhang, W 2015, ' Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus ', PL o S Genetics, vol. 11, no. 1, e1004876 . https://doi.org/10.1371/journal.pgen.1004876

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

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