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152. IGNITE network: Response of patients to genomic medicine interventions

Author

Orlando, Lori A., primary, Voils, Corrine, additional, Horowitz, Carol R., additional, Myers, Rachel A., additional, Arwood, Meghan J., additional, Cicali, Emily J., additional, McDonough, Caitrin W., additional, Pollin, Toni I., additional, Guan, Yue, additional, Levy, Kenneth D., additional, Ramirez, Andrea, additional, Quittner, Alexandra, additional, and Madden, Ebony B., additional

Published
2019
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155. Monogenic Diabetes in the Progress for Diabetes Genetics in Youth (ProDiGY) Collaboration

Author

TODD, JENNIFER, primary, KLEINBERGER, JEFFREY W., additional, SRINIVASAN, SHYLAJA, additional, TOLLEFSEN, SHERIDA E., additional, LEVITSKY, LYNNE L., additional, KATZ, LORRAINE E.L., additional, TRYGGESTAD, JEANIE B., additional, BACHA, FIDA, additional, IMPERATORE, GIUSEPPINA, additional, LAWRENCE, JEAN M., additional, PIHOKER, CATHERINE, additional, DIVERS, JASMIN, additional, FLANNICK, JASON, additional, DABELEA, DANA, additional, FLOREZ, JOSE C., additional, and POLLIN, TONI I., additional

Published
2018
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157. F158. Toxoplasma Gondii-Oocyst Seropositivity and Depression in the Old Order Amish

Author

Wadhawan, Abhishek, primary, Daue, Melanie L., additional, Brenner, Lisa A., additional, Lowry, Christopher A., additional, Dagdag, Aline, additional, Stiller, John W., additional, Benros, Michael E., additional, Erlangsen, Annette, additional, Baca-Garcia, Enrique, additional, Hoisington, Andrew J., additional, Snitker, Soren, additional, Pollin, Toni I., additional, Constantine, Niel, additional, Fuchs, Dietmar, additional, Groer, Maureen W., additional, Hill, Dolores, additional, Mitchell, Braxton D., additional, and Postolache, Teodor T., additional

Published
2018
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158. 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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159. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Author

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

Published
2018
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160. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Author

Jun, Goo, primary, Manning, Alisa, additional, Almeida, Marcio, additional, Zawistowski, Matthew, additional, Wood, Andrew R., additional, Teslovich, Tanya M., additional, Fuchsberger, Christian, additional, Feng, Shuang, additional, Cingolani, Pablo, additional, Gaulton, Kyle J., additional, Dyer, Thomas, additional, Blackwell, Thomas W., additional, Chen, Han, additional, Chines, Peter S., additional, Choi, Sungkyoung, additional, Churchhouse, Claire, additional, Fontanillas, Pierre, additional, King, Ryan, additional, Lee, SungYoung, additional, Lincoln, Stephen E., additional, Trubetskoy, Vasily, additional, DePristo, Mark, additional, Fingerlin, Tasha, additional, Grossman, Robert, additional, Grundstad, Jason, additional, Heath, Alison, additional, Kim, Jayoun, additional, Kim, Young Jin, additional, Laramie, Jason, additional, Lee, Jaehoon, additional, Li, Heng, additional, Liu, Xuanyao, additional, Livne, Oren, additional, Locke, Adam E., additional, Maller, Julian, additional, Mazur, Alexander, additional, Morris, Andrew P., additional, Pollin, Toni I., additional, Ragona, Derek, additional, Reich, David, additional, Rivas, Manuel A., additional, Scott, Laura J., additional, Sim, Xueling, additional, Tearle, Rick G., additional, Teo, Yik Ying, additional, Williams, Amy L., additional, Zöllner, Sebastian, additional, Curran, Joanne E., additional, Peralta, Juan, additional, Akolkar, Beena, additional, Bell, Graeme I., additional, Burtt, Noël P., additional, Cox, Nancy J., additional, Florez, Jose C., additional, Hanis, Craig L., additional, McKeon, Catherine, additional, Mohlke, Karen L., additional, Seielstad, Mark, additional, Wilson, James G., additional, Atzmon, Gil, additional, Below, Jennifer E., additional, Dupuis, Josée, additional, Nicolae, Dan L., additional, Lehman, Donna, additional, Park, Taesung, additional, Won, Sungho, additional, Sladek, Robert, additional, Altshuler, David, additional, McCarthy, Mark I., additional, Duggirala, Ravindranath, additional, Boehnke, Michael, additional, Frayling, Timothy M., additional, Abecasis, Gonçalo R., additional, and Blangero, John, additional

Published
2017
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161. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Author

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

Published
2017
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163. Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network

Author

Sperber, Nina R., primary, Carpenter, Janet S., additional, Cavallari, Larisa H., additional, J. Damschroder, Laura, additional, Cooper-DeHoff, Rhonda M., additional, Denny, Joshua C., additional, Ginsburg, Geoffrey S., additional, Guan, Yue, additional, Horowitz, Carol R., additional, Levy, Kenneth D., additional, Levy, Mia A., additional, Madden, Ebony B., additional, Matheny, Michael E., additional, Pollin, Toni I., additional, Pratt, Victoria M., additional, Rosenman, Marc, additional, Voils, Corrine I., additional, W. Weitzel, Kristen, additional, Wilke, Russell A., additional, Ryanne Wu, R., additional, and Orlando, Lori A., additional

Published
2017
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164. 203. Environmental Risk Factors for Toxoplasma Gondii Seropositivity in the Old Order Amish

Author

Postolache, Teodor T., primary, Ryan, Kathleen A, additional, Peng, Xiaoqing, additional, Pavlovich, Mary, additional, Nijjar, Gursharon, additional, Postolache, Sonia Y, additional, Mohyuddin, Iqra, additional, Bazaco, Michael C., additional, Markon, André O., additional, Punzalan, Cecile M, additional, Shuldiner, Alan, additional, Pollin, Toni I, additional, and Mitchell, Braxton D, additional

Published
2017
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165. 914. Toxoplasma Gondii Serointensity and Seropositivity and Their Heritability and Household-Related Associations in the Old Order Amish

Author

Duffy, Allyson, primary, O׳Connell, Jeffrey, additional, Pavlovich, Mary, additional, Groer, Maureen, additional, Peng, Xiaoqing, additional, Ryan, Kathy, additional, Nijjar, Gursharon, additional, Huang, Xuemei, additional, Dagdag, Aline, additional, Postolache, Sonia, additional, Stiller, John W, additional, Lowry, Christopher A., additional, Shuldiner, Alan, additional, Pollin, Toni I, additional, Mitchell, Braxton, additional, and Postolache, Teodor T, additional

Published
2017
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166. 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., Syvanen, 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, Lars, 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., Syvanen, 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, Lars, 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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167. 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., 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, and McCarthy, Mark I.

