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201. Author Correction : The power of genetic diversity in genome-wide association studies of lipids

Author: Graham, Sarah E., Clarke, Shoa L., Wu, Kuan-Han H., Kanoni, Stavroula, Zajac, Greg J. M., Ramdas, Shweta, Surakka, Ida, Ntalla, Ioanna, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Hwang, Mi Yeong, Han, Sohee, Narita, Akira, Choudhury, Ananyo, Bentley, Amy R., Ekoru, Kenneth, Verma, Anurag, Trivedi, Bhavi, Martin, Hilary C., Hunt, Karen A., Hui, Qin, Klarin, Derek, Zhu, Xiang, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Ruotsalainen, Sanni E., Havulinna, Aki S., Veturi, Yogasudha, Feng, QiPing, Rosenthal, Elisabeth A., Lingren, Todd, Pacheco, Jennifer Allen, Pendergrass, Sarah A., Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Hindy, George, Rasheed, Asif, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Willemsen, Gonneke, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Yao, Jie, Manichaikul, Ani, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Sidore, Carlo, Fiorillo, Edoardo, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Thuesen, Betina H., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Lamina, Claudia, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Feitosa, Mary F., Wojczynski, Mary K., Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Kember, Rachel L., Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Le, Phuong, Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Leonard, Hampton L., Marten, Jonathan, Schmidt, Börge, Arendt, Marina, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Ahmed, Meraj, Jackson, Anne U., Yousri, Noha A., Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R. H. J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Chai, Xiaoran, Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Hung, Yi-Jen, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Gorski, Mathias, Brumat, Marco, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Xue, Chao, Zhang, Jifeng, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., Lee, Jiwon, van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Zimmermann, Martina E., Lee, Jong Young, Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hildalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, Li, Xiaoyin, Schwander, Karen, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Highland, Heather M., Young, Kristin L., Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Nadkarni, Girish N., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, Bhatti, Konain Fatima, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H. H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W. J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Chen, Yii-Der Ida, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Chen, Y. Eugene, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Kardia, Sharon L. R., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Jung, Bettina, Böger, Carsten A., Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Hunt, Steven C., Walker, Mark, Koistinen, Heikki A., Chandak, Giriraj R., Yajnik, Chittaranjan S., Mercader, Josep M., Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N. A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Lu, Fan, Qu, Jia, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Parra, Esteban J., Cruz, Miguel, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, ’t Hart, Leen M., Elders, Petra J. M., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J. F., Province, Michael A., Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F. A., Kiemeney, Lambertus A. L. M., de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Cucca, Francesco, Mook-Kanamori, Dennis O., van Dijk, Ko Willems, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K. E., Boomsma, Dorret I., de Geus, Eco J. C., Cupples, L. Adrienne, van Meurs, Joyce B. J., Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Justice, Anne E., Baras, Aris, Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Thorsteinsdottir, Unnur, Stefansson, Kari, Ho, Yuk-Lam, Lynch, Julie A., Rader, Daniel J., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O’Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Rotimi, Charles N., Hazelhurst, Scott, Ramsay, Michèle, Trembath, Richard C., van Heel, David A., Tamiya, Gen, Yamamoto, Masayuki, Kim, Bong-Jo, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Natarajan, Pradeep, Peloso, Gina M., Brown, Christopher D., Morris, Andrew P., Assimes, Themistocles L., Deloukas, Panos, Sun, Yan V., and Willer, Cristen J.
Subjects: Medizin
Abstract: Correction to: Nature Published online 9 December 2021 In the version of this article initially published, Noha A. Yousri (Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar and Department of Computer and Systems Engineering, Alexandria University, Egypt) and Steven C. Hunt (Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA and Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar) were not included in the author list. In addition, Hieab H. H. Adams (Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands and Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands) was shown with an incorrect second affiliation in the HTML and PDF versions of the article. Finally, in the HTML version, Cristen J. Willer was mistakenly listed with an extra affiliation (Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia). The authors and affiliations have been corrected in the HTML and PDF versions of the article.
Published: 2023

202. sj-docx-1-bas-10.1177_00076503231158600 – Supplemental material for Public Health and Political Corporate Social Responsibility: Pharmaceutical Company Engagement in COVAX

Author: Scholz, Markus, Smith, N. Craig, Riegler, Maria, and Burton, Anna
Subjects: FOS: Economics and business, 150310 Organisation and Management Theory
Abstract: Supplemental material, sj-docx-1-bas-10.1177_00076503231158600 for Public Health and Political Corporate Social Responsibility: Pharmaceutical Company Engagement in COVAX by Markus Scholz, N. Craig Smith, Maria Riegler and Anna Burton in Business & Society
Published: 2023
Full Text: View/download PDF

203. Additional file 9 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Author: Kanoni, Stavroula, Graham, Sarah E., Wang, Yuxuan, Surakka, Ida, Ramdas, Shweta, Zhu, Xiang, Clarke, Shoa L., Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J. M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Yousri, Noha A., Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Hwu, Chii-Min, Hung, Yi-Jen, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Lamina, Claudia, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, EWarwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Vazquez-Moreno, Miguel, Feitosa, Mary F., Wojczynski, Mary K., Wang, Zhe, Preuss, Michael H., Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Tsao, Noah L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Le, Phuong, Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Frank, Mirjam, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Bayyana, Swati, Stringham, Heather M., Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R. H. J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Nardone, Giuseppe Giovanni, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R. B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, Li, Xiaoyin, Liang, Jingjing, Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H. H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W. J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Chen, Yii-Der Ida, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Kardia, Sharon L. R., Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, Hollander, Anneke Iden, Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D. C., Arnett, Donna K., Hunt, Steven C., Walker, Mark, Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Costanzo, Maria C., Jang, Dongkeun, Burtt, Noël P., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, EShyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N. A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Qu, Jia, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, Hart, Leen M.‘t, Elders, Petra J. M., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J. F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F. A., Kiemeney, Lambertus A. L. M., de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., van Dijk, Ko Willems, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Chuang, Lee-Ming, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K. E., Boomsma, Dorret I., Willemsen, Allegonda H. M., Cupples, LAdrienne, van Meurs, Joyce B. J., Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, YEugene, Ho, Yuk-Lam, Lynch, Julie A., Rader, Daniel J., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O’Donnell, Christopher J., Gaziano, John M., Wilson, Peter W. F., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Mohlke, Karen L., Sun, Yan V., Morris, Andrew P., Boehnke, Michael, Brown, Christopher D., Natarajan, Pradeep, Deloukas, Panos, Willer, Cristen J., Assimes, Themistocles L., and Peloso, Gina M.
Abstract: Additional file 9: Figure S3. Lipid traits – tissue/cell type associations estimated by DESE according to GTEx gene-level and GTEx transcript-level selective expression.
Published: 2023
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204. Segmentierung der Prostata aus MRT-Bilddaten mittels eines statistischen Modells

Author: Dänzer, Stefan, Freitag, Stefan, Beyersdorff, Dirk, Scholz, Markus, Burgert, Oliver, Stolzenburg, Jens-Uwe, Handels, Heinz, editor, Ehrhardt, Jan, editor, Deserno, Thomas M., editor, Meinzer, Hans-Peter, editor, and Tolxdorff, Thomas, editor
Published: 2011
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205. Global Peer-to-Peer Classification in Mobile Ad-Hoc Networks: A Requirements Analysis

Author: Gordon, Dawud, Scholz, Markus, Ding, Yong, Beigl, Michael, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Goebel, Randy, editor, Siekmann, Jörg, editor, Wahlster, Wolfgang, editor, Beigl, Michael, editor, Christiansen, Henning, editor, Roth-Berghofer, Thomas R., editor, Kofod-Petersen, Anders, editor, Coventry, Kenny R., editor, and Schmidtke, Hedda R., editor
Published: 2011
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206. Edenheiser, Iris, Elisabeth Tietmeyer, and Susanne Boersma (eds.): What’s Missing? Collecting and Exhibiting Europe.

Author: Scholz, Markus A., primary
Published: 2023
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207. Structural dynamics of water in a supersonic shockwave

Author: Vassholz, Malte, primary, Hoeppe, Hannes P., additional, Hagemann, Johannes, additional, Rosselló, Juan M., additional, Osterhoff, Markus, additional, Mettin, Robert, additional, Möller, Johannes, additional, Scholz, Markus, additional, Boesenberg, Ulrike, additional, Hallmann, Jörg, additional, Kim, Chan, additional, Zozulya, Alexey, additional, Lu, Wei, additional, Shayduk, Roman, additional, Madsen, Anders, additional, and Salditt, Tim, additional
Published: 2023
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208. Fair oder nicht fair, das ist hier die Frage! Die Sicherung der Testfairness als Aufgabe der sonderpädagogischen Diagnostik

Author: Renner, Gerolf and Scholz, Markus
Subjects: Sonderpädagogische Diagnostik, ddc:370, 370 Erziehung, Schul- und Bildungswesen
Published: 2022

209. Individual hematotoxicity prediction of further chemotherapy cycles by dynamic mathematical models in patients with gastrointestinal tumors

Author: Topf, Vivien, primary, Kheifetz, Yuri, additional, Daum, Severin, additional, Ballhausen, Alexej, additional, Schwarzer, Andreas, additional, Trung, Kien VU, additional, Stocker, Gertraud, additional, Aigner, Achim, additional, Lordick, Florian, additional, Scholz, Markus, additional, and Knödler, Maren, additional
Published: 2022
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210. Normal range of intraoperative three-dimensional derived right ventricular strain in coronary artery bypass surgery patients

Author: Fassl, Jens, primary, Labus, Jakob, additional, Winata, Johan, additional, Schmidt, Torsten, additional, Nicolai, Joachim, additional, Zwaag, Stanislaw Vander, additional, Sveric, Kunislav, additional, Wilbring, Manuel, additional, and Scholz, Markus, additional
Published: 2022
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211. Evaluation of S- and M-Proteins Expressed in Escherichia coli and HEK Cells for Serological Detection of Antibodies in Response to SARS-CoV-2 Infections and mRNA-Based Vaccinations

Author: Schwarze, Mandy, primary, Luo, Ji, additional, Brakel, Alexandra, additional, Krizsan, Andor, additional, Lakowa, Nicole, additional, Grünewald, Thomas, additional, Lehmann, Claudia, additional, Wolf, Johannes, additional, Borte, Stephan, additional, Milkovska-Stamenova, Sanja, additional, Gabert, Jörg, additional, Scholz, Markus, additional, and Hoffmann, Ralf, additional
Published: 2022
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212. Is There an Association Between Clinical and SEM Quantitative Marginal Analysis in a 90-month Trial?

Author: Haak, Rainer, Brückner, Amelie, Häfer, Matthias, Scholz, Markus, and Schneider, Hartmut
Subjects: PARTICULATE matter, QUANTITATIVE research, TREATMENT effectiveness, ADHESIVES
Abstract: Purpose: To assess possible correlations between clinical outcomes and SEM marginal analysis in a prospective long-term clinical study using two adhesives in incisors and canines. Materials and Methods: Thirty-five patients received class III and IV restorations with two different adhesives, either the one-step self-etch adhesive iBond Gluma inside (1-SE) or the two-step etch-and-rinse adhesive Gluma Comfort Bond (2-ER) combined with the fine particle hybrid composite Venus. The restorations were clinically evaluated (modified USPHS criteria) over 90 months. Based on resin replicas, a quantitative marginal SEM analysis was performed using the criteria "gap", "perfect margin", "overhang", and "underfilled". The results of the quantitative marginal analysis were statistically compared and related to clinical evaluations. The SEM data were analyzed statistically using the Kolmogorov-Smirnov test, Wilcoxon test, and mixed models test. Results: Of the 35 subjects at baseline, 16 (1-SE) and 17 (2-ER) were clinically re-examined after 90 months. 13 patients were included in the SEM analysis due to uninterrupted documentation over 90 months or until restoration loss. SEM analysis showed larger discriminative power between groups than did the clinical examination, but the trend was the same. Marginal analysis ("gap", "perfect margin") showed significant differences between the materials after 12 months, which clinically began to show a trend from 12 months, and were statistically verified after 48 and 90 months. "Overhang" and "underfilled" did not reveal significant differences between the systems or over time. Conclusion: SEM marginal analysis using the replication technique is a powerful tool to reveal differences between adhesives. Compared to clinical evaluation, group differences can be detected earlier, with both outcome parameters confirming each other over long observation periods. [ABSTRACT FROM AUTHOR]
Published: 2021
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213. Wie praktische Probleme aus ungerechtfertigter Theorieübertragung hervorgehen können: Eine Fallstudie des populationsökologischen Ansatzes in der Organisationstheorie

Author: Scholz, Markus, Reydon, Thomas A.C., Scherer, Andreas Georg, editor, and Patzer, Moritz, editor
Published: 2008
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214. Die römischen Steinbruchinschriften des Brohltals

Author: Scholz, Markus, primary and Schaaff, Holger, additional
Published: 2017
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215. A meta-analysis of genome-wide studies of resilience in the German population

Author: Herrera-Rivero, Marisol, Garvert, Linda, Horn, Katrin, Löbner, Margrit, Weitzel, Elena Caroline, Stoll, Monika, Lichtner, Peter, Teismann, Henning, Teumer, Alexander, Van der Auwera, Sandra, Völzke, Henry, Völker, Uwe, Andlauer, Till F. M., Meinert, Susanne, Heilmann-Heimbach, Stefanie, Forstner, Andreas J., Streit, Fabian, Witt, Stephanie H., Kircher, Tilo, Dannlowski, Udo, Scholz, Markus, Riedel-Heller, Steffi G., Grabe, Hans J., Baune, Bernhard T., and Berger, Klaus
Abstract: Resilience is the capacity to adapt to stressful life events. As such, this trait is associated with physical and mental functions and conditions. Here, we aimed to identify the genetic factors contributing to shape resilience. We performed variant- and gene-based meta-analyses of genome-wide association studies from six German cohorts (N = 15822) using the 11-item version of the Resilience Scale (RS-11) as outcome measure. Variant- and gene-level results were combined to explore the biological context using network analysis. In addition, we conducted tests of correlation between RS-11 and the polygenic scores (PGSs) for 12 personality and mental health traits in one of these cohorts (PROCAM-2, N = 3879). The variant-based analysis found no signals associated with resilience at the genome-wide level (p < 5 × 10−8), but suggested five genomic loci (p < 1 × 10−5). The gene-based analysis identified three genes (ROBO1, CIB3and LYPD4) associated with resilience at genome-wide level (p < 2.48 × 10−6) and 32 potential candidates (p < 1 × 10−4). Network analysis revealed enrichment of biological pathways related to neuronal proliferation and differentiation, synaptic organization, immune responses and vascular homeostasis. We also found significant correlations (FDR < 0.05) between RS-11 and the PGSs for neuroticism and general happiness. Overall, our observations suggest low heritability of resilience. Large, international efforts will be required to uncover the genetic factors that contribute to shape trait resilience. Nevertheless, as the largest investigation of the genetics of resilience in general population to date, our study already offers valuable insights into the biology potentially underlying resilience and resilience’s relationship with other personality traits and mental health.
Published: 2024
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216. Szenarien für den Verlauf der SARS-CoV-2-Pandemie im Winter 2022/23 - Ergebnisse eines Workshops des Modellierungsnetzes für schwere Infektionskrankheiten (Modellierungsnetz)

