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1. First numerical analysis of runaway electron generation in tungsten-rich plasmas towards ITER

Author: Walkowiak, J., Hoppe, Mathias, Ekmark, I., Jardin, A., Bielecki, J., Krol, K., Savoye-Peysson, Y., Mazon, D., Dworak, D., Scholz, M., Walkowiak, J., Hoppe, Mathias, Ekmark, I., Jardin, A., Bielecki, J., Krol, K., Savoye-Peysson, Y., Mazon, D., Dworak, D., and Scholz, M.
Abstract: The disruption and runaway electron analysis model code was extended to include tungsten impurities in disruption simulations with the aim of studying the runaway electron (RE) generation. This study investigates RE current sensitivity on the following plasma parameters and modelling choices: tungsten concentration, magnetic perturbation strength, electron modelling, thermal quench time and tokamak geometry-ITER-like or ASDEX-like. Our investigation shows that a tungsten concentration below 10-3 does not cause significant RE generation on its own. However, at higher concentrations it is possible to reach a very high RE current. Out of the two tested models of electrons in plasma: fluid and isotropic (kinetic), results from the fluid model are more conservative, which is useful when it comes to safety analysis. However, these results are overly pessimistic when compared to the isotropic model, which is based on a more reliable approach. Our results also show that the hot-tail RE generation mechanism is dominant as a primary source of RE in tungsten induced disruptions, usually providing orders of magnitude higher RE seed than Dreicer generation. We discuss best practices for simulations with tungsten-rich plasma, present the dependence of the safety limits on modelling choices and highlight the biggest shortcoming of the current simulation techniques. The obtained results pave the way for a wider analysis of tungsten impact on the disruption dynamics, including the mitigation techniques for ITER in the case of strong contamination of the plasma with tungsten., QC 20240223
Published: 2024
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2. Predictive performance of multi-model ensemble forecasts of COVID-19 across European nations

Author: Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., Funk, S., Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., and Funk, S.
Abstract: Methods: We used open-source tools to develop a public European COVID-19 Forecast Hub. We invited groups globally to contribute weekly forecasts for COVID-19 cases and deaths reported by a standardised source for 32 countries over the next 1–4 weeks. Teams submitted forecasts from March 2021 using standardised quantiles of the predictive distribution. Each week we created an ensemble forecast, where each predictive quantile was calculated as the equally-weighted average (initially the mean and then from 26th July the median) of all individual models’ predictive quantiles. We measured the performance of each model using the relative Weighted Interval Score (WIS), comparing models’ forecast accuracy relative to all other models. We retrospectively explored alternative methods for ensemble forecasts, including weighted averages based on models’ past predictive performance. Results: Over 52 weeks, we collected forecasts from 48 unique models. We evaluated 29 models’ forecast scores in comparison to the ensemble model. We found a weekly ensemble had a consistently strong performance across countries over time. Across all horizons and locations, the ensemble performed better on relative WIS than 83% of participating models’ forecasts of incident cases (with a total N=886 predictions from 23 unique models), and 91% of participating models’ forecasts of deaths (N=763 predictions from 20 models). Across a 1–4 week time horizon, ensemble performance declined with longer forecast periods when forecasting cases, but remained stable over 4 weeks for incident death forecasts. In every forecast across 32 countries, the ensemble outperformed most contributing models when forecasting either cases or deaths, frequently outperforming all of its individual component models. Among several choices of ensemble methods we found that the most influential and best choice was to use a median average of models instead of using the mean, regardless of methods of weighting component forecast mod
Published: 2023
Full Text: View/download PDF

3. Predictive performance of multi-model ensemble forecasts of COVID-19 across European nations

Author: Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., Funk, S., Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., and Funk, S.
Abstract: Methods: We used open-source tools to develop a public European COVID-19 Forecast Hub. We invited groups globally to contribute weekly forecasts for COVID-19 cases and deaths reported by a standardised source for 32 countries over the next 1–4 weeks. Teams submitted forecasts from March 2021 using standardised quantiles of the predictive distribution. Each week we created an ensemble forecast, where each predictive quantile was calculated as the equally-weighted average (initially the mean and then from 26th July the median) of all individual models’ predictive quantiles. We measured the performance of each model using the relative Weighted Interval Score (WIS), comparing models’ forecast accuracy relative to all other models. We retrospectively explored alternative methods for ensemble forecasts, including weighted averages based on models’ past predictive performance. Results: Over 52 weeks, we collected forecasts from 48 unique models. We evaluated 29 models’ forecast scores in comparison to the ensemble model. We found a weekly ensemble had a consistently strong performance across countries over time. Across all horizons and locations, the ensemble performed better on relative WIS than 83% of participating models’ forecasts of incident cases (with a total N=886 predictions from 23 unique models), and 91% of participating models’ forecasts of deaths (N=763 predictions from 20 models). Across a 1–4 week time horizon, ensemble performance declined with longer forecast periods when forecasting cases, but remained stable over 4 weeks for incident death forecasts. In every forecast across 32 countries, the ensemble outperformed most contributing models when forecasting either cases or deaths, frequently outperforming all of its individual component models. Among several choices of ensemble methods we found that the most influential and best choice was to use a median average of models instead of using the mean, regardless of methods of weighting component forecast mod
Published: 2023
Full Text: View/download PDF

4. Osteoprotektion unter androgendeprivativer Therapie beim knochenmetastasierten kastrationsresistenten Prostatakarzinom (mCRPC): Ergebnisse einer Umfrage von d-uo

Author: Doehn, C, Klier, J, Johannsen, M, Eichenauer, R, Schönfelder, R, Romagnolo, A, Reese, S, Nitz, C, Jaeger, A, Fieseler, C, Burkert-Scholz, M, Brenneis, H, Binder, M, Beuke, M, Schröder, J, Hempel, E, König, F, Doehn, C, Klier, J, Johannsen, M, Eichenauer, R, Schönfelder, R, Romagnolo, A, Reese, S, Nitz, C, Jaeger, A, Fieseler, C, Burkert-Scholz, M, Brenneis, H, Binder, M, Beuke, M, Schröder, J, Hempel, E, and König, F
Published: 2023

5. Osteoprotektion unter androgendeprivativer Therapie beim nichtmetastasierten Prostatakarzinom (nmHSPC): Ergebnisse einer Umfrage von d-uo

Author: Klier, J, König, F, Schönfelder, R, Eichenauer, R, Johannsen, M, Beuke, M, Binder, M, Brenneis, H, Burkert-Scholz, M, Fieseler, C, Jaeger, A, Nitz, C, Reese, S, Romagnolo, A, Schröder, J, Hempel, E, Doehn, C, Klier, J, König, F, Schönfelder, R, Eichenauer, R, Johannsen, M, Beuke, M, Binder, M, Brenneis, H, Burkert-Scholz, M, Fieseler, C, Jaeger, A, Nitz, C, Reese, S, Romagnolo, A, Schröder, J, Hempel, E, and Doehn, C
Published: 2023

6. Osteoprotektion unter androgendeprivativer Therapie beim knochenmetastasierten kastrationsresistenten Prostatakarzinom (mCRPC): Ergebnisse einer Umfrage von d-uo

Author: Doehn, C, Klier, J, Johannsen, M, Eichenauer, R, Schönfelder, R, Romagnolo, A, Reese, S, Nitz, C, Jaeger, A, Fieseler, C, Burkert-Scholz, M, Brenneis, H, Binder, M, Beuke, M, Schröder, J, Hempel, E, König, F, Doehn, C, Klier, J, Johannsen, M, Eichenauer, R, Schönfelder, R, Romagnolo, A, Reese, S, Nitz, C, Jaeger, A, Fieseler, C, Burkert-Scholz, M, Brenneis, H, Binder, M, Beuke, M, Schröder, J, Hempel, E, and König, F
Published: 2023

7. Osteoprotektion unter androgendeprivativer Therapie beim nichtmetastasierten Prostatakarzinom (nmHSPC): Ergebnisse einer Umfrage von d-uo

Author: Klier, J, König, F, Schönfelder, R, Eichenauer, R, Johannsen, M, Beuke, M, Binder, M, Brenneis, H, Burkert-Scholz, M, Fieseler, C, Jaeger, A, Nitz, C, Reese, S, Romagnolo, A, Schröder, J, Hempel, E, Doehn, C, Klier, J, König, F, Schönfelder, R, Eichenauer, R, Johannsen, M, Beuke, M, Binder, M, Brenneis, H, Burkert-Scholz, M, Fieseler, C, Jaeger, A, Nitz, C, Reese, S, Romagnolo, A, Schröder, J, Hempel, E, and Doehn, C
Published: 2023

8. Predictive performance of multi-model ensemble forecasts of COVID-19 across European nations

Author: Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., Funk, S., Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., and Funk, S.
Abstract: Methods: We used open-source tools to develop a public European COVID-19 Forecast Hub. We invited groups globally to contribute weekly forecasts for COVID-19 cases and deaths reported by a standardised source for 32 countries over the next 1–4 weeks. Teams submitted forecasts from March 2021 using standardised quantiles of the predictive distribution. Each week we created an ensemble forecast, where each predictive quantile was calculated as the equally-weighted average (initially the mean and then from 26th July the median) of all individual models’ predictive quantiles. We measured the performance of each model using the relative Weighted Interval Score (WIS), comparing models’ forecast accuracy relative to all other models. We retrospectively explored alternative methods for ensemble forecasts, including weighted averages based on models’ past predictive performance. Results: Over 52 weeks, we collected forecasts from 48 unique models. We evaluated 29 models’ forecast scores in comparison to the ensemble model. We found a weekly ensemble had a consistently strong performance across countries over time. Across all horizons and locations, the ensemble performed better on relative WIS than 83% of participating models’ forecasts of incident cases (with a total N=886 predictions from 23 unique models), and 91% of participating models’ forecasts of deaths (N=763 predictions from 20 models). Across a 1–4 week time horizon, ensemble performance declined with longer forecast periods when forecasting cases, but remained stable over 4 weeks for incident death forecasts. In every forecast across 32 countries, the ensemble outperformed most contributing models when forecasting either cases or deaths, frequently outperforming all of its individual component models. Among several choices of ensemble methods we found that the most influential and best choice was to use a median average of models instead of using the mean, regardless of methods of weighting component forecast mod
Published: 2023
Full Text: View/download PDF

9. Predictive performance of multi-model ensemble forecasts of COVID-19 across European nations

Author: Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., Funk, S., Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., and Funk, S.
Abstract: Methods: We used open-source tools to develop a public European COVID-19 Forecast Hub. We invited groups globally to contribute weekly forecasts for COVID-19 cases and deaths reported by a standardised source for 32 countries over the next 1–4 weeks. Teams submitted forecasts from March 2021 using standardised quantiles of the predictive distribution. Each week we created an ensemble forecast, where each predictive quantile was calculated as the equally-weighted average (initially the mean and then from 26th July the median) of all individual models’ predictive quantiles. We measured the performance of each model using the relative Weighted Interval Score (WIS), comparing models’ forecast accuracy relative to all other models. We retrospectively explored alternative methods for ensemble forecasts, including weighted averages based on models’ past predictive performance. Results: Over 52 weeks, we collected forecasts from 48 unique models. We evaluated 29 models’ forecast scores in comparison to the ensemble model. We found a weekly ensemble had a consistently strong performance across countries over time. Across all horizons and locations, the ensemble performed better on relative WIS than 83% of participating models’ forecasts of incident cases (with a total N=886 predictions from 23 unique models), and 91% of participating models’ forecasts of deaths (N=763 predictions from 20 models). Across a 1–4 week time horizon, ensemble performance declined with longer forecast periods when forecasting cases, but remained stable over 4 weeks for incident death forecasts. In every forecast across 32 countries, the ensemble outperformed most contributing models when forecasting either cases or deaths, frequently outperforming all of its individual component models. Among several choices of ensemble methods we found that the most influential and best choice was to use a median average of models instead of using the mean, regardless of methods of weighting component forecast mod
Published: 2023
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10. Vorwort

Author: Nissen, S., Scholz, M., Scholz, Mathias, Nissen, S., Scholz, M., and Scholz, Mathias
Abstract: no abstract
Published: 2023

11. Predictive performance of multi-model ensemble forecasts of COVID-19 across European nations

Author: Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., Funk, S., Sherratt, K., Gruson, H., Grah, R., Johnson, H., Niehus, R., Prasse, B., Sandmann, F., Deuschel, J., Wolffram, D., Abbott, S., Ullrich, A., Gibson, G., Ray, E. L., Reich, N. G., Sheldon, D., Wang, Y., Wattanachit, N., Wang, L., Trnka, J., Obozinski, G., Sun, T., Thanou, D., Pottier, L., Krymova, E., Meinke, J. H., Barbarossa, M. V., Leithäuser, N., Mohring, J., Schneider, J., Wlazlo, J., Fuhrmann, J., Lange, B., Rodiah, I., Baccam, P., Gurung, H., Stage, S., Suchoski, B., Budzinski, J., Walraven, R., Villanueva, I., Tucek, V., Smíd, M., Zajícek, M., Pérez Alvarez, C., Reina, B., Bosse, N. I., Meakin, S., Castro, L., Fairchild, G., Michaud, I., Osthus, D., Alaimo Di Loro, P., Maruotti, A., Eclerová, V., Kraus, A., Kraus, D., Pribylova, L., Dimitris, B., Li, M. L., Saksham, S., Dehning, J., Mohr, S., Priesemann, V., Redlarski, G., Bejar, B., Ardenghi, G., Parolini, N., Ziarelli, G., Bock, Wolfgang, Heyder, S., Hotz, T., E. Singh, D., Guzman-Merino, M., Aznarte, J. L., Moriña, D., Alonso, S., Alvarez, E., López, D., Prats, C., Burgard, J. P., Rodloff, A., Zimmermann, T., Kuhlmann, A., Zibert, J., Pennoni, F., Divino, F., Català, M., Lovison, G., Giudici, P., Tarantino, B., Bartolucci, F., Jona Lasinio, G., Mingione, M., Farcomeni, A., Srivastava, A., Montero-Manso, P., Adiga, A., Hurt, B., Lewis, B., Marathe, M., Porebski, P., Venkatramanan, S., Bartczuk, R., Dreger, F., Gambin, A., Gogolewski, K., Gruziel-S?omka, M., Krupa, B., Moszynski, A., Niedzielewski, K., Nowosielski, J., Radwan, M., Rakowski, F., Semeniuk, M., Szczurek, E., Zieli?ski, J., Kisielewski, J., Pabjan, B., Kheifetz, Y., Kirsten, H., Scholz, M., Biecek, P., Bodych, M., Filinski, M., Idzikowski, R., Krueger, T., Ozanski, T., Bracher, J., and Funk, S.
Abstract: Methods: We used open-source tools to develop a public European COVID-19 Forecast Hub. We invited groups globally to contribute weekly forecasts for COVID-19 cases and deaths reported by a standardised source for 32 countries over the next 1–4 weeks. Teams submitted forecasts from March 2021 using standardised quantiles of the predictive distribution. Each week we created an ensemble forecast, where each predictive quantile was calculated as the equally-weighted average (initially the mean and then from 26th July the median) of all individual models’ predictive quantiles. We measured the performance of each model using the relative Weighted Interval Score (WIS), comparing models’ forecast accuracy relative to all other models. We retrospectively explored alternative methods for ensemble forecasts, including weighted averages based on models’ past predictive performance. Results: Over 52 weeks, we collected forecasts from 48 unique models. We evaluated 29 models’ forecast scores in comparison to the ensemble model. We found a weekly ensemble had a consistently strong performance across countries over time. Across all horizons and locations, the ensemble performed better on relative WIS than 83% of participating models’ forecasts of incident cases (with a total N=886 predictions from 23 unique models), and 91% of participating models’ forecasts of deaths (N=763 predictions from 20 models). Across a 1–4 week time horizon, ensemble performance declined with longer forecast periods when forecasting cases, but remained stable over 4 weeks for incident death forecasts. In every forecast across 32 countries, the ensemble outperformed most contributing models when forecasting either cases or deaths, frequently outperforming all of its individual component models. Among several choices of ensemble methods we found that the most influential and best choice was to use a median average of models instead of using the mean, regardless of methods of weighting component forecast mod
Published: 2023
Full Text: View/download PDF

12. Predictive performance of multi-model ensemble forecasts of COVID-19 across European nations

Author: Sherratt, K, Gruson, H, Grah, R, Johnson, H, Niehus, R, Prasse, B, Sandmann, F, Deuschel, J, Wolffram, D, Abbott, S, Ullrich, A, Gibson, G, L Ray, E, G Reich, N, Sheldon, D, Wang, Y, Wattanachit, N, Wang, L, Trnka, J, Obozinski, G, Sun, T, Thanou, D, Pottier, L, Krymova, E, H Meinke, J, Vittoria Barbarossa, M, Leithäuser, N, Mohring, J, Schneider, J, Włazło, J, Fuhrmann, J, Lange, B, Rodiah, I, Baccam, P, Gurung, H, Stage, S, Suchoski, B, Budzinski, J, Walraven, R, Villanueva, I, Tucek, V, Smid, M, Zajíček, M, Pérez Álvarez, C, Reina, B, I Bosse, N, R Meakin, S, Castro, L, Fairchild, G, Michaud, I, Osthus, D, Alaimo Di Loro, P, Maruotti, A, Eclerová, V, Kraus, A, Kraus, D, Pribylova, L, Dimitris, B, Lingzhi Li, M, Saksham, S, Dehning, J, Mohr, S, Priesemann, V, Redlarski, G, Bejar, B, Ardenghi, G, Parolini, N, Ziarelli, G, Bock, W, Heyder, S, Hotz, T, E Singh, D, Guzman-Merino, M, L Aznarte, J, Moriña, D, Alonso, S, Álvarez, E, López, D, Prats, C, Pablo Burgard, J, Rodloff, A, Zimmermann, T, Kuhlmann, A, Zibert, J, Pennoni, F, Divino, F, Català, M, Lovison, G, Giudici, P, Tarantino, B, Bartolucci, F, Jona Lasinio, G, Mingione, M, Farcomeni, A, Srivastava, A, Montero-Manso, P, Adiga, A, Hurt, B, Lewis, B, Marathe, M, Porebski, P, Venkatramanan, S, P Bartczuk, R, Dreger, F, Gambin, A, Gogolewski, K, Gruziel-Słomka, M, Krupa, B, Moszyński, A, Niedzielewski, K, Nowosielski, J, Radwan, M, Rakowski, F, Semeniuk, M, Szczurek, E, Zieliński, J, Kisielewski, J, Pabjan, B, Kirsten, H, Kheifetz, Y, Scholz, M, Biecek, P, Bodych, M, Filinski, M, Idzikowski, R, Krueger, T, Ozanski, T, Bracher, J, Funk, S, Katharine Sherratt, Hugo Gruson, Rok Grah, Helen Johnson, Rene Niehus, Bastian Prasse, Frank Sandmann, Jannik Deuschel, Daniel Wolffram, Sam Abbott, Alexander Ullrich, Graham Gibson, Evan L Ray, Nicholas G Reich, Daniel Sheldon, Yijin Wang, Nutcha Wattanachit, Lijing Wang, Jan Trnka, Guillaume Obozinski, Tao Sun, Dorina Thanou, Loic Pottier, Ekaterina Krymova, Jan H Meinke, Maria Vittoria Barbarossa, Neele Leithäuser, Jan Mohring, Johanna Schneider, Jaroslaw Włazło, Jan Fuhrmann, Berit Lange, Isti Rodiah, Prasith Baccam, Heidi Gurung, Steven Stage, Bradley Suchoski, Jozef Budzinski, Robert Walraven, Inmaculada Villanueva, Vit Tucek, Martin Smid, Milan Zajíček, Cesar Pérez Álvarez, Borja Reina, Nikos I Bosse, Sophie R Meakin, Lauren Castro, Geoffrey Fairchild, Isaac Michaud, Dave Osthus, Pierfrancesco Alaimo Di Loro, Antonello Maruotti, Veronika Eclerová, Andrea Kraus, David Kraus, Lenka Pribylova, Bertsimas Dimitris, Michael Lingzhi Li, Soni Saksham, Jonas Dehning, Sebastian Mohr, Viola Priesemann, Grzegorz Redlarski, Benjamin Bejar, Giovanni Ardenghi, Nicola Parolini, Giovanni Ziarelli, Wolfgang Bock, Stefan Heyder, Thomas Hotz, David E Singh, Miguel Guzman-Merino, Jose L Aznarte, David Moriña, Sergio Alonso, Enric Álvarez, Daniel López, Clara Prats, Jan Pablo Burgard, Arne Rodloff, Tom Zimmermann, Alexander Kuhlmann, Janez Zibert, Fulvia Pennoni, Fabio Divino, Marti Català, Gianfranco Lovison, Paolo Giudici, Barbara Tarantino, Francesco Bartolucci, Giovanna Jona Lasinio, Marco Mingione, Alessio Farcomeni, Ajitesh Srivastava, Pablo Montero-Manso, Aniruddha Adiga, Benjamin Hurt, Bryan Lewis, Madhav Marathe, Przemyslaw Porebski, Srinivasan Venkatramanan, Rafal P Bartczuk, Filip Dreger, Anna Gambin, Krzysztof Gogolewski, Magdalena Gruziel-Słomka, Bartosz Krupa, Antoni Moszyński, Karol Niedzielewski, Jedrzej Nowosielski, Maciej Radwan, Franciszek Rakowski, Marcin Semeniuk, Ewa Szczurek, Jakub Zieliński, Jan Kisielewski, Barbara Pabjan, Holger Kirsten, Yuri Kheifetz, Markus Scholz, Przemyslaw Biecek, Marcin Bodych, Maciej Filinski, Radoslaw Idzikowski, Tyll Krueger, Tomasz Ozanski, Johannes Bracher, Sebastian Funk, Sherratt, K, Gruson, H, Grah, R, Johnson, H, Niehus, R, Prasse, B, Sandmann, F, Deuschel, J, Wolffram, D, Abbott, S, Ullrich, A, Gibson, G, L Ray, E, G Reich, N, Sheldon, D, Wang, Y, Wattanachit, N, Wang, L, Trnka, J, Obozinski, G, Sun, T, Thanou, D, Pottier, L, Krymova, E, H Meinke, J, Vittoria Barbarossa, M, Leithäuser, N, Mohring, J, Schneider, J, Włazło, J, Fuhrmann, J, Lange, B, Rodiah, I, Baccam, P, Gurung, H, Stage, S, Suchoski, B, Budzinski, J, Walraven, R, Villanueva, I, Tucek, V, Smid, M, Zajíček, M, Pérez Álvarez, C, Reina, B, I Bosse, N, R Meakin, S, Castro, L, Fairchild, G, Michaud, I, Osthus, D, Alaimo Di Loro, P, Maruotti, A, Eclerová, V, Kraus, A, Kraus, D, Pribylova, L, Dimitris, B, Lingzhi Li, M, Saksham, S, Dehning, J, Mohr, S, Priesemann, V, Redlarski, G, Bejar, B, Ardenghi, G, Parolini, N, Ziarelli, G, Bock, W, Heyder, S, Hotz, T, E Singh, D, Guzman-Merino, M, L Aznarte, J, Moriña, D, Alonso, S, Álvarez, E, López, D, Prats, C, Pablo Burgard, J, Rodloff, A, Zimmermann, T, Kuhlmann, A, Zibert, J, Pennoni, F, Divino, F, Català, M, Lovison, G, Giudici, P, Tarantino, B, Bartolucci, F, Jona Lasinio, G, Mingione, M, Farcomeni, A, Srivastava, A, Montero-Manso, P, Adiga, A, Hurt, B, Lewis, B, Marathe, M, Porebski, P, Venkatramanan, S, P Bartczuk, R, Dreger, F, Gambin, A, Gogolewski, K, Gruziel-Słomka, M, Krupa, B, Moszyński, A, Niedzielewski, K, Nowosielski, J, Radwan, M, Rakowski, F, Semeniuk, M, Szczurek, E, Zieliński, J, Kisielewski, J, Pabjan, B, Kirsten, H, Kheifetz, Y, Scholz, M, Biecek, P, Bodych, M, Filinski, M, Idzikowski, R, Krueger, T, Ozanski, T, Bracher, J, Funk, S, Katharine Sherratt, Hugo Gruson, Rok Grah, Helen Johnson, Rene Niehus, Bastian Prasse, Frank Sandmann, Jannik Deuschel, Daniel Wolffram, Sam Abbott, Alexander Ullrich, Graham Gibson, Evan L Ray, Nicholas G Reich, Daniel Sheldon, Yijin Wang, Nutcha Wattanachit, Lijing Wang, Jan Trnka, Guillaume Obozinski, Tao Sun, Dorina Thanou, Loic Pottier, Ekaterina Krymova, Jan H Meinke, Maria Vittoria Barbarossa, Neele Leithäuser, Jan Mohring, Johanna Schneider, Jaroslaw Włazło, Jan Fuhrmann, Berit Lange, Isti Rodiah, Prasith Baccam, Heidi Gurung, Steven Stage, Bradley Suchoski, Jozef Budzinski, Robert Walraven, Inmaculada Villanueva, Vit Tucek, Martin Smid, Milan Zajíček, Cesar Pérez Álvarez, Borja Reina, Nikos I Bosse, Sophie R Meakin, Lauren Castro, Geoffrey Fairchild, Isaac Michaud, Dave Osthus, Pierfrancesco Alaimo Di Loro, Antonello Maruotti, Veronika Eclerová, Andrea Kraus, David Kraus, Lenka Pribylova, Bertsimas Dimitris, Michael Lingzhi Li, Soni Saksham, Jonas Dehning, Sebastian Mohr, Viola Priesemann, Grzegorz Redlarski, Benjamin Bejar, Giovanni Ardenghi, Nicola Parolini, Giovanni Ziarelli, Wolfgang Bock, Stefan Heyder, Thomas Hotz, David E Singh, Miguel Guzman-Merino, Jose L Aznarte, David Moriña, Sergio Alonso, Enric Álvarez, Daniel López, Clara Prats, Jan Pablo Burgard, Arne Rodloff, Tom Zimmermann, Alexander Kuhlmann, Janez Zibert, Fulvia Pennoni, Fabio Divino, Marti Català, Gianfranco Lovison, Paolo Giudici, Barbara Tarantino, Francesco Bartolucci, Giovanna Jona Lasinio, Marco Mingione, Alessio Farcomeni, Ajitesh Srivastava, Pablo Montero-Manso, Aniruddha Adiga, Benjamin Hurt, Bryan Lewis, Madhav Marathe, Przemyslaw Porebski, Srinivasan Venkatramanan, Rafal P Bartczuk, Filip Dreger, Anna Gambin, Krzysztof Gogolewski, Magdalena Gruziel-Słomka, Bartosz Krupa, Antoni Moszyński, Karol Niedzielewski, Jedrzej Nowosielski, Maciej Radwan, Franciszek Rakowski, Marcin Semeniuk, Ewa Szczurek, Jakub Zieliński, Jan Kisielewski, Barbara Pabjan, Holger Kirsten, Yuri Kheifetz, Markus Scholz, Przemyslaw Biecek, Marcin Bodych, Maciej Filinski, Radoslaw Idzikowski, Tyll Krueger, Tomasz Ozanski, Johannes Bracher, and Sebastian Funk
Abstract: Background: Short-term forecasts of infectious disease contribute to situational awareness and capacity planning. Based on best practice in other fields and recent insights in infectious disease epidemiology, one can maximise forecasts’ predictive performance by combining independent models into an ensemble. Here we report the performance of ensemble predictions of COVID-19 cases and deaths across Europe from March 2021 to March 2022. Methods: We created the European COVID-19 Forecast Hub, an online open-access platform where modellers upload weekly forecasts for 32 countries with results publicly visualised and evaluated. We created a weekly ensemble forecast from the equally-weighted average across individual models’ predictive quantiles. We measured forecast accuracy using a baseline and relative Weighted Interval Score (rWIS). We retrospectively explored ensemble methods, including weighting by past performance. Results: We collected weekly forecasts from 48 models, of which we evaluated 29 models alongside the ensemble model. The ensemble had a consistently strong performance across countries over time, performing better on rWIS than 91% of forecasts for deaths (N=763 predictions from 20 models), and 83% forecasts for cases (N=886 predictions from 23 models). Performance remained stable over a 4-week horizon for death forecasts but declined with longer horizons for cases. Among ensemble methods, the most influential choice came from using a median average instead of the mean, regardless of weighting component models. Conclusions: Our results support combining independent models into an ensemble forecast to improve epidemiological predictions, and suggest that median averages yield better performance than methods based on means. We highlight that forecast consumers should place more weight on incident death forecasts than case forecasts at horizons greater than two weeks. Funding: European Commission, Ministerio de Ciencia, Innovación y Universidades, FEDER; Ag
Published: 2023