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.

Published
2017

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

Author

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, and Zhang, Weihua

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

Published
2015
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169. Gender differences in first and secondhand smoke exposure, spirometric lung function and cardiometabolic health in the old order Amish: A novel population without female smoking

Author

Reed, Robert M., primary, Dransfield, Mark T., additional, Eberlein, Michael, additional, Miller, Michael, additional, Netzer, Giora, additional, Pavlovich, Mary, additional, Pollin, Toni I., additional, Scharf, Steven M., additional, Shuldiner, Alan R., additional, Sin, Don, additional, and Mitchell, Braxton D., additional

Published
2017
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170. 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, primary, Highland, Heather M., additional, Gasser, Jessica, additional, Sim, Xueling, additional, Tukiainen, Taru, additional, Fontanillas, Pierre, additional, Grarup, Niels, additional, Rivas, Manuel A., additional, Mahajan, Anubha, additional, Locke, Adam E., additional, Cingolani, Pablo, additional, Pers, Tune H., additional, Viñuela, Ana, additional, Brown, Andrew A., additional, Wu, Ying, additional, Flannick, Jason, additional, Fuchsberger, Christian, additional, Gamazon, Eric R., additional, Gaulton, Kyle J., additional, Im, Hae Kyung, additional, Teslovich, Tanya M., additional, Blackwell, Thomas W., additional, Bork-Jensen, Jette, additional, Burtt, Noël P., additional, Chen, Yuhui, additional, Green, Todd, additional, Hartl, Christopher, additional, Kang, Hyun Min, additional, Kumar, Ashish, additional, Ladenvall, Claes, additional, Ma, Clement, additional, Moutsianas, Loukas, additional, Pearson, Richard D., additional, Perry, John R.B., additional, Rayner, N. William, additional, Robertson, Neil R., additional, Scott, Laura J., additional, van de Bunt, Martijn, additional, Eriksson, Johan G., additional, Jula, Antti, additional, Koskinen, Seppo, additional, Lehtimäki, Terho, additional, Palotie, Aarno, additional, Raitakari, Olli T., additional, Jacobs, Suzanne B.R., additional, Wessel, Jennifer, additional, Chu, Audrey Y., additional, Scott, Robert A., additional, Goodarzi, Mark O., additional, Blancher, Christine, additional, Buck, Gemma, additional, Buck, David, additional, Chines, Peter S., additional, Gabriel, Stacey, additional, Gjesing, Anette P., additional, Groves, Christopher J., additional, Hollensted, Mette, additional, Huyghe, Jeroen R., additional, Jackson, Anne U., additional, Jun, Goo, additional, Justesen, Johanne Marie, additional, Mangino, Massimo, additional, Murphy, Jacquelyn, additional, Neville, Matt, additional, Onofrio, Robert, additional, Small, Kerrin S., additional, Stringham, Heather M., additional, Trakalo, Joseph, additional, Banks, Eric, additional, Carey, Jason, additional, Carneiro, Mauricio O., additional, DePristo, Mark, additional, Farjoun, Yossi, additional, Fennell, Timothy, additional, Goldstein, Jacqueline I., additional, Grant, George, additional, Hrabé de Angelis, Martin, additional, Maguire, Jared, additional, Neale, Benjamin M., additional, Poplin, Ryan, additional, Purcell, Shaun, additional, Schwarzmayr, Thomas, additional, Shakir, Khalid, additional, Smith, Joshua D., additional, Strom, Tim M., additional, Wieland, Thomas, additional, Lindstrom, Jaana, additional, Brandslund, Ivan, additional, Christensen, Cramer, additional, Surdulescu, Gabriela L., additional, Lakka, Timo A., additional, Doney, Alex S.F., additional, Nilsson, Peter, additional, Wareham, Nicholas J., additional, Langenberg, Claudia, additional, Varga, Tibor V., additional, Franks, Paul W., additional, Rolandsson, Olov, additional, Rosengren, Anders H., additional, Farook, Vidya S., additional, Thameem, Farook, additional, Puppala, Sobha, additional, Kumar, Satish, additional, Lehman, Donna M., additional, Jenkinson, Christopher P., additional, Curran, Joanne E., additional, Hale, Daniel Esten, additional, Fowler, Sharon P., additional, Arya, Rector, additional, DeFronzo, Ralph A., additional, Abboud, Hanna E., additional, Syvänen, Ann-Christine, additional, Hicks, Pamela J., additional, Palmer, Nicholette D., additional, Ng, Maggie C.Y., additional, Bowden, Donald W., additional, Freedman, Barry I., additional, Esko, Tõnu, additional, Mägi, Reedik, additional, Milani, Lili, additional, Mihailov, Evelin, additional, Metspalu, Andres, additional, Narisu, Narisu, additional, Kinnunen, Leena, additional, Bonnycastle, Lori L., additional, Swift, Amy, additional, Pasko, Dorota, additional, Wood, Andrew R., additional, Fadista, João, additional, Pollin, Toni I., additional, Barzilai, Nir, additional, Atzmon, Gil, additional, Glaser, Benjamin, additional, Thorand, Barbara, additional, Strauch, Konstantin, additional, Peters, Annette, additional, Roden, Michael, additional, Müller-Nurasyid, Martina, additional, Liang, Liming, additional, Kriebel, Jennifer, additional, Illig, Thomas, additional, Grallert, Harald, additional, Gieger, Christian, additional, Meisinger, Christa, additional, Lannfelt, Lars, additional, Musani, Solomon K., additional, Griswold, Michael, additional, Taylor, Herman A., additional, Wilson, Gregory, additional, Correa, Adolfo, additional, Oksa, Heikki, additional, Scott, William R., additional, Afzal, Uzma, additional, Tan, Sian-Tsung, additional, Loh, Marie, additional, Chambers, John C., additional, Sehmi, Jobanpreet, additional, Kooner, Jaspal Singh, additional, Lehne, Benjamin, additional, Cho, Yoon Shin, additional, Lee, Jong-Young, additional, Han, Bok-Ghee, additional, Käräjämäki, Annemari, additional, Qi, Qibin, additional, Qi, Lu, additional, Huang, Jinyan, additional, Hu, Frank B., additional, Melander, Olle, additional, Orho-Melander, Marju, additional, Below, Jennifer E., additional, Aguilar, David, additional, Wong, Tien Yin, additional, Liu, Jianjun, additional, Khor, Chiea-Chuen, additional, Chia, Kee Seng, additional, Lim, Wei Yen, additional, Cheng, Ching-Yu, additional, Chan, Edmund, additional, Tai, E Shyong, additional, Aung, Tin, additional, Linneberg, Allan, additional, Isomaa, Bo, additional, Meitinger, Thomas, additional, Tuomi, Tiinamaija, additional, Hakaste, Liisa, additional, Kravic, Jasmina, additional, Jørgensen, Marit E., additional, Lauritzen, Torsten, additional, Deloukas, Panos, additional, Stirrups, Kathleen E., additional, Owen, Katharine R., additional, Farmer, Andrew J., additional, Frayling, Timothy M., additional, O'Rahilly, Stephen P., additional, Walker, Mark, additional, Levy, Jonathan C., additional, Hodgkiss, Dylan, additional, Hattersley, Andrew T., additional, Kuulasmaa, Teemu, additional, Stančáková, Alena, additional, Barroso, Inês, additional, Bharadwaj, Dwaipayan, additional, Chan, Juliana, additional, Chandak, Giriraj R., additional, Daly, Mark J., additional, Donnelly, Peter J., additional, Ebrahim, Shah B., additional, Elliott, Paul, additional, Fingerlin, Tasha, additional, Froguel, Philippe, additional, Hu, Cheng, additional, Jia, Weiping, additional, Ma, Ronald C.W., additional, McVean, Gilean, additional, Park, Taesung, additional, Prabhakaran, Dorairaj, additional, Sandhu, Manjinder, additional, Scott, James, additional, Sladek, Rob, additional, Tandon, Nikhil, additional, Teo, Yik Ying, additional, Zeggini, Eleftheria, additional, Watanabe, Richard M., additional, Koistinen, Heikki A., additional, Kesaniemi, Y. Antero, additional, Uusitupa, Matti, additional, Spector, Timothy D., additional, Salomaa, Veikko, additional, Rauramaa, Rainer, additional, Palmer, Colin N.A., additional, Prokopenko, Inga, additional, Morris, Andrew D., additional, Bergman, Richard N., additional, Collins, Francis S., additional, Lind, Lars, additional, Ingelsson, Erik, additional, Tuomilehto, Jaakko, additional, Karpe, Fredrik, additional, Groop, Leif, additional, Jørgensen, Torben, additional, Hansen, Torben, additional, Pedersen, Oluf, additional, Kuusisto, Johanna, additional, Abecasis, Gonçalo, additional, Bell, Graeme I., additional, Blangero, John, additional, Cox, Nancy J., additional, Duggirala, Ravindranath, additional, Seielstad, Mark, additional, Wilson, James G., additional, Dupuis, Josee, additional, Ripatti, Samuli, additional, Hanis, Craig L., additional, Florez, Jose C., additional, Mohlke, Karen L., additional, Meigs, James B., additional, Laakso, Markku, additional, Morris, Andrew P., additional, Boehnke, Michael, additional, Altshuler, David, additional, McCarthy, Mark I., additional, Gloyn, Anna L., additional, and Lindgren, Cecilia M., additional