Author: Berndt, Jan Ole, Conrad, Tim, Hasenauer, Jan, Karch, André, Kheifetz, Yuri, Kirsten, Holger, Krueger, Tyll, Kühn, Martin J., Kuhlmann, Alexander, Lange, Berit, Leithäuser, Neele, Loeffler, Markus, Mikolajczyk, Rafael, Mohring, Jan, Müller, Sebastian, Nagel, Kai, Priesemann, Viola, Rodiah, Isti, Scholz, Markus, Schütte, Christof, Timm, Ingo J., and Valdez, André Calero
Subjects: SARS-CoV-2, Modellierung, Szenario-Simulationen
Abstract: Im Rahmen eines Workshops des Modellierungsnetzes für schwere Infektionskrankheiten (Modellierungsnetz) wurden drei mögliche Szenarien für den weiteren Verlauf der SARS-CoV-2-Pandemie im Herbst/Winter 2022/2023 simuliert. In Szenario 1 wird angenommen, dass in diesem Zeitraum keine neue Virusvariante auftritt. In diesem Fall ergeben die Simulationen, dass im Verlauf des Winters eine Infektionswelle zu erwarten ist, die wahrscheinlich zu keiner übermäßigen Belastung der Krankenhäuser führt. Allerdings könnte es wegen vieler Infektionen zu einer Verschärfung des Personalmangels in kritischen Infrastrukturen kommen. In Szenario 2 wird angenommen, dass sich eine neue Virusvariante durchsetzt, die zwar den bisherigen Immunschutz teilweise umgeht, aber nicht zu mehr schweren Verläufen führt. Dies würde voraussichtlich in einer Belastung des Gesundheitssystems resultieren, die in der Größenordnung der bisherigen Spitzenwerte während der BA.1/2-Welle liegt. In Szenario 3 wird ebenfalls angenommen, dass sich eine neue Virusvariante durchsetzt. Im Gegensatz zum zweiten Szenario führt diese neue Variante zusätzlich zu schwereren Verläufen (ähnlich zur Delta-Variante). In diesem Fall könnten die bisher erreichten Spitzenwerte der Krankenhausbelastung in der Pandemie deutlich überschritten werden. Würde eine Impfkampagne im Oktober beginnen, zeigen die Simulationen, dass sich vor allem in Szenario 2 und 3 relevant die Anzahl derer Menschen reduziert, die mit einer SARS-CoV-2-Infektion im Krankenhaus behandelt werden müssten. Insbesondere im dritten Szenario ist es jedoch möglich, dass Impfstrategieänderungen alleine nicht ausreichend sind, um unterhalb der bisherigen Spitzenwerte bei Krankenhausbelegungen zu bleiben. Konkrete Aussagen zur erwarteten Gefährdung und möglichen Gegenmaßnahmen sind erst dann möglich, wenn sich eine neue Virusvariante tatsächlich durchsetzt.
Published: 2022
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217. The value of noncoronary atherosclerosis for identifying coronary artery disease: results of the Leipzig LIFE Heart Study

Author: Weissgerber, Alexander, Scholz, Markus, Teren, Andrej, Sandri, Marcus, Teupser, Daniel, Gielen, Stephan, Thiery, Joachim, Schuler, Gerhard, and Beutner, Frank
Published: 2016
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218. Impact of Clonal Hematopoiesis in Patients With Cardiogenic Shock Complicating Acute Myocardial Infarction

Author: Böhme, Matthias, primary, Desch, Steffen, additional, Rosolowski, Maciej, additional, Scholz, Markus, additional, Krohn, Knut, additional, Büttner, Petra, additional, Cross, Michael, additional, Kirchberg, Janine, additional, Rommel, Karl-Philipp, additional, Pöss, Janine, additional, Freund, Anne, additional, Baber, Ronny, additional, Isermann, Berend, additional, Ceglarek, Uta, additional, Metzeler, Klaus H., additional, Platzbecker, Uwe, additional, and Thiele, Holger, additional
Published: 2022
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219. Resolving molecular diffusion and aggregation of antibody proteins with megahertz X-ray free-electron laser pulses

Author: Reiser, Mario, primary, Girelli, Anita, additional, Ragulskaya, Anastasia, additional, Das, Sudipta, additional, Berkowicz, Sharon, additional, Bin, Maddalena, additional, Ladd-Parada, Marjorie, additional, Filianina, Mariia, additional, Poggemann, Hanna-Friederike, additional, Begam, Nafisa, additional, Akhundzadeh, Mohammad Sayed, additional, Timmermann, Sonja, additional, Randolph, Lisa, additional, Chushkin, Yuriy, additional, Seydel, Tilo, additional, Boesenberg, Ulrike, additional, Hallmann, Jörg, additional, Möller, Johannes, additional, Rodriguez-Fernandez, Angel, additional, Rosca, Robert, additional, Schaffer, Robert, additional, Scholz, Markus, additional, Shayduk, Roman, additional, Zozulya, Alexey, additional, Madsen, Anders, additional, Schreiber, Frank, additional, Zhang, Fajun, additional, Perakis, Fivos, additional, and Gutt, Christian, additional
Published: 2022
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220. Impact of the changing landscape of induction therapy prior to autologous stem cell transplantation in 540 newly diagnosed myeloma patients: a retrospective real-world study

Author: Wang, Song-Yau, primary, Holzhey, Tanja, additional, Heyn, Simone, additional, Zehrfeld, Thomas, additional, Fricke, Susann, additional, Hoffmann, Franz Albert, additional, Becker, Cornelia, additional, Braunert, Leanthe, additional, Edelmann, Thomas, additional, Paulenz, Inessa, additional, Hitzschke, Marcus, additional, Flade, Franziska, additional, Schwarzer, Andreas, additional, Fenchel, Klaus, additional, Franke, Georg-Nikolaus, additional, Vucinic, Vladan, additional, Jentzsch, Madlen, additional, Schwind, Sebastian, additional, Hell, Saskia, additional, Backhaus, Donata, additional, Lange, Thoralf, additional, Niederwieser, Dietger, additional, Scholz, Markus, additional, Platzbecker, Uwe, additional, and Pönisch, Wolfram, additional
Published: 2022
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221. Biomarkers for Non-Invasive Stratification of Coronary Artery Disease and Prognostic Impact on Long-Term Survival in Patients with Stable Coronary Heart Disease

Author: Netto, Jeffrey, primary, Teren, Andrej, additional, Burkhardt, Ralph, additional, Willenberg, Anja, additional, Beutner, Frank, additional, Henger, Sylvia, additional, Schuler, Gerhard, additional, Thiele, Holger, additional, Isermann, Berend, additional, Thiery, Joachim, additional, Scholz, Markus, additional, and Kaiser, Thorsten, additional
Published: 2022
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222. A biomathematical model of atherosclerosis in mice

Author: Schirm, Sibylle, primary, Haghikia, Arash, additional, Brack, Markus, additional, Ahnert, Peter, additional, Nouailles, Geraldine, additional, Suttorp, Norbert, additional, Loeffler, Markus, additional, Witzenrath, Martin, additional, and Scholz, Markus, additional
Published: 2022
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223. Antecedents of Business Engagement in Partnerships for Sustainability

Author: Riegler, Maria Antonia, primary, Burton, Anna M., additional, Scholz, Markus, additional, and Jarmai, Katharina, additional
Published: 2022
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224. Seminal plasma adipokine levels are correlated with functional characteristics of spermatozoa

Author: Thomas, Stephanie, Kratzsch, Dorothea, Schaab, Michael, Scholz, Markus, Grunewald, Sonja, Thiery, Joachim, Paasch, Uwe, and Kratzsch, Juergen
Published: 2013
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225. Abstract 20123: Impact of Cardiac Biomarkers in Patients With Stable Coronary Heart Disease on the Severity of Coronary Obstruction and Survival

Author: Netto, Jeffrey, Thiery, Joachim, Burkhardt, Ralph, Schlegel, Valentin, Willenberg, Anja, Bae, Yoon Ju, Beutner, Frank, Schuler, Gerhard, Scholz, Markus, and Teren, Andrej
Published: 2017

226. Abstract 18632: Relationship Between History of Tobacco Smoking and the Clinical Manifestation of Non-obstructive Coronary Artery Disease

Author: Teren, Andrej, Beutner, Frank, Burkhardt, Ralph, Scholz, Markus, Schuler, Gerhard, and Thiery, Joachim
Published: 2017

227. Impact of Selection Bias on Estimation of Subsequent Event Risk

Author: Hu, Yi-Juan, Schmidt, Amand F., Dudbridge, Frank, Holmes, Michael V., Brophy, James M., Tragante, Vinicius, Li, Ziyi, Liao, Peizhou, Quyyumi, Arshed A., McCubrey, Raymond O., Horne, Benjamin D., Hingorani, Aroon D., Asselbergs, Folkert W., Patel, Riyaz S., Long, Qi, Åkerblom, Axel, Algra, Ale, Allayee, Hooman, Almgren, Peter, Anderson, Jeffrey L., Andreassi, Maria G., Anselmi, Chiara V., Ardissino, Diego, Arsenault, Benoit J., Ballantyne, Christie M., Baranova, Ekaterina V., Behloui, Hassan, Bergmeijer, Thomas O., Bezzina, Connie R., Bjornsson, Eythor, Body, Simon C., Boeckx, Bram, Boersma, Eric (H.), Boerwinkle, Eric, Bogaty, Peter, Braund, Peter S., Breitling, Lutz P., Brenner, Hermann, Briguori, Carlo, Brugts, Jasper J., Burkhardt, Ralph, Cameron, Vicky A., Carlquist, John F., Carpeggiani, Clara, Carruthers, Kathryn F., Casu, Gavino, Condorelli, Gianluigi, Cresci, Sharon, Danchin, Nicolas, de Faire, Ulf, Deanfield, John, Delgado, Graciela, Deloukas, Panos, Direk, Kenan, Doughty, Robert N., Drexel, Heinz, Duarte, Nubia E., Dubé, Marie-Pierre, Dufresne, Line, Engert, James C., Eriksson, Niclas, Fitzpatrick, Natalie, Foco, Luisa, Ford, Ian, Fox, Keith A.A., Gigante, Bruna, Gijsberts, Crystel M., Girelli, Domenico, Gong, Yan, Gudbjartsson, Daniel F., Hagström, Emil, Hartiala, Jaana, Hazen, Stanley L., Held, Claes, Helgadottir, Anna, Hemingway, Harry, Heydarpour, Mahyar, Hoefer, Imo E., Hovingh, Kees, Hubacek, Jaroslav A., James, Stefan, Johnson, Julie A., Wouter Jukema, J., Kaczor, Marcin P., Kaminski, Karol A., Kettner, Jiri, Kiliszek, Marek, Kleber, Marcus, Klungel, Olaf H., Kofink, Daniel, Kohonen, Mika, Kotti, Salma, Kuukasjärvi, Pekka, Lagerqvist, Bo, Lambrechts, Diether, Lang, Chim C., Laurikka, Jari O., Leander, Karin, Lee, Vei-Vei, Lehtimäki, Terho, Leiherer, Andreas, Lenzini, Petra A., Levin, Daniel, Lindholm, Daniel, Lokki, Marja-Liisa, Lotufo, Paulo A., Lyytikäinen, Leo-Pekka, Khan Mahmoodi, B., Maitland-van der Zee, Anke H., Martinelli, Nicola, März, Winfried, Marziliano, Nicola, McPherson, Ruth, Melander, Olle, Mons, Ute, Muehlschlegel, Jochen D., Muhlestein, Joseph B., Nelson, Cristopher P., Newton Cheh, Chris, Olivieri, Oliviero, Opolski, Grzegorz, Palmer, Colin N., Pare, Guillaume, Pasterkamp, Gerard, Pepine, Carl J., Pepinski, Witold, Pereira, Alexandre C., Pilbrow, Anna P., Pilote, Louise, Pitha, Jan, Ploski, Rafal, Mark Richards, A., Saely, Christoph H., Samani, Nilesh J., Samman-Tahhan, Ayman, Sanak, Marek, Sandesara, Pratik B., Sattar, Naveed, Scholz, Markus, Siegbahn, Agneta, Simon, Tabassome, Sinisalo, Juha, Gustav Smith, J., Spertus, John A., Stefansson, Kari, Stewart, Alexandre F.R., Stott, David J., Szczeklik, Wojciech, Szpakowicz, Anna, Tanck, Michael W.T., Tang, Wilson H., Tardif, Jean-Claude, ten Berg, Jur M., Teren, Andrej, Thanassoulis, George, Thiery, Joachim, Thorgeirsson, Gudmundur, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Timmis, Adam, Trompet, Stella, van de Werf, Frans, van der Graaf, Yolanda, van der Haarst, Pim, van der Laan, Sander W., Vilmundarson, Ragnar O., Virani, Salim S., Visseren, Frank L.J., Vlachopoulou, Efthymia, Wallentin, Lars, Waltenberger, Johannes, Wauters, Els, and Wilde, Arthur A.M.
Published: 2017
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228. A pulmonologist's guide to perform and analyse cross-species single lung cell transcriptomics

Author: Pennitz, Peter, primary, Kirsten, Holger, additional, Friedrich, Vincent D., additional, Wyler, Emanuel, additional, Goekeri, Cengiz, additional, Obermayer, Benedikt, additional, Heinz, Gitta A., additional, Mashreghi, Mir-Farzin, additional, Büttner, Maren, additional, Trimpert, Jakob, additional, Landthaler, Markus, additional, Suttorp, Norbert, additional, Hocke, Andreas C., additional, Hippenstiel, Stefan, additional, Tönnies, Mario, additional, Scholz, Markus, additional, Kuebler, Wolfgang M., additional, Witzenrath, Martin, additional, Hoenzke, Katja, additional, and Nouailles, Geraldine, additional
Published: 2022
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229. On the Parametrization of Epidemiologic Models—Lessons from Modelling COVID-19 Epidemic

Author: Kheifetz, Yuri, primary, Kirsten, Holger, additional, and Scholz, Markus, additional
Published: 2022
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230. Associations of Polymorphisms in the Peroxisome Proliferator-Activated Receptor Gamma Coactivator-1 Alpha Gene With Subsequent Coronary Heart Disease: An Individual-Level Meta-Analysis