13. Epidemiebedingter Ressourcenbedarf von Krankenhäusern - Modellierung von Inzidenz, Bettenbelegung und Personalplanung (das PROGNOSIS-Projekt)

Author: Bierbaum, V, Streissnig, C, Schuppert, A, Scholz, M, Schmitt, J, Polotzek, K, Bierbaum, V, Streissnig, C, Schuppert, A, Scholz, M, Schmitt, J, and Polotzek, K
Published: 2022

14. Change in operative management leads to an improvement of visually evoked potentials (VEPs) in surgery of brain tumours involving the visual pathway

Author: Suchorska, B, Salem, A, Heinkel, D, Blaeser, K, Scholz, M, Suchorska, B, Salem, A, Heinkel, D, Blaeser, K, and Scholz, M
Published: 2022

15. 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, T., Tragante, V., Maitusong, B., Gigante, B., Cresci, S., Laguzzi, F., Vikström, M., Richards, M., Pilbrow, A., Cameron, V., Foco, L., Doughty, R.N., Kuukasjärvi, P., Allayee, H., Hartiala, J.A., Tang, W.H., Lyytikäinen, L.P., Nikus, K., Laurikka, J.O., Srinivasan, S., Mordi, I.R., Trompet, S., Kraaijeveld, A., Setten, J. van, Gijsberts, C.M., Maitland-van der Zee, A.H., Saely, C.H., Gong, Y., Johnson, J.A., Cooper-DeHoff, R.M., Pepine, C.J., Casu, G., Leiherer, A., Drexel, H., Horne, B.D., Laan, S.W. van der, Marziliano, N., Hazen, S.L., Sinisalo, J., Kähönen, M., Lehtimäki, T., Lang, C.C., Burkhardt, R., Scholz, M., Jukema, J.W., Eriksson, N., Åkerblom, A., James, S., Held, C., Hagström, E., Spertus, J.A., Algra, A., Faire, U. de, Åkesson, A., Asselbergs, F.W., Patel, R.S., Leander, K., Schillemans, T., Tragante, V., Maitusong, B., Gigante, B., Cresci, S., Laguzzi, F., Vikström, M., Richards, M., Pilbrow, A., Cameron, V., Foco, L., Doughty, R.N., Kuukasjärvi, P., Allayee, H., Hartiala, J.A., Tang, W.H., Lyytikäinen, L.P., Nikus, K., Laurikka, J.O., Srinivasan, S., Mordi, I.R., Trompet, S., Kraaijeveld, A., Setten, J. van, Gijsberts, C.M., Maitland-van der Zee, A.H., Saely, C.H., Gong, Y., Johnson, J.A., Cooper-DeHoff, R.M., Pepine, C.J., Casu, G., Leiherer, A., Drexel, H., Horne, B.D., Laan, S.W. van der, Marziliano, N., Hazen, S.L., Sinisalo, J., Kähönen, M., Lehtimäki, T., Lang, C.C., Burkhardt, R., Scholz, M., Jukema, J.W., Eriksson, N., Åkerblom, A., James, S., Held, C., Hagström, E., Spertus, J.A., Algra, A., Faire, U. de, Åkesson, A., Asselbergs, F.W., Patel, R.S., and Leander, K.
Abstract: Contains fulltext : 283506.pdf (Publisher’s version ) (Open Access), 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

16. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning

Author: Lahti, J., Tuominen, S., Yang, Q., Pergola, G., Ahmad, S., Amin, N., Armstrong, N.J., Beiser, A., Bey, K., Bis, J.C., Boerwinkle, E., Bressler, J., Campbell, A., Campbell, H., Chen, Q., Corley, J., Cox, S.R., Davies, G., De Jager, P.L., Derks, E.M., Faul, J.D., Fitzpatrick, A.L., Fohner, A.E., Ford, I., Fornage, M., Gerring, Z., Grabe, H.J., Grodstein, F., Gudnason, V., Simonsick, E., Holliday, E.G., Joshi, P.K., Kajantie, E., Kaprio, J., Karell, P., Kleineidam, L., Knol, M.J., Kochan, N.A., Kwok, J.B., Leber, M., Lam, M., Lee, T., Li, S., Loukola, A., Luck, T., Marioni, R.E., Mather, K.A., Medland, S., Mirza, S.S., Nalls, M.A., Nho, K., O’Donnell, A., Oldmeadow, C., Painter, J., Pattie, A., Reppermund, S., Risacher, S.L., Rose, R.J., Sadashivaiah, V., Scholz, M., Satizabal, C.L., Schofield, P.W., Schraut, K.E., Scott, R.J., Simino, J., Smith, A.V., Smith, J.A., Stott, D.J., Surakka, I., Teumer, A., Thalamuthu, A., Trompet, S., Turner, S.T., van der Lee, S.J., Villringer, A., Völker, U., Wilson, R.S., Wittfeld, K., Vuoksimaa, E., Xia, R., Yaffe, K., Yu, L., Zare, H., Zhao, W., Ames, D., Attia, J., Bennett, D.A., Brodaty, H., Chasman, D.I., Goldman, A.L., Hayward, C., Ikram, M.A., Jukema, J.W., Kardia, S.L.R., Lencz, T., Loeffler, M., Mattay, V.S., Palotie, A., Psaty, B.M., Ramirez, A., Ridker, P.M., Riedel-Heller, S.G., Sachdev, P.S., Saykin, A.J., Scherer, M., Schofield, P.R., Sidney, S., Starr, J.M., Trollor, J., Ulrich, W., Wagner, M., Weir, D.R., Wilson, J.F., Wright, M.J., Weinberger, D.R., Debette, S., Eriksson, J.G., Mosley, T.H., Launer, L.J., van Duijn, C.M., Deary, I.J., Seshadri, S., Räikkönen, K., Lahti, J., Tuominen, S., Yang, Q., Pergola, G., Ahmad, S., Amin, N., Armstrong, N.J., Beiser, A., Bey, K., Bis, J.C., Boerwinkle, E., Bressler, J., Campbell, A., Campbell, H., Chen, Q., Corley, J., Cox, S.R., Davies, G., De Jager, P.L., Derks, E.M., Faul, J.D., Fitzpatrick, A.L., Fohner, A.E., Ford, I., Fornage, M., Gerring, Z., Grabe, H.J., Grodstein, F., Gudnason, V., Simonsick, E., Holliday, E.G., Joshi, P.K., Kajantie, E., Kaprio, J., Karell, P., Kleineidam, L., Knol, M.J., Kochan, N.A., Kwok, J.B., Leber, M., Lam, M., Lee, T., Li, S., Loukola, A., Luck, T., Marioni, R.E., Mather, K.A., Medland, S., Mirza, S.S., Nalls, M.A., Nho, K., O’Donnell, A., Oldmeadow, C., Painter, J., Pattie, A., Reppermund, S., Risacher, S.L., Rose, R.J., Sadashivaiah, V., Scholz, M., Satizabal, C.L., Schofield, P.W., Schraut, K.E., Scott, R.J., Simino, J., Smith, A.V., Smith, J.A., Stott, D.J., Surakka, I., Teumer, A., Thalamuthu, A., Trompet, S., Turner, S.T., van der Lee, S.J., Villringer, A., Völker, U., Wilson, R.S., Wittfeld, K., Vuoksimaa, E., Xia, R., Yaffe, K., Yu, L., Zare, H., Zhao, W., Ames, D., Attia, J., Bennett, D.A., Brodaty, H., Chasman, D.I., Goldman, A.L., Hayward, C., Ikram, M.A., Jukema, J.W., Kardia, S.L.R., Lencz, T., Loeffler, M., Mattay, V.S., Palotie, A., Psaty, B.M., Ramirez, A., Ridker, P.M., Riedel-Heller, S.G., Sachdev, P.S., Saykin, A.J., Scherer, M., Schofield, P.R., Sidney, S., Starr, J.M., Trollor, J., Ulrich, W., Wagner, M., Weir, D.R., Wilson, J.F., Wright, M.J., Weinberger, D.R., Debette, S., Eriksson, J.G., Mosley, T.H., Launer, L.J., van Duijn, C.M., Deary, I.J., Seshadri, S., and Räikkönen, K.
Abstract: Understanding the genomic basis of memory processes may help in combating neurodegenerative disorders. Hence, we examined the associations of common genetic variants with verbal short-term memory and verbal learning in adults without dementia or stroke (N = 53,637). We identified novel loci in the intronic region of CDH18, and at 13q21 and 3p21.1, as well as an expected signal in the APOE/APOC1/TOMM40 region. These results replicated in an independent sample. Functional and bioinformatic analyses supported many of these loci and further implicated POC1. We showed that polygenic score for verbal learning associated with brain activation in right parieto-occipital region during working memory task. Finally, we showed genetic correlations of these memory traits with several neurocognitive and health outcomes. Our findings suggest a role of several genomic loci in verbal memory processes.
Published: 2022

17. 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, T., Tragante, V., Maitusong, B., Gigante, B., Cresci, S., Laguzzi, F., Vikström, M., Richards, M., Pilbrow, A., Cameron, V., Foco, L., Doughty, R.N., Kuukasjärvi, P., Allayee, H., Hartiala, J.A., Tang, W.H., Lyytikäinen, L.P., Nikus, K., Laurikka, J.O., Srinivasan, S., Mordi, I.R., Trompet, S., Kraaijeveld, A., Setten, J. van, Gijsberts, C.M., Maitland-van der Zee, A.H., Saely, C.H., Gong, Y., Johnson, J.A., Cooper-DeHoff, R.M., Pepine, C.J., Casu, G., Leiherer, A., Drexel, H., Horne, B.D., Laan, S.W. van der, Marziliano, N., Hazen, S.L., Sinisalo, J., Kähönen, M., Lehtimäki, T., Lang, C.C., Burkhardt, R., Scholz, M., Jukema, J.W., Eriksson, N., Åkerblom, A., James, S., Held, C., Hagström, E., Spertus, J.A., Algra, A., Faire, U. de, Åkesson, A., Asselbergs, F.W., Patel, R.S., Leander, K., Schillemans, T., Tragante, V., Maitusong, B., Gigante, B., Cresci, S., Laguzzi, F., Vikström, M., Richards, M., Pilbrow, A., Cameron, V., Foco, L., Doughty, R.N., Kuukasjärvi, P., Allayee, H., Hartiala, J.A., Tang, W.H., Lyytikäinen, L.P., Nikus, K., Laurikka, J.O., Srinivasan, S., Mordi, I.R., Trompet, S., Kraaijeveld, A., Setten, J. van, Gijsberts, C.M., Maitland-van der Zee, A.H., Saely, C.H., Gong, Y., Johnson, J.A., Cooper-DeHoff, R.M., Pepine, C.J., Casu, G., Leiherer, A., Drexel, H., Horne, B.D., Laan, S.W. van der, Marziliano, N., Hazen, S.L., Sinisalo, J., Kähönen, M., Lehtimäki, T., Lang, C.C., Burkhardt, R., Scholz, M., Jukema, J.W., Eriksson, N., Åkerblom, A., James, S., Held, C., Hagström, E., Spertus, J.A., Algra, A., Faire, U. de, Åkesson, A., Asselbergs, F.W., Patel, R.S., and Leander, K.
Abstract: Contains fulltext : 283506.pdf (Publisher’s version ) (Open Access), 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

18. Epidemiebedingter Ressourcenbedarf von Krankenhäusern - Modellierung von Inzidenz, Bettenbelegung und Personalplanung (das PROGNOSIS-Projekt)

Author: Bierbaum, V, Streissnig, C, Schuppert, A, Scholz, M, Schmitt, J, Polotzek, K, Bierbaum, V, Streissnig, C, Schuppert, A, Scholz, M, Schmitt, J, and Polotzek, K
Published: 2022

