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52. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.

Published
2018
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53. Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Author

Zanoni, Paolo, Khetarpal, Sumeet A., Larach, Daniel B., Hancock-Cerutti, William F., Millar, John S., Cuchel, Marina, DerOhannessian, Stephanie, Kontush, Anatol, Surendran, Praveen, Saleheen, Danish, Trompet, Stella, Jukema, J. Wouter, De Craen, Anton, Deloukas, Panos, Sattar, Naveed, Ford, Ian, Packard, Chris, Majumder, Abdullah al Shafi, Alam, Dewan S., Di Angelantonio, Emanuele, Abecasis, Goncalo, Chowdhury, Rajiv, Erdmann, Jeanette, Nordestgaard, Børge G., Nielsen, Sune F., Tybjærg-Hansen, Anne, Schmidt, Ruth Frikke, Kuulasmaa, Kari, Liu, Dajiang J., Perola, Markus, Blankenberg, Stefan, Salomaa, Veikko, Männistö, Satu, Amouyel, Philippe, Arveiler, Dominique, Ferrieres, Jean, Müller-Nurasyid, Martina, Ferrario, Marco, Kee, Frank, Willer, Cristen J., Samani, Nilesh, Schunkert, Heribert, Butterworth, Adam S., Howson, Joanna M. M., Peloso, Gina M., Stitziel, Nathan O., Danesh, John, Kathiresan, Sekar, and Rader, Daniel J.

Published
2016

55. IMTCN: An Interpretable Flight Safety Analysis and Prediction Model Based on Multi-Scale Temporal Convolutional Networks

Author

Li, Xu, Shang, Jiaxing, Zheng, Linjiang, Wang, Qixing, Liu, Dajiang, Liu, Xiaodong, Li, Fan, Cao, Weiwei, and Sun, Hong

Abstract

Flight safety is a key issue in the aviation industry. Recently, with the prevalence of flight data recording systems, some deep learning-based studies have been devoted to predicting safety incidents based on flight data. However, these studies, although they exhibit higher prediction accuracy, have largely neglected the interpretability analysis of safety incidents which is of great concern to airlines and pilots. To address this issue, we define flight safety prediction as a multiscale time series classification problem and propose an interpretable model named IMTCN to provide both accurate predictions and high interpretability of flight safety. First, multiple temporal convolutional networks (TCNs) are utilized to capture local representations and long effective histories from multivariate flight data. Because different flight parameters are collected with diverse sampling frequencies, multiple TCNs are used to handle these parameters separately. Then, we creatively adapt the class activation mapping (CAM) method, which has been used for interpretation in image classification, and combine it with the TCN to provide flight data interpretability. The established model can pinpoint key flight parameters and corresponding moments that contribute most to safety incidents. Experimental results on a real-world dataset with 37,943 Airbus A320 aircraft flights show that our model outperforms the baselines on the task of exceedance classification and prediction 2 seconds and 4 seconds in advance, and case studies demonstrate its superb interpretability for flight safety analysis.

Published
2024
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56. Author response: Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population

Author

Ang, Khai C, primary, Canfield, Victor A, additional, Foster, Tiffany C, additional, Harbaugh, Thaddeus D, additional, Early, Kathryn A, additional, Harter, Rachel L, additional, Reid, Katherine P, additional, Leong, Shou Ling, additional, Kawasawa, Yuka, additional, Liu, Dajiang, additional, Hawley, John W, additional, and Cheng, Keith C, additional

Published
2023
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60. S-22-3: UNCOVERING NEW GENES, TISSUES AND THERAPEUTIC TARGETS FOR BLOOD PRESSURE THROUGH LARGE-SCALE TRANSCRIPTOME-WIDE ASSOCIATION STUDIES

Author

Xu, Xiaoguang, primary, Khunsriraksakul, Chachrit, additional, Eales, James M, additional, Markus, Havell, additional, Wang, Lida, additional, Saluja, Sushant, additional, Lay, Abigail, additional, Guzik, Tomasz J, additional, Morris, Andrew P, additional, Liu, Dajiang J, additional, Charchar, Fadi J, additional, and Tomaszewski, Maciej, additional

Published
2023
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63. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Loohuis, Loes M. Olde, Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Edwards, Digna R. Velez, Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.