Published
2017
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171. Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program

Author

Varga, Tibor V., Winters, Alexandra H., Jablonski, Kathleen A., Horton, Edward S., Khare-Ranade, Prajakta, Knowler, William C., Marcovina, Santica M., Renström, Frida, Watson, Karol E., Goldberg, Ronald, Florez, José C., Pollin, Toni I., Franks, Paul W., Varga, Tibor V., Winters, Alexandra H., Jablonski, Kathleen A., Horton, Edward S., Khare-Ranade, Prajakta, Knowler, William C., Marcovina, Santica M., Renström, Frida, Watson, Karol E., Goldberg, Ronald, Florez, José C., Pollin, Toni I., and Franks, Paul W.

Published
2016

172. Lifestyle and Metformin Ameliorate Insulin Sensitivity Independently of the Genetic Burden of Established Insulin Resistance Variants in Diabetes Prevention Program Participants

Author

Hivert, Marie-France, Christophi, Costas A., Franks, Paul W., Jablonski, Kathleen A., Ehrmann, David A., Kahn, Steven E., Horton, Edward S., Pollin, Toni I., Mather, Kieren J., Perreault, Leigh, Barrett-Connor, Elizabeth, Knowler, William C., Florez, Jose C., Hivert, Marie-France, Christophi, Costas A., Franks, Paul W., Jablonski, Kathleen A., Ehrmann, David A., Kahn, Steven E., Horton, Edward S., Pollin, Toni I., Mather, Kieren J., Perreault, Leigh, Barrett-Connor, Elizabeth, Knowler, William C., and Florez, Jose C.

Abstract

Large genome-wide association studies of glycemic traits have identified genetics variants that are associated with insulin resistance (IR) in the general population. It is unknown whether people with genetic enrichment for these IR variants respond differently to interventions that aim to improve insulin sensitivity. We built a genetic risk score (GRS) based on 17 established IR variants and effect sizes (weighted IR-GRS) in 2,713 participants of the Diabetes Prevention Program (DPP) with genetic consent. We tested associations between the weighted IR-GRS and insulin sensitivity index (ISI) at baseline in all participants, and with change in ISI over 1 year of follow-up in the DPP intervention (metformin and lifestyle) and control (placebo) arms. All models were adjusted for age, sex, ethnicity, and waist circumference at baseline (plus baseline ISI for 1-year ISI change models). A higher IR-GRS was associated with lower baseline ISI (beta= -0.754 [SE = 0.229] log-ISI per unit, P = 0.001 in fully adjusted models). There was no differential effect of treatment for the association between the IR-GRS on the change in ISI; higher IR-GRS was associated with an attenuation in ISI improvement over 1 year (beta = -0.520 [SE = 0.233], P = 0.03 in fully adjusted models; all treatment arms). Lifestyle intervention and metformin treatment improved the ISI, regardless of the genetic burden of IR variants.

