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Start Over Author "Fowler, Sharon P" Publisher uppsala universitet, geriatrik
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1. Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Author

Flannick, Jason, 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, Josée, 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, Valeriya, 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 M., 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 C.N., 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, Eshyong, 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., Clinicum, Department of Medicine, Endokrinologian yksikkö, Research Programs Unit, Diabetes and Obesity Research Program, Institute for Molecular Medicine Finland, HUS Internal Medicine and Rehabilitation, and HUS Abdominal Center

Subjects
MUTATIONS, COMMON DISEASES, POPULATION-SCALE, Endocrinology and Diabetes, FRAMEWORK, GENETIC ARCHITECTURE, RARE VARIANTS, DISCOVERY, 3121 General medicine, internal medicine and other clinical medicine, Endokrinologi och diabetes, IMPUTATION, GENOME-WIDE ASSOCIATION, Medical Genetics, METAANALYSIS, Medicinsk genetik
Abstract

Correction: SCIENTIFIC DATA Vol. 5, Article Number: 180182, DOI: 10.1038/sdata.2018.2 Published: JAN 23 2018 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 similar to 82 K Europeans via the exome chip, and similar to 90% of low-frequency non-coding variants in similar to 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.

Published
2017
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2. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Author

Manning, Alisa, Highland, Heather M., Gasser, Jessica, Sim, Xueling, Tukiainen, Taru, Fontanillas, Pierre, Grarup, Niels, Rivas, Manuel A., Mahajan, Anubha, Locke, Adam E., Cingolani, Pablo, Pers, Tune H., Vinuela, Ana, Brown, Andrew A., Wu, Ying, Flannick, Jason, Fuchsberger, Christian, Gamazon, Eric R., Gaulton, Kyle J., Im, Hae Kyung, Teslovich, Tanya M., Blackwell, Thomas W., Bork-Jensen, Jette, Burtt, Noel P., Chen, Yuhui, Green, Todd, Hartl, Christopher, Kang, Hyun Min, Kumar, Ashish, Ladenvall, Claes, Ma, Clement, Moutsianas, Loukas, Pearson, Richard D., Perry, John R. B., Rayner, N. William, Robertson, Neil R., Scott, Laura J., van de Bunt, Martijn, Eriksson, Johan G., Jula, Antti, Koskinen, Seppo, Lehtimaki, Terho, Palotie, Aarno, Raitakari, Olli T., Jacobs, Suzanne B. R., Wessel, Jennifer, Chu, Audrey Y., Scott, Robert A., Goodarzi, Mark O., Blancher, Christine, Buck, Gemma, Buck, David, Chines, Peter S., 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., Trakalo, Joseph, Banks, Eric, Carey, Jason, Carneiro, Mauricio O., DePristo, Mark, Farjoun, Yossi, Fennell, Timothy, Goldstein, Jacqueline I., Grant, George, de Angelis, Martin Hrabe, Maguire, Jared, Neale, Benjamin M., Poplin, Ryan, Purcell, Shaun, Schwarzmayr, Thomas, Shakir, Khalid, Smith, Joshua D., Strom, Tim M., Wieland, Thomas, Lindstrom, Jaana, Brandslund, Ivan, Christensen, Cramer, Surdulescu, Gabriela L., Lakka, Timo A., Doney, Alex S. F., Nilsson, Peter, Wareham, Nicholas J., Langenberg, Claudia, Varga, Tibor V., Franks, Paul W., Rolandsson, Olov, Rosengren, Anders H., Farook, Vidya S., Thameem, Farook, Puppala, Sobha, Kumar, Satish, Lehman, Donna M., Jenkinson, Christopher P., Curran, Joanne E., Hale, Daniel Esten, Fowler, Sharon P., Arya, Rector, DeFronzo, Ralph A., Abboud, Hanna E., Syvänen, Ann-Christine, Hicks, Pamela J., Palmer, Nicholette D., Ng, Maggie