Published
2019
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66. Hydrophilic But Not Hydrophobic Surfactant Protein Genetic Variants Are Associated With Severe Acute Respiratory Syncytial Virus Infection in Children

Author

Depicolzuane, Lynnlee C., primary, Roberts, Catherine M., additional, Thomas, Neal J., additional, Anderson-Fears, Keenan, additional, Liu, Dajiang, additional, Barbosa, João Paulo Pereira, additional, Souza, Felipe Rodrigues, additional, Pimentel, André Silva, additional, Floros, Joanna, additional, and Gandhi, Chintan K., additional

Published
2022
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71. Rare coding variants in 35 genes associate with circulating lipid levels - A multi-ancestry analysis of 170,000 exomes

Author

Hindy, George, Dornbos, Peter, Chaffin, Mark D., Liu, Dajiang J., Wang, Minxian, Selvaraj, Margaret Sunitha, Zhang, David, Park, Joseph, Aguilar-Salinas, Carlos A., Antonacci-Fulton, Lucinda, Ardissino, Diego, Arnett, Donna K., Aslibekyan, Stella, Atzmon, Gil, Ballantyne, Christie M., Barajas-Olmos, Francisco, Barzilai, Nir, Becker, Lewis C., Bielak, Lawrence F., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin, Bowden, Donald W., Bown, Matthew J., Brody, Jennifer A., Broome, Jai G., Burtt, Noël P., Cade, Brian E., Centeno-Cruz, Federico, Chan, Edmund, Chang, Yi Cheng, Chen, Yii Der I., Cheng, Ching Yu, Choi, Won Jung, Chowdhury, Rajiv, Contreras-Cubas, Cecilia, Córdova, Emilio J., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., Danesh, John, de Vries, Paul S., Grarup, Niels, Hansen, Torben, Linneberg, Allan, Loos, Ruth J.F., Pedersen, Oluf, Witte, Daniel R., Hindy, George, Dornbos, Peter, Chaffin, Mark D., Liu, Dajiang J., Wang, Minxian, Selvaraj, Margaret Sunitha, Zhang, David, Park, Joseph, Aguilar-Salinas, Carlos A., Antonacci-Fulton, Lucinda, Ardissino, Diego, Arnett, Donna K., Aslibekyan, Stella, Atzmon, Gil, Ballantyne, Christie M., Barajas-Olmos, Francisco, Barzilai, Nir, Becker, Lewis C., Bielak, Lawrence F., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin, Bowden, Donald W., Bown, Matthew J., Brody, Jennifer A., Broome, Jai G., Burtt, Noël P., Cade, Brian E., Centeno-Cruz, Federico, Chan, Edmund, Chang, Yi Cheng, Chen, Yii Der I., Cheng, Ching Yu, Choi, Won Jung, Chowdhury, Rajiv, Contreras-Cubas, Cecilia, Córdova, Emilio J., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., Danesh, John, de Vries, Paul S., Grarup, Niels, Hansen, Torben, Linneberg, Allan, Loos, Ruth J.F., Pedersen, Oluf, and Witte, Daniel R.

Abstract

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using sequence data from >170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African, 16,440 Hispanic/Latino, 10,420 East Asian, and 1,182 Samoan. We identified 35 genes associated with circulating lipid levels; some of these genes have not been previously associated with lipid levels when using rare coding variation from population-based samples. We prioritize 32 genes in array-based genome-wide association study (GWAS) loci based on aggregations of rare coding variants; three (EVI5, SH2B3, and PLIN1) had no prior association of rare coding variants with lipid levels. Most of our associated genes showed evidence of association among multiple ancestries. Finally, we observed an enrichment of gene-based associations for low-density lipoprotein cholesterol drug target genes and for genes closest to GWAS index single-nucleotide polymorphisms (SNPs). Our results demonstrate that gene-based associations can be beneficial for drug target development and provide evidence that the gene closest to the array-based GWAS index SNP is often the functional gene for blood lipid levels.

Published
2022

72. Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

Author

Khera, Amit V., Won, Hong-Hee, Peloso, Gina M., O’Dushlaine, Colm, Liu, Dajiang, Stitziel, Nathan O., Natarajan, Pradeep, Nomura, Akihiro, Emdin, Connor A., Gupta, Namrata, Borecki, Ingrid B., Asselta, Rosanna, Duga, Stefano, Merlini, Piera Angelica, Correa, Adolfo, Kessler, Thorsten, Wilson, James G., Bown, Matthew J., Hall, Alistair S., Braund, Peter S., Carey, David J., Murray, Michael F., Kirchner, H. Lester, Leader, Joseph B., Lavage, Daniel R., Manus, J. Neil, Hartzel, Dustin N., Samani, Nilesh J., Schunkert, Heribert, Marrugat, Jaume, Elosua, Roberto, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Lander, Eric S., Rader, Daniel J., Danesh, John, Ardissino, Diego, Gabriel, Stacey, Willer, Cristen, Abecasis, Gonçalo R., Saleheen, Danish, Dewey, Frederick E., and Kathiresan, Sekar

Published
2017
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73. Rare and low-frequency coding variants alter human adult height

