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Document Type
- Article (8)
- Master's Thesis (1)
Keywords
- Childhood traits and disorders (1)
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Institute
The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia
(2019)
Middeldorp, Christel M. ; Mahajan, Anubha ; Horikoshi, Momoko ; Robertson, Neil R. ; Beaumont, Robin N. ; Bradfield, Jonathan P. ; Bustamante, Mariona ; Cousminer, Diana L. ; Day, Felix R. ; De Silva, N. Maneka ; Guxens, Monica ; Mook-Kanamori, Dennis O. ; St Pourcain, Beate ; Warrington, Nicole M. ; Adair, Linda S. ; Ahlqvist, Emma ; Ahluwalia, Tarunveer Singh ; Almgren, Peter ; Ang, Wei ; Atalay, Mustafa ; Auvinen, Juha ; Bartels, Meike ; Beckmann, Jacques S. ; Bilbao, Jose Ramon ; Bond, Tom ; Borja, Judith B. ; Cavadino, Alana ; Charoen, Pimphen ; Chen, Zhanghua ; Coin, Lachlan ; Cooper, Cyrus ; Curtin, John A. ; Custovic, Adnan ; Das, Shikta ; Davies, Gareth E. ; Dedoussis, George V. ; Duijts, Liesbeth ; Eastwood, Peter R. ; Eliasen, Anders U. ; Elliott, Paul ; Eriksson, Johan G. ; Estivill, Xavier ; Fadista, Joao ; Fedko, Iryna O. ; Frayling, Timothy M. ; Gaillard, Romy ; Gauderman, W. James ; Geller, Frank ; Gilliland, Frank ; Gilsanz, Vincente ; Granell, Raquel ; Grarup, Niels ; Groop, Leif ; Hadley, Dexter ; Hakonarson, Hakon ; Hansen, Torben ; Hartman, Catharina A. ; Hattersley, Andrew T. ; Hayes, M. Geoffrey ; Hebebrand, Johannes ; Heinrich, Joachim ; Helgeland, Oyvind ; Henders, Anjali K. ; Henderson, John ; Henriksen, Tine B. ; Hirschhorn, Joel N. ; Hivert, Marie-France ; Hocher, Berthold ; Holloway, John W. ; Holt, Patrick ; Hottenga, Jouke-Jan ; Hypponen, Elina ; Iniguez, Carmen ; Johansson, Stefan ; Jugessur, Astanand ; Kahonen, Mika ; Kalkwarf, Heidi J. ; Kaprio, Jaakko ; Karhunen, Ville ; Kemp, John P. ; Kerkhof, Marjan ; Koppelman, Gerard H. ; Korner, Antje ; Kotecha, Sailesh ; Kreiner-Moller, Eskil ; Kulohoma, Benard ; Kumar, Ashish ; Kutalik, Zoltan ; Lahti, Jari ; Lappe, Joan M. ; Larsson, Henrik ; Lehtimaki, Terho ; Lewin, Alexandra M. ; Li, Jin ; Lichtenstein, Paul ; Lindgren, Cecilia M. ; Lindi, Virpi ; Linneberg, Allan ; Liu, Xueping ; Liu, Jun ; Lowe, William L. ; Lundstrom, Sebastian ; Lyytikainen, Leo-Pekka ; Ma, Ronald C. W. ; Mace, Aurelien ; Magi, Reedik ; Magnus, Per ; Mamun, Abdullah A. ; Mannikko, Minna ; Martin, Nicholas G. ; Mbarek, Hamdi ; McCarthy, Nina S. ; Medland, Sarah E. ; Melbye, Mads ; Melen, Erik ; Mohlke, Karen L. ; Monnereau, Claire ; Morgen, Camilla