C. Y., Bowden, Donald W., Freedman, Barry I., Esko, Tonu, Magi, Reedik, Milani, Lili, Mihailov, Evelin, Metspalu, Andres, Narisu, Narisu, Kinnunen, Leena, Bonnycastle, Lori L., Swift, Amy, Pasko, Dorota, Wood, Andrew R., Fadista, Joao, Pollin, Toni I., Barzilai, Nir, Atzmon, Gil, Glaser, Benjamin, Thorand, Barbara, Strauch, Konstantin, Peters, Annette, Roden, Michael, Mueller-Nurasyid, Martina, Liang, Liming, Kriebel, Jennifer, Illig, Thomas, Grallert, Harald, Gieger, Christian, Meisinger, Christa, Lannfelt, L, Musani, Solomon K., Griswold, Michael, Taylor, Herman A., Jr., Wilson, Gregory, Sr., Correa, Adolfo, Oksa, Heikki, Scott, William R., Afzal, Uzma, Tan, Sian-Tsung, Loh, Marie, Chambers, John C., Sehmi, Jobanpreet, Kooner, Jaspal Singh, Lehne, Benjamin, Cho, Yoon Shin, Lee, Jong-Young, Han, Bok-Ghee, Karajamaki, Annemari, Qi, Qibin, Qi, Lu, Huang, Jinyan, Hu, Frank B., Melander, Olle, Orho-Melander, Marju, Below, Jennifer E., Aguilar, David, Wong, Tien Yin, Liu, Jianjun, Khor, Chiea-Chuen, Chia, Kee Seng, Lim, Wei Yen, Cheng, Ching-Yu, Chan, Edmund, Tai, E. Shyong, Aung, Tin, Linneberg, Allan, Isomaa, Bo, Meitinger, Thomas, Tuomi, Tiinamaija, Hakaste, Liisa, Kravic, Jasmina, Jorgensen, Marit E., Lauritzen, Torsten, Deloukas, Panos, Stirrups, Kathleen E., Owen, Katharine R., Farmer, Andrew J., Frayling, Timothy M., O'Rahilly, Stephen P., Walker, Mark, Levy, Jonathan C., Hodgkiss, Dylan, Hattersley, Andrew T., Kuulasmaa, Teemu, Stancakova, Alena, Barroso, Ines, Bharadwaj, Dwaipayan, Chan, Juliana, Chandak, Giriraj R., Daly, Mark J., Donnelly, Peter J., Ebrahim, Shah B., Elliott, Paul, Fingerlin, Tasha, Froguel, Philippe, Hu, Cheng, Jia, Weiping, Ma, Ronald C. W., McVean, Gilean, Park, Taesung, Prabhakaran, Dorairaj, Sandhu, Manjinder, Scott, James, Sladek, Rob, Tandon, Nikhil, Teo, Yik Ying, Zeggini, Eleftheria, Watanabe, Richard M., Koistinen, Heikki A., Kesaniemi, Y. Antero, Uusitupa, Matti, Spector, Timothy D., Salomaa, Veikko, Rauramaa, Rainer, Palmer, Colin N. A., Prokopenko, Inga, Morris, Andrew D., Bergman, Richard N., Collins, Francis S., Lind, Lars, Ingelsson, Erik, Tuomilehto, Jaakko, Karpe, Fredrik, Groop, Leif, Jorgensen, Torben, Hansen, Torben, Pedersen, Oluf, Kuusisto, Johanna, Abecasis, GonOalo, Bell, Graeme I., Blangero, John, Cox, Nancy J., Duggirala, Ravindranath, Seielstad, Mark, Wilson, James G., Dupuis, Josee, Ripatti, Samuli, Hanis, Craig L., Florez, Jose C., Mohlke, Karen L., Meigs, James B., Laakso, Markku, Morris, Andrew P., Boehnke, Michael, Altshuler, David, McCarthy, Mark I., Gloyn, Anna L., Lindgren, Cecilia M., Manning, Alisa, Highland, Heather M., Gasser, Jessica, Sim, Xueling, Tukiainen, Taru, Fontanillas, Pierre, Grarup, Niels, Rivas, Manuel A., Mahajan, Anubha, Locke, Adam E., Cingolani, Pablo, Pers, Tune H., Vinuela, Ana, Brown, Andrew A., Wu, Ying, Flannick, Jason, Fuchsberger, Christian, Gamazon, Eric R., Gaulton, Kyle J., Im, Hae Kyung, Teslovich, Tanya M., Blackwell, Thomas W., Bork-Jensen, Jette, Burtt, Noel P., Chen, Yuhui, Green, Todd, Hartl, Christopher, Kang, Hyun Min, Kumar, Ashish, Ladenvall, Claes, Ma, Clement, Moutsianas, Loukas, Pearson, Richard D., Perry, John R. B., Rayner, N. William, Robertson, Neil R., Scott, Laura J., van de Bunt, Martijn, Eriksson, Johan G., Jula, Antti, Koskinen, Seppo, Lehtimaki, Terho, Palotie, Aarno, Raitakari, Olli T., Jacobs, Suzanne B. R., Wessel, Jennifer, Chu, Audrey Y., Scott, Robert A., Goodarzi, Mark O., Blancher, Christine, Buck, Gemma, Buck, David, Chines, Peter S., 