Author

Marouli, Eirini, Graff, Mariaelisa, Medina-Gomez, Carolina, Lo, Ken Sin, Wood, Andrew R., Kjaer, Troels R., Fine, Rebecca S., Lu, Yingchang, Schurmann, Claudia, Highland, Heather M., Rüeger, Sina, Thorleifsson, Gudmar, Justice, Anne E., Lamparter, David, Stirrups, Kathleen E., Turcot, Valérie, Young, Kristin L., Winkler, Thomas W., Esko, Tõnu, Karaderi, Tugce, Locke, Adam E., Masca, Nicholas G. D., Ng, Maggie C. Y., Mudgal, Poorva, Rivas, Manuel A., Vedantam, Sailaja, Mahajan, Anubha, Guo, Xiuqing, Abecasis, Goncalo, Aben, Katja K., Adair, Linda S., Alam, Dewan S., Albrecht, Eva, Allin, Kristine H., Allison, Matthew, Amouyel, Philippe, Appel, Emil V., Arveiler, Dominique, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Banas, Bernhard, Bang, Lia E., Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bonnycastle, Lori L., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Burt, Amber A., Butterworth, Adam S., Carey, David J., Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Cuellar-Partida, Gabriel, Danesh, John, Davies, Gail, de Bakker, Paul I. W., de Borst, Gert J., de Denus, Simon, de Groot, Mark C. H., de Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., den Hollander, Anneke I., Dennis, Joe G., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dunning, Alison M., Easton, Douglas F., Ebeling, Tapani, Edwards, Todd L., Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Faul, Jessica D., Feitosa, Mary F., Feng, Shuang, Ferrannini, Ele, Ferrario, Marco M., Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franks, Paul W., Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Giri, Ayush, Girotto, Giorgia, Gordon, Scott D., Gordon-Larsen, Penny, Gorski, Mathias, Grarup, Niels, Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Hayward, Caroline, He, Liang, Heid, Iris M., Heikkilä, Kauko, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L., Hovingh, Kees G., Howson, Joanna M. M., Hoyng, Carel B., Huang, Paul L., Hveem, Kristian, Ikram, Arfan M., Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jhun, Min A., Jia, Yucheng, Jiang, Xuejuan, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jousilahti, Pekka, Jukema, Wouter J., Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Keeman, Renske, Kiemeney, Lambertus A., Kitajima, Hidetoshi, Kluivers, Kirsten B., Kocher, Thomas, Komulainen, Pirjo, Kontto, Jukka, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kriebel, Jennifer, Kuivaniemi, Helena, Küry, Sébastien, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lakka, Timo A., Lange, Ethan M., Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Larson, Eric B., Lee, I-Te, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Yeheng, Liu, Yongmei, Lophatananon, Artitaya, Luan, Jianʼan, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Mackey, David A., Madden, Pamela A. F., Manning, Alisa K., Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Martin, Nicholas G., Mazul, Angela L., Meidtner, Karina, Metspalu, Andres, Mitchell, Paul, Mohlke, Karen L., Mook-Kanamori, Dennis O., Morgan, Anna, Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Ntalla, Ioanna, OʼConnel, Jeffrey R., Oksa, Heikki, Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Person, Thomas N., Pirie, Ailith, Polasek, Ozren, Posthuma, Danielle, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Ridker, Paul M., Rioux, John D., Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sandow, Kevin, Sapkota, Yadav, Sattar, Naveed, Schmidt, Marjanka K., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati, Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert Vernon, Smith, Jennifer A., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Steinthorsdottir, Valgerdur, Stringham, Heather M., Stumvoll, Michael, Surendran, Praveen, Hart, Leen M.ʼt, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Ulivi, Sheila, van der Laan, Sander W., Van Der Leij, Andries R., van Duijn, Cornelia M., van Schoor, Natasja M., van Setten, Jessica, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Vozzi, Diego, Walker, Mark, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Wareham, Nicholas J., Warren, Helen R., Wessel, Jennifer, Willems, Sara M., Wilson, James G., Witte, Daniel R., Woods, Michael O., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zheng, He, Zhou, Wei, Rotter, Jerome I, Boehnke, Michael, Kathiresan, Sekar, McCarthy, Mark I., Willer, Cristen J., Stefansson, Kari, Borecki, Ingrid B., Liu, Dajiang J., North, Kari E., Heard-Costa, Nancy L., Pers, Tune H., Lindgren, Cecilia M., Oxvig, Claus, Kutalik, Zoltán, Rivadeneira, Fernando, Loos, Ruth J. F., Frayling, Timothy M., Hirschhorn, Joel N., Deloukas, Panos, and Lettre, Guillaume

Published
2017
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77. Additional file 2 of Analysis of KIR gene variants in The Cancer Genome Atlas and UK Biobank using KIRCLE