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

Author: Yengo, L, Vedantam, S, Marouli, E, Sidorenko, J, Bartell, E, Sakaue, S, Graff, M, Eliasen, AU, Jiang, Y, Raghavan, S, Miao, J, Arias, JD, Graham, SE, Mukamel, RE, Spracklen, CN, Yin, X, Chen, S-H, Ferreira, T, Highland, HH, Ji, Y, Karaderi, T, Lin, K, Lull, K, Malden, DE, Medina-Gomez, C, Machado, M, Moore, A, Rueger, S, Sim, X, Vrieze, S, Ahluwalia, TS, Akiyama, M, Allison, MA, Alvarez, M, Andersen, MK, Ani, A, Appadurai, V, Arbeeva, L, Bhaskar, S, Bielak, LF, Bollepalli, S, Bonnycastle, LL, Bork-Jensen, J, Bradfield, JP, Bradford, Y, Braund, PS, Brody, JA, Burgdorf, KS, Cade, BE, Cai, H, Cai, Q, Campbell, A, Canadas-Garre, M, Catamo, E, Chai, J-F, Chai, X, Chang, L-C, Chang, Y-C, Chen, C-H, Chesi, A, Choi, SH, Chung, R-H, Cocca, M, Concas, MP, Couture, C, Cuellar-Partida, G, Danning, R, Daw, EW, Degenhard, F, Delgado, GE, Delitala, A, Demirkan, A, Deng, X, Devineni, P, Dietl, A, Dimitriou, M, Dimitrov, L, Dorajoo, R, Ekici, AB, Engmann, JE, Fairhurst-Hunter, Z, Farmaki, A-E, Faul, JD, Fernandez-Lopez, J-C, Forer, L, Francescatto, M, Freitag-Wolf, S, Fuchsberger, C, Galesloot, TE, Gao, Y, Gao, Z, Geller, F, Giannakopoulou, O, Giulianini, F, Gjesing, AP, Goel, A, Gordon, SD, Gorski, M, Grove, J, Guo, X, Gustafsson, S, Haessler, J, Hansen, TF, Havulinna, AS, Haworth, SJ, He, J, Heard-Costa, N, Hebbar, P, Hindy, G, Ho, Y-LA, Hofer, E, Holliday, E, Horn, K, Hornsby, WE, Hottenga, J-J, Huang, H, Huang, J, Huerta-Chagoya, A, Huffman, JE, Hung, Y-J, Huo, S, Hwang, MY, Iha, H, Ikeda, DD, Isono, M, Jackson, AU, Jager, S, Jansen, IE, Johansson, I, Jonas, JB, Jonsson, A, Jorgensen, T, Kalafati, I-P, Kanai, M, Kanoni, S, Karhus, LL, Kasturiratne, A, Katsuya, T, Kawaguchi, T, Kember, RL, Kentistou, KA, Kim, H-N, Kim, YJ, Kleber, ME, Knol, MJ, Kurbasic, A, Lauzon, M, Le, P, Lea, R, Lee, J-Y, Leonard, HL, Li, SA, Li, X, Liang, J, Lin, H, Lin, S-Y, Liu, J, Liu, X, Lo, KS, Long, J, Lores-Motta, L, Luan, J, Lyssenko, V, Lyytikainen, L-P, Mahajan, A, Mamakou, V, Mangino, M, Manichaikul, A, Marten, J, Mattheisen, M, Mavarani, L, McDaid, AF, Meidtner, K, Melendez, TL, Mercader, JM, Milaneschi, Y, Miller, JE, Millwood, IY, Mishra, PP, Mitchell, RE, Mollehave, LT, Morgan, A, Mucha, S, Munz, M, Nakatochi, M, Nelson, CP, Nethander, M, Nho, CW, Nielsen, AA, Nolte, IM, Nongmaithem, SS, Noordam, R, Ntalla, I, Nutile, T, Pandit, A, Christofidou, P, Parna, K, Pauper, M, Petersen, ERB, Petersen, L, Pitkanen, N, Polasek, O, Poveda, A, Preuss, MH, Pyarajan, S, Raffield, LM, Rakugi, H, Ramirez, J, Rasheed, A, Raven, D, Rayner, NW, Riveros, C, Rohde, R, Ruggiero, D, Ruotsalainen, SE, Ryan, KA, Sabater-Lleal, M, Saxena, R, Scholz, M, Sendamarai, A, Shen, B, Shi, J, Shin, JH, Sidore, C, Sitlani, CM, Slieker, RKC, Smit, RAJ, Smith, A, Smith, JA, Smyth, LJ, Southam, LE, Steinthorsdottir, V, Sun, L, Takeuchi, F, Tallapragada, D, Taylor, KD, Tayo, BO, Tcheandjieu, C, Terzikhan, N, Tesolin, P, Teumer, A, Theusch, E, Thompson, DJ, Thorleifsson, G, Timmers, PRHJ, Trompet, S, Turman, C, Vaccargiu, S, van der Laan, SW, van der Most, PJ, van Klinken, JB, van Setten, J, Verma, SS, Verweij, N, Veturi, Y, Wang, CA, Wang, C, Wang, L, Wang, Z, Warren, HR, Wei, WB, Wickremasinghe, AR, Wielscher, M, Wiggins, KL, Winsvold, BS, Wong, A, Wu, Y, Wuttke, M, Xia, R, Xie, T, Yamamoto, K, Yang, J, Yao, J, Young, H, Yousri, NA, Yu, L, Zeng, L, Zhang, W, Zhang, X, Zhao, J-H, Zhao, W, Zhou, W, Zimmermann, ME, Zoledziewska, M, Adair, LS, Adams, HHH, Aguilar-Salinas, CA, Al-Mulla, F, Arnett, DK, Asselbergs, FW, Asvold, BO, Attia, J, Banas, B, Bandinelli, S, Bennett, DA, Bergler, T, Bharadwaj, D, Biino, G, Bisgaard, H, Boerwinkle, E, Boger, CA, Bonnelykke, K, Boomsma, D, Borglum, AD, Borja, JB, Bouchard, C, Bowden, DW, Brandslund, I, Brumpton, B, Buring, JE, Caulfield, MJ, Chambers, JC, Chandak, GR, Chanock, SJ, Chaturvedi, N, Chen, Y-DI, Chen, Z, Cheng, C-Y, Christophersen, IE, Ciullo, M, Cole, JW, Collins, FS, Cooper, RS, Cruz, M, Cucca, F, Cupples, LA, Cutler, MJ, Damrauer, SM, Dantoft, TM, de Borst, GJ, de Groot, LCPGM, De Jager, PL, de Kleijn, DP, de Silva, HJ, Dedoussis, G, den Hollander, A, Du, S, Easton, DF, Elders, PJM, Eliassen, AH, Ellinor, PT, Elmstahl, S, Erdmann, J, Evans, MK, Fatkin, D, Feenstra, B, Feitosa, MF, Ferrucci, L, Ford, I, Fornage, M, Franke, A, Franks, PW, Freedman, B, Gasparini, P, Gieger, C, Girotto, G, Goddard, ME, Golightly, YM, Gonzalez-Villalpando, C, Gordon-Larsen, P, Grallert, H, Grant, SFA, Grarup, N, Griffiths, L, Gudnason, V, Haiman, C, Hakonarson, H, Hansen, T, Hartman, CA, Hattersley, AT, Hayward, C, Heckbert, SR, Heng, C-K, Hengstenberg, C, Hewitt, AW, Hishigaki, H, Hoyng, CB, Huang, PL, Huang, W, Hunt, SC, Hveem, K, Hypponen, E, Iacono, WG, Ichihara, S, Ikram, MA, Isasi, CR, Jackson, RD, Jarvelin, M-R, Jin, Z-B, Jockel, K-H, Joshi, PK, Jousilahti, P, Jukema, JW, Kahonen, M, Kamatani, Y, Kang, KD, Kaprio, J, Kardia, SLR, Karpe, F, Kato, N, Kee, F, Kessler, T, Khera, A, Khor, CC, Kiemeney, LALM, Kim, B-J, Kim, EK, Kim, H-L, Kirchhof, P, Kivimaki, M, Koh, W-P, Koistinen, HA, Kolovou, GD, Kooner, JS, Kooperberg, C, Kottgen, A, Kovacs, P, Kraaijeveld, A, Kraft, P, Krauss, RM, Kumari, M, Kutalik, Z, Laakso, M, Lange, LA, Langenberg, C, Launer, LJ, Le Marchand, L, Lee, H, Lee, NR, Lehtimaki, T, Li, H, Li, L, Lieb, W, Lin, X, Lind, L, Linneberg, A, Liu, C-T, Loeffler, M, London, B, Lubitz, SA, Lye, SJ, Mackey, DA, Magi, R, Magnusson, PKE, Marcus, GM, Vidal, PM, Martin, NG, Marz, W, Matsuda, F, McGarrah, RW, McGue, M, McKnight, AJ, Medland, SE, Mellstrom, D, Metspalu, A, Mitchell, BD, Mitchell, P, Mook-Kanamori, DO, Morris, AD, Mucci, LA, Munroe, PB, Nalls, MA, Nazarian, S, Nelson, AE, Neville, MJ, Newton-Cheh, C, Nielsen, CS, Nothen, MM, Ohlsson, C, Oldehinkel, AJ, Orozco, L, Pahkala, K, Pajukanta, P, Palmer, CNA, Parra, EJ, Pattaro, C, Pedersen, O, Pennell, CE, Penninx, BWJH, Perusse, L, Peters, A, Peyser, PA, Porteous, DJ, Posthuma, D, Power, C, Pramstaller, PP, Province, MA, Qi, Q, Qu, J, Rader, DJ, Raitakari, OT, Ralhan, S, Rallidis, LS, Rao, DC, Redline, S, Reilly, DF, Reiner, AP, Rhee, SY, Ridker, PM, Rienstra, M, Ripatti, S, Ritchie, MD, Roden, DM, Rosendaal, FR, Rotter, J, Rudan, I, Rutters, F, Sabanayagam, C, Saleheen, D, Salomaa, V, Samani, NJ, Sanghera, DK, Sattar, N, Schmidt, B, Schmidt, H, Schmidt, R, Schulze, MB, Schunkert, H, Scott, LJ, Scott, RJ, Sever, P, Shiroma, EJ, Shoemaker, MB, Shu, X-O, Simonsick, EM, Sims, M, Singh, JR, Singleton, AB, Sinner, MF, Smith, JG, Snieder, H, Spector, TD, Stampfer, MJ, Stark, KJ, Strachan, DP, t' Hart, LM, Tabara, Y, Tang, H, Tardif, J-C, Thanaraj, TA, Timpson, NJ, Tonjes, A, Tremblay, A, Tuomi, T, Tuomilehto, J, Tusie-Luna, M-T, Uitterlinden, AG, van Dam, RM, van der Harst, P, Van der Velde, N, van Duijn, CM, van Schoor, NM, Vitart, V, Volker, U, Vollenweider, P, Volzke, H, Wacher-Rodarte, NH, Walker, M, Wang, YX, Wareham, NJ, Watanabe, RM, Watkins, H, Weir, DR, Werge, TM, Widen, E, Wilkens, LR, Willemsen, G, Willett, WC, Wilson, JF, Wong, T-Y, Woo, J-T, Wright, AF, Wu, J-Y, Xu, H, Yajnik, CS, Yokota, M, Yuan, J-M, Zeggini, E, Zemel, BS, Zheng, W, Zhu, X, Zmuda, JM, Zonderman, AB, Zwart, J-A, Chasman, D, Cho, YS, Heid, IM, McCarthy, M, Ng, MCY, O'Donnell, CJ, Rivadeneira, F, Thorsteinsdottir, U, Sun, Y, Tai, ES, Boehnke, M, Deloukas, P, Justice, AE, Lindgren, CM, Loos, RJF, Mohlke, KL, North, KE, Stefansson, K, Walters, RG, Winkler, TW, Young, KL, Loh, P-R, Esko, T, Assimes, TL, Auton, A, Abecasis, GR, Willer, CJ, Locke, AE, Berndt, S, Lettre, G, Frayling, TM, Okada, Y, Wood, AR, Visscher, PM, Hirschhorn, JN, Yengo, L, Vedantam, S, Marouli, E, Sidorenko, J, Bartell, E, Sakaue, S, Graff, M, Eliasen, AU, Jiang, Y, Raghavan, S, Miao, J, Arias, JD, Graham, SE, Mukamel, RE, Spracklen, CN, Yin, X, Chen, S-H, Ferreira, T, Highland, HH, Ji, Y, Karaderi, T, Lin, K, Lull, K, Malden, DE, Medina-Gomez, C, Machado, M, Moore, A, Rueger, S, Sim, X, Vrieze, S, Ahluwalia, TS, Akiyama, M, Allison, MA, Alvarez, M, Andersen, MK, Ani, A, Appadurai, V, Arbeeva, L, Bhaskar, S, Bielak, LF, Bollepalli, S, Bonnycastle, LL, Bork-Jensen, J, Bradfield, JP, Bradford, Y, Braund, PS, Brody, JA, Burgdorf, KS, Cade, BE, Cai, H, Cai, Q, Campbell, A, Canadas-Garre, M, Catamo, E, Chai, J-F, Chai, X, Chang, L-C, Chang, Y-C, Chen, C-H, Chesi, A, Choi, SH, Chung, R-H, Cocca, M, Concas, MP, Couture, C, Cuellar-Partida, G, Danning, R, Daw, EW, Degenhard, F, Delgado, GE, Delitala, A, Demirkan, A, Deng, X, Devineni, P, Dietl, A, Dimitriou, M, Dimitrov, L, Dorajoo, R, Ekici, AB, Engmann, JE, Fairhurst-Hunter, Z, Farmaki, A-E, Faul, JD, Fernandez-Lopez, J-C, Forer, L, Francescatto, M, Freitag-Wolf, S, Fuchsberger, C, Galesloot, TE, Gao, Y, Gao, Z, Geller, F, Giannakopoulou, O, Giulianini, F, Gjesing, AP, Goel, A, Gordon, SD, Gorski, M, Grove, J, Guo, X, Gustafsson, S, Haessler, J, Hansen, TF, Havulinna, AS, Haworth, SJ, He, J, Heard-Costa, N, Hebbar, P, Hindy, G, Ho, Y-LA, Hofer, E, Holliday, E, Horn, K, Hornsby, WE, Hottenga, J-J, Huang, H, Huang, J, Huerta-Chagoya, A, Huffman, JE, Hung, Y-J, Huo, S, Hwang, MY, Iha, H, Ikeda, DD, Isono, M, Jackson, AU, Jager, S, Jansen, IE, Johansson, I, Jonas, JB, Jonsson, A, Jorgensen, T, Kalafati, I-P, Kanai, M, Kanoni, S, Karhus, LL, Kasturiratne, A, Katsuya, T, Kawaguchi, T, Kember, RL, Kentistou, KA, Kim, H-N, Kim, YJ, Kleber, ME, Knol, MJ, Kurbasic, A, Lauzon, M, Le, P, Lea, R, Lee, J-Y, Leonard, HL, Li, SA, Li, X, Liang, J, Lin, H, Lin, S-Y, Liu, J, Liu, X, Lo, KS, Long, J, Lores-Motta, L, Luan, J, Lyssenko, V, Lyytikainen, L-P, Mahajan, A, Mamakou, V, Mangino, M, Manichaikul, A, Marten, J, Mattheisen, M, Mavarani, L, McDaid, AF, Meidtner, K, Melendez, TL, Mercader, JM, Milaneschi, Y, Miller, JE, Millwood, IY, Mishra, PP, Mitchell, RE, Mollehave, LT, Morgan, A, Mucha, S, Munz, M, Nakatochi, M, Nelson, CP, Nethander, M, Nho, CW, Nielsen, AA, Nolte, IM, Nongmaithem, SS, Noordam, R, Ntalla, I, Nutile, T, Pandit, A, Christofidou, P, Parna, K, Pauper, M, Petersen, ERB, Petersen, L, Pitkanen, N, Polasek, O, Poveda, A, Preuss, MH, Pyarajan, S, Raffield, LM, Rakugi, H, Ramirez, J, Rasheed, A, Raven, D, Rayner, NW, Riveros, C, Rohde, R, Ruggiero, D, Ruotsalainen, SE, Ryan, KA, Sabater-Lleal, M, Saxena, R, Scholz, M, Sendamarai, A, Shen, B, Shi, J, Shin, JH, Sidore, C, Sitlani, CM, Slieker, RKC, Smit, RAJ, Smith, A, Smith, JA, Smyth, LJ, Southam, LE, Steinthorsdottir, V, Sun, L, Takeuchi, F, Tallapragada, D, Taylor, KD, Tayo, BO, Tcheandjieu, C, Terzikhan, N, Tesolin, P, Teumer, A, Theusch, E, Thompson, DJ, Thorleifsson, G, Timmers, PRHJ, Trompet, S, Turman, C, Vaccargiu, S, van der Laan, SW, van der Most, PJ, van Klinken, JB, van Setten, J, Verma, SS, Verweij, N, Veturi, Y, Wang, CA, Wang, C, Wang, L, Wang, Z, Warren, HR, Wei, WB, Wickremasinghe, AR, Wielscher, M, Wiggins, KL, Winsvold, BS, Wong, A, Wu, Y, Wuttke, M, Xia, R, Xie, T, Yamamoto, K, Yang, J, Yao, J, Young, H, Yousri, NA, Yu, L, Zeng, L, Zhang, W, Zhang, X, Zhao, J-H, Zhao, W, Zhou, W, Zimmermann, ME, Zoledziewska, M, Adair, LS, Adams, HHH, Aguilar-Salinas, CA, Al-Mulla, F, Arnett, DK, Asselbergs, FW, Asvold, BO, Attia, J, Banas, B, Bandinelli, S, Bennett, DA, Bergler, T, Bharadwaj, D, Biino, G, Bisgaard, H, Boerwinkle, E, Boger, CA, Bonnelykke, K, Boomsma, D, Borglum, AD, Borja, JB, Bouchard, C, Bowden, DW, Brandslund, I, Brumpton, B, Buring, JE, Caulfield, MJ, Chambers, JC, Chandak, GR, Chanock, SJ, Chaturvedi, N, Chen, Y-DI, Chen, Z, Cheng, C-Y, Christophersen, IE, Ciullo, M, Cole, JW, Collins, FS, Cooper, RS, Cruz, M, Cucca, F, Cupples, LA, Cutler, MJ, Damrauer, SM, Dantoft, TM, de Borst, GJ, de Groot, LCPGM, De Jager, PL, de Kleijn, DP, de Silva, HJ, Dedoussis, G, den Hollander, A, Du, S, Easton, DF, Elders, PJM, Eliassen, AH, Ellinor, PT, Elmstahl, S, Erdmann, J, Evans, MK, Fatkin, D, Feenstra, B, Feitosa, MF, Ferrucci, L, Ford, I, Fornage, M, Franke, A, Franks, PW, Freedman, B, Gasparini, P, Gieger, C, Girotto, G, Goddard, ME, Golightly, YM, Gonzalez-Villalpando, C, Gordon-Larsen, P, Grallert, H, Grant, SFA, Grarup, N, Griffiths, L, Gudnason, V, Haiman, C, Hakonarson, H, Hansen, T, Hartman, CA, Hattersley, AT, Hayward, C, Heckbert, SR, Heng, C-K, Hengstenberg, C, Hewitt, AW, Hishigaki, H, Hoyng, CB, Huang, PL, Huang, W, Hunt, SC, Hveem, K, Hypponen, E, Iacono, WG, Ichihara, S, Ikram, MA, Isasi, CR, Jackson, RD, Jarvelin, M-R, Jin, Z-B, Jockel, K-H, Joshi, PK, Jousilahti, P, Jukema, JW, Kahonen, M, Kamatani, Y, Kang, KD, Kaprio, J, Kardia, SLR, Karpe, F, Kato, N, Kee, F, Kessler, T, Khera, A, Khor, CC, Kiemeney, LALM, Kim, B-J, Kim, EK, Kim, H-L, Kirchhof, P, Kivimaki, M, Koh, W-P, Koistinen, HA, Kolovou, GD, Kooner, JS, Kooperberg, C, Kottgen, A, Kovacs, P, Kraaijeveld, A, Kraft, P, Krauss, RM, Kumari, M, Kutalik, Z, Laakso, M, Lange, LA, Langenberg, C, Launer, LJ, Le Marchand, L, Lee, H, Lee, NR, Lehtimaki, T, Li, H, Li, L, Lieb, W, Lin, X, Lind, L, Linneberg, A, Liu, C-T, Loeffler, M, London, B, Lubitz, SA, Lye, SJ, Mackey, DA, Magi, R, Magnusson, PKE, Marcus, GM, Vidal, PM, Martin, NG, Marz, W, Matsuda, F, McGarrah, RW, McGue, M, McKnight, AJ, Medland, SE, Mellstrom, D, Metspalu, A, Mitchell, BD, Mitchell, P, Mook-Kanamori, DO, Morris, AD, Mucci, LA, Munroe, PB, Nalls, MA, Nazarian, S, Nelson, AE, Neville, MJ, Newton-Cheh, C, Nielsen, CS, Nothen, MM, Ohlsson, C, Oldehinkel, AJ, Orozco, L, Pahkala, K, Pajukanta, P, Palmer, CNA, Parra, EJ, Pattaro, C, Pedersen, O, Pennell, CE, Penninx, BWJH, Perusse, L, Peters, A, Peyser, PA, Porteous, DJ, Posthuma, D, Power, C, Pramstaller, PP, Province, MA, Qi, Q, Qu, J, Rader, DJ, Raitakari, OT, Ralhan, S, Rallidis, LS, Rao, DC, Redline, S, Reilly, DF, Reiner, AP, Rhee, SY, Ridker, PM, Rienstra, M, Ripatti, S, Ritchie, MD, Roden, DM, Rosendaal, FR, Rotter, J, Rudan, I, Rutters, F, Sabanayagam, C, Saleheen, D, Salomaa, V, Samani, NJ, Sanghera, DK, Sattar, N, Schmidt, B, Schmidt, H, Schmidt, R, Schulze, MB, Schunkert, H, Scott, LJ, Scott, RJ, Sever, P, Shiroma, EJ, Shoemaker, MB, Shu, X-O, Simonsick, EM, Sims, M, Singh, JR, Singleton, AB, Sinner, MF, Smith, JG, Snieder, H, Spector, TD, Stampfer, MJ, Stark, KJ, Strachan, DP, t' Hart, LM, Tabara, Y, Tang, H, Tardif, J-C, Thanaraj, TA, Timpson, NJ, Tonjes, A, Tremblay, A, Tuomi, T, Tuomilehto, J, Tusie-Luna, M-T, Uitterlinden, AG, van Dam, RM, van der Harst, P, Van der Velde, N, van Duijn, CM, van Schoor, NM, Vitart, V, Volker, U, Vollenweider, P, Volzke, H, Wacher-Rodarte, NH, Walker, M, Wang, YX, Wareham, NJ, Watanabe, RM, Watkins, H, Weir, DR, Werge, TM, Widen, E, Wilkens, LR, Willemsen, G, Willett, WC, Wilson, JF, Wong, T-Y, Woo, J-T, Wright, AF, Wu, J-Y, Xu, H, Yajnik, CS, Yokota, M, Yuan, J-M, Zeggini, E, Zemel, BS, Zheng, W, Zhu, X, Zmuda, JM, Zonderman, AB, Zwart, J-A, Chasman, D, Cho, YS, Heid, IM, McCarthy, M, Ng, MCY, O'Donnell, CJ, Rivadeneira, F, Thorsteinsdottir, U, Sun, Y, Tai, ES, Boehnke, M, Deloukas, P, Justice, AE, Lindgren, CM, Loos, RJF, Mohlke, KL, North, KE, Stefansson, K, Walters, RG, Winkler, TW, Young, KL, Loh, P-R, Esko, T, Assimes, TL, Auton, A, Abecasis, GR, Willer, CJ, Locke, AE, Berndt, S, Lettre, G, Frayling, TM, Okada, Y, Wood, AR, Visscher, PM, and Hirschhorn, JN
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

20. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning

Author: Lahti, J, Tuominen, S, Yang, Q, Pergola, G, Ahmad, S, Amin, N, Armstrong, NJ, Beiser, A, Bey, K, Bis, JC, Boerwinkle, E, Bressler, J, Campbell, A, Campbell, H, Chen, Q, Corley, J, Cox, SR, Davies, G, De Jager, PL, Derks, EM, Faul, JD, Fitzpatrick, AL, Fohner, AE, Ford, I, Fornage, M, Gerring, Z, Grabe, HJ, Grodstein, F, Gudnason, V, Simonsick, E, Holliday, EG, Joshi, PK, Kajantie, E, Kaprio, J, Karell, P, Kleineidam, L, Knol, MJ, Kochan, NA, Kwok, JB, Leber, M, Lam, M, Lee, T, Li, S, Loukola, A, Luck, T, Marioni, RE, Mather, KA, Medland, S, Mirza, SS, Nalls, MA, Nho, K, O'Donnell, A, Oldmeadow, C, Painter, J, Pattie, A, Reppermund, S, Risacher, SL, Rose, RJ, Sadashivaiah, V, Scholz, M, Satizabal, CL, Schofield, PW, Schraut, KE, Scott, RJ, Simino, J, Smith, AV, Smith, JA, Stott, DJ, Surakka, I, Teumer, A, Thalamuthu, A, Trompet, S, Turner, ST, van der Lee, SJ, Villringer, A, Voelker, U, Wilson, RS, Wittfeld, K, Vuoksimaa, E, Xia, R, Yaffe, K, Yu, L, Zare, H, Zhao, W, Ames, D, Attia, J, Bennett, DA, Brodaty, H, Chasman, DI, Goldman, AL, Hayward, C, Ikram, MA, Jukema, JW, Kardia, SLR, Lencz, T, Loeffler, M, Mattay, VS, Palotie, A, Psaty, BM, Ramirez, A, Ridker, PM, Riedel-Heller, SG, Sachdev, PS, Saykin, AJ, Scherer, M, Schofield, PR, Sidney, S, Starr, JM, Trollor, J, Ulrich, W, Wagner, M, Weir, DR, Wilson, JF, Wright, MJ, Weinberger, DR, Debette, S, Eriksson, JG, Mosley, TH, Launer, LJ, van Duijn, CM, Deary, IJ, Seshadri, S, Raikkonen, K, Lahti, J, Tuominen, S, Yang, Q, Pergola, G, Ahmad, S, Amin, N, Armstrong, NJ, Beiser, A, Bey, K, Bis, JC, Boerwinkle, E, Bressler, J, Campbell, A, Campbell, H, Chen, Q, Corley, J, Cox, SR, Davies, G, De Jager, PL, Derks, EM, Faul, JD, Fitzpatrick, AL, Fohner, AE, Ford, I, Fornage, M, Gerring, Z, Grabe, HJ, Grodstein, F, Gudnason, V, Simonsick, E, Holliday, EG, Joshi, PK, Kajantie, E, Kaprio, J, Karell, P, Kleineidam, L, Knol, MJ, Kochan, NA, Kwok, JB, Leber, M, Lam, M, Lee, T, Li, S, Loukola, A, Luck, T, Marioni, RE, Mather, KA, Medland, S, Mirza, SS, Nalls, MA, Nho, K, O'Donnell, A, Oldmeadow, C, Painter, J, Pattie, A, Reppermund, S, Risacher, SL, Rose, RJ, Sadashivaiah, V, Scholz, M, Satizabal, CL, Schofield, PW, Schraut, KE, Scott, RJ, Simino, J, Smith, AV, Smith, JA, Stott, DJ, Surakka, I, Teumer, A, Thalamuthu, A, Trompet, S, Turner, ST, van der Lee, SJ, Villringer, A, Voelker, U, Wilson, RS, Wittfeld, K, Vuoksimaa, E, Xia, R, Yaffe, K, Yu, L, Zare, H, Zhao, W, Ames, D, Attia, J, Bennett, DA, Brodaty, H, Chasman, DI, Goldman, AL, Hayward, C, Ikram, MA, Jukema, JW, Kardia, SLR, Lencz, T, Loeffler, M, Mattay, VS, Palotie, A, Psaty, BM, Ramirez, A, Ridker, PM, Riedel-Heller, SG, Sachdev, PS, Saykin, AJ, Scherer, M, Schofield, PR, Sidney, S, Starr, JM, Trollor, J, Ulrich, W, Wagner, M, Weir, DR, Wilson, JF, Wright, MJ, Weinberger, DR, Debette, S, Eriksson, JG, Mosley, TH, Launer, LJ, van Duijn, CM, Deary, IJ, Seshadri, S, and Raikkonen, K
Abstract: Understanding the genomic basis of memory processes may help in combating neurodegenerative disorders. Hence, we examined the associations of common genetic variants with verbal short-term memory and verbal learning in adults without dementia or stroke (N = 53,637). We identified novel loci in the intronic region of CDH18, and at 13q21 and 3p21.1, as well as an expected signal in the APOE/APOC1/TOMM40 region. These results replicated in an independent sample. Functional and bioinformatic analyses supported many of these loci and further implicated POC1. We showed that polygenic score for verbal learning associated with brain activation in right parieto-occipital region during working memory task. Finally, we showed genetic correlations of these memory traits with several neurocognitive and health outcomes. Our findings suggest a role of several genomic loci in verbal memory processes.
Published: 2022

21. Grundwasserbeschaffenheit in der Elster-Luppe-Aue

Author: Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Krüger, A., Harzer, R., Schneider, B., Heinrich, J., Scholz, Mathias, Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Krüger, A., Harzer, R., Schneider, B., Heinrich, J., and Scholz, Mathias
Abstract: Die Flussauen zählen in Europa zu den komplexesten und artenreichsten ökologischen Systemen. Der Mensch hat diese Lebensräume durch massive Eingriffe in das hydrologische Regime von Flüssen, strukturelle Änderungen und zunehmende Nähr- und Schadstoffbelastung erheblich verändert oder zerstört. Mit Nachdruck wird deshalb schon seit Jahren der ökologisch verträgliche Umgang mit Auen gefordert. Diese gesellschaftliche Zielsetzung erfordert es, die ökologischen Auswirkungen von Eingriffen, insbesondere von Nutzungsänderungen und flussbaulichen Maßnahmen, hinreichend sicher abschätzen zu können.Leipzig ist die einzige deutsche Großstadt, in der großflächige Hartholz-Auenwälder entlang von Weißer Elster, Pleiße und Luppe erhalten geblieben sind. Momentan stellen Austrocknung und fehlende Hydrodynamik durch Entkoppelung von Fluss und Aue, verursacht durch den technischen Ausbau der Gewässerlandschaft im 19ten und 20igsten Jahrhundert um Hochwasser möglichst schnell aus der Flusslandschaft zu bringen, die größten Herausforderungen für den Erhalt der Auenlandschaft dar. Um das Leipziger Auensystem wieder in einen funktionierenden Auenraum zu entwickeln, muss darüber hinaus dem weiteren Verlust von Lebensräumen, wie z.B. naturraumtypischen Fließgewässern und artenreichem Auengrünland, entgegen gewirkt werden. Mit der Wiederherstellung auentypischer Wasserverhältnisse und Lebensräume lassen sich mittelfristig Biodiversität und zahlreiche Ökosystemleistungen nachhaltig sichern.
Published: 2022

