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1. Climate change impacts on a sedimentary coast—a regional synthesis from genes to ecosystems

Author

Buschbaum, Christian, Shama, L. N. S., Amorim, F. L. L., Brand, S., Broquard, C. M. A., Camillini, N., Cornelius, A., Dolch, T., Dummermuth, A., Feldner, J., Guignard, M. S., Habedank, J., Hoffmann, J. J. L., Horn, S., Konyssova, G., Koop-Jakobsen, K., Lauerburg, R., Mehler, K., Odongo, V., Petri, M., Reents, S., Rick, J. J., Rubinetti, S., Salahi, M., Sander, L., Sidorenko, V., Spence-Jones, H. C., van Beusekom, J. E. E., Waser, A. M., Wegner, K. M., and Wiltshire, K. H.

Published
2024
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4. A first assessment of the safe brain initiative care bundle for addressing postoperative delirium in the postanesthesia care unit.

Author

Meco, BC, Jakobsen, K, De Robertis, E, Buhre, W, Alkış, N, Kirkegaard, PR, Hägi-Pedersen, D, Bubser, F, Koch, S, Evered, LA, Saunders, SJ, Caterino, M, Paolini, F, Berger-Estilita, J, Radtke, FM, Meco, BC, Jakobsen, K, De Robertis, E, Buhre, W, Alkış, N, Kirkegaard, PR, Hägi-Pedersen, D, Bubser, F, Koch, S, Evered, LA, Saunders, SJ, Caterino, M, Paolini, F, Berger-Estilita, J, and Radtke, FM

Abstract

BACKGROUND: Postoperative delirium (POD) following surgery is a prevalent and distressing condition associated with adverse patient outcomes and an increased healthcare burden. OBJECTIVES: To assess the effectiveness of the Safe Brain Initiative care bundle (SBI-CB) in reducing POD in the postanesthesia care unit (PACU). DESIGN: A multicenter, quality-improvement initiative with retrospective analysis of collected data. SETTING: The study was conducted in the operating rooms and postanesthesia care units (PACUs) of four hospitals across Denmark and Turkey. PATIENTS: The convenience sample of patients were aged ≥18 years, scheduled for surgery, and could communicate verbally. Age, sex, preoperative delirium, and the American Society for Anesthesiology physical status classification were used in statistical methods to control for potential confounding influences. INTERVENTION: The SBI-CB, 18 delirium-reducing recommendations aligned with international guidelines. The intervention included patient education, staff training, coordination meetings across centers, and a dashboard for the monitoring of outcomes in the PACU. MAIN OUTCOME MEASURES: The primary outcome was the POD trend in the PACU during implementation months, assessed through Nu-DESC screening at up to three time points in the PACU. We also examined the length of hospital stay. RESULTS: Data were collected from 18,697 adult patients across four hospitals. Initial POD incidence in the PACU after the first three months was 16.36% across all sites (n = 1021). POD in the PACU was observed across all age groups, with peak incidence in younger (18-35 years) and older (>75 years) patients. General anesthesia and longer surgical duration (>1 h) were identified as significant risk factors for POD in the PACU. Matched patients who experienced POD in the PACU had longer stays in hospital, with a mean increase from 35 to 69 h (p < 0.001). Implementation of the SBI-CB was associated with a decreased risk of POD in the P

Published
2024

5. A comprehensive assessment of carbon dioxide removal options for Germany

Author

Borchers, Malgorzata, Förster, Johannes, Thrän, Daniela, Beck, Silke, Thoni, Terese Elisabeth, Korte, Klaas, Gawel, Erik, Markus, Till, Schaller, Romina Luz, Rhoden, I., Chi, Y., Dahmen, N., Dittmeyer, R., Dolch, T., Dold, C., Herbst, M., Heß, D., Kalhori, A., Koop-Jakobsen, K., Li, Z., Oschlies, A., Reusch, T.B.H., Sachs, T., Schmidt-Hattenberger, C., Stevenson, A., Wu, J., Yeates, C., Mengis, N., Borchers, Malgorzata, Förster, Johannes, Thrän, Daniela, Beck, Silke, Thoni, Terese Elisabeth, Korte, Klaas, Gawel, Erik, Markus, Till, Schaller, Romina Luz, Rhoden, I., Chi, Y., Dahmen, N., Dittmeyer, R., Dolch, T., Dold, C., Herbst, M., Heß, D., Kalhori, A., Koop-Jakobsen, K., Li, Z., Oschlies, A., Reusch, T.B.H., Sachs, T., Schmidt-Hattenberger, C., Stevenson, A., Wu, J., Yeates, C., and Mengis, N.

Abstract

To reach their net-zero targets, countries will have to compensate hard-to-abate CO2 emissions through carbon dioxide removal (CDR). Yet, current assessments rarely include socio-cultural or institutional aspects or fail to contextualize CDR options for implementation. Here we present a context-specific feasibility assessment of CDR options for the example of Germany. We assess 14 CDR options, including three chemical carbon capture options, six options for bioenergy combined with carbon capture and storage (BECCS), and five options that aim to increase ecosystem carbon uptake. The assessment addresses technological, economic, environmental, institutional, social-cultural and systemic considerations using a traffic-light system to evaluate implementation opportunities and hurdles. We find that in Germany CDR options like cover crops or seagrass restoration currently face comparably low implementation hurdles in terms of technological, economic, or environmental feasibility and low institutional or social opposition but show comparably small CO2 removal potentials. In contrast, some BECCS options that show high CDR potentials face significant techno-economic, societal and institutional hurdles when it comes to the geological storage of CO2. While a combination of CDR options is likely required to meet the net-zero target in Germany, the current climate protection law includes a limited set of options. Our analysis aims to provide comprehensive information on CDR hurdles and possibilities for Germany for use in further research on CDR options, climate, and energy scenario development, as well as an effective decision support basis for various actors.

Published
2024

6. Brief Report: Clusters and Trajectories across the Autism and/or ADHD Spectrum

Author

LaBianca, S., Pagsberg, A. K., Jakobsen, K. D., Demur, A. B., Bartalan, M., LaBianca, J., and Werge, T.

Abstract

Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) frequently co-occur and show high genetic correlation. With the introduction of DSM-5, there is a new concept of an ASD and/or ADHD spectrum (ASD/ADHD). This study aimed to identify predictors of severity and need of healthcare within this spectrum. 39 families with multiple individuals affected by ASD/ADHD were recruited from a psychiatric clinic. Diagnoses, functional and demographic characteristics were retrieved from journals while hospital admissions were identified in the Danish health register. An estimated fraction of 31% ASD/ADHD patients had never been hospitalized and 35% remained undiagnosed despite hospitalization. Cluster analysis identified trajectories that discriminate age of diagnosis, educational attainment to degree of severity, need of hospitalization and genetic risk.

