Projects per year
Abstract
To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
| Original language | English |
|---|---|
| Article number | 170179 |
| Pages (from-to) | 1-20 |
| Number of pages | 20 |
| Journal | Scientific Data |
| Volume | 4 |
| DOIs | |
| Publication status | Published - 19 Dec 2017 |
Keywords
- Journal article
- DNA sequencing
- Genome-wide association studies
- Type 2 diabetes
Access to Document
- 10.1038/sdata.2017.179Licence: CC BY
- Final Published Version
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Final published version, 1.47 MBLicence: CC BY
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Projects
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The Scottish eHealth Informatics Research Centre (E-HIRCs) (Joint with Universities of Aberdeen, Glasgow, Edinburgh, Strathclyde, St Andrews & Leicester and ISD)
Colhoun, H., Donnan, P., Guthrie, B., Jefferson, E., MacDonald, T., McCowan, C., Morris, A., Pearson, E., Sullivan, F. & Swedlow, J.
1/03/13 → 31/12/18
Project: Research
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Jason, F., Fuchsberger, C., Mahajan, A., Teslovich, T. M., Agarwala, V., Gaulton, K. J., Caulkins, L., Koesterer, R., Ma, C., 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., ... McCarthy, M. I. (2017). Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data, 4, 1-20. [170179]. https://doi.org/10.1038/sdata.2017.179
Jason, Flannick ; Fuchsberger, Christian ; Mahajan, Anubha ; Teslovich, Tanya M ; Agarwala, Vineeta ; Gaulton, Kyle J ; Caulkins, Lizz ; Koesterer, Ryan ; Ma, Clement ; Moutsianas, Loukas ; McCarthy, Davis J ; Rivas, Manuel A ; Perry, John R B ; Sim, Xueling ; Blackwell, Thomas W ; Robertson, Neil R ; Rayner, N William ; Cingolani, Pablo ; Locke, Adam E ; Tajes, Juan Fernandez ; Highland, Heather M ; Dupuis, Josee ; Chines, Peter S ; Lindgren, Cecilia M ; Hartl, Christopher ; Jackson, Anne U ; Chen, Han ; Huyghe, Jeroen R ; van de Bunt, Martijn ; Pearson, Richard D ; Kumar, Ashish ; Müller-Nurasyid, Martina ; Grarup, Niels ; Stringham, Heather M ; Gamazon, Eric R ; Lee, Jaehoon ; Chen, Yuhui ; Scott, Robert A ; Below, Jennifer E ; Chen, Peng ; Huang, Jinyan ; Go, Min Jin ; Stitzel, Michael L ; Pasko, Dorota ; Parker, Stephen C J ; Varga, Tibor V ; Green, Todd ; Beer, Nicola L ; Day-Williams, Aaron G ; Ferreira, Teresa ; Fingerlin, Tasha ; Horikoshi, Momoko ; Hu, Cheng ; Huh, Iksoo ; Ikram, Mohammad Kamran ; Kim, Bong-Jo ; Kim, Yongkang ; Kim, Young Jin ; Kwon, Min-Seok ; Lee, Juyoung ; Lee, Selyeong ; Lin, Keng-Han ; Maxwell, Taylor J ; Nagai, Yoshihiko ; Wang, Xu ; Welch, Ryan P ; Yoon, Joon ; Zhang, Weihua ; Barzilai, Nir ; Voight, Benjamin F ; Han, Bok-Ghee ; Jenkinson, Christopher P ; Kuulasmaa, Teemu ; Kuusisto, Johanna ; Manning, Alisa ; Ng, Maggie C Y ; Palmer, Nicholette D ; Balkau, Beverley ; Stančáková, Alena ; Abboud, Hanna E ; Boeing, Heiner ; Giedraitis, Vilmantas ; Prabhakaran, Dorairaj ; Gottesman, Omri ; Scott, James ; Carey, Jason ; Kwan, Phoenix ; Grant, George ; Smith, Joshua D ; Neale, Benjamin M ; Purcell, Shaun ; Butterworth, Adam S ; Howson, Joanna M M ; Lee, Heung Man ; Lu, Yingchang ; Kwak, Soo-Heon ; Zhao, Wei ; Danesh, John ; Lam, Vincent K L ; Park, Kyong Soo ; Saleheen, Danish ; So, Wing Yee ; Tam, Claudia H T ; Afzal, Uzma ; Aguilar, David ; Arya, Rector ; Aung, Tin ; Chan, Edmund ; Navarro, Carmen ; Cheng, Ching-Yu ; Palli, Domenico ; Correa, Adolfo ; Curran, Joanne E ; Rybin, Dennis ; Farook, Vidya S ; Fowler, Sharon P ; Freedman, Barry I ; Griswold, Michael ; Hale, Daniel Esten ; Hicks, Pamela J ; Khor, Chiea-Chuen ; Kumar, Satish ; Lehne, Benjamin ; Thuillier, Dorothée ; Lim, Wei Yen ; Liu, Jianjun ; Loh, Marie ; Musani, Solomon K ; Puppala, Sobha ; Scott, William R ; Yengo, Loïc ; Tan, Sian-Tsung ; Taylor, Herman A ; Thameem, Farook ; Wilson, Gregory ; Wong, Tien Yin ; Njølstad, Pål Rasmus ; Levy, Jonathan C ; Mangino, Massimo ; Bonnycastle, Lori L ; Schwarzmayr, Thomas ; Fadista, João ; Surdulescu, Gabriela L ; Herder, Christian ; Groves, Christopher J ; Wieland, Thomas ; Bork-Jensen, Jette ; Brandslund, Ivan ; Christensen, Cramer ; Koistinen, Heikki A ; Doney, Alex S. F. ; Kinnunen, Leena ; Esko, Tõnu ; Farmer, Andrew J ; Hakaste, Liisa ; Hodgkiss, Dylan ; Kravic, Jasmina ; Lyssenko, Valeri ; Hollensted, Mette ; Jørgensen, Marit E ; Jørgensen, Torben ; Ladenvall, Claes ; Justesen, Johanne Marie ; Käräjämäki, Annemari ; Kriebel, Jennifer ; Rathmann, Wolfgang ; Lannfelt, Lars ; Lauritzen, Torsten ; Narisu, Narisu ; Linneberg, Allan ; Melander, Olle ; Milani, Lili ; Neville, Matt ; Orho-Melander, Marju ; Qi, Lu ; Qi, Qibin ; Roden, Michael ; Rolandsson, Olov ; Swift, Amy ; Rosengren, Anders H ; Stirrups, Kathleen ; Wood, Andrew R ; Mihailov, Evelin ; Blancher, Christine ; Carneiro, Mauricio O ; Maguire, Jared ; Poplin, Ryan ; Shakir, Khalid ; Fennell, Timothy ; DePristo, Mark ; de Angelis, Martin Hrabé ; Deloukas, Panos ; Gjesing, Anette P ; Jun, Goo ; Nilsson, Peter ; Murphy, Jacquelyn ; Onofrio, Robert ; Thorand, Barbara ; Hansen, Torben ; Meisinger, Christa ; Hu, Frank B ; Isomaa, Bo ; Karpe, Fredrik ; Liang, Liming ; Peters, Annette ; Huth, Cornelia ; O'Rahilly, Stephen P ; Palmer, Colin N. A. ; Pedersen, Oluf ; Rauramaa, Rainer ; Tuomilehto, Jaakko ; Salomaa, Veikko ; Watanabe, Richard M ; Syvänen, Ann-Christine ; Bergman, Richard N ; Bharadwaj, Dwaipayan ; Bottinger, Erwin P ; Cho, Yoon Shin ; Chandak, Giriraj R ; Chan, Juliana Cn ; Chia, Kee Seng ; Daly, Mark J ; Ebrahim, Shah B ; Langenberg, Claudia ; Elliott, Paul ; Jablonski, Kathleen A ; Lehman, Donna M ; Jia, Weiping ; Ma, Ronald C W ; Pollin, Toni I ; Sandhu, Manjinder ; Tandon, Nikhil ; Froguel, Philippe ; Barroso, Inês ; Teo, Yik Ying ; Zeggini, Eleftheria ; Loos, Ruth J F ; Small, Kerrin S ; Ried, Janina S ; DeFronzo, Ralph A ; Grallert, Harald ; Glaser, Benjamin ; Metspalu, Andres ; Wareham, Nicholas J ; Walker, Mark ; Banks, Eric ; Gieger, Christian ; Ingelsson, Erik ; Im, Hae Kyung ; Illig, Thomas ; Franks, Paul W ; Buck, Gemma ; Trakalo, Joseph ; Buck, David ; Prokopenko, Inga ; Mägi, Reedik ; Lind, Lars ; Farjoun, Yossi ; Owen, Katharine R ; Gloyn, Anna L ; Strauch, Konstantin ; Tuomi, Tiinamaija ; Kooner, Jaspal Singh ; Lee, Jong-Young ; Park, Taesung ; Donnelly, Peter ; Morris, Andrew D. ; Hattersley, Andrew T ; Bowden, Donald W ; Collins, Francis S ; Atzmon, Gil ; Chambers, John C ; Spector, Timothy D ; Laakso, Markku ; Strom, Tim M ; Bell, Graeme I ; Blangero, John ; Duggirala, Ravindranath ; Tai, E Shyong ; McVean, Gilean ; Hanis, Craig L ; Wilson, James G ; Seielstad, Mark ; Frayling, Timothy M ; Meigs, James B ; Cox, Nancy J ; Sladek, Rob ; Lander, Eric S ; Gabriel, Stacey ; Mohlke, Karen L ; Meitinger, Thomas ; Groop, Leif ; Abecasis, Goncalo ; Scott, Laura J ; Morris, Andrew P. ; Kang, Hyun Min ; Altshuler, David ; Burtt, Noël P ; Florez, Jose C ; Boehnke, Michael ; McCarthy, Mark I. / Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. In: Scientific Data. 2017 ; Vol. 4. pp. 1-20.