Author: Schillemans, Tessa, primary, Tragante, Vinicius, additional, Maitusong, Buamina, additional, Gigante, Bruna, additional, Cresci, Sharon, additional, Laguzzi, Federica, additional, Vikström, Max, additional, Richards, Mark, additional, Pilbrow, Anna, additional, Cameron, Vicky, additional, Foco, Luisa, additional, Doughty, Robert N., additional, Kuukasjärvi, Pekka, additional, Allayee, Hooman, additional, Hartiala, Jaana A., additional, Tang, W. H. Wilson, additional, Lyytikäinen, Leo-Pekka, additional, Nikus, Kjell, additional, Laurikka, Jari O., additional, Srinivasan, Sundararajan, additional, Mordi, Ify R., additional, Trompet, Stella, additional, Kraaijeveld, Adriaan, additional, van Setten, Jessica, additional, Gijsberts, Crystel M., additional, Maitland-van der Zee, Anke H., additional, Saely, Christoph H., additional, Gong, Yan, additional, Johnson, Julie A., additional, Cooper-DeHoff, Rhonda M., additional, Pepine, Carl J., additional, Casu, Gavino, additional, Leiherer, Andreas, additional, Drexel, Heinz, additional, Horne, Benjamin D., additional, van der Laan, Sander W., additional, Marziliano, Nicola, additional, Hazen, Stanley L., additional, Sinisalo, Juha, additional, Kähönen, Mika, additional, Lehtimäki, Terho, additional, Lang, Chim C., additional, Burkhardt, Ralph, additional, Scholz, Markus, additional, Jukema, J. Wouter, additional, Eriksson, Niclas, additional, Åkerblom, Axel, additional, James, Stefan, additional, Held, Claes, additional, Hagström, Emil, additional, Spertus, John A., additional, Algra, Ale, additional, de Faire, Ulf, additional, Åkesson, Agneta, additional, Asselbergs, Folkert W., additional, Patel, Riyaz S., additional, and Leander, Karin, additional
Published: 2022
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231. Assessing the Legitimacy of Corporate Political Activity: Uber and the Quest for Responsible Innovation

Author: de los Reyes, Gastón, primary and Scholz, Markus, additional
Published: 2022
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232. Simultaneous Mass Spectrometry-Based Apolipoprotein Profiling and Apolipoprotein E Phenotyping in Patients with ASCVD and Mild Cognitive Impairment

Author: Begcevic Brkovic, Ilijana, primary, Zöhrer, Benedikt, additional, Scholz, Markus, additional, Reinicke, Madlen, additional, Dittrich, Julia, additional, Kamalsada, Surab, additional, Baber, Ronny, additional, Beutner, Frank, additional, Teren, Andrej, additional, Engel, Christoph, additional, Wirkner, Kerstin, additional, Thiele, Holger, additional, Löffler, Markus, additional, Riedel-Heller, Steffi G., additional, and Ceglarek, Uta, additional
Published: 2022
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233. Scientific experimentation in the special needs schools for pupils with intellectual disabilities: promoting and recording experimental competence

Author: Klein, Lara‐Sophie, primary, Scholz, Markus, additional, and Risch, Björn, additional
Published: 2022
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234. DNA methylation patterns reflect individual's lifestyle independent of obesity

Author: Klemp, Ireen, primary, Hoffmann, Anne, additional, Müller, Luise, additional, Hagemann, Tobias, additional, Horn, Kathrin, additional, Rohde‐Zimmermann, Kerstin, additional, Tönjes, Anke, additional, Thiery, Joachim, additional, Löffler, Markus, additional, Burkhardt, Ralph, additional, Böttcher, Yvonne, additional, Stumvoll, Michael, additional, Blüher, Matthias, additional, Krohn, Knut, additional, Scholz, Markus, additional, Baber, Ronny, additional, Franks, Paul W, additional, Kovacs, Peter, additional, and Keller, Maria, additional
Published: 2022
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235. Genetically regulated gene expression and proteins revealed discordant effects

Author: Pott, Janne, primary, Garcia, Tarcyane, additional, Hauck, Stefanie M., additional, Petrera, Agnese, additional, Wirkner, Kerstin, additional, Loeffler, Markus, additional, Kirsten, Holger, additional, Peters, Annette, additional, and Scholz, Markus, additional
Published: 2022
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236. Femtosecond x-ray diffraction study of multi-THz coherent phonons in SrTiO3

Author: Shayduk, Roman, primary, Hallmann, Jörg, additional, Rodriguez-Fernandez, Angel, additional, Scholz, Markus, additional, Lu, Wei, additional, Bösenberg, Ulrike, additional, Möller, Johannes, additional, Zozulya, Alexey, additional, Jiang, Man, additional, Wegner, Ulrike, additional, Secareanu, Radu-Costin, additional, Palmer, Guido, additional, Emons, Moritz, additional, Lederer, Max, additional, Volkov, Sergey, additional, Lindfors-Vrejoiu, Ionela, additional, Schick, Daniel, additional, Herzog, Marc, additional, Bargheer, Matias, additional, and Madsen, Anders, additional
Published: 2022
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237. Prevalence of atrial fibrillation dependent on coronary artery status: Insights from the LIFE‐Heart Study

Author: Kornej, Jelena, Henger, Sylvia, Seewöster, Timm, Teren, Andrej, Burkhardt, Ralph, Thiele, Holger, Thiery, Joachim, and Scholz, Markus
Subjects: Male, Cardiac Catheterization, CAD origin, prevalence, Clinical Investigations, coronary artery sclerosis, Coronary Artery Disease, Middle Aged, Coronary Angiography, Coronary Vessels, Electrocardiography, Risk Factors, Germany, Atrial Fibrillation, Humans, Female, cardiovascular diseases, CAD extent, Aged, Retrospective Studies
Abstract: Background Coronary artery disease (CAD) is a significant risk factor for atrial fibrillation (AF). Experimental studies demonstrated that atrial ischemia induced by right coronary artery (RCA) stenosis promote AF triggers and development of electro‐anatomical substrate for AF. Aim To analyze the association between AF prevalence and coronary arteries status in the LIFE‐Heart Study. Methods This analysis included patients with available coronary catheterization data recruited between 2006 and 2014. Patients with acute myocardial infarction were excluded. CAD was defined as stenosis ≥75%, while coronary artery sclerosis (CAS) was defined as non‐critical plaque(s)
Published: 2020

238. Genetically determined reproductive aging and coronary heart disease: a bidirectional two-sample Mendelian Randomization

Author: Dam, Veerle, Onland-Moret, N. Charlotte, Burgess, Stephen, Chirlaque, Maria Dolores, Peters, Sanne A.E., Schuit, Ewoud, Tikk, Kaja, Weiderpass, Elisabete, Oliver-Williams, Clare, Wood, Angela M., Tjønneland, Anne, Dahm, Christina C, Overvad, Kim, Boutron-Rualt, Marie-Christine, Schulze, Matthias B., Trichopoulou, Antonia, Ferrari, Pietro, Masala, Giovanna, Krogh, Vittorio, Tumino, Rosario, Matullo, Giuseppe, Panico, Salvatore, Boer, Jolanda M. A., Verschuren, W.M. Monique, Waaseth, Marit, Pérez, María José Sánchez, Amiano, Pilar, Imaz, Liher, Moreno-Iribas, Conchi, Melander, Olle, Harlid, Sophia, Nordendahl, Maria, Wennberg, Patrik, Key, Timothy J., Riboli, Elio, Santiuste, Carmen, Kaaks, Rudolf, Katzke, Verena, Langenberg, Claudia, Wareham, Nicholas J., Schunkert, Heribert, Erdmann, Jeanette, Willenborg, Christina, Hengstenberg, Christian, Kleber, Marcus E., Delgado, Graciela, März, Winfried, Kanoni, Stavroula, Dedoussis, George, Deloukas, Panos, Nikpay, Majid, McPherson, Ruth, Scholz, Markus, Teren, Andrej, Butterworth, Adam S., and van der Schouw, Yvonne T.
Subjects: Mendelian Randomization, Reproductive aging, coronary heart disease, risk factors, cardiovascular diseases
Abstract: Background: Accelerated reproductive aging, in women indicated by early natural menopause, is associated with increased coronary heart disease (CHD) risk in observational studies. Conversely, an adverse CHD risk profile has been suggested to accelerate menopause. Objectives: To study the direction and evidence for causality of the relationship between reproductive aging and (non-)fatal CHD and CHD risk factors in a bidirectional Mendelian randomization (MR) approach, using age at natural menopause (ANM) genetic variants as a measure for genetically determined reproductive aging in women. We also studied the association of these variants with CHD risk (factors) in men. Design: Two-sample MR, using both cohort data as well as summary statistics, with 4 methods: simple and weighted median-based, standard inverse-variance weighted (IVW) regression, and MR-Egger regression. Participants: Data from EPIC-CVD and summary statistics from UK Biobank and publicly available genome-wide association studies were pooled for the different analyses. Main Outcome Measures: CHD, CHD risk factors, and ANM. Results: Across different methods of MR, no association was found between genetically determined reproductive aging and CHD risk in women (relative risk estimateIVW = 0.99; 95% confidence interval (CI), 0.97-1.01), or any of the CHD risk factors. Similarly, no associations were found in men. Neither did the reversed analyses show evidence for an association between CHD (risk factors) and reproductive aging. Conclusion: Genetically determined reproductive aging is not causally associated with CHD risk (factors) in women, nor were the genetic variants associated in men. We found no evidence for a reverse association in a combined sample of women and men.
Published: 2022
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239. Colecionando ao longo das rotas de navegação: A Norddeutscher Lloyd e a sua importância para o Museu Municipal de História Natural, Etnologia e Comércio de Bremen, 1896-1914

Author: SCHOLZ, Markus Alexander
Subjects: Museologia, Museology, coletas etnográficas, História do Conhecimento, ethnographic collections, History of Knowledge
Abstract: Resumo O Übersee-Museum Bremen foi criado em 1896 como Museu Municipal de História Natural, Etnologia e Comércio. O estabelecimento do museu com essas três seções remonta a uma exposição organizada pelos comerciantes da antiga cidade hanseática no ano de 1890 em cooperação com o diretor das coleções etnográficas e de História Natural da cidade. Juntos, propunham-se a mostrar não só as mercadorias que os comerciantes traziam do ultramar, mas também os entornos naturais e culturais dos espaços de origem dessas mercadorias. A exposição levou à fundação do museu, e as relações entre os funcionários do museu e os comerciantes da cidade se estreitaram. Especialmente a companhia marítima mais importante de Bremen, a Norddeutscher Lloyd, deu o seu apoio em termos financeiros e logísticos, mas também influenciava através das suas sucursais e linhas marítimas onde e quando se podiam adquirir objetos para ampliar os acervos do museu. Dessa maneira, a companhia teve um efeito na produção de conhecimento científico que, nessa época, baseava-se na coleta de objetos etnográficos e espécimes botânicos e zoológicos. Esta contribuição, portanto, volta-se para as redes de contato e os agentes interligados ao museu e aos seus acervos. Abstract The Übersee-Museum Bremen was founded in 1896 as Municipal Museum of Natural History, Ethnology and Trade. Its establishment as a museum composed of these three sections traces back to a commercial exhibition organized by the old Hanseatic city’s merchants in 1890 in cooperation with the director of the city’s ethnographic and natural history collections. Together they intended to display not only the commodities that merchants brought from overseas, but also the natural and cultural spaces from which these products came. The exhibition led to the founding of the museum, and the museum staff and the city’s merchants established close relationships. Bremen’s most important shipping company, the Norddeutscher Lloyd, provided special financial and logistic support to the museum, but it also influenced, through its subsidiaries and shipping lines, where and when objects could be acquired in order to extend the museum’s stocks. The company thus had an effect on scientific knowledge production based upon the collecting of ethnographic objects and botanical and zoological specimens. This article will, therefore, analyze the networks and agents linked to the museum and its holdings.
Published: 2022

240. „Perverse agas, comodo hoc perverse scriptu(m) est” - ein Fluchtäfelchen aus Köln

Author: Blänsdorf, Jürgen, Kropp, Amina, and Scholz, Markus
Published: 2010

241. On the Parametrization of Epidemiologic Models: Lessons from Modelling COVID-19 Epidemic

Author: Kheifetz, Yuri, Kirsten, Holger, Scholz, Markus, Kheifetz, Yuri, Kirsten, Holger, and Scholz, Markus
Abstract: Numerous prediction models of SARS-CoV-2 pandemic were proposed in the past. Unknown parameters of these models are often estimated based on observational data. However, lag in case-reporting, changing testing policy or incompleteness of data lead to biased estimates. Moreover, parametrization is time-dependent due to changing age-structures, emerging virus variants, non-pharmaceutical interventions, and vaccination programs. To cover these aspects, we propose a principled approach to parametrize a SIR-type epidemiologic model by embedding it as a hidden layer into an input-output non-linear dynamical system (IO-NLDS). Observable data are coupled to hidden states of the model by appropriate data models considering possible biases of the data. This includes data issues such as known delays or biases in reporting. We estimate model parameters including their time-dependence by a Bayesian knowledge synthesis process considering parameter ranges derived from external studies as prior information. We applied this approach on a specific SIR-type model and data of Germany and Saxony demonstrating good prediction performances. Our approach can estimate and compare the relative effectiveness of non-pharmaceutical interventions and provide scenarios of the future course of the epidemic under specified conditions. It can be translated to other data sets, i.e., other countries and other SIR-type models.
Published: 2022

242. Associations of Polymorphisms in the Peroxisome Proliferator-Activated Receptor Gamma Coactivator-1 Alpha Gene With Subsequent Coronary Heart Disease: An Individual-Level Meta-Analysis

Author: Schillemans, Tessa, Tragante, Vinicius, Maitusong, Buamina, Gigante, Bruna, Cresci, Sharon, Laguzzi, Federica, Vikström, Max, Richards, Mark, Pilbrow, Anna, Cameron, Vicky, Foco, Luisa, Doughty, Robert N., Kuukasjärvi, Pekka, Allayee, Hooman, Hartiala, Jaana A., Tang, W.H. Wilson, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Laurikka, Jari O., Srinivasan, Sundararajan, Mordi, Ify R., Trompet, Stella, Kraaijeveld, Adriaan, van Setten, Jessica, Gijsberts, Crystel M., Maitland-van der Zee, Anke H., Saely, Christoph H., Gong, Yan, Johnson, Julie A., Cooper-DeHoff, Rhonda M., Pepine, Carl J., Casu, Gavino, Leiherer, Andreas, Drexel, Heinz, Horne, Benjamin D., van der Laan, Sander W., Marziliano, Nicola, Hazen, Stanley L., Sinisalo, Juha, Kähönen, Mika, Lehtimäki, Terho, Lang, Chim C., Burkhardt, Ralph, Scholz, Markus, Jukema, J. Wouter, Eriksson, Niclas, Akerblom, Axel, James, Stefan, Held, Claes, Hagström, Emil, Spertus, John A., Algra, Ale, de Faire, Ulf, Akesson, Agneta, Asselbergs, Folkert W., Patel, Riyaz S., Leander, Karin, Schillemans, Tessa, Tragante, Vinicius, Maitusong, Buamina, Gigante, Bruna, Cresci, Sharon, Laguzzi, Federica, Vikström, Max, Richards, Mark, Pilbrow, Anna, Cameron, Vicky, Foco, Luisa, Doughty, Robert N., Kuukasjärvi, Pekka, Allayee, Hooman, Hartiala, Jaana A., Tang, W.H. Wilson, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Laurikka, Jari O., Srinivasan, Sundararajan, Mordi, Ify R., Trompet, Stella, Kraaijeveld, Adriaan, van Setten, Jessica, Gijsberts, Crystel M., Maitland-van der Zee, Anke H., Saely, Christoph H., Gong, Yan, Johnson, Julie A., Cooper-DeHoff, Rhonda M., Pepine, Carl J., Casu, Gavino, Leiherer, Andreas, Drexel, Heinz, Horne, Benjamin D., van der Laan, Sander W., Marziliano, Nicola, Hazen, Stanley L., Sinisalo, Juha, Kähönen, Mika, Lehtimäki, Terho, Lang, Chim C., Burkhardt, Ralph, Scholz, Markus, Jukema, J. Wouter, Eriksson, Niclas, Akerblom, Axel, James, Stefan, Held, Claes, Hagström, Emil, Spertus, John A., Algra, Ale, de Faire, Ulf, Akesson, Agneta, Asselbergs, Folkert W., Patel, Riyaz S., and Leander, Karin
Abstract: Background: The knowledge of factors influencing disease progression in patients with established coronary heart disease (CHD) is still relatively limited. One potential pathway is related to peroxisome proliferator–activated receptor gamma coactivator-1 alpha (PPARGC1A), a transcription factor linked to energy metabolism which may play a role in the heart function. Thus, its associations with subsequent CHD events remain unclear. We aimed to investigate the effect of three different SNPs in the PPARGC1A gene on the risk of subsequent CHD in a population with established CHD. Methods: We employed an individual-level meta-analysis using 23 studies from the GENetIcs of sUbSequent Coronary Heart Disease (GENIUS-CHD) consortium, which included participants (n = 80,900) with either acute coronary syndrome, stable CHD, or a mixture of both at baseline. Three variants in the PPARGC1A gene (rs8192678, G482S; rs7672915, intron 2; and rs3755863, T528T) were tested for their associations with subsequent events during the follow-up using a Cox proportional hazards model adjusted for age and sex. The primary outcome was subsequent CHD death or myocardial infarction (CHD death/myocardial infarction). Stratified analyses of the participant or study characteristics as well as additional analyses for secondary outcomes of specific cardiovascular disease diagnoses and all-cause death were also performed. Results: Meta-analysis revealed no significant association between any of the three variants in the PPARGC1A gene and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline: rs8192678, hazard ratio (HR): 1.01, 95% confidence interval (CI) 0.98–1.05 and rs7672915, HR: 0.97, 95% CI 0.94–1.00; rs3755863, HR: 1.02, 95% CI 0.99–1.06. Similarly, no significant associations were observed for any of the secondary outcomes. The results from stratified analyses showed null results, except for significant inverse associations between rs7672915 (intro
Published: 2022