Published
2018
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8. Netto-Null-2050 Wegweiser - Strategische Handlungsempfehlungen und mögliche Wege für ein CO2-neutrales Deutschland bis 2050, Forschung von 2019 bis 2021 - Version 1.0

Author

Abetz, V., Baetcke, L., Ball, C., Bauer, F., Beck, Silke, Berkel, M., Blome, T., Borchers, Malgorzata, Brinkmann, T., Bruhn, D., Chi, Y., Dahmen, N., Dittmeyer, R., Dolch, T., Dold, C., Dornheim, M., El Zhobi, J., Fogel, S., Förster, Johannes, Fuchs, S., Gardian, H., Gawel, Erik, Görl, K., Groth, M., Hamedimastanabad, H., Hampel, U., Harpprecht, C., Herbst, M., Heß, D., Jacob, D., Kalhori, A., Kiendler-Scharr, A., Klassen, T., Köhnke, F., Koop-Jakobsen, K., Korte, Klaas, Kuckshinrichs, W., Li, Z., Markus, Till, Mayer, M., Mengis, N., Monnerie, N., O Corcora, T., Oschlies, A., Pardo Parez, L.C., Prats Salvado, E., Pregger, T., Preuschmann, S., Rau, B., Rechid, D., Reusch, T., Rhoden, I., Riehm, J., Roeb, M., Rolletter, M., Sachs, T., Sattler, C., Sauer, J., Schaller, Romina Luz ; orcid:0000-0003-2245-046X, Schätzler, K., Schill, E., Schmidt-Hattenberger, C., Schultz, M., Simon, S., Steiner, U., Steuri, B., Stevenson, A., Sun, J., Thoni, Terese Elisabeth, Thrän, Daniela, Unger, S., Vögele, S., Waczowicz, S., Weihermüller, L., Xiao, M., Yeates, C., Zwickel, P., Abetz, V., Baetcke, L., Ball, C., Bauer, F., Beck, Silke, Berkel, M., Blome, T., Borchers, Malgorzata, Brinkmann, T., Bruhn, D., Chi, Y., Dahmen, N., Dittmeyer, R., Dolch, T., Dold, C., Dornheim, M., El Zhobi, J., Fogel, S., Förster, Johannes, Fuchs, S., Gardian, H., Gawel, Erik, Görl, K., Groth, M., Hamedimastanabad, H., Hampel, U., Harpprecht, C., Herbst, M., Heß, D., Jacob, D., Kalhori, A., Kiendler-Scharr, A., Klassen, T., Köhnke, F., Koop-Jakobsen, K., Korte, Klaas, Kuckshinrichs, W., Li, Z., Markus, Till, Mayer, M., Mengis, N., Monnerie, N., O Corcora, T., Oschlies, A., Pardo Parez, L.C., Prats Salvado, E., Pregger, T., Preuschmann, S., Rau, B., Rechid, D., Reusch, T., Rhoden, I., Riehm, J., Roeb, M., Rolletter, M., Sachs, T., Sattler, C., Sauer, J., Schaller, Romina Luz ; orcid:0000-0003-2245-046X, Schätzler, K., Schill, E., Schmidt-Hattenberger, C., Schultz, M., Simon, S., Steiner, U., Steuri, B., Stevenson, A., Sun, J., Thoni, Terese Elisabeth, Thrän, Daniela, Unger, S., Vögele, S., Waczowicz, S., Weihermüller, L., Xiao, M., Yeates, C., and Zwickel, P.

Published
2023

9. Improvement in Neisseria gonorrhoeae culture rates by bedside inoculation and incubation at a clinic for sexually transmitted infections

Author

Brendefur Corwin, L. M., Campbell, P., Jakobsen, K., Müller, F., Lai, X, Unemo, Magnus, Leegaard, T. M., Vildershøj Bjørnholt, J., Olsen, A. O., Brendefur Corwin, L. M., Campbell, P., Jakobsen, K., Müller, F., Lai, X, Unemo, Magnus, Leegaard, T. M., Vildershøj Bjørnholt, J., and Olsen, A. O.

Abstract

BACKGROUND: Culture of Neisseria gonorrhoeae is essential for surveillance of complete antimicrobial susceptibility profiles. In 2014, the culture success rate of N. gonorrhoeae from samples taken at the clinic for sexually transmitted infections (STI clinic), Oslo University Hospital, Norway, was only 20%. The present study aimed to improve gonococcal culture rates using bedside inoculation of patient samples on gonococcal agar plates and incubation at the STI clinic. METHODS: This prospective quality improvement study was conducted by the STI clinic and the Department of Microbiology at Oslo University Hospital from May 2016 - October 2017. When culture of N. gonorrhoeae was clinically indicated, we introduced a parallel 'bedside culture' at the STI clinic and compared results with the standard culture at the microbiology department. Samples were taken from urethra, anorectum, pharynx and cervix. Culture rates were compared across symptomatic and asymptomatic anatomical sites. RESULTS: From 596 gonococcal-positive PCR samples, bedside culture had a significantly higher success rate of 57% compared to 41% with standard culture (p < 0.05). Overall, culture rate from symptomatic sites was 91% v. 45% from asymptomatic sites. The culture rates from different anatomical sites were as follows: urethra 93%, anorectum 64%, pharynx 28% and cervix 70%. Bedside culture significantly (p < 0.05) improved the culture rates for symptomatic urethral and asymptomatic pharyngeal samples. CONCLUSIONS: Where feasible, bedside inoculation on gonococcal agar plates and incubation of samples from patients with gonorrhoea is recommended. This will improve the culture diagnostics and provide additional gonococcal isolates for antimicrobial resistance surveillance.

Published
2023
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12. Scoping carbon dioxide removal options for Germany–What is their potential contribution to Net-Zero CO2?

Author

Borchers, Malgorzata, Thrän, Daniela, Chi, Y., Dahmen, N., Dittmeyer, R., Dolch, T., Dold, C., Förster, Johannes, Herbst, M., Heß, D., Kalhori, A., Koop-Jakobsen, K., Li, Z., Mengis, N., Reusch, T.B., Rhoden, I., Sachs, T., Schmidt-Hattenberger, C., Stevenson, A., Thoni, Terese Elisabeth, Wu, J., Yeates, C., Borchers, Malgorzata, Thrän, Daniela, Chi, Y., Dahmen, N., Dittmeyer, R., Dolch, T., Dold, C., Förster, Johannes, Herbst, M., Heß, D., Kalhori, A., Koop-Jakobsen, K., Li, Z., Mengis, N., Reusch, T.B., Rhoden, I., Sachs, T., Schmidt-Hattenberger, C., Stevenson, A., Thoni, Terese Elisabeth, Wu, J., and Yeates, C.