Author

Gao, Galen F., Liu, Dajiang, Zhan, Xiaowei, and Li, Bo

Abstract

Additional file 2: Supplementary Figure S1. Validation of KIRCLE’s Consistency. Contour plots demonstrating the effect of varying p and t on consistency of genotype calling, as quantified by entropy, for (a) KIR2DL2; (b) KIR2DL3, KIR2DL5B, KIR2DS2, & KIR3DS1; (c) KIR2DL5A; (d) KIR2DS1; (e) KIR2DS3; (f) KIR2DS4; (g) KIR2DS5; (h) KIR3DL1; (i) KIR3DL2; (j) and KIR3DL3. Supplementary Figure S2. Validation of KIRCLE’s Accuracy. (a) Confusion matrix depicting KIRCLE’s consistency in KIR genotype inference between 531 samples and their biological replicates in TCGA. (b) Scatterplot demonstrating that the concordance of KIR genotypes between TCGA replicates in each KIR gene positively correlates with sequence “dissimilarity” (as measured by average MSA distance) between alleles of that KIR gene. (c) Example MSA phylograms for KIR2DS2 (left) and KIR2DL5A (right) demonstrate different degrees of sequence similarity between different alleles of the same KIR gene. (d) Average entropy versus average depth of coverage in TCGA for each KIR gene. (e) Comparison of allele frequency ranks among the 9 KIR3DL2 alleles observed in the US NMDP with their frequency ranks in TCGA (left) and UK Biobank (right). Supplementary Figure S3. KIR Correlations with Molecular Markers. (a) Heatmap of the log2-odds-ratios of KIR allele correlations with HLA alleles in UK Biobank. Correlations with Fisher’s Exact FDR > 0.25 were masked. (b) Volcano plot of KIR allele correlations with HLA alleles in TCGA. (c) Heatmap of log2-median-fold-changes in tumor immune infiltrate composition estimates stratified by KIR alleles in TCGA. Mann-Whitney-U FDR > 0.25 correlations were masked. (d) Volcano plot of KIR allele correlations with differences in tumor immune infiltrate composition in TCGA. (e) Heatmap of log2-median-fold-changes in other immune-related molecular signatures and markers stratified by KIR alleles in TCGA. Mann-Whitney-U FDR > 0.25 correlations were masked. (f) Volcano plot of KIR allele correlations with differences in other immune-related molecular signatures and markers as measured and characterized in TCGA. Supplementary Figure S4. KIR Correlations with Other Clinical Variables in UK Biobank. (a) Increased likelihood of loose teeth was observed among individuals possessing at least one copy of the KIR3DL3*002 allele compared to those without it. (b) Quantitative blood analysis of individuals homozygous for KIR3DL2*010 revealed Increased reticulocyte percentage compared to those without the allele. (c) Decreased waist circumference was observed in individuals possessing at least one copy of KIR2DL3*010. (d) Lower age of cancer diagnosis was observed among KIR2DS3*002 heterozygotes. (e) Lower age of Chronic Obstructive Pulmonary Disease (COPD) diagnosis was observed among KIR3DL2*008 heterozygotes. (f) Increased duration of sleep was observed in individuals possessing at least one copy of KIR2DL4*032. All error bars in bar plots depict standard error of mean.

Published
2022
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80. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., Loos, Ruth J. F., CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators, and Understanding Society Scientific Group

Published
2018
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85. Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes

Author

Hindy, George, primary, Dornbos, Peter, additional, Chaffin, Mark D., additional, Liu, Dajiang J., additional, Wang, Minxian, additional, Selvaraj, Margaret Sunitha, additional, Zhang, David, additional, Park, Joseph, additional, Aguilar-Salinas, Carlos A., additional, Antonacci-Fulton, Lucinda, additional, Ardissino, Diego, additional, Arnett, Donna K., additional, Aslibekyan, Stella, additional, Atzmon, Gil, additional, Ballantyne, Christie M., additional, Barajas-Olmos, Francisco, additional, Barzilai, Nir, additional, Becker, Lewis C., additional, Bielak, Lawrence F., additional, Bis, Joshua C., additional, Blangero, John, additional, Boerwinkle, Eric, additional, Bonnycastle, Lori L., additional, Bottinger, Erwin, additional, Bowden, Donald W., additional, Bown, Matthew J., additional, Brody, Jennifer A., additional, Broome, Jai G., additional, Burtt, Noël P., additional, Cade, Brian E., additional, Centeno-Cruz, Federico, additional, Chan, Edmund, additional, Chang, Yi-Cheng, additional, Chen, Yii-Der I., additional, Cheng, Ching-Yu, additional, Choi, Won Jung, additional, Chowdhury, Rajiv, additional, Contreras-Cubas, Cecilia, additional, Córdova, Emilio J., additional, Correa, Adolfo, additional, Cupples, L. Adrienne, additional, Curran, Joanne E., additional, Danesh, John, additional, de Vries, Paul S., additional, DeFronzo, Ralph A., additional, Doddapaneni, Harsha, additional, Duggirala, Ravindranath, additional, Dutcher, Susan K., additional, Ellinor, Patrick T., additional, Emery, Leslie S., additional, Florez, Jose C., additional, Fornage, Myriam, additional, Freedman, Barry I., additional, Fuster, Valentin, additional, Garay-Sevilla, Ma. Eugenia, additional, García-Ortiz, Humberto, additional, Germer, Soren, additional, Gibbs, Richard A., additional, Gieger, Christian, additional, Glaser, Benjamin, additional, Gonzalez, Clicerio, additional, Gonzalez-Villalpando, Maria Elena, additional, Graff, Mariaelisa, additional, Graham, Sarah E., additional, Grarup, Niels, additional, Groop, Leif C., additional, Guo, Xiuqing, additional, Gupta, Namrata, additional, Han, Sohee, additional, Hanis, Craig L., additional, Hansen, Torben, additional, He, Jiang, additional, Heard-Costa, Nancy L., additional, Hung, Yi-Jen, additional, Hwang, Mi Yeong, additional, Irvin, Marguerite R., additional, Islas-Andrade, Sergio, additional, Jarvik, Gail P., additional, Kang, Hyun Min, additional, Kardia, Sharon L.R., additional, Kelly, Tanika, additional, Kenny, Eimear E., additional, Khan, Alyna T., additional, Kim, Bong-Jo, additional, Kim, Ryan W., additional, Kim, Young Jin, additional, Koistinen, Heikki A., additional, Kooperberg, Charles, additional, Kuusisto, Johanna, additional, Kwak, Soo Heon, additional, Laakso, Markku, additional, Lange, Leslie A., additional, Lee, Jiwon, additional, Lee, Juyoung, additional, Lee, Seonwook, additional, Lehman, Donna M., additional, Lemaitre, Rozenn N., additional, Linneberg, Allan, additional, Liu, Jianjun, additional, Loos, Ruth J.F., additional, Lubitz, Steven A., additional, Lyssenko, Valeriya, additional, Ma, Ronald C.W., additional, Martin, Lisa Warsinger, additional, Martínez-Hernández, Angélica, additional, Mathias, Rasika A., additional, McGarvey, Stephen T., additional, McPherson, Ruth, additional, Meigs, James B., additional, Meitinger, Thomas, additional, Melander, Olle, additional, Mendoza-Caamal, Elvia, additional, Metcalf, Ginger A., additional, Mi, Xuenan, additional, Mohlke, Karen L., additional, Montasser, May E., additional, Moon, Jee-Young, additional, Moreno-Macías, Hortensia, additional, Morrison, Alanna C., additional, Muzny, Donna M., additional, Nelson, Sarah C., additional, Nilsson, Peter M., additional, O’Connell, Jeffrey R., additional, Orho-Melander, Marju, additional, Orozco, Lorena, additional, Palmer, Colin N.A., additional, Palmer, Nicholette D., additional, Park, Cheol Joo, additional, Park, Kyong Soo, additional, Pedersen, Oluf, additional, Peralta, Juan M., additional, Peyser, Patricia A., additional, Post, Wendy S., additional, Preuss, Michael, additional, Psaty, Bruce M., additional, Qi, Qibin, additional, Rao, D.C., additional, Redline, Susan, additional, Reiner, Alexander P., additional, Revilla-Monsalve, Cristina, additional, Rich, Stephen S., additional, Samani, Nilesh, additional, Schunkert, Heribert, additional, Schurmann, Claudia, additional, Seo, Daekwan, additional, Seo, Jeong-Sun, additional, Sim, Xueling, additional, Sladek, Rob, additional, Small, Kerrin S., additional, So, Wing Yee, additional, Stilp, Adrienne M., additional, Tai, E. Shyong, additional, Tam, Claudia H.T., additional, Taylor, Kent D., additional, Teo, Yik Ying, additional, Thameem, Farook, additional, Tomlinson, Brian, additional, Tsai, Michael Y., additional, Tuomi, Tiinamaija, additional, Tuomilehto, Jaakko, additional, Tusié-Luna, Teresa, additional, Udler, Miriam S., additional, van Dam, Rob M., additional, Vasan, Ramachandran S., additional, Viaud Martinez, Karine A., additional, Wang, Fei Fei, additional, Wang, Xuzhi, additional, Watkins, Hugh, additional, Weeks, Daniel E., additional, Wilson, James G., additional, Witte, Daniel R., additional, Wong, Tien-Yin, additional, Yanek, Lisa R., additional, Kathiresan, Sekar, additional, Rader, Daniel J., additional, Rotter, Jerome I., additional, Boehnke, Michael, additional, McCarthy, Mark I., additional, Willer, Cristen J., additional, Natarajan, Pradeep, additional, Flannick, Jason A., additional, Khera, Amit V., additional, and Peloso, Gina M., additional

Published
2022
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87. HEART DISEASE: Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Author