243. Simultaneous Mass Spectrometry-Based Apolipoprotein Profiling and Apolipoprotein E Phenotyping in Patients with ASCVD and Mild Cognitive Impairment

Author: Begcevic Brkovic, Ilijana, Zöhrer, Benedikt, Scholz, Markus, Reinicke, Madlen, Dittrich, Julia, Kamalsada, Surab, Baber, Ronny, Beutner, Frank, Teren, Andrej, Engel, Christoph, Wirkner, Kerstin, Thiele, Holger, Löffler, Markus, Riedel-Heller, Steffi G., Ceglarek, Uta, Begcevic Brkovic, Ilijana, Zöhrer, Benedikt, Scholz, Markus, Reinicke, Madlen, Dittrich, Julia, Kamalsada, Surab, Baber, Ronny, Beutner, Frank, Teren, Andrej, Engel, Christoph, Wirkner, Kerstin, Thiele, Holger, Löffler, Markus, Riedel-Heller, Steffi G., and Ceglarek, Uta
Abstract: Apolipoprotein E (apoE) occurs on the majority of plasma lipoproteins and plays a major role in the lipid metabolism in the periphery and in the central nervous system. ApoE is a polymorphic protein with three common isoforms, apoE2, apoE3 and apoE4, derived from respective alleles '2, '3 and '4. The aim of this study was to develop a sample pretreatment protocol combined with rapid mass spectrometry (MS)-based assay for simultaneous apolipoprotein profiling and apoE phenotype identification. This assay was validated in 481 samples from patients with stable atherosclerotic cardiovascular disease (ASCVD) and applied to study association with mild cognitive impairment (MCI) in the LIFE Adult study, including overall 690 study subjects. Simultaneous quantification of 8–12 major apolipoproteins including apoA-I, apoB-100 and apoE could be performed within 6.5 min. Phenotyping determined with the developed MS assay had good agreement with the genotyping by real-time fluorescence PCR (97.5%). ApoE2 isoform was associated with the highest total apoE concentration compared to apoE3 and apoE4 (p < 0.001). In the subgroup of diabetic atherosclerotic cardiovascular disease (ASCVD) patients, apoE2 isoform was related to higher apoC-I levels (apoE2 vs. apoE3, p < 0.05), while in the subgroup of ASCVD patients under statin therapy apoE2 was related to lower apoB-100 levels (apoE2 vs. apoE3/apoE4, p < 0.05). A significant difference in apoE concentration observed between mild cognitive impairment (MCI) subjects and controls was confirmed for each apoE phenotype. In conclusion, this study provides evidence for the successful implementation of an MS-based apoE phenotyping assay, which can be used to assess phenotype effects on plasma lipid and apolipoprotein levels.
Published: 2022

244. Transcriptome Analyses of Adipose Tissue Samples Identify EGFL6 as a Candidate Gene Involved in Obesity-Related Adipose Tissue Dysfunction in Children

Author: Landgraf, Kathrin, Kühnapfel, Andreas, Schlanstein, Maria, Biemann, Ronald, Isermann, Berend, Kempf, Elena, Kirsten, Holger, Scholz, Markus, Körner, Antje, Landgraf, Kathrin, Kühnapfel, Andreas, Schlanstein, Maria, Biemann, Ronald, Isermann, Berend, Kempf, Elena, Kirsten, Holger, Scholz, Markus, and Körner, Antje
Abstract: Obesity develops early in childhood and is accompanied by early signs of adipose tissue (AT) dysfunction and metabolic disease in children. In order to analyse the molecular processes during obesity-related AT accumulation in children, we investigated genome-wide expression profiles in AT samples, isolated adipocytes, and stromal vascular fraction (SVF) cells and assessed their relation to obesity as well as biological and functional AT parameters. We detected alterations in gene expression associated with obesity and related parameters, i.e., BMI SDS, adipocyte size, macrophage infiltration, adiponectin, and/or leptin. While differential gene expression in AT and adipocytes shared an enrichment in metabolic pathways and pathways related to extracellular structural organisation, SVF cells showed an overrepresentation in inflammatory pathways. In adipocytes, we found the strongest positive association for epidermal growth factor-like protein 6 (EGFL6) with adipocyte hypertrophy. EGFL6 was also upregulated during in vitro adipocyte differentiation. In children, EGFL6 expression was positively correlated to parameters of AT dysfunction and metabolic disease such as macrophage infiltration into AT, hs-CRP, leptin levels, and HOMA-IR. In conclusion, we provide evidence for early alterations in AT gene expression related to AT dysfunction in children and identified EGFL6 as potentially being involved in processes underlying the pathogenesis of metabolic disease.
Published: 2022

245. Perioperative Two-Dimensional Left Ventricular Global Longitudinal Strain in Coronary Artery Bypass Surgery: A Prospective Observational Pilot Study

Author: Labus, Jakob, Winata, Johan, Schmidt, Torsten, Nicolai, Joachim, Uhlig, Christopher, Sveric, Kunislav, Alexiou, Konstantin, Scholz, Markus, Fassl, Jens, Labus, Jakob, Winata, Johan, Schmidt, Torsten, Nicolai, Joachim, Uhlig, Christopher, Sveric, Kunislav, Alexiou, Konstantin, Scholz, Markus, and Fassl, Jens
Abstract: Objectives: There are limited data on perioperative left ventricular strain. The authors aimed to describe the entire perioperative course of two-dimensional left ventricular global longitudinal strain in patients undergoing coronary artery bypass graft (CABG) surgery and compare to common parameters of LV function assessment. Design: Prospective observational study. Setting: Single university hospital. Participants: Forty patients scheduled for isolated on-pump CABG surgery with preserved left and right ventricular function with an unremarkable, complication-free perioperative course. Interventions: Two-dimensional strain analysis and standard echocardiographic assessment of left ventricular function were performed pre-(T1) and postoperatively (T4) by transthoracic echocardiography (TTE) and intraoperatively pre-(T2) and poststernotomy (T3) by transesophageal echocardiography (TEE). Echocardiography was performed under stable hemodynamics and predefined fluid management, in sinus rhythm without any vasoactive support. Measurements and Main Results: Analysis of two-dimensional LV global longitudinal strain (2D-LV GLS) was performed using Tomtec 2D Cardiac Performance Analysis software. Philips QLAB 10.8 was used to analyze left ventricular ejection fraction (LV EF) and tissue velocity of the lateral mitral annulus (LV S ). There were no significant differences (median with interquartile range [IQR]) after induction of anesthesia in values of LV EF and 2D-LV GLS (T1 v T2; 59% [IQR, 52 to 64] v 56% [IQR, 51.75 to 63] and -15.2 [IQR, -18.05 to -13.08] v -15.6 [IQR, -17.65 to -13.88]; both not significant [ns]), while LV S'declined (T1 v T2, 7 cm/s [IQR, 5.25 to 8] v 5.25 cm/s [IQR, 4.6 to 6.83]; p < 0.001). Bland-Altman analysis for this comparison of 2D-LV GLS (T1 v T2) showed that bias was not significant between both techniques; however, there were limits of agreement. After sternotomy (T2 v T3) neither LV EF nor 2D-LV GLS or LV S' declined. 2D-LV GLS deteriorated s
Published: 2022

246. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Author: Winkler, Thomas W., Rasheed, Humaira, Teumer, Alexander, Gorski, Mathias, Rowan, Bryce X., Stanzick, Kira J., Thomas, Laurent F., Tin, Adrienne, Hoppmann, Anselm, Chu, Audrey Y., Tayo, Bamidele, Thio, Chris H. L., Cusi, Daniele, Chai, Jin-Fang, Sieber, Karsten B., Horn, Katrin, Li, Man, Scholz, Markus, Cocca, Massimiliano, Wuttke, Matthias, van der Most, Peter J., Yang, Qiong, Ghasemi, Sahar, Nutile, Teresa, Li, Yong, Pontali, Giulia, Guenther, Felix, Dehghan, Abbas, Correa, Adolfo, Parsa, Afshin, Feresin, Agnese, de Vries, Aiko P. J., Zonderman, Alan B., Smith, Albert, V, Oldehinkel, Albertine J., De Grandi, Alessandro, Rosenkranz, Alexander R., Franke, Andre, Teren, Andrej, Metspalu, Andres, Hicks, Andrew A., Morris, Andrew P., Toenjes, Anke, Morgan, Anna, Podgornaia, Anna, I, Peters, Annette, Koerner, Antje, Mahajan, Anubha, Campbell, Archie, Freedman, Barry, I, Spedicati, Beatrice, Ponte, Belen, Schoettker, Ben, Brumpton, Ben, Banas, Bernhard, Kraemer, Bernhard K., Jung, Bettina, Asvold, Bjorn Olav, Smith, Blair H., Ning, Boting, Penninx, Brenda W. J. H., Vanderwerff, Brett R., Psaty, Bruce M., Kammerer, Candace M., Langefeld, Carl D., Hayward, Caroline, Spracklen, Cassandra N., Robinson-Cohen, Cassianne, Hartman, Catharina A., Lindgren, Cecilia M., Wang, Chaolong, Sabanayagam, Charumathi, Heng, Chew-Kiat, Lanzani, Chiara, Khor, Chiea-Chuen, Cheng, Ching-Yu, Fuchsberger, Christian, Gieger, Christian, Shaffer, Christian M., Schulz, Christina-Alexandra, Willer, Cristen J., Chasman, Daniel, I, Gudbjartsson, Daniel F., Ruggiero, Daniela, Toniolo, Daniela, Czamara, Darina, Porteous, David J., Waterworth, Dawn M., Mascalzoni, Deborah, Mook-Kanamori, Dennis O., Reilly, Dermot F., Daw, E. Warwick, Hofer, Edith, Boerwinkle, Eric, Salvi, Erika, Bottinger, Erwin P., Tai, E-Shyong, Catamo, Eulalia, Rizzi, Federica, Guo, Feng, Rivadeneira, Fernando, Guilianini, Franco, Sveinbjornsson, Gardar, Ehret, Georg, Waeber, Gerard, Biino, Ginevra, Girotto, Giorgia, Pistis, Giorgio, Nadkarni, Girish N., Delgado, Graciela E., Montgomery, Grant W., Snieder, Harold, Campbell, Harry, White, Harvey D., Gao, He, Stringham, Heather M., Schmidt, Helena, Li, Hengtong, Brenner, Hermann, Holm, Hilma, Kirsten, Holgen, Kramer, Holly, Rudan, Igor, Nolte, Ilja M., Tzoulaki, Ioanna, Olafsson, Isleifur, Martins, Jade, Cook, James P., Wilson, James F., Halbritter, Jan, Felix, Janine F., Divers, Jasmin, Kooner, Jaspal S., Lee, Jeannette Jen-Mai, O'Connell, Jeffrey, Rotter, Jerome, I, Liu, Jianjun, Xu, Jie, Thiery, Joachim, Ärnlöv, Johan, Kuusisto, Johanna, Jakobsdottir, Johanna, Tremblay, Johanne, Chambers, John C., Whitfield, John B., Gaziano, John M., Marten, Jonathan, Coresh, Josef, Jonas, Jost B., Mychaleckyj, Josyf C., Christensen, Kaare, Eckardt, Kai-Uwe, Mohlke, Karen L., Endlich, Karlhans, Dittrich, Katalin, Ryan, Kathleen A., Rice, Kenneth M., Taylor, Kent D., Ho, Kevin, Nikus, Kjell, Matsuda, Koichi, Strauch, Konstantin, Miliku, Kozeta, Hveem, Kristian, Lind, Lars, Wallentin, Lars, Yerges-Armstrong, Laura M., Raffield, Laura M., Phillips, Lawrence S., Launer, Lenore J., Lyytikainen, Leo-Pekka, Lange, Leslie A., Citterio, Lorena, Klaric, Lucija, Ikram, M. Arfan, Ising, Marcus, Kleber, Marcus E., Francescatto, Margherita, Concas, Maria Pina, Ciullo, Marina, Piratsu, Mario, Orho-Melander, Marju, Laakso, Markku, Loeffler, Markus, Perola, Markus, de Borst, Martin H., Gogele, Martin, La Bianca, Martina, Lukas, Mary Ann, Feitosa, Mary F., Biggs, Mary L., Wojczynski, Mary K., Kavousi, Maryam, Kanai, Masahiro, Akiyama, Masato, Yasuda, Masayuki, Nauck, Matthias, Waldenberger, Melanie, Chee, Miao-Li, Chee, Miao-Ling, Boehnke, Michael, Preuss, Michael H., Stumvoll, Michael, Province, Michael A., Evans, Michele K., O'Donoghue, Michelle L., Kubo, Michiaki, Kahonen, Mika, Kastarinen, Mika, Nalls, Mike A., Kuokkanen, Mikko, Ghanbari, Mohsen, Bochud, Murielle, Josyula, Navya Shilpa, Martin, Nicholas G., Tan, Nicholas Y. Q., Palmer, Nicholette D., Pirastu, Nicola, Schupf, Nicole, Verweij, Niek, Hutri-Kahonen, Nina, Mononen, Nina, Bansal, Nisha, Devuyst, Olivier, Melander, Olle, Raitakari, Olli T., Polasek, Ozren, Manunta, Paolo, Gasparini, Paolo, Mishra, Pashupati P., Sulem, Patrick, Magnusson, Patrik K. E., Elliott, Paul, Ridker, Paul M., Hamet, Pavel, Svensson, Per O., Joshi, Peter K., Kovacs, Peter, Pramstaller, Peter P., Rossing, Peter, Vollenweider, Peter, van der Harst, Pim, Dorajoo, Rajkumar, Sim, Ralene Z. H., Burkhardt, Ralph, Tao, Ran, Noordam, Raymond, Magi, Reedik, Schmidt, Reinhold, de Mutsert, Renee, Rueedi, Rico, van Dam, Rob M., Carroll, Robert J., Gansevoort, Ron T., Loos, Ruth J. F., Felicita, Sala Cinzia, Sedaghat, Sanaz, Padmanabhan, Sandosh, Freitag-Wolf, Sandra, Pendergrass, Sarah A., Graham, Sarah E., Gordon, Scott D., Hwang, Shih-Jen, Kerr, Shona M., Vaccargiu, Simona, Patil, Snehal B., Hallan, Stein, Bakker, Stephan J. L., Lim, Su-Chi, Lucae, Susanne, Vogelezang, Suzanne, Bergmann, Sven, Corre, Tanguy, Ahluwalia, Tarunveer S., Lehtimaki, Terho, Boutin, Thibaud S., Meitinger, Thomas, Wong, Tien-Yin, Bergler, Tobias, Rabelink, Ton J., Esko, Tonu, Haller, Toomas, Thorsteinsdottir, Unnur, Voelker, Uwe, Foo, Valencia Hui Xian, Salomaa, Veikko, Vitart, Veronique, Giedraitis, Vilmantas, Gudnason, Vilmundur, Jaddoe, Vincent W. V., Huang, Wei, Zhang, Weihua, Wei, Wen Bin, Kiess, Wieland, Marz, Winfried, Koenig, Wolfgang, Lieb, Wolfgang, Gao, Xin, Sim, Xueling, Wang, Ya Xing, Friedlander, Yechiel, Tham, Yih-Chung, Kamatani, Yoichiro, Okada, Yukinori, Milaneschi, Yuri, Yu, Zhi, Stark, Klaus J., Stefansson, Kari, Boeger, Carsten A., Hung, Adriana M., Kronenberg, Florian, Koettgen, Anna, Pattaro, Cristian, Heid, Iris M., Winkler, Thomas W., Rasheed, Humaira, Teumer, Alexander, Gorski, Mathias, Rowan, Bryce X., Stanzick, Kira J., Thomas, Laurent F., Tin, Adrienne, Hoppmann, Anselm, Chu, Audrey Y., Tayo, Bamidele, Thio, Chris H. L., Cusi, Daniele, Chai, Jin-Fang, Sieber, Karsten B., Horn, Katrin, Li, Man, Scholz, Markus, Cocca, Massimiliano, Wuttke, Matthias, van der Most, Peter J., Yang, Qiong, Ghasemi, Sahar, Nutile, Teresa, Li, Yong, Pontali, Giulia, Guenther, Felix, Dehghan, Abbas, Correa, Adolfo, Parsa, Afshin, Feresin, Agnese, de Vries, Aiko P. J., Zonderman, Alan B., Smith, Albert, V, Oldehinkel, Albertine J., De Grandi, Alessandro, Rosenkranz, Alexander R., Franke, Andre, Teren, Andrej, Metspalu, Andres, Hicks, Andrew A., Morris, Andrew P., Toenjes, Anke, Morgan, Anna, Podgornaia, Anna, I, Peters, Annette, Koerner, Antje, Mahajan, Anubha, Campbell, Archie, Freedman, Barry, I, Spedicati, Beatrice, Ponte, Belen, Schoettker, Ben, Brumpton, Ben, Banas, Bernhard, Kraemer, Bernhard K., Jung, Bettina, Asvold, Bjorn Olav, Smith, Blair H., Ning, Boting, Penninx, Brenda W. J. H., Vanderwerff, Brett R., Psaty, Bruce M., Kammerer, Candace M., Langefeld, Carl D., Hayward, Caroline, Spracklen, Cassandra N., Robinson-Cohen, Cassianne, Hartman, Catharina A., Lindgren, Cecilia M., Wang, Chaolong, Sabanayagam, Charumathi, Heng, Chew-Kiat, Lanzani, Chiara, Khor, Chiea-Chuen, Cheng, Ching-Yu, Fuchsberger, Christian, Gieger, Christian, Shaffer, Christian M., Schulz, Christina-Alexandra, Willer, Cristen J., Chasman, Daniel, I, Gudbjartsson, Daniel F., Ruggiero, Daniela, Toniolo, Daniela, Czamara, Darina, Porteous, David J., Waterworth, Dawn M., Mascalzoni, Deborah, Mook-Kanamori, Dennis O., Reilly, Dermot F., Daw, E. Warwick, Hofer, Edith, Boerwinkle, Eric, Salvi, Erika, Bottinger, Erwin P., Tai, E-Shyong, Catamo, Eulalia, Rizzi, Federica, Guo, Feng, Rivadeneira, Fernando, Guilianini, Franco, Sveinbjornsson, Gardar, Ehret, Georg, Waeber, Gerard, Biino, Ginevra, Girotto, Giorgia, Pistis, Giorgio, Nadkarni, Girish N., Delgado, Graciela E., Montgomery, Grant W., Snieder, Harold, Campbell, Harry, White, Harvey D., Gao, He, Stringham, Heather M., Schmidt, Helena, Li, Hengtong, Brenner, Hermann, Holm, Hilma, Kirsten, Holgen, Kramer, Holly, Rudan, Igor, Nolte, Ilja M., Tzoulaki, Ioanna, Olafsson, Isleifur, Martins, Jade, Cook, James P., Wilson, James F., Halbritter, Jan, Felix, Janine F., Divers, Jasmin, Kooner, Jaspal S., Lee, Jeannette Jen-Mai, O'Connell, Jeffrey, Rotter, Jerome, I, Liu, Jianjun, Xu, Jie, Thiery, Joachim, Ärnlöv, Johan, Kuusisto, Johanna, Jakobsdottir, Johanna, Tremblay, Johanne, Chambers, John C., Whitfield, John B., Gaziano, John M., Marten, Jonathan, Coresh, Josef, Jonas, Jost B., Mychaleckyj, Josyf C., Christensen, Kaare, Eckardt, Kai-Uwe, Mohlke, Karen L., Endlich, Karlhans, Dittrich, Katalin, Ryan, Kathleen A., Rice, Kenneth M., Taylor, Kent D., Ho, Kevin, Nikus, Kjell, Matsuda, Koichi, Strauch, Konstantin, Miliku, Kozeta, Hveem, Kristian, Lind, Lars, Wallentin, Lars, Yerges-Armstrong, Laura M., Raffield, Laura M., Phillips, Lawrence S., Launer, Lenore J., Lyytikainen, Leo-Pekka, Lange, Leslie A., Citterio, Lorena, Klaric, Lucija, Ikram, M. Arfan, Ising, Marcus, Kleber, Marcus E., Francescatto, Margherita, Concas, Maria Pina, Ciullo, Marina, Piratsu, Mario, Orho-Melander, Marju, Laakso, Markku, Loeffler, Markus, Perola, Markus, de Borst, Martin H., Gogele, Martin, La Bianca, Martina, Lukas, Mary Ann, Feitosa, Mary F., Biggs, Mary L., Wojczynski, Mary K., Kavousi, Maryam, Kanai, Masahiro, Akiyama, Masato, Yasuda, Masayuki, Nauck, Matthias, Waldenberger, Melanie, Chee, Miao-Li, Chee, Miao-Ling, Boehnke, Michael, Preuss, Michael H., Stumvoll, Michael, Province, Michael A., Evans, Michele K., O'Donoghue, Michelle L., Kubo, Michiaki, Kahonen, Mika, Kastarinen, Mika, Nalls, Mike A., Kuokkanen, Mikko, Ghanbari, Mohsen, Bochud, Murielle, Josyula, Navya Shilpa, Martin, Nicholas G., Tan, Nicholas Y. Q., Palmer, Nicholette D., Pirastu, Nicola, Schupf, Nicole, Verweij, Niek, Hutri-Kahonen, Nina, Mononen, Nina, Bansal, Nisha, Devuyst, Olivier, Melander, Olle, Raitakari, Olli T., Polasek, Ozren, Manunta, Paolo, Gasparini, Paolo, Mishra, Pashupati P., Sulem, Patrick, Magnusson, Patrik K. E., Elliott, Paul, Ridker, Paul M., Hamet, Pavel, Svensson, Per O., Joshi, Peter K., Kovacs, Peter, Pramstaller, Peter P., Rossing, Peter, Vollenweider, Peter, van der Harst, Pim, Dorajoo, Rajkumar, Sim, Ralene Z. H., Burkhardt, Ralph, Tao, Ran, Noordam, Raymond, Magi, Reedik, Schmidt, Reinhold, de Mutsert, Renee, Rueedi, Rico, van Dam, Rob M., Carroll, Robert J., Gansevoort, Ron T., Loos, Ruth J. F., Felicita, Sala Cinzia, Sedaghat, Sanaz, Padmanabhan, Sandosh, Freitag-Wolf, Sandra, Pendergrass, Sarah A., Graham, Sarah E., Gordon, Scott D., Hwang, Shih-Jen, Kerr, Shona M., Vaccargiu, Simona, Patil, Snehal B., Hallan, Stein, Bakker, Stephan J. L., Lim, Su-Chi, Lucae, Susanne, Vogelezang, Suzanne, Bergmann, Sven, Corre, Tanguy, Ahluwalia, Tarunveer S., Lehtimaki, Terho, Boutin, Thibaud S., Meitinger, Thomas, Wong, Tien-Yin, Bergler, Tobias, Rabelink, Ton J., Esko, Tonu, Haller, Toomas, Thorsteinsdottir, Unnur, Voelker, Uwe, Foo, Valencia Hui Xian, Salomaa, Veikko, Vitart, Veronique, Giedraitis, Vilmantas, Gudnason, Vilmundur, Jaddoe, Vincent W. V., Huang, Wei, Zhang, Weihua, Wei, Wen Bin, Kiess, Wieland, Marz, Winfried, Koenig, Wolfgang, Lieb, Wolfgang, Gao, Xin, Sim, Xueling, Wang, Ya Xing, Friedlander, Yechiel, Tham, Yih-Chung, Kamatani, Yoichiro, Okada, Yukinori, Milaneschi, Yuri, Yu, Zhi, Stark, Klaus J., Stefansson, Kari, Boeger, Carsten A., Hung, Adriana M., Kronenberg, Florian, Koettgen, Anna, Pattaro, Cristian, and Heid, Iris M.
Abstract: A large-scale GWAS provides insight on diabetes-dependent genetic effects on the glomerular filtration rate, a common metric to monitor kidney health in disease. Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (n(DM) = 178,691, n(noDM) = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.
Published: 2022
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247. Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies

Author: Gorski, Mathias, Rasheed, Humaira, Teumer, Alexander, Thomas, Laurent F., Graham, Sarah E., Sveinbjornsson, Gardar, Winkler, Thomas W., Guenther, Felix, Stark, Klaus J., Chai, Jin-Fang, Tayo, Bamidele O., Wuttke, Matthias, Li, Yong, Tin, Adrienne, Ahluwalia, Tarunveer S., Ärnlöv, Johan, Asvold, Bjorn Olav, Bakker, Stephan J. L., Banas, Bernhard, Bansal, Nisha, Biggs, Mary L., Biino, Ginevra, Bohnke, Michael, Boerwinkle, Eric, Bottinger, Erwin P., Brenner, Hermann, Brumpton, Ben, Carroll, Robert J., Chaker, Layal, Chalmers, John, Chee, Miao-Li, Chee, Miao-Ling, Cheng, Ching-Yu, Chu, Audrey Y., Ciullo, Marina, Cocca, Massimiliano, Cook, James P., Coresh, Josef, Cusi, Daniele, de Borst, Martin H., Degenhardt, Frauke, Eckardt, Kai-Uwe, Endlich, Karlhans, Evans, Michele K., Feitosa, Mary F., Franke, Andre, Freitag-Wolf, Sandra, Fuchsberger, Christian, Gampawar, Piyush, Gansevoort, Ron T., Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Gieger, Christian, Gudbjartsson, Daniel F., Hallan, Stein, Hamet, Pavel, Hishida, Asahi, Ho, Kevin, Hofer, Edith, Holleczek, Bernd, Holm, Hilma, Hoppmann, Anselm, Horn, Katrin, Hutri-Kahonen, Nina, Hveem, Kristian, Hwang, Shih-Jen, Ikram, M. Arfan, Josyula, Navya Shilpa, Jung, Bettina, Kahonen, Mika, Karabegovic, Irma, Khor, Chiea-Chuen, Koenig, Wolfgang, Kramer, Holly, Kramer, Bernhard K., Kuehnel, Brigitte, Kuusisto, Johanna, Laakso, Markku, Lange, Leslie A., Lehtimaki, Terho, Li, Man, Lieb, Wolfgang, Lind, Lars, Lindgren, Cecilia M., Loos, Ruth J. F., Lukas, Mary Ann, Lyytikainen, Leo-Pekka, Mahajan, Anubha, Matias-Garcia, Pamela R., Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Milaneschi, Yuri, Mishra, Pashupati P., Mononen, Nina, Morris, Andrew P., Mychaleckyj, Josyf C., Nadkarni, Girish N., Naito, Mariko, Nakatochi, Masahiro, Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., Nutile, Teresa, O'Donoghue, Michelle L., O'Connell, Jeffrey, Olafsson, Isleifur, Orho-Melander, Marju, Parsa, Afshin, Pendergrass, Sarah A., Penninx, Brenda W. J. H., Pirastu, Mario, Preuss, Michael H., Psaty, Bruce M., Raffield, Laura M., Raitakari, Olli T., Rheinberger, Myriam, Rice, Kenneth M., Rizzi, Federica, Rosenkranz, Alexander R., Rossing, Peter, Rotter, Jerome I., Ruggiero, Daniela, Ryan, Kathleen A., Sabanayagam, Charumathi, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Scholz, Markus, Schoettker, Ben, Schulz, Christina-Alexandra, Sedaghat, Sanaz, Shaffer, Christian M., Sieber, Karsten B., Sim, Xueling, Sims, Mario, Snieder, Harold, Stanzick, Kira J., Thorsteinsdottir, Unnur, Stocker, Hannah, Strauch, Konstantin, Stringham, Heather M., Sulem, Patrick, Szymczak, Silke, Taylor, Kent D., Thio, Chris H. L., Tremblay, Johanne, Vaccargiu, Simona, van der Harst, Pim, van der Most, Peter J., Verweij, Niek, Volker, Uwe, Wakai, Kenji, Waldenberger, Melanie, Wallentin, Lars, Wallner, Stefan, Wang, Judy, Waterworth, Dawn M., White, Harvey D., Willer, Cristen J., Wong, Tien-Yin, Woodward, Mark, Yang, Qiong, Yerges-Armstrong, Laura M., Zimmermann, Martina, Zonderman, Alan B., Bergler, Tobias, Stefansson, Kari, Boger, Carsten A., Pattaro, Cristian, Koettgen, Anna, Kronenberg, Florian, Heid, Iris M., Gorski, Mathias, Rasheed, Humaira, Teumer, Alexander, Thomas, Laurent F., Graham, Sarah E., Sveinbjornsson, Gardar, Winkler, Thomas W., Guenther, Felix, Stark, Klaus J., Chai, Jin-Fang, Tayo, Bamidele O., Wuttke, Matthias, Li, Yong, Tin, Adrienne, Ahluwalia, Tarunveer S., Ärnlöv, Johan, Asvold, Bjorn Olav, Bakker, Stephan J. L., Banas, Bernhard, Bansal, Nisha, Biggs, Mary L., Biino, Ginevra, Bohnke, Michael, Boerwinkle, Eric, Bottinger, Erwin P., Brenner, Hermann, Brumpton, Ben, Carroll, Robert J., Chaker, Layal, Chalmers, John, Chee, Miao-Li, Chee, Miao-Ling, Cheng, Ching-Yu, Chu, Audrey Y., Ciullo, Marina, Cocca, Massimiliano, Cook, James P., Coresh, Josef, Cusi, Daniele, de Borst, Martin H., Degenhardt, Frauke, Eckardt, Kai-Uwe, Endlich, Karlhans, Evans, Michele K., Feitosa, Mary F., Franke, Andre, Freitag-Wolf, Sandra, Fuchsberger, Christian, Gampawar, Piyush, Gansevoort, Ron T., Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Gieger, Christian, Gudbjartsson, Daniel F., Hallan, Stein, Hamet, Pavel, Hishida, Asahi, Ho, Kevin, Hofer, Edith, Holleczek, Bernd, Holm, Hilma, Hoppmann, Anselm, Horn, Katrin, Hutri-Kahonen, Nina, Hveem, Kristian, Hwang, Shih-Jen, Ikram, M. Arfan, Josyula, Navya Shilpa, Jung, Bettina, Kahonen, Mika, Karabegovic, Irma, Khor, Chiea-Chuen, Koenig, Wolfgang, Kramer, Holly, Kramer, Bernhard K., Kuehnel, Brigitte, Kuusisto, Johanna, Laakso, Markku, Lange, Leslie A., Lehtimaki, Terho, Li, Man, Lieb, Wolfgang, Lind, Lars, Lindgren, Cecilia M., Loos, Ruth J. F., Lukas, Mary Ann, Lyytikainen, Leo-Pekka, Mahajan, Anubha, Matias-Garcia, Pamela R., Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Milaneschi, Yuri, Mishra, Pashupati P., Mononen, Nina, Morris, Andrew P., Mychaleckyj, Josyf C., Nadkarni, Girish N., Naito, Mariko, Nakatochi, Masahiro, Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., Nutile, Teresa, O'Donoghue, Michelle L., O'Connell, Jeffrey, Olafsson, Isleifur, Orho-Melander, Marju, Parsa, Afshin, Pendergrass, Sarah A., Penninx, Brenda W. J. H., Pirastu, Mario, Preuss, Michael H., Psaty, Bruce M., Raffield, Laura M., Raitakari, Olli T., Rheinberger, Myriam, Rice, Kenneth M., Rizzi, Federica, Rosenkranz, Alexander R., Rossing, Peter, Rotter, Jerome I., Ruggiero, Daniela, Ryan, Kathleen A., Sabanayagam, Charumathi, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Scholz, Markus, Schoettker, Ben, Schulz, Christina-Alexandra, Sedaghat, Sanaz, Shaffer, Christian M., Sieber, Karsten B., Sim, Xueling, Sims, Mario, Snieder, Harold, Stanzick, Kira J., Thorsteinsdottir, Unnur, Stocker, Hannah, Strauch, Konstantin, Stringham, Heather M., Sulem, Patrick, Szymczak, Silke, Taylor, Kent D., Thio, Chris H. L., Tremblay, Johanne, Vaccargiu, Simona, van der Harst, Pim, van der Most, Peter J., Verweij, Niek, Volker, Uwe, Wakai, Kenji, Waldenberger, Melanie, Wallentin, Lars, Wallner, Stefan, Wang, Judy, Waterworth, Dawn M., White, Harvey D., Willer, Cristen J., Wong, Tien-Yin, Woodward, Mark, Yang, Qiong, Yerges-Armstrong, Laura M., Zimmermann, Martina, Zonderman, Alan B., Bergler, Tobias, Stefansson, Kari, Boger, Carsten A., Pattaro, Cristian, Koettgen, Anna, Kronenberg, Florian, and Heid, Iris M.
Abstract: Estimated glomerular filtration rate (eGFR) reflects kidney function. Progressive eGFR-decline can lead to kidney failure, necessitating dialysis or transplantation. Hundreds of loci from genome-wide association studies (GWAS) for eGFR help explain population cross section variability. Since the contribution of these or other loci to eGFR-decline remains largely unknown, we derived GWAS for annual eGFR-decline and meta-analyzed 62 longitudinal studies with eGFR assessed twice over time in all 343,339 individuals and in high-risk groups. We also explored different covariate adjustment. Twelve genomewide significant independent variants for eGFR-decline unadjusted or adjusted for eGFR- baseline (11 novel, one known for this phenotype), including nine variants robustly associated across models were identified. All loci for eGFR-decline were known for cross-sectional eGFR and thus distinguished a subgroup of eGFR loci. Seven of the nine variants showed variant- by-age interaction on eGFR cross section (further about 350,000 individuals), which linked genetic associations for eGFR-decline with agedependency of genetic cross- section associations. Clinically important were two to four-fold greater genetic effects on eGFR-decline in high-risk subgroups. Five variants associated also with chronic kidney disease progression mapped to genes with functional in- silico evidence (UMOD, SPATA7, GALNTL5, TPPP). An unfavorable versus favorable nine-variant genetic profile showed increased risk odds ratios of 1.35 for kidney failure (95% confidence intervals 1.03- 1.77) and 1.27 for acute kidney injury (95% confidence intervals 1.08-1.50) in over 2000 cases each, with matched controls). Thus, we provide a large data resource, genetic loci, and prioritized genes for kidney function decline, which help inform drug development pipelines revealing important insights into the age-dependency of kidney function genetics.
Published: 2022
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248. Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.

Author: Pott, Janne, Pott, Janne, Gådin, Jesper R, Theusch, Elizabeth, Kleber, Marcus E, Delgado, Graciela E, Kirsten, Holger, Hauck, Stefanie M, Burkhardt, Ralph, Scharnagl, Hubert, Krauss, Ronald M, Loeffler, Markus, März, Winfried, Thiery, Joachim, Silveira, Angela, Van't Hooft, Ferdinand M, Scholz, Markus, Pott, Janne, Pott, Janne, Gådin, Jesper R, Theusch, Elizabeth, Kleber, Marcus E, Delgado, Graciela E, Kirsten, Holger, Hauck, Stefanie M, Burkhardt, Ralph, Scharnagl, Hubert, Krauss, Ronald M, Loeffler, Markus, März, Winfried, Thiery, Joachim, Silveira, Angela, Van't Hooft, Ferdinand M, and Scholz, Markus
Abstract: BackgroundProprotein convertase subtilisin/kexin type 9 (PCSK9) is a key player in lipid metabolism, as it degrades low-density lipoprotein (LDL) receptors from hepatic cell membranes. So far, only variants of the PCSK9 gene locus were found to be associated with PCSK9 levels. Here we aimed to identify novel genetic loci that regulate PCSK9 levels and how they relate to other lipid traits. Additionally, we investigated to what extend the causal effect of PCSK9 on coronary artery disease (CAD) is mediated by low-density lipoprotein-cholesterol (LDL-C).Methods and resultsWe performed a genome-wide association study meta-analysis of PCSK9 levels in up to 12 721 samples of European ancestry. The estimated heritability was 10.3%, which increased to 12.6% using only samples from patients without statin treatment. We successfully replicated the known PCSK9 hit consisting of three independent signals. Interestingly, in a study of 300 African Americans, we confirmed the locus with a different PCSK9 variant. Beyond PCSK9, our meta-analysis detected three novel loci with genome-wide significance. Co-localization analysis with cis-eQTLs and lipid traits revealed biologically plausible candidate genes at two of them: APOB and TM6SF2. In a bivariate Mendelian Randomization analysis, we detected a strong effect of PCSK9 on LDL-C, but not vice versa. LDL-C mediated 63% of the total causal effect of PCSK9 on CAD.ConclusionOur study identified novel genetic loci with plausible candidate genes affecting PCSK9 levels. Ethnic heterogeneity was observed at the PCSK9 locus itself. Although the causal effect of PCSK9 on CAD is mainly mediated by LDL-C, an independent direct effect also occurs.
Published: 2022