Abstract

The Paris climate agreement outlines that, to meet its temperature goal, we need to balance anthropogenic greenhouse gas emissions with sinks. Carbon Dioxide Removal (CDR) is considered a key element to reaching that goal. There are currently a wide variety of CDR measures available. Their implementation, and accordingly their potential, however, depends on site specific conditions, such as biophysical conditions, availability of infrastructure, social acceptance, regulatory frameworks and policy instruments in place. In our study we investigated various near-to-market CDR options for Germany, which we present in the form of thirteen dedicated model concepts. They cover technical CO2 removal (two models of direct air carbon capture, i.e. DACC), hybrid solutions (six bioenergy with carbon capture technologies, i.e., BECC) and five options for natural sink enhancement, so-called Nature-Based Solutions (NBS). Our estimates for their CO2 removal potentials in 2050 range from 0.4 to 30 million tonnes CO2, depending on the option. Ten of thirteen model concepts provide technical removal potentials higher than 1 million tonnes CO2 per year. To complement the necessary information on technology-based and hybrid options we also provide an overview on possible solutions for CO2 storage for Germany. Taking biophysical conditions and infrastructure into account, northern Germany seems a preferable area for deployment of many concepts. However, for their successful implementation further socio-economic analysis, clear regulations, and policy incentives are necessary.

Published
2022

15. PO-1569 An international, multicenter planning study on regional nodal irradiation in breast cancer

Author

Duma, M.N., primary, Vrou Offersen, B., additional, Bessermann Johansen, M., additional, Boye, K., additional, Kristensen, B.S., additional, Meattini, I., additional, Marrazzo, L., additional, Di Cataldo, V., additional, De Caluwé, A., additional, Teixeira, D., additional, Franco, P., additional, Loi, G., additional, Jensen, I., additional, Møller, M., additional, Verhoeven, K., additional, Marseguerra, R., additional, Legård Jakobsen, K., additional, Aziz-Jowad Al-Rawi, S., additional, Kirova, Y., additional, Jereczek-Fossa, B.A., additional, Leonardi, M.C., additional, Luraschi, R., additional, Kindts, I., additional, Goethals, L., additional, Loap, P., additional, Vu-Bezim, J., additional, Weimann, S., additional, Teichmann, T., additional, and Wittig, A., additional

Published
2022
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17. An international, multicenter planning study on regional nodal irradiation in breast cancer

Author

Duma, M. N., Offersen, B. Vrou, Johansen, M. Bessermann, Boye, K., Kristensen, B. S., Meattini, I., Marrazzo, L., Di Cataldo, V., De Caluwe, A., Teixeira, D., Franco, P., Loi, G., Jensen, I., Møller, M., Verhoeven, K., Marseguerra, R., Jakobsen, K. Legård, Al-Rawi, S. Aziz-Jowad, Kirova, Y., Jereczek-Fossa, B. A., Leonardi, M. C., Luraschi, R., Kindts, I., Goethals, L., Loap, P., Vu-Bezim, J., Weimann, S., Teichmann, T., and Wittig, A.

Published
2022
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21. Copy number variations of chromosome 16p13.1 region associated with schizophrenia

Author

Ingason, A, Rujescu, D, Cichon, S, Sigurdsson, E, Sigmundsson, T, Pietiläinen, O P H, Buizer-Voskamp, J E, Strengman, E, Francks, C, Muglia, P, Gylfason, A, Gustafsson, O, Olason, P I, Steinberg, S, Hansen, T, Jakobsen, K D, Rasmussen, H B, Giegling, I, Möller, H-J, Hartmann, A, Crombie, C, Fraser, G, Walker, N, Lonnqvist, J, Suvisaari, J, Tuulio-Henriksson, A, Bramon, E, Kiemeney, L A, Franke, B, Murray, R, Vassos, E, Toulopoulou, T, Mühleisen, T W, Tosato, S, Ruggeri, M, Djurovic, S, Andreassen, O A, Zhang, Z, Werge, T, Ophoff, R A, Rietschel, M, Nöthen, M M, Petursson, H, Stefansson, H, Peltonen, L, Collier, D, Stefansson, K, and Clair, D M St

Published
2011
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22. Salt marsh ecosystem biogeochemical responses to nutrient enrichment: a paired [sup.15]N tracer study

Author

Drake, D.C., Peterson, Bruce J., Galvan, Kari A., Deegan, Linda A., Hopkinson, Charles, Johnson, J. Michael, Koop-Jakobsen, K., Lemay, Lynsey E., and Picard, Christian

Subjects
Tidal marshes -- Properties, Soil inoculation -- Research, Soils -- Nitrogen content, Soils -- Research, Biological sciences, Environmental issues
Abstract

We compared processing and fate of dissolved N[O.sub.3.sup.-] in two New England salt marsh ecosystems, one receiving natural flood tide concentrations of ~1-4 [micro]mol N[O.sub.3.sup.-]/L and the other receiving experimentally fertilized flood tides containing ~70-100 [micro]mol N[O.sub.3.sup.-]/L. We conducted simultaneous [sup.15]N[O.sub.3.sup.-] (isotope) tracer additions from 23 to 28 July 2005 in the reference (8.4 ha) and fertilized (12.4 ha) systems to compare N dynamics and fate. Two full tidal cycles were intensively studied during the paired tracer additions. Resulting mass balances showed that essentially 100% (0.48-0.61 mol N[O.sub.3]-N x [ha.sup.-1] x [h.sup.-1]) of incoming N[O.sub.3.sup.-]] was assimilated, dissimilated, sorbed, or sedimented (processed) within a few hours in the reference system when N[O.sub.3.sup.-] concentrations were 1.3-1.8 [micro]mol/L. In contrast, only 50-60% of incoming N[O.sub.3.sup.-] was processed in the fertilized system when N[O.sub.3.sup.-] concentrations were 84-96 [micro]mol/L; the remainder was exported in ebb tidewater. Gross N[O.sub.3.sup.-] processing was ~40 times higher in the fertilized system at 19.34-24.67 mol N[O.sub.3]-N x [ha.sup.-1] x [h.sup.-1]. Dissimilatory nitrate reduction to ammonium was evident in both systems during the first 48 h of the tracer additions but < 1% of incoming [sup.15]N[O.sub.3.sup.-] was exported as [sup.15]N[H.sub.4.sup.+]. Nitrification rates calculated by [sup.15]N[O.sub.3.sup.-] dilution were 6.05 and 4.46 mol x [ha.sup.-1] x [h.sup.-1] in the fertilized system but could not be accurately calculated in the reference system due to rapid ( Key words: biogeochemistry; eutrophication; New England, USA; nitrogen processing efficiency; salt marsh; stable isotopes.