Zanoni, Paolo, Khetarpal, Sumeet A., Larach, Daniel B., Hancock-Cerutti, William F., Millar, John S., Cuchel, Marina, DerOhannessian, Stephanie, Kontush, Anatol, Surendran, Praveen, Saleheen, Danish, Trompet, Stella, Jukema, Wouter J., De Craen, Anton, Deloukas, Panos, Sattar, Naveed, Ford, Ian, Packard, Chris, al Shafi Majumder, Abdullah, Alam, Dewan S., Di Angelantonio, Emanuele, Abecasis, Goncalo, Chowdhury, Rajiv, Erdmann, Jeanette, Nordestgaard, Børge G., Nielsen, Sune F., Tybjærg-Hansen, Anne, Schmidt, Ruth Frikke, Kuulasmaa, Kari, Liu, Dajiang J., Perola, Markus, Blankenberg, Stefan, Salomaa, Veikko, Männistö, Satu, Amouyel, Philippe, Arveiler, Dominique, Ferrieres, Jean, Müller-Nurasyid, Martina, Ferrario, Marco, Kee, Frank, Willer, Cristen J., Samani, Nilesh, Schunkert, Heribert, Butterworth, Adam S., Howson, Joanna M.M., Peloso, Gina M., Stitziel, Nathan O., Danesh, John, Kathiresan, Sekar, and Rader, Daniel J.

Published
2016
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90. Medical Service Use and Charges for Cancer Care in 2018 for Privately Insured Patients Younger Than 65 Years in the US

Author

Zaorsky, Nicholas G., primary, Khunsriraksakul, Chachrit, additional, Acri, Samantha L., additional, Liu, Dajiang J., additional, Ba, Djibril M., additional, Lin, John L., additional, Liu, Guodong, additional, Segel, Joel E., additional, Drabick, Joseph J., additional, Mackley, Heath B., additional, and Leslie, Douglas L., additional

Published
2021
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94. Model-based assessment of replicability for genome-wide association meta-analysis

Author

McGuire, Daniel, Jiang, Yu, Liu, Mengzhen, Weissenkampen, J. Dylan, Eckert, Scott, Yang, Lina, Chen, Fang, Liu, MengZhen, Wedow, Robbee, Li, Yue, Brazel, David M., Datta, Gargi, Davila-Velderrain, Jose, Tian, Chao, Zhan, Xiaowei, Choquet, H. éléne, Docherty, Anna R., Faul, Jessica D., Foerster, Johanna R., Fritsche, Lars, Gabrielsen, Maiken Elvestad, Gordon, Scott D., Haessler, Jeffrey, Hottenga, Jouke-Jan, Huang, Hongyan, Jang, Seon-Kyeong, Jansen, Philip R., Ling, Yueh, Ma ̈gi, Reedik, Matoba, Nana, McMahon, George, Mulas, Antonella, Orru, Valeria, Palviainen, Teemu, Pandit, Anita, Reginsson, Gunnar W., Skogholt, Anne Heidi, Smith, Jennifer A., Taylor, Amy E., Turman, Constance, Willemsen, Gonneke, Young, Hannah, Young, Kendra A., Zajac, Gregory J. M., Zhao, Wei, Zhou, Wei, Bjornsdottir, Gyda, Boardman, Jason D., Boehnke, Michael, Boomsma, Dorret I., Chen, Chu, Cucca, Francesco, Davies, Gareth E., Eaton, Charles B., Ehringer, Marissa A., Esko, Tõnu, Fiorillo, Edoardo, Gillespie, Nathan A., Gudbjartsson, Daniel F., Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C., Hewitt, John K., Hickie, Ian B., Hokanson, John E., Hopfer, Christian J., Hunter, David J., Iacono, William G., Johnson, Eric O., Kamatani, Yoichiro, Kardia, Sharon L. R., Keller, Matthew C., Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S., Laakso, Markku, Lind, Penelope A., Loukola, Anu, Lutz, Sharon M., Madden, Pamela A. F., Martin, Nicholas G., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Mohlke, Karen L., Nielsen, Jonas B., Okada, Yukinori, Peters, Ulrike, Polderman, Tinca J. C., Posthuma, Danielle, Reiner, Alexander P., Rice, JP, Rimm, Eric, Rose, Richard J., Runarsdottir, Valgerdur, Stallings, Michael C., Stanˇca ́kova, Alena, Stefansson, Hreinn, Thai, Khanh K., Tindle, Hilary A., Tyrfingsson, Thorarinn, Wall, Tamara L., Weir, David R., Weisner, Constance M, Whitfield, John B., Winsvold, Bendik K S, Yin, Jie, Zuccolo, Luisa, Bierut, Laura J., Hveem, Kristian, Lee, James J., Munafo, Marcus R., Saccone, Nancy L., Willer, Cristen J, Cornelis, Marilyn C., David, Sean P., Hinds, David, Jorgenson, Eric, Kaprio, Jaakko, Stitzel, Jerry A., Stefansson, Kari, Thorgeirsson, Thorgeir E., Abecasis, Goncalo, Liu, Dajiang J., Vrieze, Scott, Berg, Arthur, Jiang, Bibo, Li, Qunhua, Technology Centre, Institute for Molecular Medicine Finland, Genetic Epidemiology, HUSLAB, Centre of Excellence in Complex Disease Genetics, Jaakko Kaprio / Principal Investigator, Department of Public Health, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, APH - Aging & Later Life, APH - Mental Health, Child and Adolescent Psychiatry / Psychology, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Complex Trait Genetics, APH - Methodology, and Clinical Developmental Psychology