249. A saturated map of common genetic variants associated with human height

Author: Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U., Jiang, Yunxuan, Raghavan, Sridharan, Miao, Jenkai, Arias, Joshua D., Graham, Sarah E., Mukamel, Ronen E., Spracklen, Cassandra N., Yin, Xianyong, Chen, Shyh-Huei, Ferreira, Teresa, Highland, Heather H., Ji, Yingjie, Karaderi, Tugce, Lin, Kuang, Lüll, Kreete, Malden, Deborah E., Medina-Gomez, Carolina, Machado, Moara, Moore, Amy, Rüeger, Sina, Sim, Xueling, Vrieze, Scott, Ahluwalia, Tarunveer S., Akiyama, Masato, Allison, Matthew A., Alvarez, Marcus, Andersen, Mette K., Ani, Alireza, Appadurai, Vivek, Arbeeva, Liubov, Bhaskar, Seema, Bielak, Lawrence F., Bollepalli, Sailalitha, Bonnycastle, Lori L., Bork-Jensen, Jette, Bradfield, Jonathan P., Bradford, Yuki, Braund, Peter S., Brody, Jennifer A., Burgdorf, Kristoffer S., Cade, Brian E., Cai, Hui, Cai, Qiuyin, Campbell, Archie, Cañadas-Garre, Marisa, Catamo, Eulalia, Chai, Jin-Fang, Chai, Xiaoran, Chang, Li-Ching, Chang, Yi-Cheng, Chen, Chien-Hsiun, Chesi, Alessandra, Choi, Seung Hoan, Chung, Ren-Hua, Cocca, Massimiliano, Concas, Maria Pina, Couture, Christian, Cuellar-Partida, Gabriel, Danning, Rebecca, Daw, E. Warwick, Degenhard, Frauke, Delgado, Graciela E., Delitala, Alessandro, Demirkan, Ayse, Deng, Xuan, Devineni, Poornima, Dietl, Alexander, Dimitriou, Maria, Dimitrov, Latchezar, Dorajoo, Rajkumar, Ekici, Arif B., Engmann, Jorgen E., Fairhurst-Hunter, Zammy, Farmaki, Aliki-Eleni, Faul, Jessica D., Fernandez-Lopez, Juan-Carlos, Forer, Lukas, Francescatto, Margherita, Freitag-Wolf, Sandra, Fuchsberger, Christian, Galesloot, Tessel E., Gao, Yan, Gao, Zishan, Geller, Frank, Giannakopoulou, Olga, Giulianini, Franco, Gjesing, Anette P., Goel, Anuj, Gordon, Scott D., Gorski, Mathias, Grove, Jakob, Guo, Xiuqing, Gustafsson, Stefan, Haessler, Jeffrey, Hansen, Thomas F., Havulinna, Aki S., Haworth, Simon J., He, Jing, Heard-Costa, Nancy, Hebbar, Prashantha, Hindy, George, Ho, Yuk-Lam A., Hofer, Edith, Holliday, Elizabeth, Horn, Katrin, Hornsby, Whitney E., Hottenga, Jouke-Jan, Huang, Hongyan, Huang, Jie, Huerta-Chagoya, Alicia, Huffman, Jennifer E., Hung, Yi-Jen, Huo, Shaofeng, Hwang, Mi Yeong, Iha, Hiroyuki, Ikeda, Daisuke D., Isono, Masato, Jackson, Anne U., Jäger, Susanne, Jansen, Iris E., Johansson, Ingegerd, Jonas, Jost B., Jonsson, Anna, Jørgensen, Torben, Kalafati, Ioanna-Panagiota, Kanai, Masahiro, Kanoni, Stavroula, Kårhus, Line L., Kasturiratne, Anuradhani, Katsuya, Tomohiro, Kawaguchi, Takahisa, Kember, Rachel L., Kentistou, Katherine A., Kim, Han-Na, Kim, Young Jin, Kleber, Marcus E., Knol, Maria J., Kurbasic, Azra, Lauzon, Marie, Le, Phuong, Lea, Rodney, Lee, Jong-Young, Leonard, Hampton L., Li, Shengchao A., Li, Xiaohui, Li, Xiaoyin, Liang, Jingjing, Lin, Honghuang, Lin, Shih-Yi, Liu, Jun, Liu, Xueping, Lo, Ken Sin, Long, Jirong, Lores-Motta, Laura, Luan, Jian’an, Lyssenko, Valeriya, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamakou, Vasiliki, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Mattheisen, Manuel, Mavarani, Laven, McDaid, Aaron F., Meidtner, Karina, Melendez, Tori L., Mercader, Josep M., Milaneschi, Yuri, Miller, Jason E., Millwood, Iona Y., Mishra, Pashupati P., Mitchell, Ruth E., Møllehave, Line T., Morgan, Anna, Mucha, Soeren, Munz, Matthias, Nakatochi, Masahiro, Nelson, Christopher P., Nethander, Maria, Nho, Chu Won, Nielsen, Aneta A., Nolte, Ilja M., Nongmaithem, Suraj S., Noordam, Raymond, Ntalla, Ioanna, Nutile, Teresa, Pandit, Anita, Christofidou, Paraskevi, Pärna, Katri, Pauper, Marc, Petersen, Eva R. B., Petersen, Liselotte V., Pitkänen, Niina, Polašek, Ozren, Poveda, Alaitz, Preuss, Michael H., Pyarajan, Saiju, Raffield, Laura M., Rakugi, Hiromi, Ramirez, Julia, Rasheed, Asif, Raven, Dennis, Rayner, Nigel W., Riveros, Carlos, Rohde, Rebecca, Ruggiero, Daniela, Ruotsalainen, Sanni E., Ryan, Kathleen A., Sabater-Lleal, Maria, Saxena, Richa, Scholz, Markus, Sendamarai, Anoop, Shen, Botong, Shi, Jingchunzi, Shin, Jae Hun, Sidore, Carlo, Sitlani, Colleen M., Slieker, Roderick C., Smit, Roelof A. J., Smith, Albert V., Smith, Jennifer A., Smyth, Laura J., Southam, Lorraine, Steinthorsdottir, Valgerdur, Sun, Liang, Takeuchi, Fumihiko, Tallapragada, Divya Sri Priyanka, Taylor, Kent D., Tayo, Bamidele O., Tcheandjieu, Catherine, Terzikhan, Natalie, Tesolin, Paola, Teumer, Alexander, Theusch, Elizabeth, Thompson, Deborah J., Thorleifsson, Gudmar, Timmers, Paul R. H. J., Trompet, Stella, Turman, Constance, Vaccargiu, Simona, van der Laan, Sander W., van der Most, Peter J., van Klinken, Jan B., van Setten, Jessica, Verma, Shefali S., Verweij, Niek, Veturi, Yogasudha, Wang, Carol A., Wang, Chaolong, Wang, Lihua, Wang, Zhe, Warren, Helen R., Bin Wei, Wen, Wickremasinghe, Ananda R., Wielscher, Matthias, Wiggins, Kerri L., Winsvold, Bendik S., Wong, Andrew, Wu, Yang, Wuttke, Matthias, Xia, Rui, Xie, Tian, Yamamoto, Ken, Yang, Jingyun, Yao, Jie, Young, Hannah, Yousri, Noha A., Yu, Lei, Zeng, Lingyao, Zhang, Weihua, Zhang, Xinyuan, Zhao, Jing-Hua, Zhao, Wei, Zhou, Wei, Zimmermann, Martina E., Zoledziewska, Magdalena, Adair, Linda S., Adams, Hieab H. H., Aguilar-Salinas, Carlos A., Al-Mulla, Fahd, Arnett, Donna K., Asselbergs, Folkert W., Åsvold, Bjørn Olav, Attia, John, Banas, Bernhard, Bandinelli, Stefania, Bennett, David A., Bergler, Tobias, Bharadwaj, Dwaipayan, Biino, Ginevra, Bisgaard, Hans, Boerwinkle, Eric, Böger, Carsten A., Bønnelykke, Klaus, Boomsma, Dorret I., Børglum, Anders D., Borja, Judith B., Bouchard, Claude, Bowden, Donald W., Brandslund, Ivan, Brumpton, Ben, Buring, Julie E., Caulfield, Mark J., Chambers, John C., Chandak, Giriraj R., Chanock, Stephen J., Chaturvedi, Nish, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Ching-Yu, Christophersen, Ingrid E., Ciullo, Marina, Cole, John W., Collins, Francis S., Cooper, Richard S., Cruz, Miguel, Cucca, Francesco, Cupples, L. Adrienne, Cutler, Michael J., Damrauer, Scott M., Dantoft, Thomas M., de Borst, Gert J., de Groot, Lisette C. P. G. M., De Jager, Philip L., de Kleijn, Dominique P. V., Janaka de Silva, H., Dedoussis, George V., den Hollander, Anneke I., Du, Shufa, Easton, Douglas F., Elders, Petra J. M., Eliassen, A. Heather, Ellinor, Patrick T., Elmståhl, Sölve, Erdmann, Jeanette, Evans, Michele K., Fatkin, Diane, Feenstra, Bjarke, Feitosa, Mary F., Ferrucci, Luigi, Ford, Ian, Fornage, Myriam, Franke, Andre, Franks, Paul W., Freedman, Barry I., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Goddard, Michael E., Golightly, Yvonne M., Gonzalez-Villalpando, Clicerio, Gordon-Larsen, Penny, Grallert, Harald, Grant, Struan F. A., Grarup, Niels, Griffiths, Lyn, Gudnason, Vilmundur, Haiman, Christopher, Hakonarson, Hakon, Hansen, Torben, Hartman, Catharina A., Hattersley, Andrew T., Hayward, Caroline, Heckbert, Susan R., Heng, Chew-Kiat, Hengstenberg, Christian, Hewitt, Alex W., Hishigaki, Haretsugu, Hoyng, Carel B., Huang, Paul L., Huang, Wei, Hunt, Steven C., Hveem, Kristian, Hyppönen, Elina, Iacono, William G., Ichihara, Sahoko, Ikram, M. Arfan, Isasi, Carmen R., Jackson, Rebecca D., Jarvelin, Marjo-Riitta, Jin, Zi-Bing, Jöckel, Karl-Heinz, Joshi, Peter K., Jousilahti, Pekka, Jukema, J. Wouter, Kähönen, Mika, Kamatani, Yoichiro, Kang, Kui Dong, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kato, Norihiro, Kee, Frank, Kessler, Thorsten, Khera, Amit V., Khor, Chiea Chuen, Kiemeney, Lambertus A. L. M., Kim, Bong-Jo, Kim, Eung Kweon, Kim, Hyung-Lae, Kirchhof, Paulus, Kivimaki, Mika, Koh, Woon-Puay, Koistinen, Heikki A., Kolovou, Genovefa D., Kooner, Jaspal S., Kooperberg, Charles, Köttgen, Anna, Kovacs, Peter, Kraaijeveld, Adriaan, Kraft, Peter, Krauss, Ronald M., Kumari, Meena, Kutalik, Zoltan, Laakso, Markku, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Le Marchand, Loic, Lee, Hyejin, Lee, Nanette R., Lehtimäki, Terho, Li, Huaixing, Li, Liming, Lieb, Wolfgang, Lin, Xu, Lind, Lars, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Loeffler, Markus, London, Barry, Lubitz, Steven A., Lye, Stephen J., Mackey, David A., Mägi, Reedik, Magnusson, Patrik K. E., Marcus, Gregory M., Vidal, Pedro Marques, Martin, Nicholas G., März, Winfried, Matsuda, Fumihiko, McGarrah, Robert W., McGue, Matt, McKnight, Amy Jayne, Medland, Sarah E., Mellström, Dan, Metspalu, Andres, Mitchell, Braxton D., Mitchell, Paul, Mook-Kanamori, Dennis O., Morris, Andrew D., Mucci, Lorelei A., Munroe, Patricia B., Nalls, Mike A., Nazarian, Saman, Nelson, Amanda E., Neville, Matt J., Newton-Cheh, Christopher, Nielsen, Christopher S., Nöthen, Markus M., Ohlsson, Claes, Oldehinkel, Albertine J., Orozco, Lorena, Pahkala, Katja, Pajukanta, Päivi, Palmer, Colin N. A., Parra, Esteban J., Pattaro, Cristian, Pedersen, Oluf, Pennell, Craig E., Penninx, Brenda W. J. H., Perusse, Louis, Peters, Annette, Peyser, Patricia A., Porteous, David J., Posthuma, Danielle, Power, Chris, Pramstaller, Peter P., Province, Michael A., Qi, Qibin, Qu, Jia, Rader, Daniel J., Raitakari, Olli T., Ralhan, Sarju, Rallidis, Loukianos S., Rao, Dabeeru C., Redline, Susan, Reilly, Dermot F., Reiner, Alexander P., Rhee, Sang Youl, Ridker, Paul M., Rienstra, Michiel, Ripatti, Samuli, Ritchie, Marylyn D., Roden, Dan M., Rosendaal, Frits R., Rotter, Jerome I., Rudan, Igor, Rutters, Femke, Sabanayagam, Charumathi, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sanghera, Dharambir K., Sattar, Naveed, Schmidt, Börge, Schmidt, Helena, Schmidt, Reinhold, Schulze, Matthias B., Schunkert, Heribert, Scott, Laura J., Scott, Rodney J., Sever, Peter, Shiroma, Eric J., Shoemaker, M. Benjamin, Shu, Xiao-Ou, Simonsick, Eleanor M., Sims, Mario, Singh, Jai Rup, Singleton, Andrew B., Sinner, Moritz F., Smith, J. Gustav, Snieder, Harold, Spector, Tim D., Stampfer, Meir J., Stark, Klaus J., Strachan, David P., ‘t Hart, Leen M., Tabara, Yasuharu, Tang, Hua, Tardif, Jean-Claude, Thanaraj, Thangavel A., Timpson, Nicholas J., Tönjes, Anke, Tremblay, Angelo, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Maria-Teresa, Uitterlinden, Andre G., van Dam, Rob M., van der Harst, Pim, Van der Velde, Nathalie, van Duijn, Cornelia M., van Schoor, Natasja M., Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wacher-Rodarte, Niels H., Walker, Mark, Wang, Ya Xing, Wareham, Nicholas J., Watanabe, Richard M., Watkins, Hugh, Weir, David R., Werge, Thomas M., Widen, Elisabeth, Wilkens, Lynne R., Willemsen, Gonneke, Willett, Walter C., Wilson, James F., Wong, Tien-Yin, Woo, Jeong-Taek, Wright, Alan F., Wu, Jer-Yuarn, Xu, Huichun, Yajnik, Chittaranjan S., Yokota, Mitsuhiro, Yuan, Jian-Min, Zeggini, Eleftheria, Zemel, Babette S., Zheng, Wei, Zhu, Xiaofeng, Zmuda, Joseph M., Zonderman, Alan B., Zwart, John-Anker, Partida, Gabriel Cuellar, Sun, Yan, Croteau-Chonka, Damien, Vonk, Judith M., Chanock, Stephen, Chasman, Daniel I., Cho, Yoon Shin, Heid, Iris M., McCarthy, Mark I., Ng, Maggie C. Y., O’Donnell, Christopher J., Rivadeneira, Fernando, Thorsteinsdottir, Unnur, Sun, Yan V., Tai, E. Shyong, Boehnke, Michael, Deloukas, Panos, Justice, Anne E., Lindgren, Cecilia M., Loos, Ruth J. F., Mohlke, Karen L., North, Kari E., Stefansson, Kari, Walters, Robin G., Winkler, Thomas W., Young, Kristin L., Loh, Po-Ru, Yang, Jian, Esko, Tõnu, Assimes, Themistocles L., Auton, Adam, Abecasis, Goncalo R., Willer, Cristen J., Locke, Adam E., Berndt, Sonja I., Lettre, Guillaume, Frayling, Timothy M., Okada, Yukinori, Wood, Andrew R., Visscher, Peter M., Hirschhorn, Joel N., Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U., Jiang, Yunxuan, Raghavan, Sridharan, Miao, Jenkai, Arias, Joshua D., Graham, Sarah E., Mukamel, Ronen E., Spracklen, Cassandra N., Yin, Xianyong, Chen, Shyh-Huei, Ferreira, Teresa, Highland, Heather H., Ji, Yingjie, Karaderi, Tugce, Lin, Kuang, Lüll, Kreete, Malden, Deborah E., Medina-Gomez, Carolina, Machado, Moara, Moore, Amy, Rüeger, Sina, Sim, Xueling, Vrieze, Scott, Ahluwalia, Tarunveer S., Akiyama, Masato, Allison, Matthew A., Alvarez, Marcus, Andersen, Mette K., Ani, Alireza, Appadurai, Vivek, Arbeeva, Liubov, Bhaskar, Seema, Bielak, Lawrence F., Bollepalli, Sailalitha, Bonnycastle, Lori L., Bork-Jensen, Jette, Bradfield, Jonathan P., Bradford, Yuki, Braund, Peter S., Brody, Jennifer A., Burgdorf, Kristoffer S., Cade, Brian E., Cai, Hui, Cai, Qiuyin, Campbell, Archie, Cañadas-Garre, Marisa, Catamo, Eulalia, Chai, Jin-Fang, Chai, Xiaoran, Chang, Li-Ching, Chang, Yi-Cheng, Chen, Chien-Hsiun, Chesi, Alessandra, Choi, Seung Hoan, Chung, Ren-Hua, Cocca, Massimiliano, Concas, Maria Pina, Couture, Christian, Cuellar-Partida, Gabriel, Danning, Rebecca, Daw, E. Warwick, Degenhard, Frauke, Delgado, Graciela E., Delitala, Alessandro, Demirkan, Ayse, Deng, Xuan, Devineni, Poornima, Dietl, Alexander, Dimitriou, Maria, Dimitrov, Latchezar, Dorajoo, Rajkumar, Ekici, Arif B., Engmann, Jorgen E., Fairhurst-Hunter, Zammy, Farmaki, Aliki-Eleni, Faul, Jessica D., Fernandez-Lopez, Juan-Carlos, Forer, Lukas, Francescatto, Margherita, Freitag-Wolf, Sandra, Fuchsberger, Christian, Galesloot, Tessel E., Gao, Yan, Gao, Zishan, Geller, Frank, Giannakopoulou, Olga, Giulianini, Franco, Gjesing, Anette P., Goel, Anuj, Gordon, Scott D., Gorski, Mathias, Grove, Jakob, Guo, Xiuqing, Gustafsson, Stefan, Haessler, Jeffrey, Hansen, Thomas F., Havulinna, Aki S., Haworth, Simon J., He, Jing, Heard-Costa, Nancy, Hebbar, Prashantha, Hindy, George, Ho, Yuk-Lam A., Hofer, Edith, Holliday, Elizabeth, Horn, Katrin, Hornsby, Whitney E., Hottenga, Jouke-Jan, Huang, Hongyan, Huang, Jie, Huerta-Chagoya, Alicia, Huffman, Jennifer E., Hung, Yi-Jen, Huo, Shaofeng, Hwang, Mi Yeong, Iha, Hiroyuki, Ikeda, Daisuke D., Isono, Masato, Jackson, Anne U., Jäger, Susanne, Jansen, Iris E., Johansson, Ingegerd, Jonas, Jost B., Jonsson, Anna, Jørgensen, Torben, Kalafati, Ioanna-Panagiota, Kanai, Masahiro, Kanoni, Stavroula, Kårhus, Line L., Kasturiratne, Anuradhani, Katsuya, Tomohiro, Kawaguchi, Takahisa, Kember, Rachel L., Kentistou, Katherine A., Kim, Han-Na, Kim, Young Jin, Kleber, Marcus E., Knol, Maria J., Kurbasic, Azra, Lauzon, Marie, Le, Phuong, Lea, Rodney, Lee, Jong-Young, Leonard, Hampton L., Li, Shengchao A., Li, Xiaohui, Li, Xiaoyin, Liang, Jingjing, Lin, Honghuang, Lin, Shih-Yi, Liu, Jun, Liu, Xueping, Lo, Ken Sin, Long, Jirong, Lores-Motta, Laura, Luan, Jian’an, Lyssenko, Valeriya, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamakou, Vasiliki, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Mattheisen, Manuel, Mavarani, Laven, McDaid, Aaron F., Meidtner, Karina, Melendez, Tori L., Mercader, Josep M., Milaneschi, Yuri, Miller, Jason E., Millwood, Iona Y., Mishra, Pashupati P., Mitchell, Ruth E., Møllehave, Line T., Morgan, Anna, Mucha, Soeren, Munz, Matthias, Nakatochi, Masahiro, Nelson, Christopher P., Nethander, Maria, Nho, Chu Won, Nielsen, Aneta A., Nolte, Ilja M., Nongmaithem, Suraj S., Noordam, Raymond, Ntalla, Ioanna, Nutile, Teresa, Pandit, Anita, Christofidou, Paraskevi, Pärna, Katri, Pauper, Marc, Petersen, Eva R. B., Petersen, Liselotte V., Pitkänen, Niina, Polašek, Ozren, Poveda, Alaitz, Preuss, Michael H., Pyarajan, Saiju, Raffield, Laura M., Rakugi, Hiromi, Ramirez, Julia, Rasheed, Asif, Raven, Dennis, Rayner, Nigel W., Riveros, Carlos, Rohde, Rebecca, Ruggiero, Daniela, Ruotsalainen, Sanni E., Ryan, Kathleen A., Sabater-Lleal, Maria, Saxena, Richa, Scholz, Markus, Sendamarai, Anoop, Shen, Botong, Shi, Jingchunzi, Shin, Jae Hun, Sidore, Carlo, Sitlani, Colleen M., Slieker, Roderick C., Smit, Roelof A. J., Smith, Albert V., Smith, Jennifer A., Smyth, Laura J., Southam, Lorraine, Steinthorsdottir, Valgerdur, Sun, Liang, Takeuchi, Fumihiko, Tallapragada, Divya Sri Priyanka, Taylor, Kent D., Tayo, Bamidele O., Tcheandjieu, Catherine, Terzikhan, Natalie, Tesolin, Paola, Teumer, Alexander, Theusch, Elizabeth, Thompson, Deborah J., Thorleifsson, Gudmar, Timmers, Paul R. H. J., Trompet, Stella, Turman, Constance, Vaccargiu, Simona, van der Laan, Sander W., van der Most, Peter J., van Klinken, Jan B., van Setten, Jessica, Verma, Shefali S., Verweij, Niek, Veturi, Yogasudha, Wang, Carol A., Wang, Chaolong, Wang, Lihua, Wang, Zhe, Warren, Helen R., Bin Wei, Wen, Wickremasinghe, Ananda R., Wielscher, Matthias, Wiggins, Kerri L., Winsvold, Bendik S., Wong, Andrew, Wu, Yang, Wuttke, Matthias, Xia, Rui, Xie, Tian, Yamamoto, Ken, Yang, Jingyun, Yao, Jie, Young, Hannah, Yousri, Noha A., Yu, Lei, Zeng, Lingyao, Zhang, Weihua, Zhang, Xinyuan, Zhao, Jing-Hua, Zhao, Wei, Zhou, Wei, Zimmermann, Martina E., Zoledziewska, Magdalena, Adair, Linda S., Adams, Hieab H. H., Aguilar-Salinas, Carlos A., Al-Mulla, Fahd, Arnett, Donna K., Asselbergs, Folkert W., Åsvold, Bjørn Olav, Attia, John, Banas, Bernhard, Bandinelli, Stefania, Bennett, David A., Bergler, Tobias, Bharadwaj, Dwaipayan, Biino, Ginevra, Bisgaard, Hans, Boerwinkle, Eric, Böger, Carsten A., Bønnelykke, Klaus, Boomsma, Dorret I., Børglum, Anders D., Borja, Judith B., Bouchard, Claude, Bowden, Donald W., Brandslund, Ivan, Brumpton, Ben, Buring, Julie E., Caulfield, Mark J., Chambers, John C., Chandak, Giriraj R., Chanock, Stephen J., Chaturvedi, Nish, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Ching-Yu, Christophersen, Ingrid E., Ciullo, Marina, Cole, John W., Collins, Francis S., Cooper, Richard S., Cruz, Miguel, Cucca, Francesco, Cupples, L. Adrienne, Cutler, Michael J., Damrauer, Scott M., Dantoft, Thomas M., de Borst, Gert J., de Groot, Lisette C. P. G. M., De Jager, Philip L., de Kleijn, Dominique P. V., Janaka de Silva, H., Dedoussis, George V., den Hollander, Anneke I., Du, Shufa, Easton, Douglas F., Elders, Petra J. M., Eliassen, A. Heather, Ellinor, Patrick T., Elmståhl, Sölve, Erdmann, Jeanette, Evans, Michele K., Fatkin, Diane, Feenstra, Bjarke, Feitosa, Mary F., Ferrucci, Luigi, Ford, Ian, Fornage, Myriam, Franke, Andre, Franks, Paul W., Freedman, Barry I., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Goddard, Michael E., Golightly, Yvonne M., Gonzalez-Villalpando, Clicerio, Gordon-Larsen, Penny, Grallert, Harald, Grant, Struan F. A., Grarup, Niels, Griffiths, Lyn, Gudnason, Vilmundur, Haiman, Christopher, Hakonarson, Hakon, Hansen, Torben, Hartman, Catharina A., Hattersley, Andrew T., Hayward, Caroline, Heckbert, Susan R., Heng, Chew-Kiat, Hengstenberg, Christian, Hewitt, Alex W., Hishigaki, Haretsugu, Hoyng, Carel B., Huang, Paul L., Huang, Wei, Hunt, Steven C., Hveem, Kristian, Hyppönen, Elina, Iacono, William G., Ichihara, Sahoko, Ikram, M. Arfan, Isasi, Carmen R., Jackson, Rebecca D., Jarvelin, Marjo-Riitta, Jin, Zi-Bing, Jöckel, Karl-Heinz, Joshi, Peter K., Jousilahti, Pekka, Jukema, J. Wouter, Kähönen, Mika, Kamatani, Yoichiro, Kang, Kui Dong, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kato, Norihiro, Kee, Frank, Kessler, Thorsten, Khera, Amit V., Khor, Chiea Chuen, Kiemeney, Lambertus A. L. M., Kim, Bong-Jo, Kim, Eung Kweon, Kim, Hyung-Lae, Kirchhof, Paulus, Kivimaki, Mika, Koh, Woon-Puay, Koistinen, Heikki A., Kolovou, Genovefa D., Kooner, Jaspal S., Kooperberg, Charles, Köttgen, Anna, Kovacs, Peter, Kraaijeveld, Adriaan, Kraft, Peter, Krauss, Ronald M., Kumari, Meena, Kutalik, Zoltan, Laakso, Markku, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Le Marchand, Loic, Lee, Hyejin, Lee, Nanette R., Lehtimäki, Terho, Li, Huaixing, Li, Liming, Lieb, Wolfgang, Lin, Xu, Lind, Lars, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Loeffler, Markus, London, Barry, Lubitz, Steven A., Lye, Stephen J., Mackey, David A., Mägi, Reedik, Magnusson, Patrik K. E., Marcus, Gregory M., Vidal, Pedro Marques, Martin, Nicholas G., März, Winfried, Matsuda, Fumihiko, McGarrah, Robert W., McGue, Matt, McKnight, Amy Jayne, Medland, Sarah E., Mellström, Dan, Metspalu, Andres, Mitchell, Braxton D., Mitchell, Paul, Mook-Kanamori, Dennis O., Morris, Andrew D., Mucci, Lorelei A., Munroe, Patricia B., Nalls, Mike A., Nazarian, Saman, Nelson, Amanda E., Neville, Matt J., Newton-Cheh, Christopher, Nielsen, Christopher S., Nöthen, Markus M., Ohlsson, Claes, Oldehinkel, Albertine J., Orozco, Lorena, Pahkala, Katja, Pajukanta, Päivi, Palmer, Colin N. A., Parra, Esteban J., Pattaro, Cristian, Pedersen, Oluf, Pennell, Craig E., Penninx, Brenda W. J. H., Perusse, Louis, Peters, Annette, Peyser, Patricia A., Porteous, David J., Posthuma, Danielle, Power, Chris, Pramstaller, Peter P., Province, Michael A., Qi, Qibin, Qu, Jia, Rader, Daniel J., Raitakari, Olli T., Ralhan, Sarju, Rallidis, Loukianos S., Rao, Dabeeru C., Redline, Susan, Reilly, Dermot F., Reiner, Alexander P., Rhee, Sang Youl, Ridker, Paul M., Rienstra, Michiel, Ripatti, Samuli, Ritchie, Marylyn D., Roden, Dan M., Rosendaal, Frits R., Rotter, Jerome I., Rudan, Igor, Rutters, Femke, Sabanayagam, Charumathi, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sanghera, Dharambir K., Sattar, Naveed, Schmidt, Börge, Schmidt, Helena, Schmidt, Reinhold, Schulze, Matthias B., Schunkert, Heribert, Scott, Laura J., Scott, Rodney J., Sever, Peter, Shiroma, Eric J., Shoemaker, M. Benjamin, Shu, Xiao-Ou, Simonsick, Eleanor M., Sims, Mario, Singh, Jai Rup, Singleton, Andrew B., Sinner, Moritz F., Smith, J. Gustav, Snieder, Harold, Spector, Tim D., Stampfer, Meir J., Stark, Klaus J., Strachan, David P., ‘t Hart, Leen M., Tabara, Yasuharu, Tang, Hua, Tardif, Jean-Claude, Thanaraj, Thangavel A., Timpson, Nicholas J., Tönjes, Anke, Tremblay, Angelo, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Maria-Teresa, Uitterlinden, Andre G., van Dam, Rob M., van der Harst, Pim, Van der Velde, Nathalie, van Duijn, Cornelia M., van Schoor, Natasja M., Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wacher-Rodarte, Niels H., Walker, Mark, Wang, Ya Xing, Wareham, Nicholas J., Watanabe, Richard M., Watkins, Hugh, Weir, David R., Werge, Thomas M., Widen, Elisabeth, Wilkens, Lynne R., Willemsen, Gonneke, Willett, Walter C., Wilson, James F., Wong, Tien-Yin, Woo, Jeong-Taek, Wright, Alan F., Wu, Jer-Yuarn, Xu, Huichun, Yajnik, Chittaranjan S., Yokota, Mitsuhiro, Yuan, Jian-Min, Zeggini, Eleftheria, Zemel, Babette S., Zheng, Wei, Zhu, Xiaofeng, Zmuda, Joseph M., Zonderman, Alan B., Zwart, John-Anker, Partida, Gabriel Cuellar, Sun, Yan, Croteau-Chonka, Damien, Vonk, Judith M., Chanock, Stephen, Chasman, Daniel I., Cho, Yoon Shin, Heid, Iris M., McCarthy, Mark I., Ng, Maggie C. Y., O’Donnell, Christopher J., Rivadeneira, Fernando, Thorsteinsdottir, Unnur, Sun, Yan V., Tai, E. Shyong, Boehnke, Michael, Deloukas, Panos, Justice, Anne E., Lindgren, Cecilia M., Loos, Ruth J. F., Mohlke, Karen L., North, Kari E., Stefansson, Kari, Walters, Robin G., Winkler, Thomas W., Young, Kristin L., Loh, Po-Ru, Yang, Jian, Esko, Tõnu, Assimes, Themistocles L., Auton, Adam, Abecasis, Goncalo R., Willer, Cristen J., Locke, Adam E., Berndt, Sonja I., Lettre, Guillaume, Frayling, Timothy M., Okada, Yukinori, Wood, Andrew R., Visscher, Peter M., and Hirschhorn, Joel N.
Abstract: Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel2) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10–20% (14–24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.
Published: 2022
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250. Genetically Determined Reproductive Aging and Coronary Heart Disease : A Bidirectional 2-sample Mendelian Randomization