22. Untersuchungsdesign der naturwissenschaftlichen Begleitung im Projekt Lebendige Luppe

Author: Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Hartmann, Timo, Heinrich, J., Henle, Klaus, Kasperidus, Hans Dieter, Krüger, A., Löffler, F., Masurowski, Frank, Vieweg, Michael, Wirth, C., Wilke, T., Scholz, Mathias, Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Hartmann, Timo, Heinrich, J., Henle, Klaus, Kasperidus, Hans Dieter, Krüger, A., Löffler, F., Masurowski, Frank, Vieweg, Michael, Wirth, C., Wilke, T., and Scholz, Mathias
Abstract: Die Flussauen zählen in Europa zu den komplexesten und artenreichsten ökologischen Systemen. Der Mensch hat diese Lebensräume durch massive Eingriffe in das hydrologische Regime von Flüssen, strukturelle Änderungen und zunehmende Nähr- und Schadstoffbelastung erheblich verändert oder zerstört. Mit Nachdruck wird deshalb schon seit Jahren der ökologisch verträgliche Umgang mit Auen gefordert. Diese gesellschaftliche Zielsetzung erfordert es, die ökologischen Auswirkungen von Eingriffen, insbesondere von Nutzungsänderungen und flussbaulichen Maßnahmen, hinreichend sicher abschätzen zu können.Leipzig ist die einzige deutsche Großstadt, in der großflächige Hartholz-Auenwälder entlang von Weißer Elster, Pleiße und Luppe erhalten geblieben sind. Momentan stellen Austrocknung und fehlende Hydrodynamik durch Entkoppelung von Fluss und Aue, verursacht durch den technischen Ausbau der Gewässerlandschaft im 19ten und 20igsten Jahrhundert um Hochwasser möglichst schnell aus der Flusslandschaft zu bringen, die größten Herausforderungen für den Erhalt der Auenlandschaft dar. Um das Leipziger Auensystem wieder in einen funktionierenden Auenraum zu entwickeln, muss darüber hinaus dem weiteren Verlust von Lebensräumen, wie z.B. naturraumtypischen Fließgewässern und artenreichem Auengrünland, entgegen gewirkt werden. Mit der Wiederherstellung auentypischer Wasserverhältnisse und Lebensräume lassen sich mittelfristig Biodiversität und zahlreiche Ökosystemleistungen nachhaltig sichern.
Published: 2022

23. Der Gehölzbestand des Stieleichen-Ulmen-Hartholzauenwalds (Querco-Ulmetum minoris ISSLER 1942) im Projektgebiet Lebendige Luppe in der Elster-Luppe-Aue bei Leipzig

Author: Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Hartmann, Timo, Pruschitzki, U., Kasperidus, Hans Dieter, Scholz, Mathias, Wirth, C., Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Hartmann, Timo, Pruschitzki, U., Kasperidus, Hans Dieter, Scholz, Mathias, and Wirth, C.
Abstract: Die Flussauen zählen in Europa zu den komplexesten und artenreichsten ökologischen Systemen. Der Mensch hat diese Lebensräume durch massive Eingriffe in das hydrologische Regime von Flüssen, strukturelle Änderungen und zunehmende Nähr- und Schadstoffbelastung erheblich verändert oder zerstört. Mit Nachdruck wird deshalb schon seit Jahren der ökologisch verträgliche Umgang mit Auen gefordert. Diese gesellschaftliche Zielsetzung erfordert es, die ökologischen Auswirkungen von Eingriffen, insbesondere von Nutzungsänderungen und flussbaulichen Maßnahmen, hinreichend sicher abschätzen zu können. Leipzig ist die einzige deutsche Großstadt, in der großflächige Hartholz-Auenwälder entlang von Weißer Elster, Pleiße und Luppe erhalten geblieben sind. Momentan stellen Austrocknung und fehlende Hydrodynamik durch Entkoppelung von Fluss und Aue, verursacht durch den technischen Ausbau der Gewässerlandschaft im 19ten und 20igsten Jahrhundert um Hochwasser möglichst schnell aus der Flusslandschaft zu bringen, die größten Herausforderungen für den Erhalt der Auenlandschaft dar. Um das Leipziger Auensystem wieder in einen funktionierenden Auenraum zu entwickeln, muss darüber hinaus dem weiteren Verlust von Lebensräumen, wie z.B. naturraumtypischen Fließgewässern und artenreichem Auengrünland, entgegen gewirkt werden. Mit der Wiederherstellung auentypischer Wasserverhältnisse und Lebensräume lassen sich mittelfristig Biodiversität und zahlreiche Ökosystemleistungen nachhaltig sichern.
Published: 2022

24. Wasserstands- und Durchflussmessungen in den Papitzer Lachen und Altläufen der Luppe im Nordwesten des Leipziger Auensystems

Author: Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Nebel, S., Vieweg, Michael, Scholz, Mathias, Krüger, A., Heinrich, J., Kasperidus, Hans Dieter, Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Nebel, S., Vieweg, Michael, Scholz, Mathias, Krüger, A., Heinrich, J., and Kasperidus, Hans Dieter
Abstract: Die Flussauen zählen in Europa zu den komplexesten und artenreichsten ökologischen Systemen. Der Mensch hat diese Lebensräume durch massive Eingriffe in das hydrologische Regime von Flüssen, strukturelle Änderungen und zunehmende Nähr- und Schadstoffbelastung erheblich verändert oder zerstört. Mit Nachdruck wird deshalb schon seit Jahren der ökologisch verträgliche Umgang mit Auen gefordert. Diese gesellschaftliche Zielsetzung erfordert es, die ökologischen Auswirkungen von Eingriffen, insbesondere von Nutzungsänderungen und flussbaulichen Maßnahmen, hinreichend sicher abschätzen zu können.Leipzig ist die einzige deutsche Großstadt, in der großflächige Hartholz-Auenwälder entlang von Weißer Elster, Pleiße und Luppe erhalten geblieben sind. Momentan stellen Austrocknung und fehlende Hydrodynamik durch Entkoppelung von Fluss und Aue, verursacht durch den technischen Ausbau der Gewässerlandschaft im 19ten und 20igsten Jahrhundert um Hochwasser möglichst schnell aus der Flusslandschaft zu bringen, die größten Herausforderungen für den Erhalt der Auenlandschaft dar. Um das Leipziger Auensystem wieder in einen funktionierenden Auenraum zu entwickeln, muss darüber hinaus dem weiteren Verlust von Lebensräumen, wie z.B. naturraumtypischen Fließgewässern und artenreichem Auengrünland, entgegen gewirkt werden. Mit der Wiederherstellung auentypischer Wasserverhältnisse und Lebensräume lassen sich mittelfristig Biodiversität und zahlreiche Ökosystemleistungen nachhaltig sichern.
Published: 2022

25. Das Projekt Lebendige Luppe - Einführung in den Untersuchungsraum Elster-Luppe-Aue

Author: Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Scholz, Mathias, Heinrich, J., Henle, Klaus, Kasperidus, Hans Dieter, Löffler, F., Masurowski, Frank, Sahlbach, T., Vieweg, Michael, Wilke, T., Wirth, C., Zábojník, A., Scholz, M., Seele-Dilbat, C., Engelmann, R.A., Kasperidus, H.D., Kirsten, F., Herkelrath-Bleyl, A., Vieweg, M., Scholz, Mathias, Heinrich, J., Henle, Klaus, Kasperidus, Hans Dieter, Löffler, F., Masurowski, Frank, Sahlbach, T., Vieweg, Michael, Wilke, T., Wirth, C., and Zábojník, A.
Abstract: Die Flussauen zählen in Europa zu den komplexesten und artenreichsten ökologischen Systemen. Der Mensch hat diese Lebensräume durch massive Eingriffe in das hydrologische Regime von Flüssen, strukturelle Änderungen und zunehmende Nähr- und Schadstoffbelastung erheblich verändert oder zerstört. Mit Nachdruck wird deshalb schon seit Jahren der ökologisch verträgliche Umgang mit Auen gefordert. Diese gesellschaftliche Zielsetzung erfordert es, die ökologischen Auswirkungen von Eingriffen, insbesondere von Nutzungsänderungen und flussbaulichen Maßnahmen, hinreichend sicher abschätzen zu können.Leipzig ist die einzige deutsche Großstadt, in der großflächige Hartholz-Auenwälder entlang von Weißer Elster, Pleiße und Luppe erhalten geblieben sind. Momentan stellen Austrocknung und fehlende Hydrodynamik durch Entkoppelung von Fluss und Aue, verursacht durch den technischen Ausbau der Gewässerlandschaft im 19ten und 20igsten Jahrhundert um Hochwasser möglichst schnell aus der Flusslandschaft zu bringen, die größten Herausforderungen für den Erhalt der Auenlandschaft dar. Um das Leipziger Auensystem wieder in einen funktionierenden Auenraum zu entwickeln, muss darüber hinaus dem weiteren Verlust von Lebensräumen, wie z.B. naturraumtypischen Fließgewässern und artenreichem Auengrünland, entgegen gewirkt werden. Mit der Wiederherstellung auentypischer Wasserverhältnisse und Lebensräume lassen sich mittelfristig Biodiversität und zahlreiche Ökosystemleistungen nachhaltig sichern.
Published: 2022

26. Salutogenesis needed - resilience and sense of coherence in 1st year medical students and its association to biological gender

Author: Luibl, L, Scholz, M, Burger, PH, Luibl, L, Scholz, M, and Burger, PH
Published: 2021

27. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author: Gorski, M. (Mathias), Jung, B. (Bettina), Li, Y. (Yong), Matias-Garcia, P.R. (Pamela R.), Wuttke, M. (Matthias), Coassin, S. (Stefan), Thio, C.H.L. (Chris H.L.), Kleber, M.E. (Marcus E.), Winkler, T.W. (Thomas W.), Wanner, V. (Veronika), Chai, J.-F. (Jin-Fang), Chu, A.Y. (Audrey Y), Cocca, M. (Massimiliano), Feitosa, M.F. (Mary Furlan), Ghasemi, S. (Sahar), Hoppmann, A. (Anselm), Horn, K. (Katrin), Li, M. (Man), Nutile, T. (Teresa), Scholz, M. (Markus), Sieber, K.B. (Karsten B.), Teumer, A. (Alexander), Tin, A. (Adrienne), Wang, J. (Judy), Tayo, B. (Bamidele), Ahluwalia, T.S. (Tarunveer Singh), Almgren, P. (Peter), Bakker, S.J.L. (Stephan), Banas, B. (Bernhard), Bansal, N. (Nisha), Biggs, M.L. (M.), Boerwinkle, E.A. (Eric), Bottinger, E.P. (Erwin), Brenner, H. (Hermann), Carroll, R.J. (Robert J.), Chalmers, J. (John), Chee, M.-L. (Miao-Li), Chee, M.-L. (Miao-Ling), Cheng, C.-Y. (Ching-Yu), Coresh, J. (Josef), de Borst, M.H. (Martin H.), Degenhardt, F. (Frauke), Eckardt, K.-U. (Kai-Uwe), Endlich, K. (Karlhans), Franke, A. (Andre), Freitag-Wolf, S. (Sandra), Gampawar, P. (Piyush), Gansevoort, R.T. (Ron), Ghanbari, M. (Mohsen), Gieger, C. (Christian), Hamet, P. (Pavel), Ho, K. (Kevin), Hofer, E. (Edith), Holleczek, B. (B.), Xian Foo, V.H. (Valencia Hui), Hutri-Kähönen, N. (Nina), Hwang, S.-J. (Shih-Jen), Ikram, M.A. (Arfan), Josyula, N.S. (Navya Shilpa), Kähönen, M. (Mika), Khor, C.C., Koenig, W. (Wolfgang), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kuhnel, B. (Brigitte), Lange, L.A. (Leslie A.), Lehtimäki, T. (Terho), Lieb, W. (Wolfgang), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (H. Marike), Franke, L. (Lude), van der Harst, P. (Pim), Matullo, G., Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M. (Morris), Wolffenbuttel, B.H.R. (Bruce), Wijmenga, C. (Cisca), Abecasis, G.R. (Gonçalo), Baras, A. (Aris), Cantor, M. (Michael), Coppola, G. (Giovanni), Economides, A. (Aris), Lotta, L.A. (Luca A.), Overton, J.D. (John D.), Reid, J.G. (Jeffrey G.), Shuldiner, A. (Alan), Beechert, C. (Christina), Forsythe, C. (Caitlin), Fuller, E.D. (Erin D.), Gu, Z. (Zhenhua), Lattari, M. (Michael), Lopez, A. (Alexander), Schleicher, T.D. (Thomas D.), Padilla, M.S. (Maria Sotiropoulos), Toledo, K. (Karina), Widom, L. (Louis), Wolf, S.E. (Sarah E.), Pradhan, M. (Manasi), Manoochehri, K. (Kia), Ulloa, R.H. (Ricardo H.), Bai, X. (Xiaodong), Balasubramanian, S. (Suganthi), Barnard, L. (Leland), Blumenfeld, A. (Andrew), Eom, G. (Gisu), Habegger, L. (Lukas), Hawes, A. (Alicia), Khalid, S. (Shareef), Maxwell, E.K. (Evan K.), Salerno, W. (William), Staples, J.C. (Jeffrey C.), Jones, M.B. (Marcus B.), Mitnaul, L.J. (Lyndon), Loos, R.J.F. (Ruth J.F.), Lukas, M.A. (Mary Ann), Lyytikäinen, L.-P. (Leo-Pekka), Meisinger, C. (Christa), Meitinger, T. (Thomas), Melander, O. (Olle), Milaneschi, Y. (Yuri), Mishra, P.P. (Pashupati P.), Mononen, N. (Nina), Mychaleckyj, J.C. (Josyf), Nadkarni, G. (Girish), Nauck, M. (Matthias), Nikus, K. (Kjell), Ning, B. (Boting), Nolte, I.M. (Ilja), O'Donoghue, M.L. (Michelle L.), Orho-Melander, M. (Marju), Pendergrass, S.A. (Sarah), Penninx, B.W.J.H. (Brenda), Preuss, M. (Michael), Psaty, B.M. (Bruce M.), Raffield, L.M. (Laura M.), Raitakari, O. (Olli), Rettig, R. (Rainer), Rheinberger, M. (Myriam), Rice, K.M. (Kenneth M.), Rosenkranz, A.R. (Alexander R.), Rossing, K., Rotter, J.I. (Jerome I.), Sabanayagam, C. (Charumathi), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Schöttker, B. (Ben), Schulz, C.A. (Christina Alexandra), Sedaghat, S. (Sanaz), Shaffer, C.M. (Christian M.), Strauch, K. (Konstantin), Szymczak, S. (Silke), Taylor, K.D. (Kent D.), Tremblay, J. (Johanne), Chaker, L. (Layal), Most, P.J. (Peter) van der, Verweij, N. (Niek), Völker, U. (Uwe), Waldenberger, M. (Melanie), Wallentin, L.C. (Lars), Waterworth, D.M. (Dawn M.), White, H.D. (Harvey), Wilson, J.G. (James G.), Wong, T.-Y. (Tien-Yin), Woodward, M. (Mark), Yang, Q. (Qiong), Yasuda, M. (Masayuki), Yerges-Armstrong, L.M. (Laura), Zhang, Y. (Yan), Wanner, C. (Christoph), Böger, C.A. (Carsten), Köttgen, A. (Anna), Kronenberg, F. (Florian), Penninx, B.W.J.H., Heid, I.M. (Iris), Gorski, M. (Mathias), Jung, B. (Bettina), Li, Y. (Yong), Matias-Garcia, P.R. (Pamela R.), Wuttke, M. (Matthias), Coassin, S. (Stefan), Thio, C.H.L. (Chris H.L.), Kleber, M.E. (Marcus E.), Winkler, T.W. (Thomas W.), Wanner, V. (Veronika), Chai, J.-F. (Jin-Fang), Chu, A.Y. (Audrey Y), Cocca, M. (Massimiliano), Feitosa, M.F. (Mary Furlan), Ghasemi, S. (Sahar), Hoppmann, A. (Anselm), Horn, K. (Katrin), Li, M. (Man), Nutile, T. (Teresa), Scholz, M. (Markus), Sieber, K.B. (Karsten B.), Teumer, A. (Alexander), Tin, A. (Adrienne), Wang, J. (Judy), Tayo, B. (Bamidele), Ahluwalia, T.S. (Tarunveer Singh), Almgren, P. (Peter), Bakker, S.J.L. (Stephan), Banas, B. (Bernhard), Bansal, N. (Nisha), Biggs, M.L. (M.), Boerwinkle, E.A. (Eric), Bottinger, E.P. (Erwin), Brenner, H. (Hermann), Carroll, R.J. (Robert J.), Chalmers, J. (John), Chee, M.-L. (Miao-Li), Chee, M.-L. (Miao-Ling), Cheng, C.-Y. (Ching-Yu), Coresh, J. (Josef), de Borst, M.H. (Martin H.), Degenhardt, F. (Frauke), Eckardt, K.-U. (Kai-Uwe), Endlich, K. (Karlhans), Franke, A. (Andre), Freitag-Wolf, S. (Sandra), Gampawar, P. (Piyush), Gansevoort, R.T. (Ron), Ghanbari, M. (Mohsen), Gieger, C. (Christian), Hamet, P. (Pavel), Ho, K. (Kevin), Hofer, E. (Edith), Holleczek, B. (B.), Xian Foo, V.H. (Valencia Hui), Hutri-Kähönen, N. (Nina), Hwang, S.-J. (Shih-Jen), Ikram, M.A. (Arfan), Josyula, N.S. (Navya Shilpa), Kähönen, M. (Mika), Khor, C.C., Koenig, W. (Wolfgang), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kuhnel, B. (Brigitte), Lange, L.A. (Leslie A.), Lehtimäki, T. (Terho), Lieb, W. (Wolfgang), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (H. Marike), Franke, L. (Lude), van der Harst, P. (Pim), Matullo, G., Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M. (Morris), Wolffenbuttel, B.H.R. (Bruce), Wijmenga, C. (Cisca), Abecasis, G.R. (Gonçalo), Baras, A. (Aris), Cantor, M. (Michael), Coppola, G. (Giovanni), Economides, A. (Aris), Lotta, L.A. (Luca A.), Overton, J.D. (John D.), Reid, J.G. (Jeffrey G.), Shuldiner, A. (Alan), Beechert, C. (Christina), Forsythe, C. (Caitlin), Fuller, E.D. (Erin D.), Gu, Z. (Zhenhua), Lattari, M. (Michael), Lopez, A. (Alexander), Schleicher, T.D. (Thomas D.), Padilla, M.S. (Maria Sotiropoulos), Toledo, K. (Karina), Widom, L. (Louis), Wolf, S.E. (Sarah E.), Pradhan, M. (Manasi), Manoochehri, K. (Kia), Ulloa, R.H. (Ricardo H.), Bai, X. (Xiaodong), Balasubramanian, S. (Suganthi), Barnard, L. (Leland), Blumenfeld, A. (Andrew), Eom, G. (Gisu), Habegger, L. (Lukas), Hawes, A. (Alicia), Khalid, S. (Shareef), Maxwell, E.K. (Evan K.), Salerno, W. (William), Staples, J.C. (Jeffrey C.), Jones, M.B. (Marcus B.), Mitnaul, L.J. (Lyndon), Loos, R.J.F. (Ruth J.F.), Lukas, M.A. (Mary Ann), Lyytikäinen, L.-P. (Leo-Pekka), Meisinger, C. (Christa), Meitinger, T. (Thomas), Melander, O. (Olle), Milaneschi, Y. (Yuri), Mishra, P.P. (Pashupati P.), Mononen, N. (Nina), Mychaleckyj, J.C. (Josyf), Nadkarni, G. (Girish), Nauck, M. (Matthias), Nikus, K. (Kjell), Ning, B. (Boting), Nolte, I.M. (Ilja), O'Donoghue, M.L. (Michelle L.), Orho-Melander, M. (Marju), Pendergrass, S.A. (Sarah), Penninx, B.W.J.H. (Brenda), Preuss, M. (Michael), Psaty, B.M. (Bruce M.), Raffield, L.M. (Laura M.), Raitakari, O. (Olli), Rettig, R. (Rainer), Rheinberger, M. (Myriam), Rice, K.M. (Kenneth M.), Rosenkranz, A.R. (Alexander R.), Rossing, K., Rotter, J.I. (Jerome I.), Sabanayagam, C. (Charumathi), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Schöttker, B. (Ben), Schulz, C.A. (Christina Alexandra), Sedaghat, S. (Sanaz), Shaffer, C.M. (Christian M.), Strauch, K. (Konstantin), Szymczak, S. (Silke), Taylor, K.D. (Kent D.), Tremblay, J. (Johanne), Chaker, L. (Layal), Most, P.J. (Peter) van der, Verweij, N. (Niek), Völker, U. (Uwe), Waldenberger, M. (Melanie), Wallentin, L.C. (Lars), Waterworth, D.M. (Dawn M.), White, H.D. (Harvey), Wilson, J.G. (James G.), Wong, T.-Y. (Tien-Yin), Woodward, M. (Mark), Yang, Q. (Qiong), Yasuda, M. (Masayuki), Yerges-Armstrong, L.M. (Laura), Zhang, Y. (Yan), Wanner, C. (Christoph), Böger, C.A. (Carsten), Köttgen, A. (Anna), Kronenberg, F. (Florian), Penninx, B.W.J.H., and Heid, I.M. (Iris)
Abstract: Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more (“Rapid3”; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea 60 mL/min/1.73m2 or more at baseline (“CKDi25”; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized varia
Published: 2021
Full Text: View/download PDF

28. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author: Gorski, M, Jung, B, Li, Y, Matias-Garcia, PR, Wuttke, M, Coassin, S, Thio, CHL, Kleber, ME, Winkler, TW, Wanner, V, Chai, JF, Chu, AY, Cocca, M, Feitosa, MF, Ghasemi, S, Hoppmann, A, Horn, K, Li, M, Nutile, T, Scholz, M, Sieber, KB, Teumer, A, Tin, A, Wang, J, Tayo, BO, Ahluwalia, TS, Almgren, P, Bakker, SJL, Banas, B, Bansal, N, Biggs, ML, Boerwinkle, E, Bottinger, EP, Brenner, H, Carroll, RJ, Chalmers, J, Chee, ML, Cheng, CY, Coresh, J, de Borst, MH, Degenhardt, F, Eckardt, KU, Endlich, K, Franke, A, Freitag-Wolf, S, Gampawar, P, Gansevoort, RT, Ghanbari, M, Gieger, C, Hamet, P, Ho, K, Hofer, E, Holleczek, B, Xian Foo, VH, Hutri-Kähönen, N, Hwang, SJ, Ikram, MA, Josyula, NS, Kähönen, M, Khor, CC, Koenig, W, Kramer, H, Krämer, BK, Kühnel, B, Lange, LA, Lehtimäki, T, Lieb, W, Alizadeh, BZ, Boezen, HM, Franke, L, van der Harst, P, Navis, G, Rots, M, Snieder, H, Swertz, M, Wolffenbuttel, BHR, Wijmenga, C, Abecasis, G, Baras, A, Cantor, M, Coppola, G, Economides, A, Lotta, LA, Overton, JD, Reid, JG, Shuldiner, A, Beechert, C, Forsythe, C, Fuller, ED, Gu, Z, Lattari, M, Lopez, A, Schleicher, TD, Padilla, MS, Toledo, K, Widom, L, Wolf, SE, Pradhan, M, Manoochehri, K, Gorski, M, Jung, B, Li, Y, Matias-Garcia, PR, Wuttke, M, Coassin, S, Thio, CHL, Kleber, ME, Winkler, TW, Wanner, V, Chai, JF, Chu, AY, Cocca, M, Feitosa, MF, Ghasemi, S, Hoppmann, A, Horn, K, Li, M, Nutile, T, Scholz, M, Sieber, KB, Teumer, A, Tin, A, Wang, J, Tayo, BO, Ahluwalia, TS, Almgren, P, Bakker, SJL, Banas, B, Bansal, N, Biggs, ML, Boerwinkle, E, Bottinger, EP, Brenner, H, Carroll, RJ, Chalmers, J, Chee, ML, Cheng, CY, Coresh, J, de Borst, MH, Degenhardt, F, Eckardt, KU, Endlich, K, Franke, A, Freitag-Wolf, S, Gampawar, P, Gansevoort, RT, Ghanbari, M, Gieger, C, Hamet, P, Ho, K, Hofer, E, Holleczek, B, Xian Foo, VH, Hutri-Kähönen, N, Hwang, SJ, Ikram, MA, Josyula, NS, Kähönen, M, Khor, CC, Koenig, W, Kramer, H, Krämer, BK, Kühnel, B, Lange, LA, Lehtimäki, T, Lieb, W, Alizadeh, BZ, Boezen, HM, Franke, L, van der Harst, P, Navis, G, Rots, M, Snieder, H, Swertz, M, Wolffenbuttel, BHR, Wijmenga, C, Abecasis, G, Baras, A, Cantor, M, Coppola, G, Economides, A, Lotta, LA, Overton, JD, Reid, JG, Shuldiner, A, Beechert, C, Forsythe, C, Fuller, ED, Gu, Z, Lattari, M, Lopez, A, Schleicher, TD, Padilla, MS, Toledo, K, Widom, L, Wolf, SE, Pradhan, M, and Manoochehri, K
Abstract: Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more (“Rapid3”; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea 60 mL/min/1.73m2 or more at baseline (“CKDi25”; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or LARP4B. Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
Published: 2021