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., Trakalo, Joseph, Banks, Eric, Carey, Jason, Carneiro, Mauricio O., DePristo, Mark, Farjoun, Yossi, Fennell, Timothy, Goldstein, Jacqueline I., Grant, George, de Angelis, Martin Hrabe, Maguire, Jared, Neale, Benjamin M., Poplin, Ryan, Purcell, Shaun, Schwarzmayr, Thomas, Shakir, Khalid, Smith, Joshua D., Strom, Tim M., Wieland, Thomas, Lindstrom, Jaana, Brandslund, Ivan, Christensen, Cramer, Surdulescu, Gabriela L., Lakka, Timo A., Doney, Alex S. F., Nilsson, Peter, Wareham, Nicholas J., Langenberg, Claudia, Varga, Tibor V., Franks, Paul W., Rolandsson, Olov, Rosengren, Anders H., Farook, Vidya S., Thameem, Farook, Puppala, Sobha, Kumar, Satish, Lehman, Donna M., Jenkinson, Christopher P., Curran, Joanne E., Hale, Daniel Esten, Fowler, Sharon P., Arya, Rector, DeFronzo, Ralph A., Abboud, Hanna E., Syvänen, Ann-Christine, Hicks, Pamela J., Palmer, Nicholette D., Ng, Maggie C. Y., Bowden, Donald W., Freedman, Barry I., Esko, Tonu, Magi, Reedik, Milani, Lili, Mihailov, Evelin, Metspalu, Andres, Narisu, Narisu, Kinnunen, Leena, Bonnycastle, Lori L., Swift, Amy, Pasko, Dorota, Wood, Andrew R., Fadista, Joao, Pollin, Toni I., Barzilai, Nir, Atzmon, Gil, Glaser, Benjamin, Thorand, Barbara, Strauch, Konstantin, Peters, Annette, Roden, Michael, Mueller-Nurasyid, Martina, Liang, Liming, Kriebel, Jennifer, Illig, Thomas, Grallert, Harald, Gieger, Christian, Meisinger, Christa, Lannfelt, L, Musani, Solomon K., Griswold, Michael, Taylor, Herman A., Jr., Wilson, Gregory, Sr., Correa, Adolfo, Oksa, Heikki, Scott, William R., Afzal, Uzma, Tan, Sian-Tsung, Loh, Marie, Chambers, John C., Sehmi, Jobanpreet, Kooner, Jaspal Singh, Lehne, Benjamin, Cho, Yoon Shin, Lee, Jong-Young, Han, Bok-Ghee, Karajamaki, Annemari, Qi, Qibin, Qi, Lu, Huang, Jinyan, Hu, Frank B., Melander, Olle, Orho-Melander, Marju, Below, Jennifer E., Aguilar, David, Wong, Tien Yin, Liu, Jianjun, Khor, Chiea-Chuen, Chia, Kee Seng, Lim, Wei Yen, Cheng, Ching-Yu, Chan, Edmund, Tai, E. Shyong, Aung, Tin, Linneberg, Allan, Isomaa, Bo, Meitinger, Thomas, Tuomi, Tiinamaija, Hakaste, Liisa, Kravic, Jasmina, Jorgensen, Marit E., Lauritzen, Torsten, Deloukas, Panos, Stirrups, Kathleen E., Owen, Katharine R., Farmer, Andrew J., Frayling, Timothy M., O'Rahilly, Stephen P., Walker, Mark, Levy, Jonathan C., Hodgkiss, Dylan, Hattersley, Andrew T., Kuulasmaa, Teemu, Stancakova, Alena, Barroso, Ines, Bharadwaj, Dwaipayan, Chan, Juliana, Chandak, Giriraj R., Daly, Mark J., Donnelly, Peter J., Ebrahim, Shah B., Elliott, Paul, Fingerlin, Tasha, Froguel, Philippe, Hu, Cheng, Jia, Weiping, Ma, Ronald C. W., McVean, Gilean, Park, Taesung, Prabhakaran, Dorairaj, Sandhu, Manjinder, Scott, James, Sladek, Rob, Tandon, Nikhil, Teo, Yik Ying, Zeggini, Eleftheria, Watanabe, Richard M., Koistinen, Heikki A., Kesaniemi, Y. Antero, Uusitupa, Matti, Spector, Timothy D., Salomaa, Veikko, Rauramaa, Rainer, Palmer, Colin N. A., Prokopenko, Inga, Morris, Andrew D., Bergman, Richard N., Collins, Francis S., Lind, Lars, Ingelsson, Erik, Tuomilehto, Jaakko, Karpe, Fredrik, Groop, Leif, Jorgensen, Torben, Hansen, Torben, Pedersen, Oluf, Kuusisto, Johanna, Abecasis, GonOalo, Bell, Graeme I., Blangero, John, Cox, Nancy J., Duggirala, Ravindranath, Seielstad, Mark, Wilson, James G., Dupuis, Josee, Ripatti, Samuli, Hanis, Craig L., Florez, Jose C., Mohlke, Karen L., Meigs, James B., Laakso, Markku, Morris, Andrew P., Boehnke, Michael, Altshuler, David, McCarthy, Mark I., Gloyn, Anna L., and Lindgren, Cecilia M.