@article{cffad0b0316148acb82fba4a96922e16,
title = "Sequence data and association statistics from 12,940 type 2 diabetes cases and controls",
abstract = "To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.",
keywords = "Journal article, DNA sequencing , Genome-wide association studies , Type 2 diabetes",
author = "Flannick Jason and Christian Fuchsberger and Anubha Mahajan and Teslovich, {Tanya M} and Vineeta Agarwala and Gaulton, {Kyle J} and Lizz Caulkins and Ryan Koesterer and Clement Ma and Loukas Moutsianas and McCarthy, {Davis J} and Rivas, {Manuel A} and Perry, {John R B} and Xueling Sim and Blackwell, {Thomas W} and Robertson, {Neil R} and Rayner, {N William} and Pablo Cingolani and Locke, {Adam E} and Tajes, {Juan Fernandez} and Highland, {Heather M} and Josee Dupuis and Chines, {Peter S} and Lindgren, {Cecilia M} and Christopher Hartl and Jackson, {Anne U} and Han Chen and Huyghe, {Jeroen R} and {van de Bunt}, Martijn and Pearson, {Richard D} and Ashish Kumar and Martina M{\"u}ller-Nurasyid and Niels Grarup and Stringham, {Heather M} and Gamazon, {Eric R} and Jaehoon Lee and Yuhui Chen and Scott, {Robert A} and Below, {Jennifer E} and Peng Chen and Jinyan Huang and Go, {Min Jin} and Stitzel, {Michael L} and Dorota Pasko and Parker, {Stephen C J} and Varga, {Tibor V} and Todd Green and Beer, {Nicola L} and Day-Williams, {Aaron G} and Teresa Ferreira and Tasha Fingerlin and Momoko Horikoshi and Cheng Hu and Iksoo Huh and Ikram, {Mohammad Kamran} and Bong-Jo Kim and Yongkang Kim and Kim, {Young Jin} and Min-Seok Kwon and Juyoung Lee and Selyeong Lee and Keng-Han Lin and Maxwell, {Taylor J} and Yoshihiko Nagai and Xu Wang and Welch, {Ryan P} and Joon Yoon and Weihua Zhang and Nir Barzilai and Voight, {Benjamin F} and Bok-Ghee Han and Jenkinson, {Christopher P} and Teemu Kuulasmaa and Johanna Kuusisto and Alisa Manning and Ng, {Maggie C Y} and Palmer, {Nicholette D} and Beverley Balkau and Alena Stan{\v c}{\'a}kov{\'a} and Abboud, {Hanna E} and Heiner Boeing and Vilmantas Giedraitis and Dorairaj Prabhakaran and Omri Gottesman and James Scott and Jason Carey and Phoenix Kwan and George Grant and Smith, {Joshua D} and Neale, {Benjamin M} and Shaun Purcell and Butterworth, {Adam S} and Howson, {Joanna M M} and Lee, {Heung Man} and Yingchang Lu and Soo-Heon Kwak and Wei Zhao and John Danesh and Lam, {Vincent K L} and Park, {Kyong Soo} and Danish Saleheen and So, {Wing Yee} and Tam, {Claudia H T} and Uzma Afzal and David Aguilar and Rector Arya and Tin Aung and Edmund Chan and Carmen Navarro and Ching-Yu Cheng and Domenico Palli and Adolfo Correa and Curran, {Joanne E} and Dennis Rybin and Farook, {Vidya S} and Fowler, {Sharon P} and Freedman, {Barry I} and Michael Griswold and Hale, {Daniel Esten} and Hicks, {Pamela J} and Chiea-Chuen Khor and Satish Kumar and Benjamin Lehne and Doroth{\'e}e Thuillier and Lim, {Wei Yen} and Jianjun Liu and Marie Loh and Musani, {Solomon K} and Sobha Puppala and Scott, {William R} and Lo{\"i}c Yengo and Sian-Tsung Tan and Taylor, {Herman A} and Farook Thameem and Gregory Wilson and Wong, {Tien Yin} and Nj{\o}lstad, {P{\aa}l Rasmus} and Levy, {Jonathan C} and Massimo Mangino and Bonnycastle, {Lori L} and Thomas Schwarzmayr and Jo{\~a}o Fadista and Surdulescu, {Gabriela L} and Christian Herder and Groves, {Christopher J} and Thomas Wieland and Jette Bork-Jensen and Ivan Brandslund and Cramer Christensen and Koistinen, {Heikki A} and Doney, {Alex S. F.