29. Was lernen Studierende in einer klinisch-anatomischen Live Stream-Vorlesung? Eine multizentrische Studie an ausgewählten Regel- und Modellstudiengängen

Author: Shiozawa, T, Theiss, C, Scholz, M, Ödemis, V, Bräuer, A, Grosser, J, Kimmerle, J, Hirt, B, Bientzle, M, Shiozawa, T, Theiss, C, Scholz, M, Ödemis, V, Bräuer, A, Grosser, J, Kimmerle, J, Hirt, B, and Bientzle, M
Published: 2021

30. How studying medicine makes prospective physicians sick - mental health of 58 individual students at the beginning and at the end of their curricular medical education

Author: Schneider, K, Breuer, G, Scholz, M, Burger, PH, Schneider, K, Breuer, G, Scholz, M, and Burger, PH
Published: 2021

31. Erste genomweite Assoziationsstudie von 99 Körpermaßen aus 3D-Körper-Scans

Author: Kühnapfel, A, Ahnert, P, Horn, K, Kirsten, H, Löffler, M, Scholz, M, Kühnapfel, A, Ahnert, P, Horn, K, Kirsten, H, Löffler, M, and Scholz, M
Published: 2021

32. Was lernen Studierende in einer klinisch-anatomischen Live Stream-Vorlesung? Eine multizentrische Studie an ausgewählten Regel- und Modellstudiengängen

Author: Shiozawa, T, Theiss, C, Scholz, M, Ödemis, V, Bräuer, A, Grosser, J, Kimmerle, J, Hirt, B, Bientzle, M, Shiozawa, T, Theiss, C, Scholz, M, Ödemis, V, Bräuer, A, Grosser, J, Kimmerle, J, Hirt, B, and Bientzle, M
Published: 2021

33. Salutogenesis needed - resilience and sense of coherence in 1st year medical students and its association to biological gender

Author: Luibl, L, Scholz, M, Burger, PH, Luibl, L, Scholz, M, and Burger, PH
Published: 2021

34. How studying medicine makes prospective physicians sick - mental health of 58 individual students at the beginning and at the end of their curricular medical education

Author: Schneider, K, Breuer, G, Scholz, M, Burger, PH, Schneider, K, Breuer, G, Scholz, M, and Burger, PH
Published: 2021

35. Erste genomweite Assoziationsstudie von 99 Körpermaßen aus 3D-Körper-Scans

Author: Kühnapfel, A, Ahnert, P, Horn, K, Kirsten, H, Löffler, M, Scholz, M, Kühnapfel, A, Ahnert, P, Horn, K, Kirsten, H, Löffler, M, and Scholz, M
Published: 2021

36. A guided anamnesis of drug exposure via a web interface with an up-to-date drug database

Author: Schössow, J, Scholz, M, Richter, A, Schmidt, CO, Grund, T, Schössow, J, Scholz, M, Richter, A, Schmidt, CO, and Grund, T
Published: 2021

37. A guided anamnesis of drug exposure via a web interface with an up-to-date drug database

Author: Schössow, J, Scholz, M, Richter, A, Schmidt, CO, Grund, T, Schössow, J, Scholz, M, Richter, A, Schmidt, CO, and Grund, T
Published: 2021