Published
2016
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173. The genetic architecture of type 2 diabetes

Author

JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Circulatory Health, Cardiovasculaire Epidemiologie, 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, 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, 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, Dorothée, Lim, Wei Yen, Liu, Jianjun, van der Schouw, Yvonne T, 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, Hrabé de Angelis, Martin, 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 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, 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, Noël 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, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Circulatory Health, Cardiovasculaire Epidemiologie, 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, 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, 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, Dorothée, Lim, Wei Yen, Liu, Jianjun, van der Schouw, Yvonne T, 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, Hrabé de Angelis, Martin, 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 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, 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, Noël 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

Published
2016

174. Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program

Author

Varga, Tibor V., primary, Winters, Alexandra H., additional, Jablonski, Kathleen A., additional, Horton, Edward S., additional, Khare-Ranade, Prajakta, additional, Knowler, William C., additional, Marcovina, Santica M., additional, Renström, Frida, additional, Watson, Karol E., additional, Goldberg, Ronald, additional, Florez, José C., additional, Pollin, Toni I., additional, and Franks, Paul W., additional

Published
2016
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177. Whole Genome Sequencing Identifies CRISPLD2as a Lung Function Gene in Children With Asthma

Author

Kachroo, Priyadarshini, Hecker, Julian, Chawes, Bo L., Ahluwalia, Tarunveer S., Cho, Michael H., Qiao, Dandi, Kelly, Rachel S., Chu, Su H., Virkud, Yamini V., Huang, Mengna, Barnes, Kathleen C., Burchard, Esteban G., Eng, Celeste, Hu, Donglei, Celedón, Juan C., Daya, Michelle, Levin, Albert M., Gui, Hongsheng, Williams, L. Keoki, Forno, Erick, Mak, Angel C.Y., Avila, Lydiana, Soto-Quiros, Manuel E., Cloutier, Michelle M., Acosta-Pérez, Edna, Canino, Glorisa, Bønnelykke, Klaus, Bisgaard, Hans, Raby, Benjamin A., Lange, Christoph, Weiss, Scott T., Lasky-Su, Jessica A., Abe, Namiko, Abecasis, Goncalo, Albert, Christine, Palmer Allred, Nicholette (Nichole), Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Arking, Dan, Arnett, Donna K., Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Beaty, Terri, Becker, Diane, Becker, Lewis, Beer, Rebecca, Begum, Ferdouse, Beitelshees, Amber, Benjamin, Emelia, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Boerwinkle, Eric, Borecki, Ingrid, Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Burchard, Esteban, Cardwell, Jonathan, Carty, Cara, Casaburi, Richard, Casella, James, Chaffin, Mark, Chang, Christy, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Chen, Yii-Der Ida, Cho, Michael H., Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, Das, Sayantan, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Do, Ron, Duan, Qing, Duggirala, Ravi, Durda, Peter, Dutcher, Susan, Eaton, Charles, Ekunwe, Lynette, Ellinor, Patrick, Emery, Leslie, Farber, Charles, Farnam, Leanna, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Yan, Gass, Margery, Gelb, Bruce, Geng, Xiaoqi (Priscilla), Germer, Soren, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Haessler, Jeff, Hall, Michael, Harris, Daniel, Hawley, Nicola, He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hokanson, John, Holly, Kramer, Hong, Elliott, Hoth, Karin, (Agnes) Hsiung, Chao, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Jhun, Min A., Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kachroo, Priyadarshini, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kathiresan, Sekar, Kaufman, Laura, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Krauter, Stephanie, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Seunggeun Shawn, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Yun, Lin, Honghuang, Lin, Keng Han, Liu, Simin, Liu, Yongmei, Loos, Ruth, Lubitz, Steven, Lunetta, Kathryn, Luo, James, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manson, JoAnn, Margolin, Lauren, Martin, Lisa, Mathai, Susan, Mathias, Rasika, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, Mei, Hao, Meyers, Deborah A., Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L., Mitchell, Braxton, Montasser, May E., Musani, Solomon, Mwasongwe, Stanford, Mychaleckyj, Josyf C., Nadkarni, Girish, Naik, Rakhi, Natarajan, Pradeep, Nekhai, Sergei, Nickerson, Deborah, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Pankow, James, Papanicolaou, George, Parker, Margaret, Parsa, Afshin, Penchev, Sara, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S., Phillips, Sam, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Prokopenko, Dmitry, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Ramachandran, Vasan, Rao, D.C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Regan, Elizabeth, Reiner, Alex, Rice, Ken, Rich, Stephen, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sakornsakolpat, Phuwanat, Salimi, Shabnam, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay, Scheller, Christopher, Schmidt, Ellen, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sheehan, Vivien, Shetty, Amol, Shetty, Aniket, Sheu, Wayne Hui-Heng, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne, Streeten, Elizabeth, Sung, Yun Ju, Su-Lasky, Jessica, Sylvia, Jody, Szpiro, Adam, Sztalryd, Carole, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wan, Emily, Wang, Fei Fei, Watson, Karol, Weeks, Daniel E., Weir, Bruce, Weiss, Scott, Weng, Lu-Chen, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Wong, Quenna, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yang, Rongze, Zaghloul, Norann, Zekavat, Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zheng, Xiuwen, Zhi, Degui, Zhou, Xiang, Zody, Michael, and Zoellner, Sebastian

Abstract

Asthma is a common respiratory disorder with a highly heterogeneous nature that remains poorly understood. The objective was to use whole genome sequencing (WGS) data to identify regions of common genetic variation contributing to lung function in individuals with a diagnosis of asthma.

Published
2019
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178. Variations in blood lipids: what is the new gold standard for genome-wide association studies? As exemplified by analyses of blood lipids, it is collaboration to amass huge sample sizes and functional studies of the genes identified

Author

Shuldiner, Alan R. and Pollin, Toni I.

Subjects
Identification and classification, Genetic aspects, Research, Methods, Genetic testing -- Methods -- Genetic aspects -- Research, Blood lipids -- Genetic aspects -- Research -- Methods, Genetic variation -- Identification and classification -- Genetic aspects -- Research -- Methods, Genomics -- Research -- Methods -- Genetic aspects, Genetic screening -- Methods -- Genetic aspects -- Research
Abstract

Cardiovascular disease is a leading cause of death. In the United States, for example, it accounted for 1 in every 2.8 deaths in 2005 (ref. 1). Disruptions in the amounts [...]

Published
2010

179. Undiagnosed MODY: Time for Action.

Author

Kleinberger, Jeffrey, Pollin, Toni, Kleinberger, Jeffrey W, and Pollin, Toni I

Subjects
TYPE 2 diabetes diagnosis, GENETIC mutation, TYPE 2 diabetes, RESEARCH funding, DISEASE prevalence, SEQUENCE analysis
Abstract

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for at least 1 % of all cases of diabetes mellitus. MODY classically presents as non-insulin-requiring diabetes in lean individuals typically younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95 % of MODY cases in the USA are misdiagnosed. MODY prevalence and characteristics have been well-studied in some populations, such as the UK and Norway, while other ethnicities, like African and Latino, need much more study. Emerging next-generation sequencing methods are making more widespread study and clinical diagnosis increasingly feasible; at the same time, they are detecting other mutations in the same genes of unknown clinical significance. This review will cover the current epidemiological studies of MODY and barriers and opportunities for moving toward a goal of access to an appropriate diagnosis for all affected individuals. [ABSTRACT FROM AUTHOR]

Published
2015
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180. In VitroFunctional Analysis Can Aid Precision Diagnostics of Hepatocyte Nuclear Factor 1B Maturity-Onset Diabetes of the Young

Author

Pavithram, Aishwarya, Zhang, Haichen, Maloney, Kristin A., Ringdal, Monika, Kaci, Alba, Sagen, Jørn V., Kleinberger, Jeffrey, Jeng, Linda J.B., Njølstad, Pål R., Pollin, Toni I., Molnes, Janne, and Johansson, Bente B.