S. ; Morris, Andrew P. ; Murray, Jeffrey C. ; Myhre, Ronny ; Najman, Jackob M. ; Nivard, Michel G. ; Nohr, Ellen A. ; Nolte, Ilja M. ; Ntalla, Ioanna ; Oberfield, Sharon E. ; Oken, Emily ; Oldehinkel, Albertine J. ; Pahkala, Katja ; Palviainen, Teemu ; Panoutsopoulou, Kalliope ; Pedersen, Oluf ; Pennell, Craig E. ; Pershagen, Goran ; Pitkanen, Niina ; Plomin, Robert ; Power, Christine ; Prasad, Rashmi B. ; Prokopenko, Inga ; Pulkkinen, Lea ; Raikkonen, Katri ; Raitakari, Olli T. ; Reynolds, Rebecca M. ; Richmond, Rebecca C. ; Rivadeneira, Fernando ; Rodriguez, Alina ; Rose, Richard J. ; Salem, Rany ; Santa-Marina, Loreto ; Saw, Seang-Mei ; Schnurr, Theresia M. ; Scott, James G. ; Selzam, Saskia ; Shepherd, John A. ; Simpson, Angela ; Skotte, Line ; Sleiman, Patrick M. A. ; Snieder, Harold ; Sorensen, Thorkild I. A. ; Standl, Marie ; Steegers, Eric A. P. ; Strachan, David P. ; Straker, Leon ; Strandberg, Timo ; Taylor, Michelle ; Teo, Yik-Ying ; Thiering, Elisabeth ; Torrent, Maties ; Tyrrell, Jessica ; Uitterlinden, Andre G. ; van Beijsterveldt, Toos ; van der Most, Peter J. ; van Duijn, Cornelia M. ; Viikari, Jorma ; Vilor-Tejedor, Natalia ; Vogelezang, Suzanne ; Vonk, Judith M. ; Vrijkotte, Tanja G. M. ; Vuoksimaa, Eero ; Wang, Carol A. ; Watkins, William J. ; Wichmann, H-Erich ; Willemsen, Gonneke ; Williams, Gail M. ; Wilson, James F. ; Wray, Naomi R. ; Xu, Shujing ; Xu, Cheng-Jian ; Yaghootkar, Hanieh ; Yi, Lu ; Zafarmand, Mohammad Hadi ; Zeggini, Eleftheria ; Zemel, Babette S. ; Hinney, Anke ; Lakka, Timo A. ; Whitehouse, Andrew J. O. ; Sunyer, Jordi ; Widen, Elisabeth E. ; Feenstra, Bjarke ; Sebert, Sylvain ; Jacobsson, Bo ; Njolstad, Pal R. ; Stoltenberg, Camilla ; Smith, George Davey ; Lawlor, Debbie A. ; Paternoster, Lavinia ; Timpson, Nicholas J. ; Ong, Ken K. ; Bisgaard, Hans ; Bonnelykke, Klaus ; Jaddoe, Vincent W. V. ; Tiemeier, Henning ; Jarvelin, Marjo-Riitta ; Evans, David M. ; Perry, John R. B. ; Grant, Struan F. A. ; Boomsma, Dorret I. ; Freathy, Rachel M. ; McCarthy, Mark I. ; Felix, Janine F.
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
Horikoshi, Momoko ; Yaghootkar, Hanieh ; Mook-Kanamori, Dennis O. ; Sovio, Ulla ; Taal, H. Rob ; Hennig, Branwen J. ; Bradfield, Jonathan P. ; St Pourcain, Beate ; Evans, David M. ; Charoen, Pimphen ; Kaakinen, Marika ; Cousminer, Diana L. ; Lehtimaki, Terho ; Kreiner-Moller, Eskil ; Warrington, Nicole M. ; Bustamante, Mariona ; Feenstra, Bjarke ; Berry, Diane J. ; Thiering, Elisabeth ; Pfab, Thiemo ; Barton, Sheila J. ; Shields, Beverley M. ; Kerkhof, Marjan ; van Leeuwen, Elisabeth M. ; Fulford, Anthony J. ; Kutalik, Zoltan ; Zhao, Jing Hua ; den Hoed, Marcel ; Mahajan, Anubha ; Lindi, Virpi ; Goh, Liang-Kee ; Hottenga, Jouke-Jan ; Wu, Ying ; Raitakari, Olli T. ; Harder, Marie N. ; Meirhaeghe, Aline ; Ntalla, Ioanna ; Salem, Rany M. ; Jameson, Karen A. ; Zhou, Kaixin ; Monies, Dorota M. ; Lagou, Vasiliki ; Kirin, Mirna ; Heikkinen, Jani ; Adair, Linda S. ; Alkuraya, Fowzan S. ; Al-Odaib, Ali ; Amouyel, Philippe ; Andersson, Ehm Astrid ; Bennett, Amanda J. ; Blakemore, Alexandra I. F. ; Buxton, Jessica L. ; Dallongeville, Jean ; Das, Shikta ; de Geus, Eco J. C. ; Estivill, Xavier ; Flexeder, Claudia ; Froguel, Philippe ; Geller, Frank ; Godfrey, Keith M. ; Gottrand, Frederic ; Groves, Christopher J. ; Hansen, Torben ; Hirschhorn, Joel N. ; Hofman, Albert ; Hollegaard, Mads V. ; Hougaard, David M. ; Hyppoenen, Elina ; Inskip, Hazel M. ; Isaacs, Aaron ; Jorgensen, Torben ; Kanaka-Gantenbein, Christina ; Kemp, John P. ; Kiess, Wieland ; Kilpelainen, Tuomas O. ; Klopp, Norman ; Knight, Bridget A. ; Kuzawa, Christopher W. ; McMahon, George ; Newnham, John P. ; Niinikoski, Harri ; Oostra, Ben A. ; Pedersen, Louise ; Postma, Dirkje S. ; Ring, Susan M. ; Rivadeneira, Fernando ; Robertson, Neil R. ; Sebert, Sylvain ; Simell, Olli ; Slowinski, Torsten ; Tiesler, Carla M. T. ; Toenjes, Anke ; Vaag, Allan ; Viikari, Jorma S. ; Vink, Jacqueline M. ; Vissing, Nadja Hawwa ; Wareham, Nicholas J. ; Willemsen, Gonneke ; Witte, Daniel R. ; Zhang, Haitao ; Zhao, Jianhua ; Wilson, James F. ; Stumvoll, Michael ; Prentice, Andrew M. ; Meyer, Brian F. ; Pearson, Ewan R. ; Boreham, Colin A. G. ; Cooper, Cyrus ; Gillman, Matthew W. ; Dedoussis, George V. ; Moreno, Luis A. ; Pedersen, Oluf ; Saarinen, Maiju ; Mohlke, Karen L. ; Boomsma, Dorret I. ; Saw, Seang-Mei ; Lakka, Timo A. ; Koerner, Antje ; Loos, Ruth J. F. ; Ong, Ken K. ; Vollenweider, Peter ; van Duijn, Cornelia M. ; Koppelman, Gerard H. ; Hattersley, Andrew T. ; Holloway, John W. ; Hocher, Berthold ; Heinrich, Joachim ; Power, Chris ; Melbye, Mads ; Guxens, Monica ; Pennell, Craig E. ; Bonnelykke, Klaus ; Bisgaard, Hans ; Eriksson, Johan G. ; Widen, Elisabeth ; Hakonarson, Hakon ; Uitterlinden, Andre G. ; Pouta, Anneli ; Lawlor, Debbie A. ; Smith, George Davey ; Frayling, Timothy M. ; McCarthy, Mark I. ; Grant, Struan F. A. ; Jaddoe, Vincent W. V. ; Jarvelin, Marjo-Riitta ; Timpson, Nicholas J. ; Prokopenko, Inga ; Freathy, Rachel M.
Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood(1). Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits(2). In an expanded genome-wide association metaanalysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
Taal, H. Rob ; St Pourcain, Beate ; Thiering, Elisabeth ; Das, Shikta ; Mook-Kanamori, Dennis O. ; Warrington, Nicole M. ; Kaakinen, Marika ; Kreiner-Moller, Eskil ; Bradfield, Jonathan P. ; Freathy, Rachel M. ; Geller, Frank ; Guxens, Monica ; Cousminer, Diana L. ; Kerkhof, Marjan ; Timpson, Nicholas J. ; Ikram, M. Arfan ; Beilin, Lawrence J. ; Bonnelykke, Klaus ; Buxton, Jessica L. ; Charoen, Pimphen ; Chawes, Bo Lund Krogsgaard ; Eriksson, Johan ; Evans, David M. ; Hofman, Albert ; Kemp, John P. ; Kim, Cecilia E. ; Klopp, Norman ; Lahti, Jari ; Lye, Stephen J. ; McMahon, George ; Mentch, Frank D. ; Mueller-Nurasyid, Martina ; O'Reilly, Paul F. ; Prokopenko, Inga ; Rivadeneira, Fernando ; Steegers, Eric A. P. ; Sunyer, Jordi ; Tiesler, Carla ; Yaghootkar, Hanieh ; Breteler, Monique M. B. ; Debette, Stephanie ; Fornage, Myriam ; Gudnason, Vilmundur ; Launer, Lenore J. ; van der Lugt, Aad ; Mosley, Thomas H. ; Seshadri, Sudha ; Smith, Albert V. ; Vernooij, Meike W. ; Blakemore, Alexandra I. F. ; Chiavacci, Rosetta M. ; Feenstra, Bjarke ; Fernandez-Banet, Julio ; Grant, Struan F. A. ; Hartikainen, Anna-Liisa ; van der Heijden, Albert J. ; Iniguez, Carmen ; Lathrop, Mark ; McArdle, Wendy L. ; Molgaard, Anne ; Newnham, John P. ; Palmer, Lyle J. ; Palotie, Aarno ; Pouta, Annneli ; Ring, Susan M. ; Sovio, Ulla ; Standl, Marie ; Uitterlinden, Andre G. ; Wichmann, H-Erich ; Vissing, Nadja Hawwa ; DeCarli, Charles ; van Duijn, Cornelia M. ; McCarthy, Mark I. ; Koppelman, Gerard H. ; Estivill, Xavier ; Hattersley, Andrew T. ; Melbye, Mads ; Bisgaard, Hans ; Pennell, Craig E. ; Widen, Elisabeth ; Hakonarson, Hakon ; Smith, George Davey ; Heinrich, Joachim ; Jarvelin, Marjo-Riitta ; Jaddoe, Vincent W. V. ; Adair, Linda S. ; Ang, Wei ; Atalay, Mustafa ; van Beijsterveldt, Toos ; Bergen, Nienke ; Benke, Kelly ; Berry, Diane J. ; Bradfield, Jonathan P. ; Charoen, Pimphen ; Coin, Lachlan ; Cousminer, Diana L. ; Das, Shikta ; Davis, Oliver S. P. ; Elliott, Paul ; Evans, David M. ; Feenstra, Bjarke ; Flexeder, Claudia ; Frayling, Tim ; Freathy, Rachel M. ; Gaillard, Romy ; Geller, Frank ; Groen-Blokhuis, Maria ; Goh, Liang-Kee ; Guxens, Monica ; Haworth, Claire M. A. ; Hadley, Dexter ; Hebebrand, Johannes ; Hinney, Anke ; Hirschhorn, Joel N. ; Holloway, John W. ; Holst, Claus ; Hottenga, Jouke Jan ; Horikoshi, Momoko ; Huikari, Ville ; Hypponen, Elina ; Iniguez, Carmen ; Kaakinen, Marika ; Kilpelainen, Tuomas O. ; Kirin, Mirna ; Kowgier, Matthew ; Lakka, Hanna-Maaria ; Lange, Leslie A. ; Lawlor, Debbie A. ; Lehtimaki, Terho ; Lewin, Alex ; Lindgren, Cecilia ; Lindi, Virpi ; Maggi, Reedik ; Marsh, Julie ; Middeldorp, Christel ; Millwood, Iona ; Mook-Kanamori, Dennis O. ; Murray, Jeffrey C. ; Nivard, Michel ; Nohr, Ellen Aagaard ; Ntalla, Ioanna ; Oken, Emily ; O'Reilly, Paul F. ; Palmer, Lyle J. ; Panoutsopoulou, Kalliope ; Pararajasingham, Jennifer ; Prokopenko, Inga ; Rodriguez, Alina ; Salem, Rany M. ; Sebert, Sylvain ; Siitonen, Niina ; Sovio, Ulla ; St Pourcain, Beate ; Strachan, David P. ; Sunyer, Jordi ; Taal, H. Rob ; Teo, Yik-Ying ; Thiering, Elisabeth ; Tiesler, Carla ; Uitterlinden, Andre G. ; Valcarcel, Beatriz ; Warrington, Nicole M. ; White, Scott ; Willemsen, Gonneke ; Yaghootkar, Hanieh ; Zeggini, Eleftheria ; Boomsma, Dorret I. ; Cooper, Cyrus ; Estivill, Xavier ; Gillman, Matthew ; Grant, Struan F. A. ; Hakonarson, Hakon ; Hattersley, Andrew T. ; Heinrich, Joachim ; Hocher, Berthold ; Jaddoe, Vincent W. V. ; Jarvelin, Marjo-Riitta ; Lakka, Timo A. ; McCarthy, Mark I. ; Melbye, Mads ; Mohlke, Karen L. ; Dedoussis, George V. ; Ong, Ken K. ; Pearson, Ewan R. ; Pennell, Craig E. ; Price, Thomas S. ; Power, Chris ; Raitakari, Olli T. ; Saw, Seang-Mei ; Scherag, Andre ; Simell, Olli ; Sorensen, Thorkild I. A. ; Timpson, Nicholas J. ; Widen, Elisabeth ; Wilson, James F. ; Ang, Wei ; van Beijsterveldt, Toos ; Bergen, Nienke ; Benke, Kelly ; Berry, Diane J. ; Bradfield, Jonathan P. ; Charoen, Pimphen ; Coin, Lachlan ; Cousminer, Diana L. ; Das, Shikta ; Elliott, Paul ; Evans, David M. ; Frayling, Tim ; Freathy, Rachel M. ; Gaillard, Romy ; Groen-Blokhuis, Maria ; Guxens, Monica ; Hadley, Dexter ; Hottenga, Jouke Jan ; Huikari, Ville ; Hypponen, Elina ; Kaakinen, Marika ; Kowgier, Matthew ; Lawlor, Debbie A. ; Lewin, Alex ; Lindgren, Cecilia ; Marsh, Julie ; Middeldorp, Christel ; Millwood, Iona ; Mook-Kanamori, Dennis O. ; Nivard, Michel ; O'Reilly, Paul F. ; Palmer, Lyle J. ; Prokopenko, Inga ; Rodriguez, Alina ; Sebert, Sylvain ; Sovio, Ulla ; St Pourcain, Beate ; Standl, Marie ; Strachan, David P. ; Sunyer, Jordi ; Taal, H. Rob ; Thiering, Elisabeth ; Tiesler, Carla ; Uitterlinden, Andre G. ; Valcarcel, Beatriz ; Warrington, Nicole M. ; White, Scott ; Willemsen, Gonneke ; Yaghootkar, Hanieh ; Boomsma, Dorret I. ; Estivill, Xavier ; Grant, Struan F. A. ; Hakonarson, Hakon ; Hattersley, Andrew T. ; Heinrich, Joachim ; Jaddoe, Vincent W. V. ; Jarvelin, Marjo-Riitta ; McCarthy, Mark I. ; Pennell, Craig E. ; Power, Chris ; Timpson, Nicholas J. ; Widen, Elisabeth ; Ikram, M. Arfan ; Fornage, Myriam ; Smith, Albert V. ; Seshadri, Sudha ; Schmidt, Reinhold ; Debette, Stephanie ; Vrooman, Henri A. ; Sigurdsson, Sigurdur ; Ropele, Stefan ; Coker, Laura H. ; Longstreth, W. T. ; Niessen, Wiro J. ; DeStefano, Anita L. ; Beiser, Alexa ; Zijdenbos, Alex P. ; Struchalin, Maksim ; Jack, Clifford R. ; Nalls, Mike A. ; Au, Rhoda ; Hofman, Albert ; Gudnason, Haukur ; van der Lugt, Aad ; Harris, Tamara B. ; Meeks, William M. ; Vernooij, Meike W. ; van Buchem, Mark A. ; Catellier, Diane ; Gudnason, Vilmundur ; Windham, B. Gwen ; Wolf, Philip A. ; van Duijn, Cornelia M. ; Mosley, Thomas H. ; Schmidt, Helena ; Launer, Lenore J. ; Breteler, Monique M. B. ; DeCarli, Charles