38. The power of genetic diversity in genome-wide association studies of lipids

Author: Graham, S. E. (Sarah E.), Clarke, S. L. (Shoa L.), Wu, K. H. (Kuan-Han H.), Kanoni, S. (Stavroula), Zajac, G. J. (Greg J. M.), Ramdas, S. (Shweta), Surakka, I. (Ida), Ntalla, I. (Ioanna), Vedantam, S. (Sailaja), Winkler, T. W. (Thomas W.), Locke, A. E. (Adam E.), Marouli, E. (Eirini), Hwang, M. Y. (Mi Yeong), Han, S. (Sohee), Narita, A. (Akira), Choudhury, A. (Ananyo), Bentley, A. R. (Amy R.), Ekoru, K. (Kenneth), Verma, A. (Anurag), Trivedi, B. (Bhavi), Martin, H. C. (Hilary C.), Hunt, K. A. (Karen A.), Hui, Q. (Qin), Klarin, D. (Derek), Zhu, X. (Xiang), Thorleifsson, G. (Gudmar), Helgadottir, A. (Anna), Gudbjartsson, D. F. (Daniel F.), Holm, H. (Hilma), Olafsson, I. (Isleifur), Akiyama, M. (Masato), Sakaue, S. (Saori), Terao, C. (Chikashi), Kanai, M. (Masahiro), Zhou, W. (Wei), Brumpton, B. M. (Ben M.), Rasheed, H. (Humaira), Ruotsalainen, S. E. (Sanni E.), Havulinna, A. S. (Aki S.), Veturi, Y. (Yogasudha), Feng, Q. (QiPing), Rosenthal, E. A. (Elisabeth A.), Lingren, T. (Todd), Pacheco, J. A. (Jennifer Allen), Pendergrass, S. A. (Sarah A.), Haessler, J. (Jeffrey), Giulianini, F. (Franco), Bradford, Y. (Yuki), Miller, J. E. (Jason E.), Campbell, A. (Archie), Lin, K. (Kuang), Millwood, I. Y. (Iona Y.), Hindy, G. (George), Rasheed, A. (Asif), Faul, J. D. (Jessica D.), Zhao, W. (Wei), Weir, D. R. (David R.), Turman, C. (Constance), Huang, H. (Hongyan), Graff, M. (Mariaelisa), Mahajan, A. (Anubha), Brown, M. R. (Michael R.), Zhang, W. (Weihua), Yu, K. (Ketian), Schmidt, E. M. (Ellen M.), Pandit, A. (Anita), Gustafsson, S. (Stefan), Yin, X. (Xianyong), Luan, J. (Jian'an), Zhao, J.-H. (Jing-Hua), Matsuda, F. (Fumihiko), Jang, H.-M. (Hye-Mi), Yoon, K. (Kyungheon), Medina-Gomez, C. (Carolina), Pitsillides, A. (Achilleas), Hottenga, J. J. (Jouke Jan), Willemsen, G. (Gonneke), Wood, A. R. (Andrew R.), Ji, Y. (Yingji), Gao, Z. (Zishan), Haworth, S. (Simon), Mitchell, R. E. (Ruth E.), Chai, J. F. (Jin Fang), Aadahl, M. (Mette), Yao, J. (Jie), Manichaikul, A. (Ani), Warren, H. R. (Helen R.), Ramirez, J. (Julia), Bork-Jensen, J. (Jette), Karhus, L. L. (Line L.), Goel, A. (Anuj), Sabater-Lleal, M. (Maria), Noordam, R. (Raymond), Sidore, C. (Carlo), Fiorillo, E. (Edoardo), McDaid, A. F. (Aaron F.), Marques-Vidal, P. (Pedro), Wielscher, M. (Matthias), Trompet, S. (Stella), Sattar, N. (Naveed), Mollehave, L. T. (Line T.), Thuesen, B. H. (Betina H.), Munz, M. (Matthias), Zeng, L. (Lingyao), Huang, J. (Jianfeng), Yang, B. (Bin), Poveda, A. (Alaitz), Kurbasic, A. (Azra), Lamina, C. (Claudia), Forer, L. (Lukas), Scholz, M. (Markus), Galesloot, T. E. (Tessel E.), Bradfield, J. P. (Jonathan P.), Daw, E. W. (E. Warwick), Zmuda, J. M. (Joseph M.), Mitchell, J. S. (Jonathan S.), Fuchsberger, C. (Christian), Christensen, H. (Henry), Brody, J. A. (Jennifer A.), Feitosa, M. F. (Mary F.), Wojczynski, M. K. (Mary K.), Preuss, M. (Michael), Mangino, M. (Massimo), Christofidou, P. (Paraskevi), Verweij, N. (Niek), Benjamins, J. W. (Jan W.), Engmann, J. (Jorgen), Kember, R. L. (Rachel L.), Slieker, R. C. (Roderick C.), Lo, K. S. (Ken Sin), Zilhao, N. R. (Nuno R.), Kleber, M. E. (Marcus E.), Delgado, G. E. (Graciela E.), Huo, S. (Shaofeng), Ikeda, D. D. (Daisuke D.), Iha, H. (Hiroyuki), Yang, J. (Jian), Liu, J. (Jun), Leonard, H. L. (Hampton L.), Marten, J. (Jonathan), Schmidt, B. (Borge), Arendt, M. (Marina), Smyth, L. J. (Laura J.), Canadas-Garre, M. (Marisa), Wang, C. (Chaolong), Nakatochi, M. (Masahiro), Wong, A. (Andrew), Hutri-Kahonen, N. (Nina), Sim, X. (Xueling), Xia, R. (Rui), Huerta-Chagoya, A. (Alicia), Fernandez-Lopez, J. C. (Juan Carlos), Lyssenko, V. (Valeriya), Ahmed, M. (Meraj), Jackson, A. U. (Anne U.), Irvin, M. R. (Marguerite R.), Oldmeadow, C. (Christopher), Kim, H.-N. (Han-Na), Ryu, S. (Seungho), Timmers, P. R. (Paul R. H. J.), Arbeeva, L. (Liubov), Dorajoo, R. (Rajkumar), Lange, L. A. (Leslie A.), Chai, X. (Xiaoran), Prasad, G. (Gauri), Lores-Motta, L. (Laura), Pauper, M. (Marc), Long, J. (Jirong), Li, X. (Xiaohui), Theusch, E. (Elizabeth), Takeuchi, F. (Fumihiko), Spracklen, C. N. (Cassandra N.), Loukola, A. (Anu), Bollepalli, S. (Sailalitha), Warner, S. C. (Sophie C.), Wang, Y. X. (Ya Xing), Wei, W. B. (Wen B.), Nutile, T. (Teresa), Ruggiero, D. (Daniela), Sung, Y. J. (Yun Ju), Hung, Y.-J. (Yi-Jen), Chen, S. (Shufeng), Liu, F. (Fangchao), Yang, J. (Jingyun), Kentistou, K. A. (Katherine A.), Gorski, M. (Mathias), Brumat, M. (Marco), Meidtner, K. (Karina), Bielak, L. F. (Lawrence F.), Smith, J. A. (Jennifer A.), Hebbar, P. (Prashantha), Farmaki, A.-E. (Aliki-Eleni), Hofer, E. (Edith), Lin, M. (Maoxuan), Xue, C. (Chao), Zhang, J. (Jifeng), Concas, M. P. (Maria Pina), Vaccargiu, S. (Simona), van der Most, P. J. (Peter J.), Pitkanen, N. (Niina), Cade, B. E. (Brian E.), Lee, J. (Jiwon), van Der Laan, S. W. (Sander W.), Chitrala, K. N. (Kumaraswamy Naidu), Weiss, S. (Stefan), Zimmermann, M. E. (Martina E.), Lee, J. Y. (Jong Young), Choi, H. S. (Hyeok Sun), Nethander, M. (Maria), Freitag-Wolf, S. (Sandra), Southam, L. (Lorraine), Rayner, N. W. (Nigel W.), Wang, C. A. (Carol A.), Lin, S.-Y. (Shih-Yi), Wang, J.-S. (Jun-Sing), Couture, C. (Christian), Lyytikainen, L.-P. (Leo-Pekka), Nikus, K. (Kjell), Cuellar-Partida, G. (Gabriel), Vestergaard, H. (Henrik), Hildalgo, B. (Bertha), Giannakopoulou, O. (Olga), Cai, Q. (Qiuyin), Obura, M. O. (Morgan O.), van Setten, J. (Jessica), Li, X. (Xiaoyin), Schwander, K. (Karen), Terzikhan, N. (Natalie), Shin, J. H. (Jae Hun), Jackson, R. D. (Rebecca D.), Reiner, A. P. (Alexander P.), Martin, L. W. (Lisa Warsinger), Chen, Z. (Zhengming), Li, L. (Liming), Highland, H. M. (Heather M.), Young, K. L. (Kristin L.), Kawaguchi, T. (Takahisa), Thiery, J. (Joachim), Bis, J. C. (Joshua C.), Nadkarni, G. N. (Girish N.), Launer, L. J. (Lenore J.), Li, H. (Huaixing), Nalls, M. A. (Mike A.), Raitakari, O. T. (Olli T.), Ichihara, S. (Sahoko), Wild, S. H. (Sarah H.), Nelson, C. P. (Christopher P.), Campbell, H. (Harry), Jager, S. (Susanne), Nabika, T. (Toru), Al-Mulla, F. (Fahd), Niinikoski, H. (Harri), Braund, P. S. (Peter S.), Kolcic, I. (Ivana), Kovacs, P. (Peter), Giardoglou, T. (Tota), Katsuya, T. (Tomohiro), Bhatti, F. (Fatima), de Kleijn, D. (Dominique), de Borst, G. J. (Gert J.), Kim, E. K. (Eung Kweon), Adams, H. H. (Hieab H. H.), Ikram, M. A. (M. Arfan), Zhu, X. (Xiaofeng), Asselbergs, F. W. (Folkert W.), Kraaijeveld, A. O. (Adriaan O.), Beulens, J. W. (Joline W. J.), Shu, X.-O. (Xiao-Ou), Rallidis, L. S. (Loukianos S.), Pedersen, O. (Oluf), Hansen, T. (Torben), Mitchell, P. (Paul), Hewitt, A. W. (Alex W.), Kahonen, M. (Mika), Perusse, L. (Louis), Bouchard, C. (Claude), Tonjes, A. (Anke), Chen, Y. I. (Yii-Der Ida), Pennell, C. E. (Craig E.), Mori, T. A. (Trevor A.), Lieb, W. (Wolfgang), Franke, A. (Andre), Ohlsson, C. (Claes), Mellstrom, D. (Dan), Cho, Y. S. (Yoon Shin), Lee, H. (Hyejin), Yuan, J.-M. (Jian-Min), Koh, W.-P. (Woon-Puay), Rhee, S. Y. (Sang Youl), Woo, J.-T. (Jeong-Taek), Heid, I. M. (Iris M.), Stark, K. J. (Klaus J.), Volzke, H. (Henry), Homuth, G. (Georg), Evans, M. K. (Michele K.), Zonderman, A. B. (Alan B.), Polasek, O. (Ozren), Pasterkamp, G. (Gerard), Hoefer, I. E. (Imo E.), Redline, S. (Susan), Pahkala, K. (Katja), Oldehinkel, A. J. (Albertine J.), Snieder, H. (Harold), Biino, G. (Ginevra), Schmidt, R. (Reinhold), Schmidt, H. (Helena), Chen, Y. E. (Y. Eugene), Bandinelli, S. (Stefania), Dedoussis, G. (George), Thanaraj, T. A. (Thangavel Alphonse), Kardia, S. L. (Sharon L. R.), Kato, N. (Norihiro), Schulze, M. B. (Matthias B.), Girotto, G. (Giorgia), Jung, B. (Bettina), Boger, C. A. (Carsten A.), Joshi, P. K. (Peter K.), Bennett, D. A. (David A.), De Jager, P. L. (Philip L.), Lu, X. (Xiangfeng), Mamakou, V. (Vasiliki), Brown, M. (Morris), Caulfield, M. J. (Mark J.), Munroe, P. B. (Patricia B.), Guo, X. (Xiuqing), Ciullo, M. (Marina), Jonas, J. B. (Jost B.), Samani, N. J. (Nilesh J.), Kaprio, J. (Jaakko), Pajukanta, P. (Paivi), Adair, L. S. (Linda S.), Bechayda, S. A. (Sonny Augustin), de Silva, H. J. (H. Janaka), Wickremasinghe, A. R. (Ananda R.), Krauss, R. M. (Ronald M.), Wu, J.-Y. (Jer-Yuarn), Zheng, W. (Wei), den Hollander, A. I. (Anneke, I), Bharadwaj, D. (Dwaipayan), Correa, A. (Adolfo), Wilson, J. G. (James G.), Lind, L. (Lars), Heng, C.-K. (Chew-Kiat), Nelson, A. E. (Amanda E.), Golightly, Y. M. (Yvonne M.), Wilson, J. F. (James F.), Penninx, B. (Brenda), Kim, H.-L. (Hyung-Lae), Attia, J. (John), Scott, R. J. (Rodney J.), Rao, D. C. (D. C.), Arnett, D. K. (Donna K.), Walker, M. (Mark), Koistinen, H. A. (Heikki A.), Chandak, G. R. (Giriraj R.), Yajnik, C. S. (Chittaranjan S.), Mercader, J. M. (Josep M.), Tusie-Luna, T. (Teresa), Aguilar-Salinas, C. A. (Carlos A.), Villalpando, C. G. (Clicerio Gonzalez), Orozco, L. (Lorena), Fornage, M. (Myriam), Tai, E. S. (E. Shyong), van Dam, R. M. (Rob M.), Lehtimaki, T. (Terho), Chaturvedi, N. (Nish), Yokota, M. (Mitsuhiro), Liu, J. (Jianjun), Reilly, D. F. (Dermot F.), McKnight, A. J. (Amy Jayne), Kee, F. (Frank), Jockel, K.-H. (Karl-Heinz), McCarthy, M. I. (Mark, I), Palmer, C. N. (Colin N. A.), Vitart, V. (Veronique), Hayward, C. (Caroline), Simonsick, E. (Eleanor), van Duijn, C. M. (Cornelia M.), Lu, F. (Fan), Qu, J. (Jia), Hishigaki, H. (Haretsugu), Lin, X. (Xu), Marz, W. (Winfried), Parra, E. J. (Esteban J.), Cruz, M. (Miguel), Gudnason, V. (Vilmundur), Tardif, J.-C. (Jean-Claude), Lettre, G. (Guillaume), Elders, P. J. (Petra J. M.), Damrauer, S. M. (Scott M.), Kumari, M. (Meena), Kivimaki, M. (Mika), van der Harst, P. (Pim), Spector, T. D. (Tim D.), Loos, R. J. (Ruth J. F.), Province, M. A. (Michael A.), Psaty, B. M. (Bruce M.), Brandslund, I. (Ivan), Pramstaller, P. P. (Peter P.), Christensen, K. (Kaare), Ripatti, S. (Samuli), Widen, E. (Elisabeth), Hakonarson, H. (Hakon), Grant, S. F. (Struan F. A.), Kiemeney, L. A. (Lambertus A. L. M.), de Graaf, J. (Jacqueline), Loeffler, M. (Markus), Kronenberg, F. (Florian), Gu, D. (Dongfeng), Erdmann, J. (Jeanette), Schunkert, H. (Heribert), Franks, P. W. (Paul W.), Linneberg, A. (Allan), Jukema, J. W. (J. Wouter), Khera, A. V. (Amit, V), Männikkö, M. (Minna), Järvelin, M.-R. (Marjo-Riitta), Kutalik, Z. (Zoltan), Cucca, F. (Francesco), Mook-Kanamori, D. O. (Dennis O.), van Dijk, K. W. (Ko Willems), Watkins, H. (Hugh), Strachan, D. P. (David P.), Grarup, N. (Niels), Sever, P. (Peter), Poulter, N. (Neil), Rotter, J. I. (Jerome, I), Dantoft, T. M. (Thomas M.), Karpe, F. (Fredrik), Neville, M. J. (Matt J.), Timpson, N. J. (Nicholas J.), Cheng, C.-Y. (Ching-Yu), Wong, T.-Y. (Tien-Yin), Khor, C. C. (Chiea Chuen), Sabanayagam, C. (Charumathi), Peters, A. (Annette), Gieger, C. (Christian), Hattersley, A. T. (Andrew T.), Pedersen, N. L. (Nancy L.), Magnusson, P. K. (Patrik K. E.), Boomsma, D. I. (Dorret, I), de Geus, E. J. (Eco J. C.), Cupples, L. A. (L. Adrienne), van Meurs, J. B. (Joyce B. J.), Ghanbari, M. (Mohsen), Rsen, P. G. (Penny Gordon-La), Huang, W. (Wei), Kim, Y. J. (Young Jin), Tabara, Y. (Yasuharu), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Zeggini, E. (Eleftheria), Kuusisto, J. (Johanna), Laakso, M. (Markku), Ingelsson, E. (Erik), Abecasis, G. (Goncalo), Chambers, J. C. (John C.), Kooner, J. S. (Jaspal S.), de Vries, P. S. (Paul S.), Morrison, A. C. (Alanna C.), North, K. E. (Kari E.), Daviglus, M. (Martha), Kraft, P. (Peter), Martin, N. G. (Nicholas G.), Whitfield, J. B. (John B.), Abbas, S. (Shahid), Saleheen, D. (Danish), Walters, R. G. (Robin G.), Holmes, M. V. (Michael, V), Black, C. (Corri), Smith, B. H. (Blair H.), Justice, A. E. (Anne E.), Baras, A. (Aris), Buring, J. E. (Julie E.), Ridker, P. M. (Paul M.), Chasman, D. I. (Daniel, I), Kooperberg, C. (Charles), Wei, W.-Q. (Wei-Qi), Jarvik, G. P. (Gail P.), Namjou, B. (Bahram), Hayes, M. G. (M. Geoffrey), Ritchie, M. D. (Marylyn D.), Jousilahti, P. (Pekka), Salomaa, V. (Veikko), Hveem, K. (Kristian), Asvold, B. O. (Bjorn Olav), Kubo, M. (Michiaki), Kamatani, Y. (Yoichiro), Okada, Y. (Yukinori), Murakami, Y. (Yoshinori), Thorsteinsdottir, U. (Unnur), Stefansson, K. (Kari), Ho, Y.-L. (Yuk-Lam), Lynch, J. A. (Julie A.), Rader, D. J. (Daniel J.), Tsao, P. S. (Philip S.), Chang, K.-M. (Kyong-Mi), Cho, K. (Kelly), O'Donnell, C. J. (Christopher J.), Gaziano, J. M. (John M.), Wilson, P. (Peter), Rotimi, C. N. (Charles N.), Hazelhurst, S. (Scott), Ramsay, M. (Michele), Trembath, R. C. (Richard C.), van Heel, D. A. (David A.), Tamiya, G. (Gen), Yamamoto, M. (Masayuki), Kim, B.-J. (Bong-Jo), Mohlke, K. L. (Karen L.), Frayling, T. M. (Timothy M.), Hirschhorn, J. N. (Joel N.), Kathiresan, S. (Sekar), Boehnke, M. (Michael), Natarajan, P. (Pradeep), Peloso, G. M. (Gina M.), Brown, C. D. (Christopher D.), Morris, A. P. (Andrew P.), Assimes, T. L. (Themistocles L.), Deloukas, P. (Panos), Sun, Y. V. (Yan, V), Willer, C. J. (Cristen J.), Graham, S. E. (Sarah E.), Clarke, S. L. (Shoa L.), Wu, K. H. (Kuan-Han H.), Kanoni, S. (Stavroula), Zajac, G. J. (Greg J. M.), Ramdas, S. (Shweta), Surakka, I. (Ida), Ntalla, I. (Ioanna), Vedantam, S. (Sailaja), Winkler, T. W. (Thomas W.), Locke, A. E. (Adam E.), Marouli, E. (Eirini), Hwang, M. Y. (Mi Yeong), Han, S. (Sohee), Narita, A. (Akira), Choudhury, A. (Ananyo), Bentley, A. R. (Amy R.), Ekoru, K. (Kenneth), Verma, A. (Anurag), Trivedi, B. (Bhavi), Martin, H. C. (Hilary C.), Hunt, K. A. (Karen A.), Hui, Q. (Qin), Klarin, D. (Derek), Zhu, X. (Xiang), Thorleifsson, G. (Gudmar), Helgadottir, A. (Anna), Gudbjartsson, D. F. (Daniel F.), Holm, H. (Hilma), Olafsson, I. (Isleifur), Akiyama, M. (Masato), Sakaue, S. (Saori), Terao, C. (Chikashi), Kanai, M. (Masahiro), Zhou, W. (Wei), Brumpton, B. M. (Ben M.), Rasheed, H. (Humaira), Ruotsalainen, S. E. (Sanni E.), Havulinna, A. S. (Aki S.), Veturi, Y. (Yogasudha), Feng, Q. (QiPing), Rosenthal, E. A. (Elisabeth A.), Lingren, T. (Todd), Pacheco, J. A. (Jennifer Allen), Pendergrass, S. A. (Sarah A.), Haessler, J. (Jeffrey), Giulianini, F. (Franco), Bradford, Y. (Yuki), Miller, J. E. (Jason E.), Campbell, A. (Archie), Lin, K. (Kuang), Millwood, I. Y. (Iona Y.), Hindy, G. (George), Rasheed, A. (Asif), Faul, J. D. (Jessica D.), Zhao, W. (Wei), Weir, D. R. (David R.), Turman, C. (Constance), Huang, H. (Hongyan), Graff, M. (Mariaelisa), Mahajan, A. (Anubha), Brown, M. R. (Michael R.), Zhang, W. (Weihua), Yu, K. (Ketian), Schmidt, E. M. (Ellen M.), Pandit, A. (Anita), Gustafsson, S. (Stefan), Yin, X. (Xianyong), Luan, J. (Jian'an), Zhao, J.-H. (Jing-Hua), Matsuda, F. (Fumihiko), Jang, H.-M. (Hye-Mi), Yoon, K. (Kyungheon), Medina-Gomez, C. (Carolina), Pitsillides, A. (Achilleas), Hottenga, J. J. (Jouke Jan), Willemsen, G. (Gonneke), Wood, A. R. (Andrew R.), Ji, Y. (Yingji), Gao, Z. (Zishan), Haworth, S. (Simon), Mitchell, R. E. (Ruth E.), Chai, J. F. (Jin Fang), Aadahl, M. (Mette), Yao, J. (Jie), Manichaikul, A. (Ani), Warren, H. R. (Helen R.), Ramirez, J. (Julia), Bork-Jensen, J. (Jette), Karhus, L. L. (Line L.), Goel, A. (Anuj), Sabater-Lleal, M. (Maria), Noordam, R. (Raymond), Sidore, C. (Carlo), Fiorillo, E. (Edoardo), McDaid, A. F. (Aaron F.), Marques-Vidal, P. (Pedro), Wielscher, M. (Matthias), Trompet, S. (Stella), Sattar, N. (Naveed), Mollehave, L. T. (Line T.), Thuesen, B. H. (Betina H.), Munz, M. (Matthias), Zeng, L. (Lingyao), Huang, J. (Jianfeng), Yang, B. (Bin), Poveda, A. (Alaitz), Kurbasic, A. (Azra), Lamina, C. (Claudia), Forer, L. (Lukas), Scholz, M. (Markus), Galesloot, T. E. (Tessel E.), Bradfield, J. P. (Jonathan P.), Daw, E. W. (E. Warwick), Zmuda, J. M. (Joseph M.), Mitchell, J. S. (Jonathan S.), Fuchsberger, C. (Christian), Christensen, H. (Henry), Brody, J. A. (Jennifer A.), Feitosa, M. F. (Mary F.), Wojczynski, M. K. (Mary K.), Preuss, M. (Michael), Mangino, M. (Massimo), Christofidou, P. (Paraskevi), Verweij, N. (Niek), Benjamins, J. W. (Jan W.), Engmann, J. (Jorgen), Kember, R. L. (Rachel L.), Slieker, R. C. (Roderick C.), Lo, K. S. (Ken Sin), Zilhao, N. R. (Nuno R.), Kleber, M. E. (Marcus E.), Delgado, G. E. (Graciela E.), Huo, S. (Shaofeng), Ikeda, D. D. (Daisuke D.), Iha, H. (Hiroyuki), Yang, J. (Jian), Liu, J. (Jun), Leonard, H. L. (Hampton L.), Marten, J. (Jonathan), Schmidt, B. (Borge), Arendt, M. (Marina), Smyth, L. J. (Laura J.), Canadas-Garre, M. (Marisa), Wang, C. (Chaolong), Nakatochi, M. (Masahiro), Wong, A. (Andrew), Hutri-Kahonen, N. (Nina), Sim, X. (Xueling), Xia, R. (Rui), Huerta-Chagoya, A. (Alicia), Fernandez-Lopez, J. C. (Juan Carlos), Lyssenko, V. (Valeriya), Ahmed, M. (Meraj), Jackson, A. U. (Anne U.), Irvin, M. R. (Marguerite R.), Oldmeadow, C. (Christopher), Kim, H.-N. (Han-Na), Ryu, S. (Seungho), Timmers, P. R. (Paul R. H. J.), Arbeeva, L. (Liubov), Dorajoo, R. (Rajkumar), Lange, L. A. (Leslie A.), Chai, X. (Xiaoran), Prasad, G. (Gauri), Lores-Motta, L. (Laura), Pauper, M. (Marc), Long, J. (Jirong), Li, X. (Xiaohui), Theusch, E. (Elizabeth), Takeuchi, F. (Fumihiko), Spracklen, C. N. (Cassandra N.), Loukola, A. (Anu), Bollepalli, S. (Sailalitha), Warner, S. C. (Sophie C.), Wang, Y. X. (Ya Xing), Wei, W. B. (Wen B.), Nutile, T. (Teresa), Ruggiero, D. (Daniela), Sung, Y. J. (Yun Ju), Hung, Y.-J. (Yi-Jen), Chen, S. (Shufeng), Liu, F. (Fangchao), Yang, J. (Jingyun), Kentistou, K. A. (Katherine A.), Gorski, M. (Mathias), Brumat, M. (Marco), Meidtner, K. (Karina), Bielak, L. F. (Lawrence F.), Smith, J. A. (Jennifer A.), Hebbar, P. (Prashantha), Farmaki, A.-E. (Aliki-Eleni), Hofer, E. (Edith), Lin, M. (Maoxuan), Xue, C. (Chao), Zhang, J. (Jifeng), Concas, M. P. (Maria Pina), Vaccargiu, S. (Simona), van der Most, P. J. (Peter J.), Pitkanen, N. (Niina), Cade, B. E. (Brian E.), Lee, J. (Jiwon), van Der Laan, S. W. (Sander W.), Chitrala, K. N. (Kumaraswamy Naidu), Weiss, S. (Stefan), Zimmermann, M. E. (Martina E.), Lee, J. Y. (Jong Young), Choi, H. S. (Hyeok Sun), Nethander, M. (Maria), Freitag-Wolf, S. (Sandra), Southam, L. (Lorraine), Rayner, N. W. (Nigel W.), Wang, C. A. (Carol A.), Lin, S.-Y. (Shih-Yi), Wang, J.-S. (Jun-Sing), Couture, C. (Christian), Lyytikainen, L.-P. (Leo-Pekka), Nikus, K. (Kjell), Cuellar-Partida, G. (Gabriel), Vestergaard, H. (Henrik), Hildalgo, B. (Bertha), Giannakopoulou, O. (Olga), Cai, Q. (Qiuyin), Obura, M. O. (Morgan O.), van Setten, J. (Jessica), Li, X. (Xiaoyin), Schwander, K. (Karen), Terzikhan, N. (Natalie), Shin, J. H. (Jae Hun), Jackson, R. D. (Rebecca D.), Reiner, A. P. (Alexander P.), Martin, L. W. (Lisa Warsinger), Chen, Z. (Zhengming), Li, L. (Liming), Highland, H. M. (Heather M.), Young, K. L. (Kristin L.), Kawaguchi, T. (Takahisa), Thiery, J. (Joachim), Bis, J. C. (Joshua C.), Nadkarni, G. N. (Girish N.), Launer, L. J. (Lenore J.), Li, H. (Huaixing), Nalls, M. A. (Mike A.), Raitakari, O. T. (Olli T.), Ichihara, S. (Sahoko), Wild, S. H. (Sarah H.), Nelson, C. P. (Christopher P.), Campbell, H. (Harry), Jager, S. (Susanne), Nabika, T. (Toru), Al-Mulla, F. (Fahd), Niinikoski, H. (Harri), Braund, P. S. (Peter S.), Kolcic, I. (Ivana), Kovacs, P. (Peter), Giardoglou, T. (Tota), Katsuya, T. (Tomohiro), Bhatti, F. (Fatima), de Kleijn, D. (Dominique), de Borst, G. J. (Gert J.), Kim, E. K. (Eung Kweon), Adams, H. H. (Hieab H. H.), Ikram, M. A. (M. Arfan), Zhu, X. (Xiaofeng), Asselbergs, F. W. (Folkert W.), Kraaijeveld, A. O. (Adriaan O.), Beulens, J. W. (Joline W. J.), Shu, X.-O. (Xiao-Ou), Rallidis, L. S. (Loukianos S.), Pedersen, O. (Oluf), Hansen, T. (Torben), Mitchell, P. (Paul), Hewitt, A. W. (Alex W.), Kahonen, M. (Mika), Perusse, L. (Louis), Bouchard, C. (Claude), Tonjes, A. (Anke), Chen, Y. I. (Yii-Der Ida), Pennell, C. E. (Craig E.), Mori, T. A. (Trevor A.), Lieb, W. (Wolfgang), Franke, A. (Andre), Ohlsson, C. (Claes), Mellstrom, D. (Dan), Cho, Y. S. (Yoon Shin), Lee, H. (Hyejin), Yuan, J.-M. (Jian-Min), Koh, W.-P. (Woon-Puay), Rhee, S. Y. (Sang Youl), Woo, J.-T. (Jeong-Taek), Heid, I. M. (Iris M.), Stark, K. J. (Klaus J.), Volzke, H. (Henry), Homuth, G. (Georg), Evans, M. K. (Michele K.), Zonderman, A. B. (Alan B.), Polasek, O. (Ozren), Pasterkamp, G. (Gerard), Hoefer, I. E. (Imo E.), Redline, S. (Susan), Pahkala, K. (Katja), Oldehinkel, A. J. (Albertine J.), Snieder, H. (Harold), Biino, G. (Ginevra), Schmidt, R. (Reinhold), Schmidt, H. (Helena), Chen, Y. E. (Y. Eugene), Bandinelli, S. (Stefania), Dedoussis, G. (George), Thanaraj, T. A. (Thangavel Alphonse), Kardia, S. L. (Sharon L. R.), Kato, N. (Norihiro), Schulze, M. B. (Matthias B.), Girotto, G. (Giorgia), Jung, B. (Bettina), Boger, C. A. (Carsten A.), Joshi, P. K. (Peter K.), Bennett, D. A. (David A.), De Jager, P. L. (Philip L.), Lu, X. (Xiangfeng), Mamakou, V. (Vasiliki), Brown, M. (Morris), Caulfield, M. J. (Mark J.), Munroe, P. B. (Patricia B.), Guo, X. (Xiuqing), Ciullo, M. (Marina), Jonas, J. B. (Jost B.), Samani, N. J. (Nilesh J.), Kaprio, J. (Jaakko), Pajukanta, P. (Paivi), Adair, L. S. (Linda S.), Bechayda, S. A. (Sonny Augustin), de Silva, H. J. (H. Janaka), Wickremasinghe, A. R. (Ananda R.), Krauss, R. M. (Ronald M.), Wu, J.-Y. (Jer-Yuarn), Zheng, W. (Wei), den Hollander, A. I. (Anneke, I), Bharadwaj, D. (Dwaipayan), Correa, A. (Adolfo), Wilson, J. G. (James G.), Lind, L. (Lars), Heng, C.-K. (Chew-Kiat), Nelson, A. E. (Amanda E.), Golightly, Y. M. (Yvonne M.), Wilson, J. F. (James F.), Penninx, B. (Brenda), Kim, H.-L. (Hyung-Lae), Attia, J. (John), Scott, R. J. (Rodney J.), Rao, D. C. (D. C.), Arnett, D. K. (Donna K.), Walker, M. (Mark), Koistinen, H. A. (Heikki A.), Chandak, G. R. (Giriraj R.), Yajnik, C. S. (Chittaranjan S.), Mercader, J. M. (Josep M.), Tusie-Luna, T. (Teresa), Aguilar-Salinas, C. A. (Carlos A.), Villalpando, C. G. (Clicerio Gonzalez), Orozco, L. (Lorena), Fornage, M. (Myriam), Tai, E. S. (E. Shyong), van Dam, R. M. (Rob M.), Lehtimaki, T. (Terho), Chaturvedi, N. (Nish), Yokota, M. (Mitsuhiro), Liu, J. (Jianjun), Reilly, D. F. (Dermot F.), McKnight, A. J. (Amy Jayne), Kee, F. (Frank), Jockel, K.-H. (Karl-Heinz), McCarthy, M. I. (Mark, I), Palmer, C. N. (Colin N. A.), Vitart, V. (Veronique), Hayward, C. (Caroline), Simonsick, E. (Eleanor), van Duijn, C. M. (Cornelia M.), Lu, F. (Fan), Qu, J. (Jia), Hishigaki, H. (Haretsugu), Lin, X. (Xu), Marz, W. (Winfried), Parra, E. J. (Esteban J.), Cruz, M. (Miguel), Gudnason, V. (Vilmundur), Tardif, J.-C. (Jean-Claude), Lettre, G. (Guillaume), Elders, P. J. (Petra J. M.), Damrauer, S. M. (Scott M.), Kumari, M. (Meena), Kivimaki, M. (Mika), van der Harst, P. (Pim), Spector, T. D. (Tim D.), Loos, R. J. (Ruth J. F.), Province, M. A. (Michael A.), Psaty, B. M. (Bruce M.), Brandslund, I. (Ivan), Pramstaller, P. P. (Peter P.), Christensen, K. (Kaare), Ripatti, S. (Samuli), Widen, E. (Elisabeth), Hakonarson, H. (Hakon), Grant, S. F. (Struan F. A.), Kiemeney, L. A. (Lambertus A. L. M.), de Graaf, J. (Jacqueline), Loeffler, M. (Markus), Kronenberg, F. (Florian), Gu, D. (Dongfeng), Erdmann, J. (Jeanette), Schunkert, H. (Heribert), Franks, P. W. (Paul W.), Linneberg, A. (Allan), Jukema, J. W. (J. Wouter), Khera, A. V. (Amit, V), Männikkö, M. (Minna), Järvelin, M.-R. (Marjo-Riitta), Kutalik, Z. (Zoltan), Cucca, F. (Francesco), Mook-Kanamori, D. O. (Dennis O.), van Dijk, K. W. (Ko Willems), Watkins, H. (Hugh), Strachan, D. P. (David P.), Grarup, N. (Niels), Sever, P. (Peter), Poulter, N. (Neil), Rotter, J. I. (Jerome, I), Dantoft, T. M. (Thomas M.), Karpe, F. (Fredrik), Neville, M. J. (Matt J.), Timpson, N. J. (Nicholas J.), Cheng, C.-Y. (Ching-Yu), Wong, T.-Y. (Tien-Yin), Khor, C. C. (Chiea Chuen), Sabanayagam, C. (Charumathi), Peters, A. (Annette), Gieger, C. (Christian), Hattersley, A. T. (Andrew T.), Pedersen, N. L. (Nancy L.), Magnusson, P. K. (Patrik K. E.), Boomsma, D. I. (Dorret, I), de Geus, E. J. (Eco J. C.), Cupples, L. A. (L. Adrienne), van Meurs, J. B. (Joyce B. J.), Ghanbari, M. (Mohsen), Rsen, P. G. (Penny Gordon-La), Huang, W. (Wei), Kim, Y. J. (Young Jin), Tabara, Y. (Yasuharu), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Zeggini, E. (Eleftheria), Kuusisto, J. (Johanna), Laakso, M. (Markku), Ingelsson, E. (Erik), Abecasis, G. (Goncalo), Chambers, J. C. (John C.), Kooner, J. S. (Jaspal S.), de Vries, P. S. (Paul S.), Morrison, A. C. (Alanna C.), North, K. E. (Kari E.), Daviglus, M. (Martha), Kraft, P. (Peter), Martin, N. G. (Nicholas G.), Whitfield, J. B. (John B.), Abbas, S. (Shahid), Saleheen, D. (Danish), Walters, R. G. (Robin G.), Holmes, M. V. (Michael, V), Black, C. (Corri), Smith, B. H. (Blair H.), Justice, A. E. (Anne E.), Baras, A. (Aris), Buring, J. E. (Julie E.), Ridker, P. M. (Paul M.), Chasman, D. I. (Daniel, I), Kooperberg, C. (Charles), Wei, W.-Q. (Wei-Qi), Jarvik, G. P. (Gail P.), Namjou, B. (Bahram), Hayes, M. G. (M. Geoffrey), Ritchie, M. D. (Marylyn D.), Jousilahti, P. (Pekka), Salomaa, V. (Veikko), Hveem, K. (Kristian), Asvold, B. O. (Bjorn Olav), Kubo, M. (Michiaki), Kamatani, Y. (Yoichiro), Okada, Y. (Yukinori), Murakami, Y. (Yoshinori), Thorsteinsdottir, U. (Unnur), Stefansson, K. (Kari), Ho, Y.-L. (Yuk-Lam), Lynch, J. A. (Julie A.), Rader, D. J. (Daniel J.), Tsao, P. S. (Philip S.), Chang, K.-M. (Kyong-Mi), Cho, K. (Kelly), O'Donnell, C. J. (Christopher J.), Gaziano, J. M. (John M.), Wilson, P. (Peter), Rotimi, C. N. (Charles N.), Hazelhurst, S. (Scott), Ramsay, M. (Michele), Trembath, R. C. (Richard C.), van Heel, D. A. (David A.), Tamiya, G. (Gen), Yamamoto, M. (Masayuki), Kim, B.-J. (Bong-Jo), Mohlke, K. L. (Karen L.), Frayling, T. M. (Timothy M.), Hirschhorn, J. N. (Joel N.), Kathiresan, S. (Sekar), Boehnke, M. (Michael), Natarajan, P. (Pradeep), Peloso, G. M. (Gina M.), Brown, C. D. (Christopher D.), Morris, A. P. (Andrew P.), Assimes, T. L. (Themistocles L.), Deloukas, P. (Panos), Sun, Y. V. (Yan, V), and Willer, C. J. (Cristen J.)
Abstract: Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels2, heart disease remains the leading cause of death worldwide3. Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS4‐23 have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns24. Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine25, we anticipate that increased diversity of participants will lead to more accurate and equitable26 application of polygenic scores in clinical practice.
Published: 2021

39. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Author: Vosa, U. (Urmo), Claringbould, A. (Annique), Westra, H.-J. (Harm-Jan), Bonder, M. J. (Marc Jan), Deelen, P. (Patrick), Zeng, B. (Biao), Kirsten, H. (Holger), Saha, A. (Ashis), Kreuzhuber, R. (Roman), Yazar, S. (Seyhan), Brugge, H. (Harm), Oelen, R. (Roy), de Vries, D. H. (Dylan H.), van der Wijst, M. G. (Monique G. P.), Kasela, S. (Silva), Pervjakova, N. (Natalia), Alves, I. (Isabel), Fave, M.-J. (Marie-Julie), Agbessi, M. (Mawusse), Christiansen, M. W. (Mark W.), Jansen, R. (Rick), Seppala, I. (Ilkka), Tong, L. (Lin), Teumer, A. (Alexander), Schramm, K. (Katharina), Hemani, G. (Gibran), Verlouw, J. (Joost), Yaghootkar, H. (Hanieh), Flitman, R. S. (Reyhan Sonmez), Brown, A. (Andrew), Kukushkina, V. (Viktorija), Kalnapenkis, A. (Anette), Rueger, S. (Sina), Porcu, E. (Eleonora), Kronberg, J. (Jaanika), Kettunen, J. (Johannes), Lee, B. (Bernett), Zhang, F. (Futao), Qi, T. (Ting), Hernandez, J. A. (Jose Alquicira), Arindrarto, W. (Wibowo), Beutner, F. (Frank), Dmitrieva, J. (Julia), Elansary, M. (Mahmoud), Fairfax, B. P. (Benjamin P.), Georges, M. (Michel), Heijmans, B. T. (Bastiaan T.), Hewitt, A. W. (Alex W.), Kahonen, M. (Mika), Kim, Y. (Yungil), Knight, J. C. (Julian C.), Kovacs, P. (Peter), Krohn, K. (Knut), Li, S. (Shuang), Loeffler, M. (Markus), Marigorta, U. M. (Urko M.), Mei, H. (Hailang), Momozawa, Y. (Yukihide), Mueller-Nurasyid, M. (Martina), Nauck, M. (Matthias), Nivard, M. G. (Michel G.), Penninx, B. W. (Brenda W. J. H.), Pritchard, J. K. (Jonathan K.), Raitakari, O. T. (Olli T.), Rotzschke, O. (Olaf), Slagboom, E. P. (Eline P.), Stehouwer, C. D. (Coen D. A.), Stumvoll, M. (Michael), Sullivan, P. (Patrick), Thiery, J. (Joachim), Tonjes, A. (Anke), van Dongen, J. (Jenny), van Iterson, M. (Maarten), Veldink, J. H. (Jan H.), Voelker, U. (Uwe), Warmerdam, R. (Robert), Wijmenga, C. (Cisca), Swertz, M. (Morris), Andiappan, A. (Anand), Montgomery, G. W. (Grant W.), Ripatti, S. (Samuli), Perola, M. (Markus), Kutalik, Z. (Zoltan), Dermitzakis, E. (Emmanouil), Bergmann, S. (Sven), Frayling, T. (Timothy), van Meurs, J. (Joyce), Prokisch, H. (Holger), Ahsan, H. (Habibul), Pierce, B. L. (Brandon L.), Lehtimaki, T. (Terho), Boomsma, D. I. (Dorret, I), Psaty, B. M. (Bruce M.), Gharib, S. A. (Sina A.), Awadalla, P. (Philip), Milani, L. (Lili), Ouwehand, W. H. (Willem H.), Downes, K. (Kate), Stegle, O. (Oliver), Battle, A. (Alexis), Visscher, P. M. (Peter M.), Yang, J. (Jian), Scholz, M. (Markus), Powell, J. (Joseph), Gibson, G. (Greg), Esko, T. (Tonu), Franke, L. (Lude), Vosa, U. (Urmo), Claringbould, A. (Annique), Westra, H.-J. (Harm-Jan), Bonder, M. J. (Marc Jan), Deelen, P. (Patrick), Zeng, B. (Biao), Kirsten, H. (Holger), Saha, A. (Ashis), Kreuzhuber, R. (Roman), Yazar, S. (Seyhan), Brugge, H. (Harm), Oelen, R. (Roy), de Vries, D. H. (Dylan H.), van der Wijst, M. G. (Monique G. P.), Kasela, S. (Silva), Pervjakova, N. (Natalia), Alves, I. (Isabel), Fave, M.-J. (Marie-Julie), Agbessi, M. (Mawusse), Christiansen, M. W. (Mark W.), Jansen, R. (Rick), Seppala, I. (Ilkka), Tong, L. (Lin), Teumer, A. (Alexander), Schramm, K. (Katharina), Hemani, G. (Gibran), Verlouw, J. (Joost), Yaghootkar, H. (Hanieh), Flitman, R. S. (Reyhan Sonmez), Brown, A. (Andrew), Kukushkina, V. (Viktorija), Kalnapenkis, A. (Anette), Rueger, S. (Sina), Porcu, E. (Eleonora), Kronberg, J. (Jaanika), Kettunen, J. (Johannes), Lee, B. (Bernett), Zhang, F. (Futao), Qi, T. (Ting), Hernandez, J. A. (Jose Alquicira), Arindrarto, W. (Wibowo), Beutner, F. (Frank), Dmitrieva, J. (Julia), Elansary, M. (Mahmoud), Fairfax, B. P. (Benjamin P.), Georges, M. (Michel), Heijmans, B. T. (Bastiaan T.), Hewitt, A. W. (Alex W.), Kahonen, M. (Mika), Kim, Y. (Yungil), Knight, J. C. (Julian C.), Kovacs, P. (Peter), Krohn, K. (Knut), Li, S. (Shuang), Loeffler, M. (Markus), Marigorta, U. M. (Urko M.), Mei, H. (Hailang), Momozawa, Y. (Yukihide), Mueller-Nurasyid, M. (Martina), Nauck, M. (Matthias), Nivard, M. G. (Michel G.), Penninx, B. W. (Brenda W. J. H.), Pritchard, J. K. (Jonathan K.), Raitakari, O. T. (Olli T.), Rotzschke, O. (Olaf), Slagboom, E. P. (Eline P.), Stehouwer, C. D. (Coen D. A.), Stumvoll, M. (Michael), Sullivan, P. (Patrick), Thiery, J. (Joachim), Tonjes, A. (Anke), van Dongen, J. (Jenny), van Iterson, M. (Maarten), Veldink, J. H. (Jan H.), Voelker, U. (Uwe), Warmerdam, R. (Robert), Wijmenga, C. (Cisca), Swertz, M. (Morris), Andiappan, A. (Anand), Montgomery, G. W. (Grant W.), Ripatti, S. (Samuli), Perola, M. (Markus), Kutalik, Z. (Zoltan), Dermitzakis, E. (Emmanouil), Bergmann, S. (Sven), Frayling, T. (Timothy), van Meurs, J. (Joyce), Prokisch, H. (Holger), Ahsan, H. (Habibul), Pierce, B. L. (Brandon L.), Lehtimaki, T. (Terho), Boomsma, D. I. (Dorret, I), Psaty, B. M. (Bruce M.), Gharib, S. A. (Sina A.), Awadalla, P. (Philip), Milani, L. (Lili), Ouwehand, W. H. (Willem H.), Downes, K. (Kate), Stegle, O. (Oliver), Battle, A. (Alexis), Visscher, P. M. (Peter M.), Yang, J. (Jian), Scholz, M. (Markus), Powell, J. (Joseph), Gibson, G. (Greg), Esko, T. (Tonu), and Franke, L. (Lude)
Abstract: Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium. We detected cis-eQTL for 88% of genes, and these were replicable in numerous tissues. Distal trans-eQTL (detected for 37% of 10,317 trait-associated variants tested) showed lower replication rates, partially due to low replication power and confounding by cell type composition. However, replication analyses in single-cell RNA-seq data prioritized intracellular trans-eQTL. Trans-eQTL exerted their effects via several mechanisms, primarily through regulation by transcription factors. Expression of 13% of the genes correlated with polygenic scores for 1,263 phenotypes, pinpointing potential drivers for those traits. In summary, this work represents a large eQTL resource, and its results serve as a starting point for in-depth interpretation of complex phenotypes.
Published: 2021

40. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author: Gorski, M, Jung, B, Li, Y, Matias-Garcia, PR, Wuttke, M, Coassin, S, Thio, CHL, Kleber, ME, Winkler, TW, Wanner, V, Chai, JF, Chu, AY, Cocca, M, Feitosa, MF, Ghasemi, S, Hoppmann, A, van der Horn, K, Li, M, Nutile, T, Scholz, M (Markus), Sieber, KB, Teumer, A, Tin, A, Wang, J, Tayo, BO, Ahluwalia, TS, Almgren, P, Bakker, SJL, Banas, B, Bansal, N, Biggs, ML, Boerwinkle, E, Bottinger, EP, Brenner, H, Carroll, R J, Chalmers, J, Chee, ML, Chee, MLA, Cheng, CY (Ching-Yu), Coresh, J, de Borst, MH, Degenhardt, F, Eckardt, KU, Endlich, K, Franke, A, Freitag-Wolf, S, Gampawar, P, Gansevoort, RT, Ghanbari, Mohsen, Gieger, C, Hamet, P, Ho, K, Hofer, E, Holleczek, B, Foo, VHX, Hutri-Kahonen, N, Hwang, SJ, Ikram, Arfan, Josyula, NS, Kahonen, M, Khor, CC, Koenig, W, Kramer, H, Kramer, BK, Kuhnel, B, Lange, LA, Lehtimaki, T, Lieb, W, Loos, RJF, Lukas, MA, Lyytikainen, LP, Meisinger, C, Meitinger, T, Melander, O, Milaneschi, Y, Mishra, PP, Mononen, N, Mychaleckyj, JC, Nadkarni, GN, Nauck, M, Nikus, K, Ning, B, Nolte, IM, O'Donoghue, ML, Orho-Melander, M, Pendergrass, SA, Penninx, B, Preuss, MH, Psaty, BM, Raffield, L M, Raitakari, OT, Rettig, R, Rheinberger, M, Rice, KM, Rosenkranz, AR, Rossing, P, Rotter, JI, Sabanayagam, C, Schmidt, H, Schmidt, R, Schottker, B, Schulz, C A, Sedaghat, Sanaz, Shaffer, CM, Strauch, K, Szymczak, S, Taylor, KD, Tremblay, J, Chaker, Layal, van der Harst, P, van der Most, PJ, Verweij, N, Volker, U, Waldenberger, M, Wallentin, L, Waterworth, DM, White, HD, Wilson, JG, Wong, TY, Woodward, M, Yang, Q, Yasuda, M, Yerges-Armstrong, LM, Zhang, Y, Snieder, H, Wanner, C, Boger, CA, Kottgen, A, Kronenberg, F, Pattaro, C, Heid, IM, Gorski, M, Jung, B, Li, Y, Matias-Garcia, PR, Wuttke, M, Coassin, S, Thio, CHL, Kleber, ME, Winkler, TW, Wanner, V, Chai, JF, Chu, AY, Cocca, M, Feitosa, MF, Ghasemi, S, Hoppmann, A, van der Horn, K, Li, M, Nutile, T, Scholz, M (Markus), Sieber, KB, Teumer, A, Tin, A, Wang, J, Tayo, BO, Ahluwalia, TS, Almgren, P, Bakker, SJL, Banas, B, Bansal, N, Biggs, ML, Boerwinkle, E, Bottinger, EP, Brenner, H, Carroll, R J, Chalmers, J, Chee, ML, Chee, MLA, Cheng, CY (Ching-Yu), Coresh, J, de Borst, MH, Degenhardt, F, Eckardt, KU, Endlich, K, Franke, A, Freitag-Wolf, S, Gampawar, P, Gansevoort, RT, Ghanbari, Mohsen, Gieger, C, Hamet, P, Ho, K, Hofer, E, Holleczek, B, Foo, VHX, Hutri-Kahonen, N, Hwang, SJ, Ikram, Arfan, Josyula, NS, Kahonen, M, Khor, CC, Koenig, W, Kramer, H, Kramer, BK, Kuhnel, B, Lange, LA, Lehtimaki, T, Lieb, W, Loos, RJF, Lukas, MA, Lyytikainen, LP, Meisinger, C, Meitinger, T, Melander, O, Milaneschi, Y, Mishra, PP, Mononen, N, Mychaleckyj, JC, Nadkarni, GN, Nauck, M, Nikus, K, Ning, B, Nolte, IM, O'Donoghue, ML, Orho-Melander, M, Pendergrass, SA, Penninx, B, Preuss, MH, Psaty, BM, Raffield, L M, Raitakari, OT, Rettig, R, Rheinberger, M, Rice, KM, Rosenkranz, AR, Rossing, P, Rotter, JI, Sabanayagam, C, Schmidt, H, Schmidt, R, Schottker, B, Schulz, C A, Sedaghat, Sanaz, Shaffer, CM, Strauch, K, Szymczak, S, Taylor, KD, Tremblay, J, Chaker, Layal, van der Harst, P, van der Most, PJ, Verweij, N, Volker, U, Waldenberger, M, Wallentin, L, Waterworth, DM, White, HD, Wilson, JG, Wong, TY, Woodward, M, Yang, Q, Yasuda, M, Yerges-Armstrong, LM, Zhang, Y, Snieder, H, Wanner, C, Boger, CA, Kottgen, A, Kronenberg, F, Pattaro, C, and Heid, IM
Abstract: Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more (“Rapid3”; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea 60 mL/min/1.73m2 or more at baseline (“CKDi25”; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or LARP4B. Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
Published: 2021

41. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Author: Hofer, E., Roshchupkin, G.V., Adams, H.H.H., Knol, M.J., Lin, H., Li, S., Zare, H., Ahmad, S., Armstrong, N.J., Satizabal, C.L., Bernard, M., Bis, J.C., Gillespie, N.A., Luciano, M., Mishra, A., Scholz, M., Teumer, A., Xia, R., Jian, X., Mosley, T.H., Saba, Y., Pirpamer, L., Seiler, S., Becker, J.T., Carmichael, O., Rotter, J.I., Psaty, B.M., Lopez, O.L., Amin, N., van der Lee, S.J., Yang, Q., Himali, J.J., Maillard, P., Beiser, A.S., DeCarli, C., Karama, S., Lewis, L., Harris, M., Bastin, M.E., Deary, I.J., Veronica Witte, A., Beyer, F., Loeffler, M., Mather, K.A., Schofield, P.R., Thalamuthu, A., Kwok, J.B., Wright, M.J., Ames, D., Trollor, J., Jiang, J., Brodaty, H., Wen, W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Niessen, W.J., Wittfeld, K., Bülow, R., Völker, U., Pausova, Z., Bruce Pike, G., Maingault, S., Crivello, F., Tzourio, C., Amouyel, P., Mazoyer, B., Neale, M.C., Franz, C.E., Lyons, M.J., Panizzon, M.S., Andreassen, O.A., Dale, A.M., Logue, M.A., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J., Hibar, D.P., Lind, P.A., Pizzagalli, F., Stein, J.L., Thompson, P.M., Medland, S.E., Sachdev, P.S., Kremen, W.S., Wardlaw, J.M., Villringer, A., van Duijn, C.M., Grabe, H.J., Longstreth, W.T., Fornage, M., Paus, T., Debette, S., Arfan Ikram, M., Schmidt, H., Schmidt, R., Seshadri, S., Hofer, E., Roshchupkin, G.V., Adams, H.H.H., Knol, M.J., Lin, H., Li, S., Zare, H., Ahmad, S., Armstrong, N.J., Satizabal, C.L., Bernard, M., Bis, J.C., Gillespie, N.A., Luciano, M., Mishra, A., Scholz, M., Teumer, A., Xia, R., Jian, X., Mosley, T.H., Saba, Y., Pirpamer, L., Seiler, S., Becker, J.T., Carmichael, O., Rotter, J.I., Psaty, B.M., Lopez, O.L., Amin, N., van der Lee, S.J., Yang, Q., Himali, J.J., Maillard, P., Beiser, A.S., DeCarli, C., Karama, S., Lewis, L., Harris, M., Bastin, M.E., Deary, I.J., Veronica Witte, A., Beyer, F., Loeffler, M., Mather, K.A., Schofield, P.R., Thalamuthu, A., Kwok, J.B., Wright, M.J., Ames, D., Trollor, J., Jiang, J., Brodaty, H., Wen, W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Niessen, W.J., Wittfeld, K., Bülow, R., Völker, U., Pausova, Z., Bruce Pike, G., Maingault, S., Crivello, F., Tzourio, C., Amouyel, P., Mazoyer, B., Neale, M.C., Franz, C.E., Lyons, M.J., Panizzon, M.S., Andreassen, O.A., Dale, A.M., Logue, M.A., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J., Hibar, D.P., Lind, P.A., Pizzagalli, F., Stein, J.L., Thompson, P.M., Medland, S.E., Sachdev, P.S., Kremen, W.S., Wardlaw, J.M., Villringer, A., van Duijn, C.M., Grabe, H.J., Longstreth, W.T., Fornage, M., Paus, T., Debette, S., Arfan Ikram, M., Schmidt, H., Schmidt, R., and Seshadri, S.
Abstract: Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
Published: 2020

42. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Author: Hofer, E., Roshchupkin, G.V., Adams, H.H.H., Knol, M.J., Lin, H., Li, S., Zare, H., Ahmad, S., Armstrong, N.J., Satizabal, Claudia L., Bernard, M., Bis, J.C., Gillespie, N.A., Luciano, M., Mishra, A, Scholz, M., Teumer, A., Xia, R., Jian, X., Mosley, T.H., Saba, Y., Pirpamer, L., Seiler, S., Becker, J.T., Carmichael, O., Rotter, J.I., Psaty, B.M., Lopez, O.L., Amin, N., Lee, S.J. van der, Yang, Q., Himali, J.J., Maillard, P., Beiser, A.S., DeCarli, C., Karama, S., Lewis, L., Harris, M., Bastin, M.E., Deary, I.J., Witte, A. Veronica, Beyer, F., Loeffler, M., Mather, K.A., Schofield, P.R., Thalamuthu, A., Kwok, J.B., Wright, M.J., Ames, D., Trollor, J., Jiang, J., Brodaty, H., Wen, W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Niessen, W.J., Wittfeld, K., Bülow, R., Völker, U., Pausova, Z., Pike, G. Bruce, Maingault, S., Crivello, F., Tzourio, C., Amouyel, P., Mazoyer, B., Neale, M.C., Franz, C.E., Lyons, M.J., Panizzon, M.S., Andreassen, O.A., Dale, A.M., Logue, M., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J.B., Hibar, D.P., Lind, P.A., Pizzagalli, F., Stein, J.L., Thompson, P.M., Medland, S.E., Sachdev, P.S., Kremen, W.S., Wardlaw, J.M., Villringer, A., Duijn, C.M. van, Grabe, H.J., Longstreth, W.T., Jr., Fornage, M., Paus, T., Debette, S., Ikram, M. Arfan, Schmidt, H., Schmidt, R., Seshadri, S., Hofer, E., Roshchupkin, G.V., Adams, H.H.H., Knol, M.J., Lin, H., Li, S., Zare, H., Ahmad, S., Armstrong, N.J., Satizabal, Claudia L., Bernard, M., Bis, J.C., Gillespie, N.A., Luciano, M., Mishra, A, Scholz, M., Teumer, A., Xia, R., Jian, X., Mosley, T.H., Saba, Y., Pirpamer, L., Seiler, S., Becker, J.T., Carmichael, O., Rotter, J.I., Psaty, B.M., Lopez, O.L., Amin, N., Lee, S.J. van der, Yang, Q., Himali, J.J., Maillard, P., Beiser, A.S., DeCarli, C., Karama, S., Lewis, L., Harris, M., Bastin, M.E., Deary, I.J., Witte, A. Veronica, Beyer, F., Loeffler, M., Mather, K.A., Schofield, P.R., Thalamuthu, A., Kwok, J.B., Wright, M.J., Ames, D., Trollor, J., Jiang, J., Brodaty, H., Wen, W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Niessen, W.J., Wittfeld, K., Bülow, R., Völker, U., Pausova, Z., Pike, G. Bruce, Maingault, S., Crivello, F., Tzourio, C., Amouyel, P., Mazoyer, B., Neale, M.C., Franz, C.E., Lyons, M.J., Panizzon, M.S., Andreassen, O.A., Dale, A.M., Logue, M., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J.B., Hibar, D.P., Lind, P.A., Pizzagalli, F., Stein, J.L., Thompson, P.M., Medland, S.E., Sachdev, P.S., Kremen, W.S., Wardlaw, J.M., Villringer, A., Duijn, C.M. van, Grabe, H.J., Longstreth, W.T., Jr., Fornage, M., Paus, T., Debette, S., Ikram, M. Arfan, Schmidt, H., Schmidt, R., and Seshadri, S.
Abstract: Contains fulltext : 229428.pdf (publisher's version ) (Open Access), Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
Published: 2020

43. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Author: Hofer, E, Roshchupkin, GV, Adams, HHH, Knol, MJ, Lin, H, Li, S, Zare, H, Ahmad, S, Armstrong, NJ, Satizabal, CL, Bernard, M, Bis, JC, Gillespie, NA, Luciano, M, Mishra, A, Scholz, M, Teumer, A, Xia, R, Jian, X, Mosley, TH, Saba, Y, Pirpamer, L, Seiler, S, Becker, JT, Carmichael, O, Rotter, JI, Psaty, BM, Lopez, OL, Amin, N, van der Lee, SJ, Yang, Q, Himali, JJ, Maillard, P, Beiser, AS, Decarli, C, Karama, S, Lewis, L, Harris, M, Bastin, ME, Deary, IJ, Witte, AV, Beyer, F, Loeffler, M, Mather, KA, Schofield, PR, Thalamuthu, A, Kwok, JB, Wright, MJ, Ames, D, Trollor, J, Jiang, J, Brodaty, H, Wen, W, Vernooij, MW, Hofman, A, Uitterlinden, AG, Niessen, WJ, Wittfeld, K, Bülow, R, Völker, U, Pausova, Z, Pike, GB, Maingault, S, Crivello, F, Tzourio, C, Amouyel, P, Mazoyer, B, Neale, MC, Franz, CE, Lyons, MJ, Panizzon, MS, Andreassen, OA, Dale, AM, Logue, M, Grasby, KL, Jahanshad, N, Painter, JN, Colodro-Conde, L, Bralten, J, Hibar, DP, Lind, PA, Pizzagalli, F, Stein, JL, Thompson, PM, Medland, SE, Sachdev, PS, Kremen, WS, Wardlaw, JM, Villringer, A, van Duijn, CM, Grabe, HJ, Longstreth, WT, Fornage, M, Paus, T, Debette, S, Ikram, MA, Schmidt, H, Schmidt, R, Seshadri, S, Ching, CRK, Hofer, E, Roshchupkin, GV, Adams, HHH, Knol, MJ, Lin, H, Li, S, Zare, H, Ahmad, S, Armstrong, NJ, Satizabal, CL, Bernard, M, Bis, JC, Gillespie, NA, Luciano, M, Mishra, A, Scholz, M, Teumer, A, Xia, R, Jian, X, Mosley, TH, Saba, Y, Pirpamer, L, Seiler, S, Becker, JT, Carmichael, O, Rotter, JI, Psaty, BM, Lopez, OL, Amin, N, van der Lee, SJ, Yang, Q, Himali, JJ, Maillard, P, Beiser, AS, Decarli, C, Karama, S, Lewis, L, Harris, M, Bastin, ME, Deary, IJ, Witte, AV, Beyer, F, Loeffler, M, Mather, KA, Schofield, PR, Thalamuthu, A, Kwok, JB, Wright, MJ, Ames, D, Trollor, J, Jiang, J, Brodaty, H, Wen, W, Vernooij, MW, Hofman, A, Uitterlinden, AG, Niessen, WJ, Wittfeld, K, Bülow, R, Völker, U, Pausova, Z, Pike, GB, Maingault, S, Crivello, F, Tzourio, C, Amouyel, P, Mazoyer, B, Neale, MC, Franz, CE, Lyons, MJ, Panizzon, MS, Andreassen, OA, Dale, AM, Logue, M, Grasby, KL, Jahanshad, N, Painter, JN, Colodro-Conde, L, Bralten, J, Hibar, DP, Lind, PA, Pizzagalli, F, Stein, JL, Thompson, PM, Medland, SE, Sachdev, PS, Kremen, WS, Wardlaw, JM, Villringer, A, van Duijn, CM, Grabe, HJ, Longstreth, WT, Fornage, M, Paus, T, Debette, S, Ikram, MA, Schmidt, H, Schmidt, R, Seshadri, S, and Ching, CRK
Abstract: Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
Published: 2020