} and Leena Kinnunen and T{\~o}nu Esko and Farmer, {Andrew J} and Liisa Hakaste and Dylan Hodgkiss and Jasmina Kravic and Valeri Lyssenko and Mette Hollensted and J{\o}rgensen, {Marit E} and Torben J{\o}rgensen and Claes Ladenvall and Justesen, {Johanne Marie} and Annemari K{\"a}r{\"a}j{\"a}m{\"a}ki and Jennifer Kriebel and Wolfgang Rathmann and Lars Lannfelt and Torsten Lauritzen and Narisu Narisu and Allan Linneberg and Olle Melander and Lili Milani and Matt Neville and Marju Orho-Melander and Lu Qi and Qibin Qi and Michael Roden and Olov Rolandsson and Amy Swift and Rosengren, {Anders H} and Kathleen Stirrups and Wood, {Andrew R} and Evelin Mihailov and Christine Blancher and Carneiro, {Mauricio O} and Jared Maguire and Ryan Poplin and Khalid Shakir and Timothy Fennell and Mark DePristo and {de Angelis}, {Martin Hrab{\'e}} and Panos Deloukas and Gjesing, {Anette P} and Goo Jun and Peter Nilsson and Jacquelyn Murphy and Robert Onofrio and Barbara Thorand and Torben Hansen and Christa Meisinger and Hu, {Frank B} and Bo Isomaa and Fredrik Karpe and Liming Liang and Annette Peters and Cornelia Huth and O'Rahilly, {Stephen P} and Palmer, {Colin N. A.} and Oluf Pedersen and Rainer Rauramaa and Jaakko Tuomilehto and Veikko Salomaa and Watanabe, {Richard M} and Ann-Christine Syv{\"a}nen and Bergman, {Richard N} and Dwaipayan Bharadwaj and Bottinger, {Erwin P} and Cho, {Yoon Shin} and Chandak, {Giriraj R} and Chan, {Juliana Cn} and Chia, {Kee Seng} and Daly, {Mark J} and Ebrahim, {Shah B} and Claudia Langenberg and Paul Elliott and Jablonski, {Kathleen A} and Lehman, {Donna M} and Weiping Jia and Ma, {Ronald C W} and Pollin, {Toni I} and Manjinder Sandhu and Nikhil Tandon and Philippe Froguel and In{\^e}s Barroso and Teo, {Yik Ying} and Eleftheria Zeggini and Loos, {Ruth J F} and Small, {Kerrin S} and Ried, {Janina S} and DeFronzo, {Ralph A} and Harald Grallert and Benjamin Glaser and Andres Metspalu and Wareham, {Nicholas J} and Mark Walker and Eric Banks and Christian Gieger and Erik Ingelsson and Im, {Hae Kyung} and Thomas Illig and Franks, {Paul W} and Gemma Buck and Joseph Trakalo and David Buck and Inga Prokopenko and Reedik M{\"a}gi and Lars Lind and Yossi Farjoun and Owen, {Katharine R} and Gloyn, {Anna L} and Konstantin Strauch and Tiinamaija Tuomi and Kooner, {Jaspal Singh} and Jong-Young Lee and Taesung Park and Peter Donnelly and Morris, {Andrew D.} and Hattersley, {Andrew T} and Bowden, {Donald W} and Collins, {Francis S} and Gil Atzmon and Chambers, {John C} and Spector, {Timothy D} and Markku Laakso and Strom, {Tim M} and Bell, {Graeme I} and John Blangero and Ravindranath Duggirala and Tai, {E Shyong} and Gilean McVean and Hanis, {Craig L} and Wilson, {James G} and Mark Seielstad and Frayling, {Timothy M} and Meigs, {James B} and Cox, {Nancy J} and Rob Sladek and Lander, {Eric S} and Stacey Gabriel and Mohlke, {Karen L} and Thomas Meitinger and Leif Groop and Goncalo Abecasis and Scott, {Laura J} and Morris, {Andrew P.} and Kang, {Hyun Min} and David Altshuler and Burtt, {No{\"e}l P} and Florez, {Jose C} and Michael Boehnke and McCarthy, {Mark I}",
note = "Grant support and acknowledgments are listed in the Supplementary Information.",
year = "2017",
month = dec,
day = "19",
doi = "10.1038/sdata.2017.179",
language = "English",
volume = "4",
pages = "1--20",
journal = "Scientific Data",
issn = "2052-4436",
publisher = "Nature Publishing Group",
}
Jason, F, Fuchsberger, C, Mahajan, A, Teslovich, TM, Agarwala, V, Gaulton, KJ, Caulkins, L, Koesterer, R, Ma, C, Moutsianas, L, McCarthy, DJ, Rivas, MA, Perry, JRB, Sim, X, Blackwell, TW, Robertson, NR, Rayner, NW, Cingolani, P, Locke, AE, Tajes, JF, Highland, HM, Dupuis, J, Chines, PS, Lindgren, CM, Hartl, C, Jackson, AU, Chen, H, Huyghe, JR, van de