Subjects
0301 basic medicine, Genotype, Computer science, Science, General Physics and Astronomy, Genome-wide association study, Genomics, Computational biology, Genome-wide association studies, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Consistency (database systems), 0302 clinical medicine, Meta-Analysis as Topic, Replication (statistics), Genetic Association Studies, Multidisciplinary, biology, Models, Genetic, Statistics, Mamba, Computational Biology, Reproducibility of Results, General Chemistry, Replicate, biology.organism_classification, 030104 developmental biology, Phenotype, Sample size determination, Sample Size, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, 030217 neurology & neurosurgery, Imputation (genetics), Software, Algorithms, Genome-Wide Association Study
Abstract

Genome-wide association meta-analysis (GWAMA) is an effective approach to enlarge sample sizes and empower the discovery of novel associations between genotype and phenotype. Independent replication has been used as a gold-standard for validating genetic associations. However, as current GWAMA often seeks to aggregate all available datasets, it becomes impossible to find a large enough independent dataset to replicate new discoveries. Here we introduce a method, MAMBA (Meta-Analysis Model-based Assessment of replicability), for assessing the “posterior-probability-of-replicability” for identified associations by leveraging the strength and consistency of association signals between contributing studies. We demonstrate using simulations that MAMBA is more powerful and robust than existing methods, and produces more accurate genetic effects estimates. We apply MAMBA to a large-scale meta-analysis of addiction phenotypes with 1.2 million individuals. In addition to accurately identifying replicable common variant associations, MAMBA also pinpoints novel replicable rare variant associations from imputation-based GWAMA and hence greatly expands the set of analyzable variants., In genome-wide association meta-analysis, it is often difficult to find an independent dataset of sufficient size to replicate associations. Here, the authors have developed MAMBA to calculate the probability of replicability based on consistency between datasets within the meta-analysis.

Published
2021
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97. Genetic architecture of smoking: Evaluating rare variant contribution from deep whole-genome sequencing of up to 26,000 individuals

Author

Jang, Seon-Kyeong, primary, Evans, Luke, additional, Fialkowski, Allison, additional, Arnett, Donna, additional, Becker, Diane, additional, Bis, Joshua, additional, Blangero, John, additional, Bleecker, Eugene, additional, Brody, Jennifer, additional, Cupples, L. Adrienne, additional, Damrauer, Scott, additional, David, Sean, additional, de Andrade, Mariza, additional, Fingerlin, Tasha, additional, Gharib, Sina, additional, Glahn, David, additional, Haessler, Jeffrey, additional, Heckbert, Susan, additional, Hokanson, John, additional, Hwang, Shih-Jen, additional, Hyman, Matthew, additional, Judy, Renae, additional, Justice, Anne, additional, Kaplan, Robert, additional, Kim, Wonji, additional, Kooperberg, Charles, additional, Levy, Dan, additional, Loos, Ruth, additional, Manichaikul, Ani, additional, Gladwin, Mark, additional, Martin, Lisa, additional, Nouraie, Mehdi, additional, Melander, Olle, additional, Meyers, Deborah, additional, North, Kari, additional, Oelsner, Elizabeth, additional, Peljto, Anna, additional, Preuss, Michael, additional, Psaty, Bruce, additional, Qiao, Dandi, additional, Rader, Daniel, additional, Reed, Robert, additional, Reiner, Alexander, additional, Rich, Stephen, additional, Rotter, Jerome, additional, Schwartz, David, additional, Shadyab, Aladdin, additional, Silverman, Edwin, additional, Smith, Nicholas, additional, Smith, Gustav, additional, Smith, Albert, additional, Tang, Weihong, additional, Taylor, Kent, additional, Vasan, Ramachandran, additional, Gordeuk, Victor, additional, Wang, Zhe, additional, Wiggins, Kerri, additional, Yanek, Lisa, additional, Yang, Ivana, additional, Young, Kendra, additional, Young, Kristin, additional, Zhang, Yingze, additional, Liu, Dajiang, additional, Keller, Matthew, additional, and Vrieze, Scott, additional

Published
2021
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98. Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