Published
2009

24. Quantifying sources of variability in infancy research using the Infant-Directed-Speech preference

Author

ManyBabies Consortium, T, Frank, M, Jane Alcock, K, Arias-Trejo, N, Aschersleben, G, Baldwin, D, Barbu, S, Bergelson, E, Bergmann, C, Black, A, Blything, R, Böhland, M, Bolitho, P, Borovsky, A, Brady, S, Braun, B, Brown, A, Byers-Heinlein, K, Campbell, L, Cashon, C, Choi, M, Christodoulou, J, Cirelli, L, Conte, S, Cordes, S, Cox, C, Cristia, A, Cusack, R, Davies, C, de Klerk, M, Delle Luche, C, de Ruiter, L, Dinakar, D, Dixon, K, Durier, V, Durrant, S, Fennell, C, Ferguson, B, Ferry, A, Fikkert, P, Flanagan, T, Floccia, C, Foley, M, Fritzsche, T, Frost, R, Gampe, A, Gervain, J, Gonzalez-Gomez, N, Gupta, A, Hahn, L, Kiley Hamlin, J, Hannon, E, Havron, N, Hay, J, Hernik, M, Höhle, B, Houston, D, Howard, L, Ishikawa, M, Itakura, S, Jackson, I, Jakobsen, K, Jarto, M, Johnson, S, Junge, C, Karadag, D, Kartushina, N, Kellier, D, Keren-Portnoy, T, Klassen, K, Kline, M, Ko, E, Kominsky, J, Kosie, J, Kragness, H, Krieger, A, Krieger, F, Lany, J, Lazo, R, Lee, M, Leservoisier, C, Levelt, C, Lew-Williams, C, Lippold, M, Liszkowski, U, Liu, L, Luke, S, Lundwall, R, MACCHI CASSIA, V, Mani, N, Marino, C, Martin, A, Mastroberardino, M, Mateu, V, Mayor, J, Menn, K, Michel, C, Moriguchi, Y, Morris, B, Nave, K, Nazzi, T, Noble, C, Novack, M, Olesen, N, John Orena, A, Ota, M, Panneton, R, Parvanezadeh Esfahani, S, Paulus, M, Pletti, C, Polka, L, Potter, C, Rabagliati, H, Ramachandran, S, Rennels, J, Reynolds, G, Roth, K, Rothwell, C, Rubez, D, Ryjova, Y, Saffran, J, Sato, A, Savelkouls, S, Schachner, A, Schafer, G, Schreiner, M, Seidl, A, Shukla, M, Simpson, E, Singh, L, Skarabela, B, Soley, G, Sundara, M, Theakston, A, Thompson, A, Trainor, L, Trehub, S, Trøan, A, Sin-Mei Tsui, A, Twomey, K, Von Holzen, K, Wang, Y, Waxman, S, Werker, J, Wermelinger, S, Woolard, A, Yurovsky, D, Zahner, K, Zettersten, M, Soderstrom, M, The ManyBabies Consortium, Michael C. Frank, Katherine Jane Alcock, Natalia Arias-Trejo, Gisa Aschersleben, Dare Baldwin, Stéphanie Barbu, Elika Bergelson, Christina Bergmann, Alexis K. Black, Ryan Blything, Maximilian P. Böhland, Petra Bolitho, Arielle Borovsky, Shannon M. Brady, Bettina Braun, Anna Brown, Krista Byers-Heinlein, Linda E. Campbell, Cara Cashon, Mihye Choi, Joan Christodoulou, Laura K. Cirelli, Stefania Conte, Sara Cordes, Christopher Cox, Alejandrina Cristia, Rhodri Cusack, Catherine Davies, Maartje de Klerk, Claire Delle Luche, Laura de Ruiter, Dhanya Dinakar, Kate C. Dixon, Virginie Durier, Samantha Durrant, Christopher Fennell, Brock Ferguson, Alissa Ferry, Paula Fikkert, Teresa Flanagan, Caroline Floccia, Megan Foley, Tom Fritzsche, Rebecca L. A. Frost, Anja Gampe, Judit Gervain, Nayeli Gonzalez-Gomez, Anna Gupta, Laura E. Hahn, J. Kiley Hamlin, Erin E. Hannon, Naomi Havron, Jessica Hay, Mikołaj Hernik, Barbara Höhle, Derek M. Houston, Lauren H. Howard, Mitsuhiko Ishikawa, Shoji Itakura, Iain Jackson, Krisztina V. Jakobsen, Marianna Jarto, Scott P. Johnson, Caroline Junge, Didar Karadag, Natalia Kartushina, Danielle J. Kellier, Tamar Keren-Portnoy, Kelsey Klassen, Melissa Kline, Eon-Suk Ko, Jonathan F. Kominsky, Jessica E. Kosie, Haley E. Kragness, Andrea A. R. Krieger, Florian Krieger, Jill Lany, Roberto J. Lazo, Michelle Lee, Chloé Leservoisier, Claartje Levelt, Casey Lew-Williams, Matthias Lippold, Ulf Liszkowski, Liquan Liu, Steven G. Luke, Rebecca A. Lundwall, Viola Macchi Cassia, Nivedita Mani, Caterina Marino, Alia Martin, Meghan Mastroberardino, Victoria Mateu, Julien Mayor, Katharina Menn, Christine Michel, Yusuke Moriguchi, Benjamin Morris, Karli M. Nave, Thierry Nazzi, Claire Noble, Miriam A. Novack, Nonah M. Olesen, Adriel John Orena, Mitsuhiko Ota, Robin Panneton, Sara Parvanezadeh Esfahani, Markus Paulus, Carolina Pletti, Linda Polka, Christine Potter, Hugh Rabagliati, Shruthilaya Ramachandran, Jennifer L. Rennels, Greg D. Reynolds, Kelly C. Roth, Charlotte Rothwell, Doroteja Rubez, Yana Ryjova, Jenny Saffran, Ayumi Sato, Sophie Savelkouls, Adena Schachner, Graham Schafer, Melanie S. Schreiner, Amanda Seidl, Mohinish Shukla, Elizabeth A. Simpson, Leher Singh, Barbora Skarabela, Gaye Soley, Megha Sundara, Anna Theakston, Abbie Thompson, Laurel J. Trainor, Sandra E. Trehub, Anna S. Trøan, Angeline Sin-Mei Tsui, Katherine Twomey, Katie Von Holzen, Yuanyuan Wang, Sandra Waxman, Janet F. Werker, Stephanie Wermelinger, Alix Woolard, Daniel