Bunt, M, Pearson, RD, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, HM, Gamazon, ER, Lee, J, Chen, Y, Scott, RA, Below, JE, Chen, P, Huang, J, Go, MJ, Stitzel, ML, Pasko, D, Parker, SCJ, Varga, TV, Green, T, Beer, NL, Day-Williams, AG, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, MK, Kim, B-J, Kim, Y, Kim, YJ, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, TJ, Nagai, Y, Wang, X, Welch, RP, Yoon, J, Zhang, W, Barzilai, N, Voight, BF, Han, B-G, Jenkinson, CP, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, MCY, Palmer, ND, Balkau, B, Stančáková, A, Abboud, HE, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, JD, Neale, BM, Purcell, S, Butterworth, AS, Howson, JMM, Lee, HM, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, VKL, Park, KS, Saleheen, D, So, WY, Tam, CHT, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, JE, Rybin, D, Farook, VS, Fowler, SP, Freedman, BI, Griswold, M, Hale, DE, Hicks, PJ, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, WY, Liu, J, Loh, M, Musani, SK, Puppala, S, Scott, WR, Yengo, L, Tan, S-T, Taylor, HA, Thameem, F, Wilson, G, Wong, TY, Njølstad, PR, Levy, JC, Mangino, M, Bonnycastle, LL, Schwarzmayr, T, Fadista, J, Surdulescu, GL, Herder, C, Groves, CJ, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, HA, Doney, ASF, Kinnunen, L, Esko, T, Farmer, AJ, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, ME, Jørgensen, T, Ladenvall, C, Justesen, JM, 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, AH, Stirrups, K, Wood, AR, Mihailov, E, Blancher, C, Carneiro, MO, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, de Angelis, MH, Deloukas, P, Gjesing, AP, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, FB, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, SP, Palmer, CNA, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, RM, Syvänen, A-C, Bergman, RN, Bharadwaj, D, Bottinger, EP, Cho, YS, Chandak, GR, Chan, JC, Chia, KS, Daly, MJ, Ebrahim, SB, Langenberg, C, Elliott, P, Jablonski, KA, Lehman, DM, Jia, W, Ma, RCW, Pollin, TI, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, YY, Zeggini, E, Loos, RJF, Small, KS, Ried, JS, DeFronzo, RA, Grallert, H, Glaser, B, Metspalu, A, Wareham, NJ, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, HK, Illig, T, Franks, PW, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, KR, Gloyn, AL, Strauch, K, Tuomi, T, Kooner, JS, Lee, J-Y, Park, T, Donnelly, P, Morris, AD, Hattersley, AT, Bowden, DW, Collins, FS, Atzmon, G, Chambers, JC, Spector, TD, Laakso, M, Strom, TM, Bell, GI, Blangero, J, Duggirala, R, Tai, ES, McVean, G, Hanis, CL, Wilson, JG, Seielstad, M, Frayling, TM, Meigs, JB, Cox, NJ, Sladek, R, Lander, ES, Gabriel, S, Mohlke, KL, Meitinger, T, Groop, L, Abecasis, G, Scott, LJ, Morris, AP, Kang, HM, Altshuler, D, Burtt, NP, Florez, JC, Boehnke, M & McCarthy, MI 2017, 'Sequence data and association statistics from 12,940 type 2 diabetes cases and controls', Scientific Data, vol. 4, 170179, pp. 1-20. https://doi.org/10.1038/sdata.2017.179
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. / Jason, Flannick (Lead / Corresponding author); Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M; Agarwala, Vineeta; Gaulton, Kyle J; Caulkins, Lizz; Koesterer, Ryan; Ma, Clement; Moutsianas, Loukas; McCarthy, Davis J; Rivas, Manuel A; Perry, John R B; Sim, Xueling; Blackwell, Thomas W; Robertson, Neil R; Rayner, N William; Cingolani, Pablo; Locke, Adam E; Tajes, Juan Fernandez; Highland, Heather M; Dupuis, Josee; Chines, Peter S; Lindgren, Cecilia M; Hartl, Christopher; Jackson, Anne U; Chen, Han; Huyghe, Jeroen R; van de Bunt, Martijn; Pearson, Richard D; Kumar, Ashish; Müller-Nurasyid, Martina; Grarup, Niels; Stringham, Heather M; Gamazon, Eric R; Lee, Jaehoon; Chen, Yuhui; Scott, Robert A; Below, Jennifer E; Chen, Peng; Huang, Jinyan; Go, Min Jin; Stitzel, Michael L; Pasko, Dorota; Parker, Stephen C J; Varga, Tibor V; Green, Todd; Beer, Nicola L; Day-Williams, Aaron G; Ferreira, Teresa; Fingerlin, Tasha; Horikoshi, Momoko; Hu, Cheng; Huh, Iksoo; Ikram, Mohammad Kamran; Kim, Bong-Jo; Kim, Yongkang; Kim, Young Jin; Kwon, Min-Seok; Lee, Juyoung; Lee, Selyeong; Lin, Keng-Han; Maxwell, Taylor J; Nagai, Yoshihiko; Wang, Xu; Welch, Ryan P; Yoon, Joon; Zhang, Weihua; Barzilai, Nir; Voight, Benjamin F; Han, Bok-Ghee; Jenkinson, Christopher P; Kuulasmaa, Teemu; Kuusisto, Johanna; Manning, Alisa; Ng, Maggie C