Abstract

Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of hepatocyte nuclear factor (HNF) 1B maturity-onset diabetes of the young, caused by pathogenic variants in the HNF1Bgene, is important for optimal disease management and prognosis, and it has implications for genetic counseling and follow-up of at-risk family members. In the present study, the hypothesis is that the functional characterization could provide valuable information to assist the interpretation of pathogenicity of HNF1Bvariants. Using different in vitrofunctional assays, seven variants were identified among 313 individuals suspected to have monogenic diabetes with or without kidney disease. The data from the functional assays were subsequently conjugated with obtained clinical, biochemical, and in silicodata. Two variants (p.A167P, p.H336Pfs∗22) showed severe loss of function due to impaired transactivation, reduced DNA binding (p.A167P), and mRNA instability (p.A167P). Although both these variant carriers were diagnosed with diabetes, the p.H336Pfs∗22 carrier also had congenital absence of a kidney, which is a characteristic HNF1B maturity-onset diabetes of the young trait. Functional analysis of the p.A167P variant revealed damaging effects on HNF-1B protein function, which may warrant imaging of the kidneys and/or pancreas. In addition, the current study has generated important data, including evidence supporting the benign functional impact of five variants (p.D82N, p.T88A, p.N394D, p.V458G, and p.T544A), and piloting new approaches that will prove critical for the growth of HNF1B-diabetes diagnosis.

Published
2024
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181. A genetic-association study of circulating coagulation factor VIII and von Willebrand factor levels

Author

de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjmain A. T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming-Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Boerwinkle, Eric, Beswick, Andrew, Psaty, Bruce M., Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Deleuze, Jean-François, Rich, Stephen S., van Hylckama Vlieg, Astrid, Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Almasy, Laura, Brody, Lawrence C., Auer, Paul L., Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., Mitchell, Braxton D., Ben-Shlomo, Yoav, Fornage, Myriam, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Blangero, John, Kooperberg, Charles, Desch, Karl C., Johnson, Andrew D., Sabater-Lleal, Maria, Lowenstein, Charles J., Smith, Nicholas L., and Morrison, Alanna C.

Abstract

•We identified 7 new genetic regions for factor VIII levels, 1 for von Willebrand factor levels, and 3 in a combined analysis.•Silencing B3GNT2and CD36reduced factor VIII release in vitro.Silencing B3GNT2, CD36, and PDIA3reduced von Willebrand factor release.

Published
2024
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182. Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN)

Author

Wojczynski, Mary K., primary, Parnell, Laurence D., additional, Pollin, Toni I., additional, Lai, Chao Q., additional, Feitosa, Mary F., additional, O’Connell, Jeff R., additional, Frazier-Wood, Alexis C., additional, Gibson, Quince, additional, Aslibekyan, Stella, additional, Ryan, Kathy A., additional, Province, Michael A., additional, Tiwari, Hemant K., additional, Ordovas, Jose M., additional, Shuldiner, Alan R., additional, Arnett, Donna K., additional, and Borecki, Ingrid B., additional

Published
2015
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184. Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Author

Wen-Chi Hsueh, Nair, Anup K., Sayuko Kobes, Peng Chen, Göring, Harald H. H., Pollin, Toni I., Malhotra, Alka, Knowler, William C., Baier, Leslie J., and Hanson, Robert L.

Abstract

Background--Identity-by-descent mapping using empirical estimates of identity-by-descent allele sharing may be useful for studies of complex traits in founder populations, where hidden relationships may augment the inherent genetic information that can be used for localization. Methods and Results--Through identity-by-descent mapping, using ≈400 000 single-nucleotide polymorphisms (SNPs), of serum lipid profiles, we identified a major linkage signal for triglycerides in 1007 Pima Indians (LOD=9.23; P=3.5×10-11 on chromosome 11q). In subsequent fine-mapping and replication association studies in ≈7500 Amerindians, we determined that this signal reflects effects of a loss-of-function Ala43Thr substitution in APOC3 (rs147210663) and 3 established functional SNPs in APOA5. The association with rs147210663 was particularly strong; each copy of the Thr allele conferred 42% lower triglycerides (β=-0.92±0.059 SD unit; P=9.6×10-55 in 4668 Pimas and 2793 Southwest Amerindians combined). The Thr allele is extremely rare in most global populations but has a frequency of 2.5% in Pimas. We further demonstrated that 3 APOA5 SNPs with established functional impact could explain the association with the most well-replicated SNP (rs964184) for triglycerides identified by genome-wide association studies. Collectively, these 4 SNPs account for 6.9% of variation in triglycerides in Pimas (and 4.1% in Southwest Amerindians), and their inclusion in the original linkage model reduced the linkage signal to virtually null. Conclusions--APOC3/APOA5 constitutes a major locus for serum triglycerides in Amerindians, especially the Pimas, and these results provide an empirical example for the concept that population-based linkage analysis is a useful strategy to identify complex trait variants. [ABSTRACT FROM AUTHOR]

Published
2017
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185. Positive association between Toxoplasma gondii IgG serointensity and current dysphoria/hopelessness scores in the Old Order Amish: a preliminary study.

Author

Wadhawan, Abhishek, Dagdag, Aline, Duffy, Allyson, Daue, Melanie L., Ryan, Kathy A., Brenner, Lisa A., Stiller, John W., Pollin, Toni I., Groer, Maureen W., Xuemei Huang, Lowry, Christopher A., Mitchell, Braxton D., and Postolache, Teodor T.