Yurovsky, Katharina Zahner, Martin Zettersten, Melanie Soderstrom, ManyBabies Consortium, T, Frank, M, Jane Alcock, K, Arias-Trejo, N, Aschersleben, G, Baldwin, D, Barbu, S, Bergelson, E, Bergmann, C, Black, A, Blything, R, Böhland, M, Bolitho, P, Borovsky, A, Brady, S, Braun, B, Brown, A, Byers-Heinlein, K, Campbell, L, Cashon, C, Choi, M, Christodoulou, J, Cirelli, L, Conte, S, Cordes, S, Cox, C, Cristia, A, Cusack, R, Davies, C, de Klerk, M, Delle Luche, C, de Ruiter, L, Dinakar, D, Dixon, K, Durier, V, Durrant, S, Fennell, C, Ferguson, B, Ferry, A, Fikkert, P, Flanagan, T, Floccia, C, Foley, M, Fritzsche, T, Frost, R, Gampe, A, Gervain, J, Gonzalez-Gomez, N, Gupta, A, Hahn, L, Kiley Hamlin, J, Hannon, E, Havron, N, Hay, J, Hernik, M, Höhle, B, Houston, D, Howard, L, Ishikawa, M, Itakura, S, Jackson, I, Jakobsen, K, Jarto, M, Johnson, S, Junge, C, Karadag, D, Kartushina, N, Kellier, D, Keren-Portnoy, T, Klassen, K, Kline, M, Ko, E, Kominsky, J, Kosie, J, Kragness, H, Krieger, A, Krieger, F, Lany, J, Lazo, R, Lee, M, Leservoisier, C, Levelt, C, Lew-Williams, C, Lippold, M, Liszkowski, U, Liu, L, Luke, S, Lundwall, R, MACCHI CASSIA, V, Mani, N, Marino, C, Martin, A, Mastroberardino, M, Mateu, V, Mayor, J, Menn, K, Michel, C, Moriguchi, Y, Morris, B, Nave, K, Nazzi, T, Noble, C, Novack, M, Olesen, N, John Orena, A, Ota, M, Panneton, R, Parvanezadeh Esfahani, S, Paulus, M, Pletti, C, Polka, L, Potter, C, Rabagliati, H, Ramachandran, S, Rennels, J, Reynolds, G, Roth, K, Rothwell, C, Rubez, D, Ryjova, Y, Saffran, J, Sato, A, Savelkouls, S, Schachner, A, Schafer, G, Schreiner, M, Seidl, A, Shukla, M, Simpson, E, Singh, L, Skarabela, B, Soley, G, Sundara, M, Theakston, A, Thompson, A, Trainor, L, Trehub, S, Trøan, A, Sin-Mei Tsui, A, Twomey, K, Von Holzen, K, Wang, Y, Waxman, S, Werker, J, Wermelinger, S, Woolard, A, Yurovsky, D, Zahner, K, Zettersten, M, Soderstrom, M, The ManyBabies Consortium, Michael C. Frank, Katherine Jane Alcock, Natalia Arias-Trejo, Gisa Aschersleben, Dare Baldwin, Stéphanie Barbu, Elika Bergelson, Christina Bergmann, Alexis K. Black, Ryan Blything, Maximilian P. Böhland, Petra Bolitho, Arielle Borovsky, Shannon M. Brady, Bettina Braun, Anna Brown, Krista Byers-Heinlein, Linda E. Campbell, Cara Cashon, Mihye Choi, Joan Christodoulou, Laura K. Cirelli, Stefania Conte, Sara Cordes, Christopher Cox, Alejandrina Cristia, Rhodri Cusack, Catherine Davies, Maartje de Klerk, Claire Delle Luche, Laura de Ruiter, Dhanya Dinakar, Kate C. Dixon, Virginie Durier, Samantha Durrant, Christopher Fennell, Brock Ferguson, Alissa Ferry, Paula Fikkert, Teresa Flanagan, Caroline Floccia, Megan Foley, Tom Fritzsche, Rebecca L. A. Frost, Anja Gampe, Judit Gervain, Nayeli Gonzalez-Gomez, Anna Gupta, Laura E. Hahn, J. Kiley Hamlin, Erin E. Hannon, Naomi Havron, Jessica Hay, Mikołaj Hernik, Barbara Höhle, Derek M. Houston, Lauren H. Howard, Mitsuhiko Ishikawa, Shoji Itakura, Iain Jackson, Krisztina V. Jakobsen, Marianna Jarto, Scott P. Johnson, Caroline Junge, Didar Karadag, Natalia Kartushina, Danielle J. Kellier, Tamar Keren-Portnoy, Kelsey Klassen, Melissa Kline, Eon-Suk Ko, Jonathan F. Kominsky, Jessica E. Kosie, Haley E. Kragness, Andrea A. R. Krieger, Florian Krieger, Jill Lany, Roberto J. Lazo, Michelle Lee, Chloé Leservoisier, Claartje Levelt, Casey Lew-Williams, Matthias Lippold, Ulf Liszkowski, Liquan Liu, Steven G. Luke, Rebecca A. Lundwall, Viola Macchi Cassia, Nivedita Mani, Caterina Marino, Alia Martin, Meghan Mastroberardino, Victoria Mateu, Julien Mayor, Katharina Menn, Christine Michel, Yusuke Moriguchi, Benjamin Morris, Karli M. Nave, Thierry Nazzi, Claire Noble, Miriam A. Novack, Nonah M. Olesen, Adriel John Orena, Mitsuhiko Ota, Robin Panneton, Sara Parvanezadeh Esfahani, Markus Paulus, Carolina Pletti, Linda Polka, Christine Potter, Hugh Rabagliati, Shruthilaya Ramachandran, Jennifer L. Rennels, Greg D. Reynolds, Kelly C. Roth, Charlotte Rothwell, Doroteja Rubez, Yana Ryjova, Jenny Saffran, Ayumi Sato, Sophie Savelkouls, Adena Schachner, Graham Schafer, Melanie S. Schreiner, Amanda Seidl, Mohinish Shukla, Elizabeth A. Simpson, Leher Singh, Barbora Skarabela, Gaye Soley, Megha Sundara, Anna Theakston, Abbie Thompson, Laurel J. Trainor, Sandra E. Trehub, Anna S. Trøan, Angeline Sin-Mei Tsui, Katherine Twomey, Katie Von Holzen, Yuanyuan Wang, Sandra Waxman, Janet F. Werker, Stephanie Wermelinger, Alix Woolard, Daniel Yurovsky, Katharina Zahner, Martin Zettersten, and Melanie Soderstrom