Y; Palmer, Nicholette D; Balkau, Beverley; Stančáková, Alena; Abboud, Hanna E; Boeing, Heiner; Giedraitis, Vilmantas; Prabhakaran, Dorairaj; Gottesman, Omri; Scott, James; Carey, Jason; Kwan, Phoenix; Grant, George; Smith, Joshua D; Neale, Benjamin M; Purcell, Shaun; Butterworth, Adam S; Howson, Joanna M M; Lee, Heung Man; Lu, Yingchang; Kwak, Soo-Heon; Zhao, Wei; Danesh, John; Lam, Vincent K L; Park, Kyong Soo; Saleheen, Danish; So, Wing Yee; Tam, Claudia H T; Afzal, Uzma; Aguilar, David; Arya, Rector; Aung, Tin; Chan, Edmund; Navarro, Carmen; Cheng, Ching-Yu; Palli, Domenico; Correa, Adolfo; Curran, Joanne E; Rybin, Dennis; Farook, Vidya S; Fowler, Sharon P; Freedman, Barry I; Griswold, Michael; Hale, Daniel Esten; Hicks, Pamela J; Khor, Chiea-Chuen; Kumar, Satish; Lehne, Benjamin; Thuillier, Dorothée; Lim, Wei Yen; Liu, Jianjun; Loh, Marie; Musani, Solomon K; Puppala, Sobha; Scott, William R; Yengo, Loïc; Tan, Sian-Tsung; Taylor, Herman A; Thameem, Farook; Wilson, Gregory; Wong, Tien Yin; Njølstad, Pål Rasmus; Levy, Jonathan C; Mangino, Massimo; Bonnycastle, Lori L; Schwarzmayr, Thomas; Fadista, João; Surdulescu, Gabriela L; Herder, Christian; Groves, Christopher J; Wieland, Thomas; Bork-Jensen, Jette; Brandslund, Ivan; Christensen, Cramer; Koistinen, Heikki A; Doney, Alex S. F.; Kinnunen, Leena; Esko, Tõnu; Farmer, Andrew J; Hakaste, Liisa; Hodgkiss, Dylan; Kravic, Jasmina; Lyssenko, Valeri; Hollensted, Mette; Jørgensen, Marit E; Jørgensen, Torben; Ladenvall, Claes; Justesen, Johanne Marie; Käräjämäki, Annemari; Kriebel, Jennifer; Rathmann, Wolfgang; Lannfelt, Lars; Lauritzen, Torsten; Narisu, Narisu; Linneberg, Allan; Melander, Olle; Milani, Lili; Neville, Matt; Orho-Melander, Marju; Qi, Lu; Qi, Qibin; Roden, Michael; Rolandsson, Olov; Swift, Amy; Rosengren, Anders H; Stirrups, Kathleen; Wood, Andrew R; Mihailov, Evelin; Blancher, Christine; Carneiro, Mauricio O; Maguire, Jared; Poplin, Ryan; Shakir, Khalid; Fennell, Timothy; DePristo, Mark; de Angelis, Martin Hrabé; Deloukas, Panos; Gjesing, Anette P; Jun, Goo; Nilsson, Peter; Murphy, Jacquelyn; Onofrio, Robert; Thorand, Barbara; Hansen, Torben; Meisinger, Christa; Hu, Frank B; Isomaa, Bo; Karpe, Fredrik; Liang, Liming; Peters, Annette; Huth, Cornelia; O'Rahilly, Stephen P; Palmer, Colin N. A.; Pedersen, Oluf; Rauramaa, Rainer; Tuomilehto, Jaakko; Salomaa, Veikko; Watanabe, Richard M; Syvänen, Ann-Christine; Bergman, Richard N; Bharadwaj, Dwaipayan; Bottinger, Erwin P; Cho, Yoon Shin; Chandak, Giriraj R; Chan, Juliana Cn; Chia, Kee Seng; Daly, Mark J; Ebrahim, Shah B; Langenberg, Claudia; Elliott, Paul; Jablonski, Kathleen A; Lehman, Donna M; Jia, Weiping; Ma, Ronald C W; Pollin, Toni I; Sandhu, Manjinder; Tandon, Nikhil; Froguel, Philippe; Barroso, Inês; Teo, Yik Ying; Zeggini, Eleftheria; Loos, Ruth J F; Small, Kerrin S; Ried, Janina S; DeFronzo, Ralph A; Grallert, Harald; Glaser, Benjamin; Metspalu, Andres; Wareham, Nicholas J; Walker, Mark; Banks, Eric; Gieger, Christian; Ingelsson, Erik; Im, Hae Kyung; Illig, Thomas; Franks, Paul W; Buck, Gemma; Trakalo, Joseph; Buck, David; Prokopenko, Inga; Mägi, Reedik; Lind, Lars; Farjoun, Yossi; Owen, Katharine R; Gloyn, Anna L; Strauch, Konstantin; Tuomi, Tiinamaija; Kooner, Jaspal Singh; Lee, Jong-Young; Park, Taesung; Donnelly, Peter; Morris, Andrew D.; Hattersley, Andrew T; Bowden, Donald W; Collins, Francis S; Atzmon, Gil; Chambers, John C; Spector, Timothy D; Laakso, Markku; Strom, Tim M; Bell, Graeme I; Blangero, John; Duggirala, Ravindranath; Tai, E Shyong; McVean, Gilean; Hanis, Craig L; Wilson, James G; Seielstad, Mark; Frayling, Timothy M; Meigs, James B; Cox, Nancy J; Sladek, Rob; Lander, Eric S; Gabriel, Stacey; Mohlke, Karen L; Meitinger, Thomas; Groop, Leif; Abecasis, Goncalo; Scott, Laura J; Morris, Andrew P.; Kang, Hyun Min; Altshuler, David; Burtt, Noël P; Florez, Jose C; Boehnke, Michael; McCarthy, Mark I.