44. Association of Factor V Leiden With Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data

Author: Mahmoodi, B.K., Tragante, V., Kleber, M.E., Holmes, M.V., Schmidt, A.F., McCubrey, R.O., Howe, L.J., Direk, K., Allayee, H., Baranova, E.V., Braund, P.S., Delgado, G.E., Eriksson, N., Gijsberts, C.M., Gong, Y., Hartiala, J., Heydarpour, M., Pasterkamp, G., Kotti, S., Kuukasjärvi, P., Lenzini, P.A., Levin, D., Lyytikäinen, L.P., Muehlschlegel, J.D., Nelson, C.P., Nikus, K., Pilbrow, A.P., Tang, W.H., Laan, S.W. van der, Setten, J. van, Vilmundarson, R.O., Deanfield, J., Deloukas, P., Dudbridge, F., James, S., Mordi, I.R., Teren, A., Bergmeijer, T.O., Body, S.C., Bots, M., Burkhardt, R., Cooper-DeHoff, R.M., Cresci, S., Danchin, N., Doughty, R.N., Grobbee, D.E., Hagström, E., Hazen, S.L., Held, C., Hoefer, I.E., Hovingh, G.K., Johnson, J.A., Kaczor, M.P., Kähönen, M., Klungel, O.H., Laurikka, J.O., Lehtimäki, T., Maitland-van der Zee, A.H., McPherson, R., Palmer, C.N., Kraaijeveld, A.O., Pepine, C.J., Sanak, M., Sattar, N., Scholz, M., Simon, T., Spertus, J.A., Stewart, A.F., Szczeklik, W., Thiery, J., Visseren, F.L., Waltenberger, J., Richards, A.M.S., Lang, C.C., Cameron, V.A., Åkerblom, A., Pare, G., März, W., Samani, N.J., Hingorani, A.D., Berg, J.M. ten, Wallentin, L., Asselbergs, F.W., Patel, R.S., Mahmoodi, B.K., Tragante, V., Kleber, M.E., Holmes, M.V., Schmidt, A.F., McCubrey, R.O., Howe, L.J., Direk, K., Allayee, H., Baranova, E.V., Braund, P.S., Delgado, G.E., Eriksson, N., Gijsberts, C.M., Gong, Y., Hartiala, J., Heydarpour, M., Pasterkamp, G., Kotti, S., Kuukasjärvi, P., Lenzini, P.A., Levin, D., Lyytikäinen, L.P., Muehlschlegel, J.D., Nelson, C.P., Nikus, K., Pilbrow, A.P., Tang, W.H., Laan, S.W. van der, Setten, J. van, Vilmundarson, R.O., Deanfield, J., Deloukas, P., Dudbridge, F., James, S., Mordi, I.R., Teren, A., Bergmeijer, T.O., Body, S.C., Bots, M., Burkhardt, R., Cooper-DeHoff, R.M., Cresci, S., Danchin, N., Doughty, R.N., Grobbee, D.E., Hagström, E., Hazen, S.L., Held, C., Hoefer, I.E., Hovingh, G.K., Johnson, J.A., Kaczor, M.P., Kähönen, M., Klungel, O.H., Laurikka, J.O., Lehtimäki, T., Maitland-van der Zee, A.H., McPherson, R., Palmer, C.N., Kraaijeveld, A.O., Pepine, C.J., Sanak, M., Sattar, N., Scholz, M., Simon, T., Spertus, J.A., Stewart, A.F., Szczeklik, W., Thiery, J., Visseren, F.L., Waltenberger, J., Richards, A.M.S., Lang, C.C., Cameron, V.A., Åkerblom, A., Pare, G., März, W., Samani, N.J., Hingorani, A.D., Berg, J.M. ten, Wallentin, L., Asselbergs, F.W., and Patel, R.S.
Abstract: Contains fulltext : 235380.pdf (Publisher’s version ) (Closed access), BACKGROUND: Studies examining the role of factor V Leiden among patients at higher risk of atherothrombotic events, such as those with established coronary heart disease (CHD), are lacking. Given that coagulation is involved in the thrombus formation stage on atherosclerotic plaque rupture, we hypothesized that factor V Leiden may be a stronger risk factor for atherothrombotic events in patients with established CHD. METHODS: We performed an individual-level meta-analysis including 25 prospective studies (18 cohorts, 3 case-cohorts, 4 randomized trials) from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) consortium involving patients with established CHD at baseline. Participating studies genotyped factor V Leiden status and shared risk estimates for the outcomes of interest using a centrally developed statistical code with harmonized definitions across studies. Cox proportional hazards regression models were used to obtain age- and sex-adjusted estimates. The obtained estimates were pooled using fixed-effect meta-analysis. The primary outcome was composite of myocardial infarction and CHD death. Secondary outcomes included any stroke, ischemic stroke, coronary revascularization, cardiovascular mortality, and all-cause mortality. RESULTS: The studies included 69 681 individuals of whom 3190 (4.6%) were either heterozygous or homozygous (n=47) carriers of factor V Leiden. Median follow-up per study ranged from 1.0 to 10.6 years. A total of 20 studies with 61 147 participants and 6849 events contributed to analyses of the primary outcome. Factor V Leiden was not associated with the combined outcome of myocardial infarction and CHD death (hazard ratio, 1.03 [95% CI, 0.92-1.16]; I(2)=28%; P-heterogeneity=0.12). Subgroup analysis according to baseline characteristics or strata of traditional cardiovascular risk factors did not show relevant differences. Similarly, risk estimates for the secondary outcomes including stroke, coronary revascularization, card
Published: 2020

45. Analysis of GPRC6A variants in different pancreatitis etiologies

Author: Kaune, T., Ruffert, C., Hesselbarth, N., Damm, M., Krug, S., Widdern, J. Cardinal von, Masson, E., Chen, J.M., Rebours, V., Buscail, L., Férec, C., Grützmann, R., Morsche, R.H.M. te, Drenth, J.P.H., Cavestro, G.M., Zuppardo, R.A., Saftoiu, A., Malecka-Panas, E., Głuszek, S., Bugert, P., Lerch, M.M., Sendler, M., Weiss, F.U., Zou, W.B., Deng, S.J., Liao, Z., Scholz, M., Kirsten, H., Hegyi, P., Witt, H., Michl, P., Griesmann, H., Rosendahl, J., Kaune, T., Ruffert, C., Hesselbarth, N., Damm, M., Krug, S., Widdern, J. Cardinal von, Masson, E., Chen, J.M., Rebours, V., Buscail, L., Férec, C., Grützmann, R., Morsche, R.H.M. te, Drenth, J.P.H., Cavestro, G.M., Zuppardo, R.A., Saftoiu, A., Malecka-Panas, E., Głuszek, S., Bugert, P., Lerch, M.M., Sendler, M., Weiss, F.U., Zou, W.B., Deng, S.J., Liao, Z., Scholz, M., Kirsten, H., Hegyi, P., Witt, H., Michl, P., Griesmann, H., and Rosendahl, J.
Abstract: Contains fulltext : 229360.pdf (Publisher’s version ) (Closed access), BACKGROUND: The G-protein-coupled receptor Class C Group 6 Member A (GPRC6A) is activated by multiple ligands and is important for the regulation of calcium homeostasis. Extracellular calcium is capable to increase NLRP3 inflammasome activity of the innate immune system and deletion of this proinflammatory pathway mitigated pancreatitis severity in vivo. As such this pathway and the GPRC6A receptor is a reasonable candidate gene for pancreatitis. Here we investigated the prevalence of sequence variants in the GPRC6A locus in different pancreatitis aetiologies. METHODS: We selected 6 tagging SNPs with the SNPinfo LD TAG SNP Selection tool and the functional relevant SNP rs6907580 for genotyping. Cohorts from Germany, further European countries and China with up to 1,124 patients and 1,999 controls were screened for single SNPs with melting curve analysis. RESULTS: We identified an association of rs1606365(G) with alcoholic chronic pancreatitis in a German (odds ratio (OR) 0.76, 95% confidence interval (CI) 0.65-0.89, p = 8 × 10(-5)) and a Chinese cohort (OR 0.78, 95% CI 0.64-0.96, p = 0.02). However, this association was not replicated in a combined cohort of European patients (OR 1.18, 95% CI 0.99-1.41, p = 0.07). Finally, no association was found with acute and non-alcoholic chronic pancreatitis. CONCLUSIONS: Our results support a potential role of calcium sensing receptors and inflammasome activation in alcoholic chronic pancreatitis development. As the functional consequence of the associated variant is unclear, further investigations might elucidate the relevant mechanisms.
Published: 2020

46. Common genetic variation indicates separate causes for periventricular and deep white matter hyperintensities

Author: Armstrong, N.J., Mather, K.A., Sargurupremraj, M., Knol, M.J., Malik, R., Satizabal, C.L., Yanek, L.R., Wen, W., Gudnason, V.G., Dueker, N.D., Elliott, L.T., Hofer, E., Bis, J., Jahanshad, N., Li, S., Logue, M.A., Luciano, M., Scholz, M., Smith, A.V., Trompet, S., Vojinovic, D., Xia, R., Alfaro-Almagro, F., Ames, D., Amin, N., Amouyel, P., Beiser, A.S., Brodaty, H., Deary, I.J., Fennema-Notestine, C., Gampawar, P.G., Gottesman, R., Griffanti, L., Jack, C.R., Jenkinson, M., Jiang, J., Kral, B.G., Kwok, J.B., Lampe, L., Liewald, D.C.M., Maillard, P., Marchini, J., Bastin, M.E., Mazoyer, B., Pirpamer, L., Romero, J.R., Roshchupkin, G.V., Schofield, P.R., Schroeter, M.L., Stott, D.J., Thalamuthu, A., Trollor, J., Tzourio, C., Van der Grond, J., Vernooij, M.W., Witte, V.A., Wright, M.J., Yang, Q., Morris, Z., Siggurdsson, S., Psaty, B.M., Villringer, A., Schmidt, H., Håberg, A.K., van Duijn, C.M., Jukema, J.W., Dichgans, M., Sacco, R.L., Wright, C.B., Kremen, W.S., Becker, L.C., Thompson, P.M., Mosley, T.H., Wardlaw, J.M., Ikram, M.A., Adams, H.H.H., Seshadri, S., Sachdev, P.S., Smith, S.M., Launer, L., Longstreth, W.T., DeCarli, C., Schmidt, R., Fornage, M., Debette, S., Nyquist, P.A., Armstrong, N.J., Mather, K.A., Sargurupremraj, M., Knol, M.J., Malik, R., Satizabal, C.L., Yanek, L.R., Wen, W., Gudnason, V.G., Dueker, N.D., Elliott, L.T., Hofer, E., Bis, J., Jahanshad, N., Li, S., Logue, M.A., Luciano, M., Scholz, M., Smith, A.V., Trompet, S., Vojinovic, D., Xia, R., Alfaro-Almagro, F., Ames, D., Amin, N., Amouyel, P., Beiser, A.S., Brodaty, H., Deary, I.J., Fennema-Notestine, C., Gampawar, P.G., Gottesman, R., Griffanti, L., Jack, C.R., Jenkinson, M., Jiang, J., Kral, B.G., Kwok, J.B., Lampe, L., Liewald, D.C.M., Maillard, P., Marchini, J., Bastin, M.E., Mazoyer, B., Pirpamer, L., Romero, J.R., Roshchupkin, G.V., Schofield, P.R., Schroeter, M.L., Stott, D.J., Thalamuthu, A., Trollor, J., Tzourio, C., Van der Grond, J., Vernooij, M.W., Witte, V.A., Wright, M.J., Yang, Q., Morris, Z., Siggurdsson, S., Psaty, B.M., Villringer, A., Schmidt, H., Håberg, A.K., van Duijn, C.M., Jukema, J.W., Dichgans, M., Sacco, R.L., Wright, C.B., Kremen, W.S., Becker, L.C., Thompson, P.M., Mosley, T.H., Wardlaw, J.M., Ikram, M.A., Adams, H.H.H., Seshadri, S., Sachdev, P.S., Smith, S.M., Launer, L., Longstreth, W.T., DeCarli, C., Schmidt, R., Fornage, M., Debette, S., and Nyquist, P.A.
Abstract: Background and Purpose: Periventricular white matter hyperintensities (WMH; PVWMH) and deep WMH (DWMH) are regional classifications of WMH and reflect proposed differences in cause. In the first study, to date, we undertook genome-wide association analyses of DWMH and PVWMH to show that these phenotypes have different genetic underpinnings. Methods: Participants were aged 45 years and older, free of stroke and dementia. We conducted genome-wide association analyses of PVWMH and DWMH in 26,654 participants from CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology), ENIGMA (Enhancing Neuro-Imaging Genetics Through Meta-Analysis), and the UKB (UK Biobank). Regional correlations were investigated using the genome-wide association analyses -pairwise method. Cross-trait genetic correlations between PVWMH, DWMH, stroke, and dementia were estimated using LDSC. Results: In the discovery and replication analysis, for PVWMH only, we found associations on chromosomes 2 (NBEAL), 10q23.1 (TSPAN14/FAM231A), and 10q24.33 (SH3PXD2A). In the much larger combined meta-analysis of all cohorts, we identified ten significant regions for PVWMH: chromosomes 2 (3 regions), 6, 7, 10 (2 regions), 13, 16, and 17q23.1. New loci of interest include 7q36.1 (NOS3) and 16q24.2. In both the discovery/replication and combined analysis, we found genome-wide significant associations for the 17q25.1 locus for both DWMH and PVWMH. Using gene-based association analysis, 19 genes across all regions were identified for PVWMH only, including the new genes: CALCRL (2q32.1), KLHL24 (3q27.1), VCAN (5q27.1), and POLR2F (22q13.1). Thirteen genes in the 17q25.1 locus were significant for both phenotypes. More extensive genetic correlations were observed for PVWMH with small vessel ischemic stroke. There were no associations with dementia for either phenotype. Conclusions: Our study confirms these phenotypes have distinct and also shared genetic architectures. Genetic analyses indicated PVWMH was mo
Published: 2020

47. Global and regional development of the human cerebral cortex: Molecular architecture and occupational aptitudes

Author: Paus, T., Seshadri, S., Pausova, Z., Sestan, N., Jahanshad, N., Ding, L., Kremen, W.S., Franz, C.E., Gillespie, N.A., Debette, S., Maingault, S., Mishra, A., Tzourio, C., Grabe, H.J., Bülow, R., Wittfeld, K., van der -Palitschka, S., Frenzel, S., Ikram, M.A., Adams, H.H.H.H., Evans, T.E., Terzikhan, N., Sachdev, P.S., Wen, W., Brodaty, H., Wright, M.J., Trollor, J.N., Thalamuthu, A., Schofield, P.R., Kwok, J.B., Jiang, J., Ames, D., Mather, K.A., Armstrong, N.J., Villringer, A., Beyer, F., Witte, A.V., Loeffler, M., Scholz, M., Deary, I.E., Wardlaw, J.M., Harris, M.A., Bastin, M.E., Lewis, L., Karama, S., Luciano, M., Yang, Q., Li, S., Bis, J.C., Mazoyer, B., Crivello, F., Carrion-Castillo, A., Schmidt, H., Schmidt, R., Pirpamer, L., Saba, Y., Fornage, M., Mosley, T.H., Gottesman, R., Jian, X., Sousa, A.M.M., Roshchupkin, G.V., Tilley, S., Vosberg, D.E., Patel, Y., Hofer, E., Ma, S., Shin, J., Paus, T., Seshadri, S., Pausova, Z., Sestan, N., Jahanshad, N., Ding, L., Kremen, W.S., Franz, C.E., Gillespie, N.A., Debette, S., Maingault, S., Mishra, A., Tzourio, C., Grabe, H.J., Bülow, R., Wittfeld, K., van der -Palitschka, S., Frenzel, S., Ikram, M.A., Adams, H.H.H.H., Evans, T.E., Terzikhan, N., Sachdev, P.S., Wen, W., Brodaty, H., Wright, M.J., Trollor, J.N., Thalamuthu, A., Schofield, P.R., Kwok, J.B., Jiang, J., Ames, D., Mather, K.A., Armstrong, N.J., Villringer, A., Beyer, F., Witte, A.V., Loeffler, M., Scholz, M., Deary, I.E., Wardlaw, J.M., Harris, M.A., Bastin, M.E., Lewis, L., Karama, S., Luciano, M., Yang, Q., Li, S., Bis, J.C., Mazoyer, B., Crivello, F., Carrion-Castillo, A., Schmidt, H., Schmidt, R., Pirpamer, L., Saba, Y., Fornage, M., Mosley, T.H., Gottesman, R., Jian, X., Sousa, A.M.M., Roshchupkin, G.V., Tilley, S., Vosberg, D.E., Patel, Y., Hofer, E., Ma, S., and Shin, J.
Abstract: We have carried out meta-analyses of genome-wide association studies (GWAS) (n = 23 784) of the first two principal components (PCs) that group together cortical regions with shared variance in their surface area. PC1 (global) captured variations of most regions, whereas PC2 (visual) was specific to the primary and secondary visual cortices. We identified a total of 18 (PC1) and 17 (PC2) independent loci, which were replicated in another 25 746 individuals. The loci of the global PC1 included those associated previously with intracranial volume and/or general cognitive function, such as MAPT and IGF2BP1. The loci of the visual PC2 included DAAM1, a key player in the planar-cell-polarity pathway. We then tested associations with occupational aptitudes and, as predicted, found that the global PC1 was associated with General Learning Ability, and the visual PC2 was associated with the Form Perception aptitude. These results suggest that interindividual variations in global and regional development of the human cerebral cortex (and its molecular architecture) cascade—albeit in a very limited manner—to behaviors as complex as the choice of one’s occupation.
Published: 2020

48. Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.

Author: Vogelezang, S, Bradfield, JP, Ahluwalia, TS, Curtin, JA, Lakka, TA, Grarup, N, Scholz, M, van der Most, PJ, Monnereau, C, Stergiakouli, E, Heiskala, A, Horikoshi, M, Fedko, IO, Vilor-Tejedor, N, Cousminer, DL, Standl, M, Wang, CA, Viikari, J, Geller, F, Íñiguez, C, Pitkänen, N, Chesi, A, Bacelis, J, Yengo, L, Torrent, M, Ntalla, I, Helgeland, Ø, Selzam, S, Vonk, JM, Zafarmand, MH, Heude, B, Farooqi, IS, Alyass, A, Beaumont, RN, Have, CT, Rzehak, P, Bilbao, JR, Schnurr, TM, Barroso, I, Bønnelykke, K, Beilin, LJ, Carstensen, L, Charles, M-A, Chawes, B, Clément, K, Closa-Monasterolo, R, Custovic, A, Eriksson, JG, Escribano, J, Groen-Blokhuis, M, Grote, V, Gruszfeld, D, Hakonarson, H, Hansen, T, Hattersley, AT, Hollensted, M, Hottenga, J-J, Hyppönen, E, Johansson, S, Joro, R, Kähönen, M, Karhunen, V, Kiess, W, Knight, BA, Koletzko, B, Kühnapfel, A, Landgraf, K, Langhendries, J-P, Lehtimäki, T, Leinonen, JT, Li, A, Lindi, V, Lowry, E, Bustamante, M, Medina-Gomez, C, Melbye, M, Michaelsen, KF, Morgen, CS, Mori, TA, Nielsen, TRH, Niinikoski, H, Oldehinkel, AJ, Pahkala, K, Panoutsopoulou, K, Pedersen, O, Pennell, CE, Power, C, Reijneveld, SA, Rivadeneira, F, Simpson, A, Sly, Peter, Stokholm, J, Teo, KK, Thiering, E, Timpson, NJ, Uitterlinden, AG, van Beijsterveldt, CEM, van Schaik, BDC, Vaudel, M, Verduci, E, Vinding, RK, Vogel, M, Zeggini, E, Sebert, S, Lind, MV, Brown, CD, Santa-Marina, L, Reischl, E, Frithioff-Bøjsøe, C, Meyre, D, Wheeler, E, Ong, K, Nohr, EA, Vrijkotte, TGM, Koppelman, GH, Plomin, R, Njølstad, PR, Dedoussis, GD, Froguel, P, Sørensen, TIA, Jacobsson, B, Freathy, RM, Zemel, BS, Raitakari, O, Vrijheid, M, Feenstra, B, Lyytikäinen, L-P, Snieder, H, Kirsten, H, Holt, PG, Heinrich, J, Widén, E, Sunyer, J, Boomsma, DI, Järvelin, M-R, Körner, A, Davey Smith, G, Holm, J-C, Atalay, M, Murray, C, Bisgaard, H, McCarthy, MI, Early Growth Genetics Consortium, Jaddoe, VWV, Grant, SFA, Felix, JF, Vogelezang, S, Bradfield, JP, Ahluwalia, TS, Curtin, JA, Lakka, TA, Grarup, N, Scholz, M, van der Most, PJ, Monnereau, C, Stergiakouli, E, Heiskala, A, Horikoshi, M, Fedko, IO, Vilor-Tejedor, N, Cousminer, DL, Standl, M, Wang, CA, Viikari, J, Geller, F, Íñiguez, C, Pitkänen, N, Chesi, A, Bacelis, J, Yengo, L, Torrent, M, Ntalla, I, Helgeland, Ø, Selzam, S, Vonk, JM, Zafarmand, MH, Heude, B, Farooqi, IS, Alyass, A, Beaumont, RN, Have, CT, Rzehak, P, Bilbao, JR, Schnurr, TM, Barroso, I, Bønnelykke, K, Beilin, LJ, Carstensen, L, Charles, M-A, Chawes, B, Clément, K, Closa-Monasterolo, R, Custovic, A, Eriksson, JG, Escribano, J, Groen-Blokhuis, M, Grote, V, Gruszfeld, D, Hakonarson, H, Hansen, T, Hattersley, AT, Hollensted, M, Hottenga, J-J, Hyppönen, E, Johansson, S, Joro, R, Kähönen, M, Karhunen, V, Kiess, W, Knight, BA, Koletzko, B, Kühnapfel, A, Landgraf, K, Langhendries, J-P, Lehtimäki, T, Leinonen, JT, Li, A, Lindi, V, Lowry, E, Bustamante, M, Medina-Gomez, C, Melbye, M, Michaelsen, KF, Morgen, CS, Mori, TA, Nielsen, TRH, Niinikoski, H, Oldehinkel, AJ, Pahkala, K, Panoutsopoulou, K, Pedersen, O, Pennell, CE, Power, C, Reijneveld, SA, Rivadeneira, F, Simpson, A, Sly, Peter, Stokholm, J, Teo, KK, Thiering, E, Timpson, NJ, Uitterlinden, AG, van Beijsterveldt, CEM, van Schaik, BDC, Vaudel, M, Verduci, E, Vinding, RK, Vogel, M, Zeggini, E, Sebert, S, Lind, MV, Brown, CD, Santa-Marina, L, Reischl, E, Frithioff-Bøjsøe, C, Meyre, D, Wheeler, E, Ong, K, Nohr, EA, Vrijkotte, TGM, Koppelman, GH, Plomin, R, Njølstad, PR, Dedoussis, GD, Froguel, P, Sørensen, TIA, Jacobsson, B, Freathy, RM, Zemel, BS, Raitakari, O, Vrijheid, M, Feenstra, B, Lyytikäinen, L-P, Snieder, H, Kirsten, H, Holt, PG, Heinrich, J, Widén, E, Sunyer, J, Boomsma, DI, Järvelin, M-R, Körner, A, Davey Smith, G, Holm, J-C, Atalay, M, Murray, C, Bisgaard, H, McCarthy, MI, Early Growth Genetics Consortium, Jaddoe, VWV, Grant, SFA, and Felix, JF
Abstract: The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed a genome-wide association study meta-analysis of BMI in 61,111 children aged between 2 and 10 years. Twenty-five independent loci reached genome-wide significance in the combined discovery and replication analyses. Two of these, located near NEDD4L and SLC45A3, have not previously been reported in relation to either childhood or adult BMI. Positive genetic correlations of childhood BMI with birth weight and adult BMI, waist-to-hip ratio, diastolic blood pressure and type 2 diabetes were detected (Rg ranging from 0.11 to 0.76, P-values <0.002). A negative genetic correlation of childhood BMI with age at menarche was observed. Our results suggest that the biological processes underlying childhood BMI largely, but not completely, overlap with those underlying adult BMI. The well-known observational associations of BMI in childhood with cardio-metabolic diseases in adulthood may reflect partial genetic overlap, but in light of previous evidence, it is also likely that they are explained through phenotypic continuity of BMI from childhood into adulthood.
Published: 2020

49. Food & Nutrition: The driving factors of our gut microbes

Author: Scholz, M, Casey, Heidi, Fava, F, Tuohy, K, Whelan, K, Scholz, M, Casey, Heidi, Fava, F, Tuohy, K, and Whelan, K
Abstract: AbstractIntroduction: The gut microbiome has attracted much attention in the last decade due to new studies and technologies revealing how gut microbes play a key role in human health and disease risk. However, we still know little about how diets, foods and nutrients shape the gut microbiome.Materials and Methods: To expand our knowledge about the complex relationship between nutrient intake and intestinal bacteria, we performed a broad dietary study covering diverse foods and nutrient intakes of nearly 100 adults. We analyzed metataxonomic data from 16S rRNA sequencing and correlated the microbial abundances of the top 55 dominant taxonomic groups with collected intakes of 40 food groups and 44 nutritional parameters, as well as degree of adherence to healthy eating patterns. Based on Spearman correlation profiles and hierarchical clustering, we also identified food groups and nutritional parameters that modulate in a similar manner microbial community structure.Results: We will present preliminary results showing direct effects of specific dietary patterns (e.g. adherence to the Mediterranean style diet), food groups (e.g., fruits, nuts, dairy) and nutrients (e.g. iron, magnesium, zinc) on specific genera of the gut microbiota. We found significant associations between alcohol and the bacterial genus Holdemania. We will show that food groups supposed to belong to the same higher-level food category do not always show the expected effect on the gut microbes, which supports the need for a detailed food classification scheme to investigate dietary effects. Similarly, we found that co
Published: 2020

50. Impact of exercise training status on the fiber type-specific abundance of proteins regulating intramuscular lipid metabolism

Author: Shaw, C. S., Swinton, C., Morales-Scholz, M. G., McRae, N., Erftemeyer, T., Aldous, A., Murphy, R. M., Howlett, K. F., Shaw, C. S., Swinton, C., Morales-Scholz, M. G., McRae, N., Erftemeyer, T., Aldous, A., Murphy, R. M., and Howlett, K. F.
Published: 2020

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