Abstract

Psychological scientists have become increasingly concerned with issues related to methodology and replicability, and infancy researchers in particular face specific challenges related to replicability: For example, high-powered studies are difficult to conduct, testing conditions vary across labs, and different labs have access to different infant populations. Addressing these concerns, we report on a large-scale, multisite study aimed at (a) assessing the overall replicability of a single theoretically important phenomenon and (b) examining methodological, cultural, and developmental moderators. We focus on infants’ preference for infant-directed speech (IDS) over adult-directed speech (ADS). Stimuli of mothers speaking to their infants and to an adult in North American English were created using seminaturalistic laboratory-based audio recordings. Infants’ relative preference for IDS and ADS was assessed across 67 laboratories in North America, Europe, Australia, and Asia using the three common methods for measuring infants’ discrimination (head-turn preference, central fixation, and eye tracking). The overall meta-analytic effect size (Cohen’s d) was 0.35, 95% confidence interval = [0.29, 0.42], which was reliably above zero but smaller than the meta-analytic mean computed from previous literature (0.67). The IDS preference was significantly stronger in older children, in those children for whom the stimuli matched their native language and dialect, and in data from labs using the head-turn preference procedure. Together, these findings replicate the IDS preference but suggest that its magnitude is modulated by development, native-language experience, and testing procedure.

Published
2020

34. Circadian and ultradian variation in pancreatic secretion of meal-fed pigs after weaning

Author

Thaela, M.-J., Jensen, M.S., Cornelissen, G., Halberg, F., Noddegaard, F., Jakobsen, K., and Pierzynowski, S.G.

Subjects
Swine -- Physiological aspects, Pancreas -- Physiological aspects, Animal nutrition -- Research, Zoology and wildlife conservation
Abstract

We studied the time structure of pancreatic secretion in two experiments involving seven 6- to 7-wk-old intact male pigs, surgically fitted with a jugular vein catheter for blood sampling, pancreatic catheter, and a duodenal T-cannula for chronic pancreatic juice sampling for 72 h at 30- to 60-min intervals. Pigs were kept in metabolic cages in a regimen of 12 h of light alternating with 12 h of darkness and were fed at 0800, 1500, and 2200 daily a standard diet based on barley, soybean meal, and fish meal. Beginning 4 d after surgical recovery, three 24-h collections of pancreatic juice and blood sampling were begun either at 0700 or 0800 every 2nd d for 5 d. Pancreatic secretion exhibited a pattern characterized by distinct meal-related secretions of the first phase (postprandial), containing large amounts of protein and enzymes (trypsin and chymotrypsin), and by non-food-stimulated secretions of the second phase with less protein and enzymes. During the dark span, the first phase was practically absent; the response of the pancreatic secretion to the 2200 meal was not very pronounced. Apart from the anticipated circadian rhythm demonstrable by single cosinor analysis on a group basis, a prominent 8-h component was almost invariably statistically significant. Moreover, an approximately 3.43-h component was also prominent. These data indicate that pancreatic secretions are circadian periodic and that their response to a standard meal is also circadian-stage dependent. The circadian components may have been free-running because the pigs were adjusting themselves to the changing phase and that resulted in the period being different from exactly 24 h. Key Words: Pancreas, Circadian Rhythm, Protein, Trypsin, Pigs

Published
1998

37. Reviews and synthesis: Carbon capture and storage monitoring – an integrated biological, biophysical and chemical approach

Author

Hicks, N., Vik, U., Taylor, P., Ladoukakis, E., Park, J., Kolisis, F., Stahl, H., and Jakobsen, K. S.

Abstract

Carbon capture and storage (CCS) is a developing technology that seeks to mitigate against the impact of increasing anthropogenic carbon dioxide (CO2) production by capturing CO2 from large point source emitters. After capture the CO2 is compressed and transported to a reservoir where it is stored for geological time scales. Potential leakages from CCS projects, where stored CO2 migrates through the overlaying sediments, are likely to have severe implications on benthic and marine ecosystems. Nonetheless, prokaryotic response to elevated CO2 concentrations has been suggested as one of the first detectable warnings if a CO2 leakage should occur. Applying properties of prokaryotic communities (i.e. community composition and metabolic status) as a novel CO2 monitoring application is highly reliable within a multidisciplinary framework, where deviations from the baseline can easily be identified. In this paper we review current knowledge about the impact of CO2 leakages on marine sediments from a multidisciplinary-based monitoring perspective. We focus on aspects from the fields of biology, geophysics, and chemistry, and discuss a case study example. We argue the importance of an integrative multidisciplinary approach, incorporating biogeochemistry, geophysics, microbial ecology and modelling, with a particular emphasis on metagenomic techniques and novel bioinformatics, for future CCS monitoring. Within this framework, we consider that an effective CCS monitoring programme will ensure that large-scale leakages with potentially devastating effects for the overlaying ecosystem are avoided. Furthermore, the multidisciplinary approach suggested here for CCS monitoring is generic, and can be adapted to other systems of interest.

Published
2018

43. Brief Report:Clusters and Trajectories Across the Autism and/or ADHD Spectrum

Author

LaBianca, S, Pagsberg, A K, Jakobsen, K D, Demur, A B, Bartalan, M, LaBianca, J, Werge, T, LaBianca, S, Pagsberg, A K, Jakobsen, K D, Demur, A B, Bartalan, M, LaBianca, J, and Werge, T

Abstract

Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) frequently co-occur and show high genetic correlation. With the introduction of DSM-5, there is a new concept of an ASD and/or ADHD spectrum (ASD/ADHD). This study aimed to identify predictors of severity and need of healthcare within this spectrum. 39 families with multiple individuals affected by ASD/ADHD were recruited from a psychiatric clinic. Diagnoses, functional and demographic characteristics were retrieved from journals while hospital admissions were identified in the Danish health register. An estimated fraction of 31% ASD/ADHD patients had never been hospitalized and 35% remained undiagnosed despite hospitalization. Cluster analysis identified trajectories that discriminate age of diagnosis, educational attainment to degree of severity, need of hospitalization and genetic risk.