Author

Erzurumluoglu, A. Mesut, Liu, Mengzhen, Jackson, Victoria E., Barnes, Daniel R., Datta, Gargi, Melbourne, Carl A., Young, Robin, Batini, Chiara, Surendran, Praveen, Jiang, Tao, Adnan, Sheikh Daud, Afaq, Saima, Agrawal, Arpana, Altmaier, Elisabeth, Antoniou, Antonis C., Asselbergs, Folkert W., Baumbach, Clemens, Bierut, Laura, Bertelsen, Sarah, Boehnke, Michael, Bots, Michiel L., Brazel, David M., Chambers, John C., Chang-Claude, Jenny, Chen, Chu, Corley, Janie, Chou, Yi-Ling, David, Sean P., de Boer, Rudolf A., de Leeuw, Christiaan A., Dennis, Joe G., Dominiczak, Anna F., Dunning, Alison M., Easton, Douglas F., Eaton, Charles, Elliott, Paul, Evangelou, Evangelos, Faul, Jessica D., Foroud, Tatiana, Goate, Alison, Gong, Jian, Grabe, Hans J., Haessler, Jeff, Haiman, Christopher, Hallmans, G. ran, Hammerschlag, Anke R., Harris, Sarah E., Hattersley, Andrew, Heath, Andrew, Posthuma, Danielle, van der Harst, Pim, Abecasis, Goncalo R., Danesh, John, Tobin, Martin D., Vrieze, Scott, Liu, Dajiang J., Howson, Joanna M. M., Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, and Amsterdam Reproduction & Development (AR&D)

Abstract

Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10 −8 in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P < 5 × 10 −8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P < 4.5 × 10 −3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141 and two low-frequency SNVs in CEP350 and HDGFRP2. Functional follow-up implied that decreased expression of REV3L may lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.

Published
2020
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99. SPOCD1 accelerates ovarian cancer progression and inhibits cell apoptosis via the PI3K/AKT pathway

Author

Liu,Dajiang, Yang,Yuan, Yan,Aiqin, and Yang,Yongxiu

Subjects
OncoTargets and Therapy
Abstract

Dajiang Liu, 1,* Yuan Yang, 2,* Aiqin Yan, 3,* Yongxiu Yang 1 1Department of Obstetrics and Gynecology, The First Hospital of Lan Zhou University, Lanzhou, China;2The Reproductive Medicine Special Hospital, The First Hospital of Lanzhou University, Lanzhou, China; 3Department of Obstetrics and Gynecology, Zhang ye People’s Hospital Affiliated to Hexi University, Zhangye, China*These authors contributed equally to this workCorrespondence: Yongxiu YangDepartment of Obstetrics and Gynecology, The First Hospital of Lan Zhou University, No.1 Donggang West Road, Chengguan District, Lanzhou, Gansu Province, People’s Republic of ChinaTel +86 1 380 931 8605Email yongxiuyang@163.comBackground: Ovarian cancer (OC) is the most common type of gynecological malignant tumors with poor prognosis. The spen paralogue and orthologue C-terminal domain containing 1 (SPOCD1) is a newly identified molecule that has been indicated to discriminate progressive in human solid tumors. However, the role of SPOCD1 in OC remains unknown.Methods: The expression of SPOCD1 in OC and non-cancerous tissue was detected by Realtime polymerase chain reaction and immunohistochemical staining. The expression of SPOCD1 in OC cells (SKOV3 and CAOV3) was also detected by immunohistochemical staining. The effect of SPOCD1 on cell proliferation was analyzed by Cell Counting Kit 8 and colony formation assay, and cell migration was analyzed by transwell assay. Apoptosis was analyzed by flow cytometry. The protein expression of SPOCD1, PTEN, PI3K, p-AKT, and mTOR in OC cells was measured by Western blot.Results: SPOCD1 expression was significantly upregulated in OC tissues compared with non-cancerous tissues (P< 0.01), and was positively correlated to FIGO stage and tumor grade of OC. Also, SPOCD1 was significantly expressed in nucleus and cytoplasm of SKOV3 and CAOV3 cells. Kaplan–Meier analysis indicated that patients with high SPOCD1 expression had shorter overall survival (HR =1.512, 95%CI: 1.321– 2.793, P=0.031) and progression-free survival (HR =1.875, 95%CI: 1.435– 3.157, P=0.028). SPOCD1 was upregulated in OC SKOV3 and CAOV3 cells. Further investigation revealed that downregulation of SPOCD1 inhibited the SKOV3 and CAOV3 cells proliferation and migration. In addition, the deficit of SPOCD1 increased the apoptosis in SKOV3 and CAOV3 cells. PI3K/AKT pathway was inhibited by knockdown of SPOCD1 in SKOV3 and CAOV3 cells.Conclusions: Our data suggest that SPOCD1 may act as a carcinogenesis factor by activating the PI3K/AKT pathway to restrained cell apoptosis in OC.Keywords: ovarian cancer, SPOCD1, proliferation, AKT &nbsp

Published
2020

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