Abstract

To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.

Published
2017
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3. The genetic architecture of type 2 diabetes

Author

Fuchsberger, Christian, Flannick, Jason, Teslovich, Tanya M., Mahajan, Anubha, Agarwala, Vineeta, Gaulton, Kyle J., Ma, Clement, Fontanillas, Pierre, 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, Mueller-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, Stancakova, 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, Denis, 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, Dorothee, Lim, Wei Yen, Liu, Jianjun, van der Schouw, Yvonne T., Loh, Marie, Musani, Solomon K., Puppala, Sobha, Scott, William R., Yengo, Loic, Tan, Sian-Tsung, Taylor, Herman A., Jr., Thameem, Farook, Wilson, Gregory, Sr., Wong, Tien Yin, Njolstad, Pal Rasmus, Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Schwarzmayr, Thomas, Fadista, Joao, 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, Tonu, Farmer, Andrew J., Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeriya, Hollensted, Mette, Jorgensen, Marit E., Jorgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Karajamaki, 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 Hrabe, 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., Syvanen, Ann-Christine, Bergman, Richard N., Bharadwaj, Dwaipayan, Bottinger, Erwin P., Cho, Yoon Shin, Chandak, Giriraj R., Chan, Juliana C. N., 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, Ines, 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, Magi, 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, Burtt, Noel P., Mohlke, Karen L., Meitinger, Thomas, Groop, Leif, Abecasis, Goncalo, Florez, Jose C., Scott, Laura J., Morris, Andrew P., Kang, Hyun Min, Boehnke, Michael, Altshuler, David, McCarthy, Mark I., Fuchsberger, Christian, Flannick, Jason, Teslovich, Tanya M., Mahajan, Anubha, Agarwala, Vineeta, Gaulton, Kyle J., Ma, Clement, Fontanillas, Pierre, 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, Mueller-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, Stancakova, 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, Denis, 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, Dorothee, Lim, Wei Yen, Liu, Jianjun, van der Schouw, Yvonne T., Loh, Marie, Musani, Solomon K., Puppala, Sobha, Scott, William R., Yengo, Loic, Tan, Sian-Tsung, Taylor, Herman A., Jr., Thameem, Farook, Wilson, Gregory, Sr., Wong, Tien Yin, Njolstad, Pal Rasmus, Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Schwarzmayr, Thomas, Fadista, Joao, 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, Tonu, Farmer, Andrew J., Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeriya, Hollensted, Mette, Jorgensen, Marit E., Jorgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Karajamaki, 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 Hrabe, 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., Syvanen, Ann-Christine, Bergman, Richard N., Bharadwaj, Dwaipayan, Bottinger, Erwin P., Cho, Yoon Shin, Chandak, Giriraj R., Chan, Juliana C. N., 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, Ines, 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, Magi, 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, Burtt, Noel P., Mohlke, Karen L., Meitinger, Thomas, Groop, Leif, Abecasis, Goncalo, Florez, Jose C., Scott, Laura J., Morris, Andrew P., Kang, Hyun Min, Boehnke, Michael, Altshuler, David, and McCarthy, Mark I.

Abstract

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 associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.

Published
2016
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