Subjects
TOXOPLASMA gondii, MENTAL depression, ENZYME-linked immunosorbent assay, ANHEDONIA, COGNITIVE therapy
Abstract

Toxoplasma gondii (T. gondii) IgG seropositivity and serointensity have been previously associated with suicidal self-directed violence (SSDV). Although associations with unipolar depression have also been investigated, the results have been inconsistent, possibly as a consequence of high heterogeneity. We have now studied this association in a more homogeneous population, [that is (i.e.) Old Order Amish (OOA)] with previously reported high T. gondii seroprevalence. In 306 OOA with a mean age of 46.1 ± 16.7 years, including 191 (62.4%) women in the Amish Wellness Study, we obtained both T. gondii IgG titers (by enzyme-linked immunosorbent assay [ELISA]), and depression screening questionnaires (Patient Health Questionnaire [PHQ-9] [n = 280] and PHQ-2 [n = 26]). Associations between T. gondii IgG and dysphoria/hopelessness and anhedonia scores on depression screening questionnaires were analyzed using multivariable linear methods with adjustment for age and sex. Serointensity was associated with both current dysphoria/hopelessness (p = 0.045) and current combined anhedonia and dysphoria/hopelessness (p = 0.043), while associations with simple anhedonia and past/lifelong (rather than current) phenotypes were not significant. These results indicate the need for larger longitudinal studies to corroborate the association between dysphoria/hopelessness and T. gondii IgG-titers. Current hopelessness is a known risk factor for SSDV which responds particularly well to cognitive behavioral therapy, and may be a focused treatment target for T. gondii-positive individuals at high-risk for SSDV. [ABSTRACT FROM AUTHOR]

Published
2017
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187. Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study

Author

Crawford, Dana C., primary, Dumitrescu, Logan, additional, Goodloe, Robert, additional, Brown-Gentry, Kristin, additional, Boston, Jonathan, additional, McClellan, Bob, additional, Sutcliffe, Cara, additional, Wiseman, Rachel, additional, Baker, Paxton, additional, Pericak-Vance, Margaret A., additional, Scott, William K., additional, Allen, Melissa, additional, Mayo, Ping, additional, Schnetz-Boutaud, Nathalie, additional, Dilks, Holli H., additional, Haines, Jonathan L., additional, and Pollin, Toni I., additional

Published
2014
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188. List of Contributors

Author

Ackland, Tim, Alvarado, Leiddy Z., Anderson, Cheryl A.M., Apovian, Caroline M., Ariefdjohan, Merlin W., Baer, Marion Taylor, Barnes, Jennifer L., Batch, Bryan C., Bhriain, Sinead N., Blomme, Courtney K., Bray, George A., Brown-Esters, Onikia N., Burke, Lora E., Boushey, Carol J., Cadmus-Bertram, Lisa, Calvo, Mona S., Campbell, Sara C., Chin, Lyanne H., Costello, Rebecca B., Crane, Melissa M., Cross, Amanda J., Cureton, Pamela, de Rus Jacquet, Aurélie, Delahanty, Linda M., DeLany, James P., Demark-Wahnefried, Wendy, Dilk, Abby, Drapeau, V., Duarte-Gardea, Maria, Dwyer, Johanna T., Fasano, Alessio, Ferruzzi, Mario G., Fisler, Janis S., Freudenheim, Jo L., Gallaher, Daniel D., Glanz, Karen, Goodrich, Katheryn M., Gower, Emily, Guevara-Cruz, Martha, Harrison, Earl, Heianza, Yoriko, Herrington, Holly, Hertzler, Steve, Hill Gallant, Kathleen M., Hume, Patricia A., Jackson, Karry A., Jia, Wei, Johnson, Rachel K., Kerr, Deborah A., Kim, Kee-Hong, Kolonel, Laurence N., Kris-Etherton, Penny, Kushner, Robert F., Lai, HuiChuan J., Lampe, Johanna W., Lawler, Thomas P., Lee, Ki Won, Leonard, Maureen M., Lin, Pao-Hwa, Mancino, Juliet, Marcus, Robert, Mares, Julie A., Merkel, Joyce, Millen, Amy E., Millen, Barbara, Nagana Gowda, G.A., Neilson, Andrew P., Niculescu, Mihai D., Ogata, Beth, Ordovas, Jose M., Palmer, Kenya D., Park, Song-Yi, Patterson, Ruth E., Pollin, Toni I., Pomerleau, S., Porter, Kathleen J., Provencher, V., Qi, Lu, Raftery, Daniel, Rajani, Cynthia, Richter, Chesney, Robien, Kim, Rochet, Jean-Christophe, Rock, Cheryl L., Savaiano, Dennis A., Schap, TusaRebecca E., Seburg, Elisabeth M., Seifried, Harold E., Seifried, Rebecca M., Sherwood, Nancy E., Skulas-Ray, Ann, Snetselaar, Linda G., Suarez, Fabrizis L., Subar, Amy F., Svetkey, Laura P., Tambe, Mitali A., Tappenden, Kelly A., Thomas, Alyce M., Thompson, Frances E., Trudo, Sabrina P., Tyson, Crystal C., Vatanparast, Hassan, Villaseñor, Adriana, Warden, Craig H., Weaver, Connie M., Whiting, Susan J., Wills, Hope, Wisniewski, Paul J., Wylie-Rosett, Judith, Zhang, Zhumin, Zheng, Yaguang, and Zoellner, Jamie M.

Published
2017
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191. An APOOPseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels

Author

Montasser, May E., O’Hare, Elizabeth A., Wang, Xiaochun, Howard, Alicia D., McFarland, Rebecca, Perry, James A., Ryan, Kathleen A., Rice, Kenneth, Jaquish, Cashell E., Shuldiner, Alan R., Miller, Michael, Mitchell, Braxton D., Zaghloul, Norann A., Chang, Yen-Pei C., Abe, Namiko, Abecasis, Goncalo, Albert, Christine, Allred, Nicholette P., Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Debora, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Barnard, John, Barnes, Kathleen, Graham Barr, R., Barron-Casella, Emily, Beaty, Terri, Becker, Diane, Becker, Lewis, Beer, Rebecca, Begum, Ferdouse, Beitelshees, Amber, Benjamin, Emelia, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Boerwinkle, Eric, Borecki, Ingrid, Bowler, Russel, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Burchard, Esteban, Cardwell, Jonathan, Carlson, Sara, Carty, Cara, Casaburi, Richard, Casella, James, Chaffin, Mark, Chang, Christy, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, Das, Sayantan, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Do, Ron, Duan, Qing, Duggirala, Ravi, Durda, Peter, Dutcher, Susan, Eaton, Charles, Ekunwe, Lynette, Ellinor, Patrick, Emery, Leslie, Farber, Charles, Farnam, Leanna, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Fu, Mao, Fullerton, Malia, Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Yan, Gass, Margery, Gelb, Bruce, Geng, Xiaoqi (Priscilla), Germer, Soren, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Charles Gu, C., Guan, Yue, Guo, Xiuqing, Haessler, Jeff, Hall, Michael, Harris, Daniel, Hawley, Nicola, He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Huston, Haley, Hwu, Chii Min, Irvin, Marguerite, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Jhun, Min A, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kathiresan, Sekar, Kaufman, Laura, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Krauter, Stephanie, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Seunggeun, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Yun, Lin, Honghuang, Lin, Keng Han, Liu, Simin, Liu, Yongmei, Loos, Ruth, Lunetta, Kathryn, Luo, James, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manson, JoAnn, Margolin, Lauren, Martin, Lisa, Mathai, Susan, Mathias, Rasika, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, Mei, Hao, Meyers, Deborah, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton, Musani, Solomon, Mwasongwe, Stanford, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi Johns, Natarajan, Pradeep, Nekhai, Sergei, Nickerson, Deborah, North, Kari, O’Connell, Jeff, O’Connor, Tim, Heather, Ochs-Balcom, Pankow, James, Papanicolaou, George, Parker, Margaret, Parsa, Afshin, Pattison, Jessica Tangarone, Penchev, Sara, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Larry, Phillips, Sam, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Prokopenko, Dmitry, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Ramachandran, Vasan, Rao, D.C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Regan, Elizabeth, Reiner, Alex, Rice, Ken, Rich, Stephen, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sakornsakolpat, Phuwanat, Salimi, Shabnam, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay, Scheller, Christopher, Schmidt, Ellen, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Sheehan, Vivien, Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Benjamin Shoemaker, M., Silver, Brian, Silverman, Edwin, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne, Streeten, Elizabeth, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Sztalryd, Carole, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wan, Emily, Fei Wang, Fei, Watson, Karol, Weeks, Daniel E., Weir, Bruce, Weiss, Scott, Weng, Lu-Chen, Willer, Cristen, Williams, Kayleen, Keoki Williams, L., Wilson, Carla, Wilson, James, Wong, Quenna, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yang, Rongze, Zaghloul, Norann, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zheng, Xiuwen, Zhi, Degui, Zhou, Xiang, Zody, Michael, and Zoellner, Sebastian