In: Scientific Data, Vol. 4, 170179, 19.12.2017, p. 1-20.Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
AU - Jason, Flannick
AU - Fuchsberger, Christian
AU - Mahajan, Anubha
AU - Teslovich, Tanya M
AU - Agarwala, Vineeta
AU - Gaulton, Kyle J
AU - Caulkins, Lizz
AU - Koesterer, Ryan
AU - Ma, Clement
AU - Moutsianas, Loukas
AU - McCarthy, Davis J
AU - Rivas, Manuel A
AU - Perry, John R B
AU - Sim, Xueling
AU - Blackwell, Thomas W
AU - Robertson, Neil R
AU - Rayner, N William
AU - Cingolani, Pablo
AU - Locke, Adam E
AU - Tajes, Juan Fernandez
AU - Highland, Heather M
AU - Dupuis, Josee
AU - Chines, Peter S
AU - Lindgren, Cecilia M
AU - Hartl, Christopher
AU - Jackson, Anne U
AU - Chen, Han
AU - Huyghe, Jeroen R
AU - van de Bunt, Martijn
AU - Pearson, Richard D
AU - Kumar, Ashish
AU - Müller-Nurasyid, Martina
AU - Grarup, Niels
AU - Stringham, Heather M
AU - Gamazon, Eric R
AU - Lee, Jaehoon
AU - Chen, Yuhui
AU - Scott, Robert A
AU - Below, Jennifer E
AU - Chen, Peng
AU - Huang, Jinyan
AU - Go, Min Jin
AU - Stitzel, Michael L
AU - Pasko, Dorota
AU - Parker, Stephen C J
AU - Varga, Tibor V
AU - Green, Todd
AU - Beer, Nicola L
AU - Day-Williams, Aaron G
AU - Ferreira, Teresa
AU - Fingerlin, Tasha
AU - Horikoshi, Momoko
AU - Hu, Cheng
AU - Huh, Iksoo
AU - Ikram, Mohammad Kamran
AU - Kim, Bong-Jo
AU - Kim, Yongkang
AU - Kim, Young Jin
AU - Kwon, Min-Seok
AU - Lee, Juyoung
AU - Lee, Selyeong
AU - Lin, Keng-Han
AU - Maxwell, Taylor J
AU - Nagai, Yoshihiko
AU - Wang, Xu
AU - Welch, Ryan P
AU - Yoon, Joon
AU - Zhang, Weihua
AU - Barzilai, Nir
AU - Voight, Benjamin F
AU - Han, Bok-Ghee
AU - Jenkinson, Christopher P
AU - Kuulasmaa, Teemu
AU - Kuusisto, Johanna
AU - Manning, Alisa
AU - Ng, Maggie C Y
AU - Palmer, Nicholette D
AU - Balkau, Beverley
AU - Stančáková, Alena
AU - Abboud, Hanna E
AU - Boeing, Heiner
AU - Giedraitis, Vilmantas
AU - Prabhakaran, Dorairaj
AU - Gottesman, Omri
AU - Scott, James
AU - Carey, Jason
AU - Kwan, Phoenix
AU - Grant, George
AU - Smith, Joshua D
AU - Neale, Benjamin M
AU - Purcell, Shaun
AU - Butterworth, Adam S
AU - Howson, Joanna M M
AU - Lee, Heung Man
AU - Lu, Yingchang
AU - Kwak, Soo-Heon
AU - Zhao, Wei
AU - Danesh, John
AU - Lam, Vincent K L
AU - Park, Kyong Soo
AU - Saleheen, Danish
AU - So, Wing Yee
AU - Tam, Claudia H T
AU - Afzal, Uzma
AU - Aguilar, David
AU - Arya, Rector
AU - Aung, Tin
AU - Chan, Edmund
AU - Navarro, Carmen
AU - Cheng, Ching-Yu
AU - Palli, Domenico
AU - Correa, Adolfo
AU - Curran, Joanne E
AU - Rybin, Dennis
AU - Farook, Vidya S
AU - Fowler, Sharon P
AU - Freedman, Barry I
AU - Griswold, Michael
AU - Hale, Daniel Esten
AU - Hicks, Pamela J
AU - Khor, Chiea-Chuen
AU - Kumar, Satish
AU - Lehne, Benjamin
AU - Thuillier, Dorothée
AU - Lim, Wei Yen
AU - Liu, Jianjun
AU - Loh, Marie
AU - Musani, Solomon K
AU - Puppala, Sobha
AU - Scott, William R
AU - Yengo, Loïc
AU - Tan, Sian-Tsung
AU - Taylor, Herman A
AU - Thameem, Farook
AU - Wilson, Gregory
AU - Wong, Tien Yin
AU - Njølstad, Pål Rasmus
AU - Levy, Jonathan C
AU - Mangino, Massimo
AU - Bonnycastle, Lori L
AU - Schwarzmayr, Thomas
AU - Fadista, João
AU - Surdulescu, Gabriela L
AU - Herder, Christian
AU - Groves, Christopher J
AU - Wieland, Thomas
AU - Bork-Jensen, Jette
AU - Brandslund, Ivan
AU - Christensen, Cramer
AU - Koistinen, Heikki A
AU - Doney, Alex S. F.