Published
2018

46. Schizophrenia genetic variants are not associated with intelligence

Author

van Scheltinga, Af, Bakker, Sc, van Haren, Ne, Derks, Em, Buizer Voskamp, Je, Cahn, W, Ripke, S, Sanders, A, Kendler, K, Levinson, D, Sklar, P, Holmans, P, Lin, D., Duan, J, Ophoff, R, Andreassen, O, Scolnick, E, Cichon, S, St Clair, D, Corvin, A, Gurling, H, Werge, T, Rujescu, D, Blackwood, D, Pato, C, Malhotra, A, Purcell, S, Dudbridge, F, Neale, B, Rossin, L, Visscher, P, Posthuma, D, Ruderfer, D, Fanous, A, Stefansson, H, Steinberg, S, Mowry, B, Golimbet, V, Hert, De, M, Jonsson, E, Bitter, I, Pietilainen, O, Collier, D, Tosato, Sarah, Agartz, I, Albus, M, Alexander, M, Amdur, R, Amin, F, Bass, N, Bergen, S, Black, D, Børglum, A, Brown, M, Bruggeman, R, Buccola, N, Byerley, W, Cantor, R, Carr, V, Catts, S, Choudhury, K, Cloninger, C, Cormican, P, Craddock, N, Danoy, P, Datta, S, Haan, De, L, Demontis, D, Dikeos, D, Djurovic, S, Donnelly, P, Donohoe, G, Duong, L, Dwyer, S, Fink Jensen, A, Freedman, R, Freimer, N, Friedl, M, Georgieva, L, Giegling, I, Gill, M, Glenthøj, B, Godard, S, Hamshere, M, Hansen, M, Hansen, T, Hartmann, A, Henskens, F, Hougaard, D, Hultman, C, Ingason, A, Jablensky, A, Jakobsen, K, Jay, M, Jurgens, G, Kahn, R, Keller, M, Kenis, G, Kenny, E, Kim, Y, Kirov, G, Konnerth, H, Konte, B, Krabbendam, L, Krasucki, R, Lasseter, V, Laurent, C, Lawrence, J, Lencz, T, Lerer, F, Liang, K, Lichtenstein, P, Lieberman, J, Linszen, D, Lonnqvist, J, Loughland, C, Maclean, A, Maher, B, Maier, W, Mallet, J, Malloy, P, Mattheisen, M, Mattingsdal, M, Mcghee, K, Mcgrath, J, Mcintosh, A, Mclean, D, Mcquillin, A, Melle, I, Michie, P, Milanova, V, Morris, D, Mors, O, Mortensen, P, Moskvina, V, Muglia, P, Myin Germeys, I, Nertney, D, Nestadt, G, Nielsen, J, Nikolov, I, Nordentoft, M, Norton, N, Nothen, M, O'Dushlaine, C, Olincy, A, Olsen, L, O'Neill, F, Ørntoft, T, Owen, M, Pantelis, C, Papadimitriou, G, Pato, M, Peltonen, L, Petursson, H, Pickard, B, Pimm, J, Pulver, A, Puri, V, Quested, D, Quinn, E, Rasmussen, H, Rethelyi, Jm, Ribble, R, Rietschel, M, Riley, B, Ruggeri, Mirella, Schall, U, Schulze, T, Schwab, S, Scott, R, Shi, J, Sigurdsson, E, Silverman, J, Spencer, C, Stefansson, K, Strange, A, Strengman, E, Stroup, T, Suvisaari, J, Terenius, L, Thirumalai, S, Thygesen, J, Timm, S, Toncheva, D, van den Oord, E, van Os, J, van Winkel, R, Veldink, J, Walsh, D, Wang, A, Wiersma, D, Wildenauer, D, Williams, H, Williams, N, Wormley, B, Zammit, S, Sullivan, P, O'Donovan, M, Daly, M, Gejman, P), Ophoff, Ra, Kahn, Rs, Functional Genomics, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Adult Psychiatry

Subjects
Oncology, Adult, Male, Psychosis, medicine.medical_specialty, Multifactorial Inheritance, DNA Copy Number Variations, Endophenotypes, Schizophrenia (object-oriented programming), Intelligence, SNP, Single-nucleotide polymorphism, Genome-wide association study, polygenic, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, Cognition, Internal medicine, mental disorders, medicine, Humans, Genetic Predisposition to Disease, deletion, Cognitive decline, Applied Psychology, Genetic association, Genetics, Wechsler Scales, Wechsler Adult Intelligence Scale, medicine.disease, endophenotype, Psychiatry and Mental health, duplication, IQ, Endophenotype, Schizophrenia, Female, Psychology, cognition, schizophrenia, Genome-Wide Association Study
Abstract

BackgroundSchizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits. Therefore, we hypothesized that genetic variants associated with schizophrenia, including copy number variants (CNVs) and a polygenic schizophrenia (risk) score (PSS), may influence intelligence.MethodIQ was estimated with the Wechsler Adult Intelligence Scale (WAIS). CNVs were determined from single nucleotide polymorphism (SNP) data using the QuantiSNP and PennCNV algorithms. For the PSS, odds ratios for genome-wide SNP data were calculated in a sample collected by the Psychiatric Genome-Wide Association Study (GWAS) Consortium (8690 schizophrenia patients and 11 831 controls). These were used to calculate individual PSSs in our independent sample of 350 schizophrenia patients and 322 healthy controls.ResultsAlthough significantly more genes were disrupted by deletions in schizophrenia patients compared to controls (p = 0.009), there was no effect of CNV measures on IQ. The PSS was associated with disease status (R2 = 0.055, p = 2.1 × 10−7) and with IQ in the entire sample (R2 = 0.018, p = 0.0008) but the effect on IQ disappeared after correction for disease status.ConclusionsOur data suggest that rare and common schizophrenia-associated variants do not explain the variation in IQ in healthy subjects or in schizophrenia patients. Thus, reductions in IQ in schizophrenia patients may be secondary to other processes related to schizophrenia risk.

Published
2013
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48. AtlantOS D7.1: Data Harmonization Report: Report containing recommendation on data harmonization

Author

Koop-Jakobsen, K., Waldmann, C., Huber, V., Harscoat, V., and Pouliquen, S.

