Back to Search Start Over

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

Authors :
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
Source :
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
Publication Year :
2015

Abstract

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 contribute substantially to unexplained genetic variance. To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We found exome-wide significant (P

Details

Language :
English
Database :
OpenAIRE
Journal :
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
Accession number :
edsair.od......2761..12d57813c67e797fbb7130c6c4089f25
Full Text :
https://doi.org/10.1371/journal.pgen.1004876