Abstract

Supplemental Digital Content is available in the text.

Published
2018
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192. Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group

Author

Orlando, Lori A, Sperber, Nina R, Voils, Corrine, Nichols, Marshall, Myers, Rachel A, Wu, R Ryanne, Rakhra-Burris, Tejinder, Levy, Kenneth D, Levy, Mia, Pollin, Toni I, Guan, Yue, Horowitz, Carol R, Ramos, Michelle, Kimmel, Stephen E, McDonough, Caitrin W, Madden, Ebony B, and Damschroder, Laura J

Abstract

PurposeImplementation research provides a structure for evaluating the clinical integration of genomic medicine interventions. This paper describes the Implementing Genomics in Practice (IGNITE) Network’s efforts to promote (i) a broader understanding of genomic medicine implementation research and (ii) the sharing of knowledge generated in the network.MethodsTo facilitate this goal, the IGNITE Network Common Measures Working Group (CMG) members adopted the Consolidated Framework for Implementation Research (CFIR) to guide its approach to identifying constructs and measures relevant to evaluating genomic medicine as a whole, standardizing data collection across projects, and combining data in a centralized resource for cross-network analyses.ResultsCMG identified 10 high-priority CFIR constructs as important for genomic medicine. Of those, eight did not have standardized measurement instruments. Therefore, we developed four survey tools to address this gap. In addition, we identified seven high-priority constructs related to patients, families, and communities that did not map to CFIR constructs. Both sets of constructs were combined to create a draft genomic medicine implementation model.ConclusionWe developed processes to identify constructs deemed valuable for genomic medicine implementation and codified them in a model. These resources are freely available to facilitate knowledge generation and sharing across the field.

Published
2018
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193. Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial

Author

Kleinberger, Jeffrey W, Copeland, Kenneth C, Gandica, Rachelle G, Haymond, Morey W, Levitsky, Lynne L, Linder, Barbara, Shuldiner, Alan R, Tollefsen, Sherida, White, Neil H, and Pollin, Toni I

Abstract

PurposeMonogenic diabetes accounts for 1–2% of diabetes cases. It is often undiagnosed, which may lead to inappropriate treatment. This study was performed to estimate the prevalence of monogenic diabetes in a cohort of overweight/obese adolescents diagnosed with type 2 diabetes (T2D).MethodsSequencing using a custom monogenic diabetes gene panel was performed on a racially/ethnically diverse cohort of 488 overweight/obese adolescents with T2D in the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) clinical trial. Associations between having a monogenic diabetes variant and clinical characteristics and time to treatment failure were analyzed.ResultsMore than 4% (22/488) had genetic variants causing monogenic diabetes (seven GCK, seven HNF4A, five HNF1A, two INS, and one KLF11). Patients with monogenic diabetes had a statistically, but not clinically, significant lower body mass index (BMI) z-score, lower fasting insulin, and higher fasting glucose. Most (6/7) patients with HNF4A variants rapidly failed TODAY treatment across study arms (hazard ratio = 5.03, P = 0.0002), while none with GCK variants failed treatment.ConclusionThe finding of 4.5% of patients with monogenic diabetes in an overweight/obese cohort of children and adolescents with T2D suggests that monogenic diabetes diagnosis should be considered in children and adolescents without diabetes-associated autoantibodies and maintained C-peptide, regardless of BMI, as it may direct appropriate clinical management.

Published
2018
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194. A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Author

Tachmazidou, Ioanna Dedoussis, George Southam, Lorraine and Farmaki, Aliki-Eleni Ritchie, Graham R. S. Xifara, Dionysia K. and Matchan, Angela Hatzikotoulas, Konstantinos Rayner, Nigel W. and Chen, Yuan Pollin, Toni I. O'Connell, Jeffrey R. and Yerges-Armstrong, Laura M. Kiagiadaki, Chrysoula Panoutsopoulou, Kalliope Schwartzentruber, Jeremy Moutsianas, Loukas and Tsafantakis, Emmanouil Tyler-Smith, Chris McVean, Gil Xue, Yali Zeggini, Eleftheria UK10K Consortium and Tachmazidou, Ioanna Dedoussis, George Southam, Lorraine and Farmaki, Aliki-Eleni Ritchie, Graham R. S. Xifara, Dionysia K. and Matchan, Angela Hatzikotoulas, Konstantinos Rayner, Nigel W. and Chen, Yuan Pollin, Toni I. O'Connell, Jeffrey R. and Yerges-Armstrong, Laura M. Kiagiadaki, Chrysoula Panoutsopoulou, Kalliope Schwartzentruber, Jeremy Moutsianas, Loukas and Tsafantakis, Emmanouil Tyler-Smith, Chris McVean, Gil Xue, Yali Zeggini, Eleftheria UK10K Consortium

Abstract

Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Greek population isolate on the Illumina HumanExome Beadchip, in search of functional coding variants associated with lipids traits. We find genome-wide significant evidence for association between R19X, a functional variant in APOC3, with increased high-density lipoprotein and decreased triglycerides levels. Approximately 3.8% of individuals are heterozygous for this cardioprotective variant, which was previously thought to be private to the Amish founder population. R19X is rare (<0.05% frequency) in outbred European populations. The increased frequency of R19X enables discovery of this lipid traits signal at genome-wide significance in a small sample size. This work exemplifies the value of isolated populations in successfully detecting transferable rare variant associations of high medical relevance.