Author: Dam, Veerle, Onland-Moret, N. Charlotte, Burgess, Stephen, Chirlaque, Maria-Dolores, Peters, Sanne A. E, Schuit, Ewoud, Tikk, Kaja, Weiderpass, Elisabete, Oliver-Williams, Clare, Wood, Angela M, Tjønneland, Anne, Dahm, Christina C, Overvad, Kim, Boutron-Ruault, Marie-Christine, Schulze, Matthias B, Trichopoulou, Antonia, Ferrari, Pietro, Masala, Giovanna, Krogh, Vittorio, Tumino, Rosario, Matullo, Giuseppe, Panico, Salvatore, Boer, Jolanda M. A, Verschuren, W. M. Monique, Waaseth, Marit, PCrossed D sign©rez, Maria JosCrossed D sign© Sánchez, Amiano, Pilar, Imaz, Liher, Moreno-Iribas, Conchi, Melander, Olle, Harlid, Sophia, Nordendahl, Maria, Wennberg, Patrik, Key, Timothy J, Riboli, Elio, Santiuste, Carmen, Kaaks, Rudolf, Katzke, Verena, Langenberg, Claudia, Wareham, Nicholas J, Schunkert, Heribert, Erdmann, Jeanette, Willenborg, Christina, Hengstenberg, Christian, Kleber, Marcus E, Delgado, Graciela, März, Winfried, Kanoni, Stavroula, Dedoussis, George, Deloukas, Panos, Nikpay, Majid, Mcpherson, Ruth, Scholz, Markus, Teren, Andrej, Butterworth, Adam S, Van Der Schouw, Yvonne T, Dam, Veerle, Onland-Moret, N. Charlotte, Burgess, Stephen, Chirlaque, Maria-Dolores, Peters, Sanne A. E, Schuit, Ewoud, Tikk, Kaja, Weiderpass, Elisabete, Oliver-Williams, Clare, Wood, Angela M, Tjønneland, Anne, Dahm, Christina C, Overvad, Kim, Boutron-Ruault, Marie-Christine, Schulze, Matthias B, Trichopoulou, Antonia, Ferrari, Pietro, Masala, Giovanna, Krogh, Vittorio, Tumino, Rosario, Matullo, Giuseppe, Panico, Salvatore, Boer, Jolanda M. A, Verschuren, W. M. Monique, Waaseth, Marit, PCrossed D sign©rez, Maria JosCrossed D sign© Sánchez, Amiano, Pilar, Imaz, Liher, Moreno-Iribas, Conchi, Melander, Olle, Harlid, Sophia, Nordendahl, Maria, Wennberg, Patrik, Key, Timothy J, Riboli, Elio, Santiuste, Carmen, Kaaks, Rudolf, Katzke, Verena, Langenberg, Claudia, Wareham, Nicholas J, Schunkert, Heribert, Erdmann, Jeanette, Willenborg, Christina, Hengstenberg, Christian, Kleber, Marcus E, Delgado, Graciela, März, Winfried, Kanoni, Stavroula, Dedoussis, George, Deloukas, Panos, Nikpay, Majid, Mcpherson, Ruth, Scholz, Markus, Teren, Andrej, Butterworth, Adam S, and Van Der Schouw, Yvonne T
Abstract: Background: Accelerated reproductive aging, in women indicated by early natural menopause, is associated with increased coronary heart disease (CHD) risk in observational studies. Conversely, an adverse CHD risk profile has been suggested to accelerate menopause. Objectives: To study the direction and evidence for causality of the relationship between reproductive aging and (non-)fatal CHD and CHD risk factors in a bidirectional Mendelian randomization (MR) approach, using age at natural menopause (ANM) genetic variants as a measure for genetically determined reproductive aging in women. We also studied the association of these variants with CHD risk (factors) in men. Design: Two-sample MR, using both cohort data as well as summary statistics, with 4 methods: simple and weighted median-based, standard inverse-variance weighted (IVW) regression, and MR-Egger regression. Participants: Data from EPIC-CVD and summary statistics from UK Biobank and publicly available genome-wide association studies were pooled for the different analyses. Main Outcome Measures: CHD, CHD risk factors, and ANM. Results: Across different methods of MR, no association was found between genetically determined reproductive aging and CHD risk in women (relative risk estimateIVW = 0.99; 95% confidence interval (CI), 0.97-1.01), or any of the CHD risk factors. Similarly, no associations were found in men. Neither did the reversed analyses show evidence for an association between CHD (risk factors) and reproductive aging. Conclusion: Genetically determined reproductive aging is not causally associated with CHD risk (factors) in women, nor were the genetic variants associated in men. We found no evidence for a reverse association in a combined sample of women and men.
Published: 2022
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