AU - Kinnunen, Leena
AU - Esko, Tõnu
AU - Farmer, Andrew J
AU - Hakaste, Liisa
AU - Hodgkiss, Dylan
AU - Kravic, Jasmina
AU - Lyssenko, Valeri
AU - Hollensted, Mette
AU - Jørgensen, Marit E
AU - Jørgensen, Torben
AU - Ladenvall, Claes
AU - Justesen, Johanne Marie
AU - Käräjämäki, Annemari
AU - Kriebel, Jennifer
AU - Rathmann, Wolfgang
AU - Lannfelt, Lars
AU - Lauritzen, Torsten
AU - Narisu, Narisu
AU - Linneberg, Allan
AU - Melander, Olle
AU - Milani, Lili
AU - Neville, Matt
AU - Orho-Melander, Marju
AU - Qi, Lu
AU - Qi, Qibin
AU - Roden, Michael
AU - Rolandsson, Olov
AU - Swift, Amy
AU - Rosengren, Anders H
AU - Stirrups, Kathleen
AU - Wood, Andrew R
AU - Mihailov, Evelin
AU - Blancher, Christine
AU - Carneiro, Mauricio O
AU - Maguire, Jared
AU - Poplin, Ryan
AU - Shakir, Khalid
AU - Fennell, Timothy
AU - DePristo, Mark
AU - de Angelis, Martin Hrabé
AU - Deloukas, Panos
AU - Gjesing, Anette P
AU - Jun, Goo
AU - Nilsson, Peter
AU - Murphy, Jacquelyn
AU - Onofrio, Robert
AU - Thorand, Barbara
AU - Hansen, Torben
AU - Meisinger, Christa
AU - Hu, Frank B
AU - Isomaa, Bo
AU - Karpe, Fredrik
AU - Liang, Liming
AU - Peters, Annette
AU - Huth, Cornelia
AU - O'Rahilly, Stephen P
AU - Palmer, Colin N. A.
AU - Pedersen, Oluf
AU - Rauramaa, Rainer
AU - Tuomilehto, Jaakko
AU - Salomaa, Veikko
AU - Watanabe, Richard M
AU - Syvänen, Ann-Christine
AU - Bergman, Richard N
AU - Bharadwaj, Dwaipayan
AU - Bottinger, Erwin P
AU - Cho, Yoon Shin
AU - Chandak, Giriraj R
AU - Chan, Juliana Cn
AU - Chia, Kee Seng
AU - Daly, Mark J
AU - Ebrahim, Shah B
AU - Langenberg, Claudia
AU - Elliott, Paul
AU - Jablonski, Kathleen A
AU - Lehman, Donna M
AU - Jia, Weiping
AU - Ma, Ronald C W
AU - Pollin, Toni I
AU - Sandhu, Manjinder
AU - Tandon, Nikhil
AU - Froguel, Philippe
AU - Barroso, Inês
AU - Teo, Yik Ying
AU - Zeggini, Eleftheria
AU - Loos, Ruth J F
AU - Small, Kerrin S
AU - Ried, Janina S
AU - DeFronzo, Ralph A
AU - Grallert, Harald
AU - Glaser, Benjamin
AU - Metspalu, Andres
AU - Wareham, Nicholas J
AU - Walker, Mark
AU - Banks, Eric
AU - Gieger, Christian
AU - Ingelsson, Erik
AU - Im, Hae Kyung
AU - Illig, Thomas
AU - Franks, Paul W
AU - Buck, Gemma
AU - Trakalo, Joseph
AU - Buck, David
AU - Prokopenko, Inga
AU - Mägi, Reedik
AU - Lind, Lars
AU - Farjoun, Yossi
AU - Owen, Katharine R
AU - Gloyn, Anna L
AU - Strauch, Konstantin
AU - Tuomi, Tiinamaija
AU - Kooner, Jaspal Singh
AU - Lee, Jong-Young
AU - Park, Taesung
AU - Donnelly, Peter
AU - Morris, Andrew D.
AU - Hattersley, Andrew T
AU - Bowden, Donald W
AU - Collins, Francis S
AU - Atzmon, Gil
AU - Chambers, John C
AU - Spector, Timothy D
AU - Laakso, Markku
AU - Strom, Tim M
AU - Bell, Graeme I
AU - Blangero, John
AU - Duggirala, Ravindranath
AU - Tai, E Shyong
AU - McVean, Gilean
AU - Hanis, Craig L
AU - Wilson, James G
AU - Seielstad, Mark
AU - Frayling, Timothy M
AU - Meigs, James B
AU - Cox, Nancy J
AU - Sladek, Rob
AU - Lander, Eric S
AU - Gabriel, Stacey
AU - Mohlke, Karen L
AU - Meitinger, Thomas
AU - Groop, Leif
AU - Abecasis, Goncalo
AU - Scott, Laura J
AU - Morris, Andrew P.
AU - Kang, Hyun Min
AU - Altshuler, David
AU - Burtt, Noël P
AU - Florez, Jose C
AU - Boehnke, Michael
AU - McCarthy, Mark I
N1 - Grant support and acknowledgments are listed in the Supplementary Information.
PY - 2017/12/19
Y1 - 2017/12/19
N2 - To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
AB - To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
KW - Journal article
KW - DNA sequencing
KW - Genome-wide association studies
KW - Type 2 diabetes
U2 - 10.1038/sdata.2017.179
DO - 10.1038/sdata.2017.179
M3 - Article
C2 - 29257133
VL - 4
SP - 1
EP - 20
JO - Scientific Data
JF - Scientific Data
SN - 2052-4436
M1 - 170179
ER -
Jason F, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ et al. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 2017 Dec 19;4:1-20. 170179. https://doi.org/10.1038/sdata.2017.179