Published
2013

195. Genetic Modulation of Lipid Profiles following Lifestyle Modification or Metformin Treatment: The Diabetes Prevention Program

Author

Pollin, Toni I., Isakova, Tamara, Jablonski, Kathleen A., de Bakker, Paul I. W., Taylor, Andrew, McAteer, Jarred, Pan, Qing, Horton, Edward S., Delahanty, Linda M., Altshuler, David, Shuldiner, Alan R., Goldberg, Ronald B., Florez, Jose C., Franks, Paul, Pollin, Toni I., Isakova, Tamara, Jablonski, Kathleen A., de Bakker, Paul I. W., Taylor, Andrew, McAteer, Jarred, Pan, Qing, Horton, Edward S., Delahanty, Linda M., Altshuler, David, Shuldiner, Alan R., Goldberg, Ronald B., Florez, Jose C., and Franks, Paul

Abstract

Weight-loss interventions generally improve lipid profiles and reduce cardiovascular disease risk, but effects are variable and may depend on genetic factors. We performed a genetic association analysis of data from 2,993 participants in the Diabetes Prevention Program to test the hypotheses that a genetic risk score (GRS) based on deleterious alleles at 32 lipid-associated single-nucleotide polymorphisms modifies the effects of lifestyle and/or metformin interventions on lipid levels and nuclear magnetic resonance (NMR) lipoprotein subfraction size and number. Twenty-three loci previously associated with fasting LDL-C, HDL-C, or triglycerides replicated (P = 0.04-1x10(-17)). Except for total HDL particles (r = -0.03, P = 0.26), all components of the lipid profile correlated with the GRS (partial |r| = 0.07-0.17, P=5x10(-5)-1x10(-19)). The GRS was associated with higher baseline-adjusted 1-year LDL cholesterol levels (beta = +0.87, SEE +/- 0.22 mg/dl/allele, P=8x10(-5), P-interaction = 0.02) in the lifestyle intervention group, but not in the placebo (beta = +0.20, SEE +/- 0.22 mg/dl/allele, P = 0.35) or metformin (beta = -0.03, SEE +/- 0.22 mg/dl/allele, P = 0.90; P-interaction = 0.64) groups. Similarly, a higher GRS predicted a greater number of baseline-adjusted small LDL particles at 1 year in the lifestyle intervention arm (beta = +0.30, SEE +/- 0.012 ln nmol/L/allele, P = 0.01, P-interaction = 0.01) but not in the placebo (beta = 20.002, SEE +/- 0.008 ln nmol/L/allele, P = 0.74) or metformin (beta = +0.013, SEE +/- 0.008 nmol/L/allele, P = 0.12; P-interaction = 0.24) groups. Our findings suggest that a high genetic burden confers an adverse lipid profile and predicts attenuated response in LDL-C levels and small LDL particle number to dietary and physical activity interventions aimed at weight loss.

Published
2012

196. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program

Author

Jablonski, Kathleen A, McAteer, Jarred B, de Bakker, Paul I W, Franks, Paul W, Pollin, Toni I, Hanson, Robert L, Saxena, Richa, Fowler, Sarah, Shuldiner, Alan R, Knowler, William C, Altshuler, David, Florez, Jose C, Jablonski, Kathleen A, McAteer, Jarred B, de Bakker, Paul I W, Franks, Paul W, Pollin, Toni I, Hanson, Robert L, Saxena, Richa, Fowler, Sarah, Shuldiner, Alan R, Knowler, William C, Altshuler, David, and Florez, Jose C

Abstract

We have identified potential genetic determinants of metformin response. These results merit confirmation in independent samples.

Published
2010
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197. Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response

Author

An, Ping, primary, Straka, Robert J., additional, Pollin, Toni I., additional, Feitosa, Mary F., additional, Wojczynski, Mary K., additional, Daw, E. Warwick, additional, O’Connell, Jeffrey R., additional, Gibson, Quince, additional, Ryan, Kathleen A., additional, Hopkins, Paul N., additional, Tsai, Michael Y., additional, Lai, Chao-Qiang, additional, Province, Michael A., additional, Ordovas, Jose M., additional, Shuldiner, Alan R., additional, Arnett, Donna K., additional, and Borecki, Ingrid B., additional

Published
2014
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198. Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program

Author

Moore, Allan F, Jablonski, Kathleen A, McAteer, Jarred B, Saxena, Richa, Pollin, Toni I, Franks, Paul W, Hanson, Robert L, Shuldiner, Alan R, Knowler, William C, Altshuler, David, Florez, Jose C, Moore, Allan F, Jablonski, Kathleen A, McAteer, Jarred B, Saxena, Richa, Pollin, Toni I, Franks, Paul W, Hanson, Robert L, Shuldiner, Alan R, Knowler, William C, Altshuler, David, and Florez, Jose C

Abstract

OBJECTIVE: Genome-wide association scans (GWASs) have identified novel diabetes-associated genes. We evaluated how these variants impact diabetes incidence, quantitative glycemic traits, and response to preventive interventions in 3,548 subjects at high risk of type 2 diabetes enrolled in the Diabetes Prevention Program (DPP), which examined the effects of lifestyle intervention, metformin, and troglitazone versus placebo. RESEARCH DESIGN AND METHODS: We genotyped selected single nucleotide polymorphisms (SNPs) in or near diabetes-associated loci, including EXT2, CDKAL1, CDKN2A/B, IGF2BP2, HHEX, LOC387761, and SLC30A8 in DPP participants and performed Cox regression analyses using genotype, intervention, and their interactions as predictors of diabetes incidence. We evaluated their effect on insulin resistance and secretion at 1 year. RESULTS: None of the selected SNPs were associated with increased diabetes incidence in this population. After adjustments for ethnicity, baseline insulin secretion was lower in subjects with the risk genotype at HHEX rs1111875 (P = 0.01); there were no significant differences in baseline insulin sensitivity. Both at baseline and at 1 year, subjects with the risk genotype at LOC387761 had paradoxically increased insulin secretion; adjustment for self-reported ethnicity abolished these differences. In ethnicity-adjusted analyses, we noted a nominal differential improvement in beta-cell function for carriers of the protective genotype at CDKN2A/B after 1 year of troglitazone treatment (P = 0.01) and possibly lifestyle modification (P = 0.05). CONCLUSIONS: We were unable to replicate the GWAS findings regarding diabetes risk in the DPP. We did observe genotype associations with differences in baseline insulin secretion at the HHEX locus and a possible pharmacogenetic interaction at CDKNA2/B.

Published
2008
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