Subjects
Data processing, Harmonization, Data management planning and strategy development
Abstract

AtlantOS WP7 is dedicated to improve harmonization of data management procedures, and thereby improve the quality, interoperability and discoverability of data resources in AtlantOS. To improve harmonization, AtlantOS WP7 works on multiple levels; a) WP7 has identified selected areas, where significant improvements of interoperability can be obtained. This has resulted in the formulation of a common agreement stating a set of specific minimum standards, which shall ensure cross platform coherence. This includes minimum standards for use of identifiers for platforms and institutions, metadata including vocabularies, quality control and dissemination means. Furthermore, guidelines regarding DOI assignment, catalogue techniques and vocabulary use in AtlantOS have been formulated. b) AtlantOS has formulated and installed a Data Management Plan (DMP) setting the framework for handling and dissemination of AtlantOS data. This was the first step towards improved harmonization and includes an overview of the Data Landscape, prioritization of Essential Variables for AtlantOS, regulations regarding open access to data and recommendations on use of standards. c) AtlantOS WP7 is initiating investigations of the use of GEOSS services, both for technical broker solutions to improve harmonization as well as for dissemination of AtlantOS data resources in an interdisciplinary global context. d) AtlantOS is also working on improving the transcontinental data sharing. A workshop is planned for in 2017 specifically targeting improvement of transcontinental sharing of data from the Atlantic Ocean. We here present the preliminary incentives for improving the transatlantic collaboration. EU; European Union’s Horizon 2020 research and innovation programme under grant agreement no 633211. Published Current 14.a Mature Method Specification of criteria

Published
2016

49. Genome-wide association study identifies five new schizophrenia loci

Author

Ripke, S., Sanders, A. R., Kendler, K. S., Levinson, D. F., Sklar, P., Holmans, P. A., Lin, D., Duan, J., Ophoff, R. A., Andreassen, O. A., Scolnick, E., Cichon, S., Clair, D. S., Corvin, A., Gurling, H., Werge, T., Rujescu, D., D. H. R., Pato, C. N., Malhotra, A. K., Purcell, S., Dudbridge, F., Neale, B. M., Rossin, L., Visscher, P. M., Posthuma, D., Ruderfer, D. M., Fanous, A., Stefansson, H., Steinberg, S., Mowry, B. J., Golimbet, V., Hert, M. D., Jönsson, E. G., Bitter, I., O. P. H., Collier, D. A., Tosato, Sarah, Agartz, I., Albus, M., Alexander, M., Amdur, R. L., Amin, F., Bass, N., Bergen, S. E., Black, D. W., Børglum, A. D., Brown, M. A., Bruggeman, R., Buccola, N. G., Byerley, W. F., Cahn, W., Cantor, R. M., Carr, V. J., Catts, S. V., Choudhury, K., Cloninger, C. R., Cormican, P., Craddock, N., Danoy, P. A., Datta, S., Haan, L. d., Demontis, D., Dikeos, D., Djurovic, S., Donnelly, P., Donohoe, G., Duong, L., Dwyer, S., Fink Jensen, A., Freedman, R., Freimer, N. B., Friedl, M., Georgieva, L., Giegling, I., Gill, M., Glenthøj, B., Godard, S., Hamshere, M., Hansen, M., Hansen, T., Hartmann, A. M., Henskens, F. A., Hougaard, D. M., Hultman, C. M., Ingason, A., Jablensky, A. V., Jakobsen, K. D., Jay, M., Jürgens, G., Kahn, R. S., Keller, M. C., Kenis, G., Kenny, E., Kim, Y., Kirov, G. K., Konnerth, H., Konte, B., Krabbendam, L., Krasucki, R., Lasseter, V. K., Laurent, C., Lawrence, J., Lencz, T., Lerer, F. B., Liang, K., Lichtenstein, P., Lieberman, J. A., Linszen, D. H., Lönnqvist, J., Loughland, C. M., Maclean, A. W., Maher, B. S., Maier, W., Mallet, J., Malloy, P., Mattheisen, M., Mattingsdal, M., Mcghee, K. A., Mcgrath, J. J., Mcintosh, A., Mclean, D. E., Mcquillin, A., Melle, I., Michie, P. T., Milanova, V., Morris, D. W., Mors, O., Mortensen, P. B., Moskvina, V., Muglia, P., Myin Germeys, I., Nertney, D. A., Nestadt, G., Nielsen, J., Nikolov, I., Nordentoft, M., Norton, N., Nöthen, M. M., O'Dushlaine, C. T., Olincy, A., Olsen, L., O'Neill, F. A., Orntoft, T. F., Owen, M. J., Pantelis, C., Papadimitriou, G., Pato, M. T., Peltonen, L., Petursson, H., Pickard, B., Pimm, J., Pulver, A. E., Puri, V., Quested, D., Quinn, E. M., Rasmussen, H. B., Réthelyi, J. M., Ribble, R., Rietschel, M., Riley, B. P., Ruggeri, Mirella, Schall, U., Schulze, T. G., Schwab, S. G., Scott, R. J., Shi, J., Sigurdsson, E., Silverman, J. M., C. C. A., Stefansson, K., Strange, A., Strengman, E., Stroup, T. S., Suvisaari, J., Terenius, L., Thirumalai, S., Thygesen, J. H., Timm, S., Toncheva, D., Den, E. v., J. v., Os, Winkel, R. v., Veldink, J., Walsh, D., Wang, A. G., Wiersma, D., Wildenauer, D. B., Williams, H. J., Williams, N. M., Wormley, B., Zammit, S., Sullivan, P. F., O'Donovan, M. C., Daly, M. J., Gejman, P. V., Genome Wide, S. P., ANS - Amsterdam Neuroscience, Adult Psychiatry, Functional Genomics, Educational Neuroscience, Clinical Child and Family Studies, Neuroscience Campus Amsterdam - integrative Analysis & Modeling, Neuroscience Campus Amsterdam - Attention & Cognition, LEARN! - Brain, learning and development, Psychiatrie & Neuropsychologie, and RS: MHeNs School for Mental Health and Neuroscience

Subjects
Male, Gene Dosage, Biology, VARIANTS, SUSCEPTIBILITY, ANCESTRY, Polymorphism, Single Nucleotide, Article, Linkage Disequilibrium, White People, 03 medical and health sciences, 0302 clinical medicine, microRNA, Genetics, Humans, Genetic Predisposition to Disease, Alleles, 030304 developmental biology, 0303 health sciences, Genome, Genome, Human, HERITABILITY, MICRORNA, BIPOLAR DISORDER, 3. Good health, schizophrenia, COMMON SNPS EXPLAIN, MicroRNAs, INDIVIDUALS, Logistic Models, Gene Expression Regulation, Haplotypes, LARGE PROPORTION, Genetic Loci, Case-Control Studies, Mutation, Female, HUMAN HEIGHT, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 × 10 -11) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10 -9), ANK3 (rs10994359, P = 2.5 × 10 -8) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10 -9). © 2011 Nature America, Inc. All rights reserved.

Published
2011
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