To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Warrington, Nicole ; Beaumont, Robin ; Horikoshi, Momoko ; Day, Felix R. ; Helgeland, Øyvind ; Laurin, Charles ; Bacelis, Jonas ; Peng, Shouneng ; Hao, Ke ; Feenstra, Bjarke ; Wood, Andrew R. ; Mahajan, Anubha ; Tyrrell, Jessica ; Robertson, Neil R. ; Rayner, N. William ; Qiao, Zhen ; Moen, Gunn-Helen ; Vaudel, Marc ; Marsit, Carmen ; Chen, Jia ; Nodzenski, Michael ; Schnurr, Theresia M. ; Zafarmand, Mohammad Hadi ; Bradfield, Jonathan P. ; Grarup, Niels ; Kooijman, Marjolein N. ; Li-Gao, Ruifang ; Geller, Frank ; Ahluwalia, Tarunveer Singh ; Paternoster, Lavinia ; Rueedi, Rico ; Huikari, Ville ; Hottenga, Jouke-Jan ; Lyytikäinen, Leo-Pekka ; Cavadino, Alana ; Metrustry, Sarah ; Cousminer, Diana L. ; Wu, Ying ; Thiering, Elisabeth Paula ; Wang, Carol A. ; Have, Christian Theil ; Vilor-Tejedor, Natalia ; Joshi, Peter K. ; Painter, Jodie N. ; Ntalla, Ioanna ; Myhre, Ronny ; Pitkänen, Niina ; van Leeuwen, Elisabeth M. ; Joro, Raimo ; Lagou, Vasiliki ; Richmond, Rebecca C. ; Espinosa, Ana ; Barton, Sheila J. ; Inskip, Hazel M. ; Holloway, John W. ; Santa-Marina, Loreto ; Estivill, Xavier ; Ang, Wei ; Marsh, Julie A. ; Reichetzeder, Christoph ; Marullo, Letizia ; Hocher, Berthold ; Lunetta, Kathryn L. ; Murabito, Joanne M. ; Relton, Caroline L. ; Kogevinas, Manolis ; Chatzi, Leda ; Allard, Catherine ; Bouchard, Luigi ; Hivert, Marie-France ; Zhang, Ge ; Muglia, Louis J. ; Heikkinen, Jani ; Morgen, Camilla S. ; van Kampen, Antoine H. C. ; van Schaik, Barbera D. C. ; Mentch, Frank D. ; Langenberg, Claudia ; Scott, Robert A. ; Zhao, Jing Hua ; Hemani, Gibran ; Ring, Susan M. ; Bennett, Amanda J. ; Gaulton, Kyle J. ; Fernandez-Tajes, Juan ; van Zuydam, Natalie R. ; Medina-Gomez, Carolina ; de Haan, Hugoline G. ; Rosendaal, Frits R. ; Kutalik, Zoltán ; Marques-Vidal, Pedro ; Das, Shikta ; Willemsen, Gonneke ; Mbarek, Hamdi ; Müller-Nurasyid, Martina ; Standl, Marie ; Appel, Emil V. R. ; Fonvig, Cilius Esmann ; Trier, Caecilie ; van Beijsterveldt, Catharina E. M. ; Murcia, Mario ; Bustamante, Mariona ; Bonàs-Guarch, Sílvia ; Hougaard, David M. ; Mercader, Josep M. ; Linneberg, Allan ; Schraut, Katharina E. ; Lind, Penelope A. ; Medland, Sarah Elizabeth ; Shields, Beverley M. ; Knight, Bridget A. ; Chai, Jin-Fang ; Panoutsopoulou, Kalliope ; Bartels, Meike ; Sánchez, Friman ; Stokholm, Jakob ; Torrents, David ; Vinding, Rebecca K. ; Willems, Sara M. ; Atalay, Mustafa ; Chawes, Bo L. ; Kovacs, Peter ; Prokopenko, Inga ; Tuke, Marcus A. ; Yaghootkar, Hanieh ; Ruth, Katherine S. ; Jones, Samuel E. ; Loh, Po-Ru ; Murray, Anna ; Weedon, Michael N. ; Tönjes, Anke ; Stumvoll, Michael ; Michaelsen, Kim Fleischer ; Eloranta, Aino-Maija ; Lakka, Timo A. ; van Duijn, Cornelia M. ; Kiess, Wieland ; Koerner, Antje ; Niinikoski, Harri ; Pahkala, Katja ; Raitakari, Olli T. ; Jacobsson, Bo ; Zeggini, Eleftheria ; Dedoussis, George V. ; Teo, Yik-Ying ; Saw, Seang-Mei ; Montgomery, Grant W. ; Campbell, Harry ; Wilson, James F. ; Vrijkotte, Tanja G. M. ; Vrijheid, Martine ; de Geus, Eco J. C. N. ; Hayes, M. Geoffrey ; Kadarmideen, Haja N. ; Holm, Jens-Christian ; Beilin, Lawrence J. ; Pennell, Craig E. ; Heinrich, Joachim ; Adair, Linda S. ; Borja, Judith B. ; Mohlke, Karen L. ; Eriksson, Johan G. ; Widen, Elisabeth E. ; Hattersley, Andrew T. ; Spector, Tim D. ; Kaehoenen, Mika ; Viikari, Jorma S. ; Lehtimaeki, Terho ; Boomsma, Dorret I. ; Sebert, Sylvain ; Vollenweider, Peter ; Sorensen, Thorkild I. A. ; Bisgaard, Hans ; Bonnelykke, Klaus ; Murray, Jeffrey C. ; Melbye, Mads ; Nohr, Ellen A. ; Mook-Kanamori, Dennis O. ; Rivadeneira, Fernando ; Hofman, Albert ; Felix, Janine F. ; Jaddoe, Vincent W. V. ; Hansen, Torben ; Pisinger, Charlotta ; Vaag, Allan A. ; Pedersen, Oluf ; Uitterlinden, Andre G. ; Jarvelin, Marjo-Riitta ; Power, Christine ; Hypponen, Elina ; Scholtens, Denise M. ; Lowe, William L. ; Smith, George Davey ; Timpson, Nicholas J. ; Morris, Andrew P. ; Wareham, Nicholas J. ; Hakonarson, Hakon ; Grant, Struan F. A. ; Frayling, Timothy M. ; Lawlor, Debbie A. ; Njolstad, Pal R. ; Johansson, Stefan ; Ong, Ken K. ; McCarthy, Mark I. ; Perry, John R. B. ; Evans, David M. ; Freathy, Rachel M.
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
Die vorliegende Masterarbeit hat in einer Einstellungsstudie untersucht, welchen Einfluss Einstellungen gegenüber sprachlichen Varietäten und gegenüber der wahrgenommenen ethnischen Herkunft von Sprecher*innen auf die Leistungsbewertung von Schulaufsätzen haben. In Anlehnung an die Debatte um Sprachideologien wurden Einstellungen gegenüber den sprachlichen Varietäten Kiezdeutsch und dominantes Deutsch sowie, aufbauend auf Studien zur Wahrnehmung von sozialer Information über Sprecher*innen, Einstellungen gegenüber türkisch und deutsch markierten Vornamen miteinander verglichen. 157 Lehramtsstudierenden der Universität Potsdam wurde je ein fiktiver Schulaufsatz vorgelegt, der die jeweiligen Einstellungsobjekte sprachliche Varietät und ethnisch markierter Vorname enthielt. Durch einen Vergleich der individuellen Leistungsbewertung der Aufsätze wurde untersucht, welche Unterschiede sich im schulischen Kontext in der Bewertung und damit der Einstellung gegenüber bestimmten Sprecher*innen und ihrem Sprachgebrauch feststellen ließen. Die Studie ergab, dass in den fiktiven Schulaufsätzen Kiezdeutsch stärker sanktioniert wurde als dominantes Deutsch. Dieses Ergebnis konnte verstärkt beobachtet werden, wenn der Schulaufsatz vermeintlich von einer*m Sprecher*in mit türkisch markiertem Vornamen stammte. Die Ergebnisse der Studie lassen vermuten, dass eine Bewertung von Schüler*innen von einer Vorstellung darüber abhängt, wie weit oder nah entfernt der oder die betreffende Schüler*in zur sprachlichen und sozialen Norm steht.
Aarts, Alexander A. ; Anderson, Joanna E. ; Anderson, Christopher J. ; Attridge, Peter R. ; Attwood, Angela ; Axt, Jordan ; Babel, Molly ; Bahnik, Stepan ; Baranski, Erica ; Barnett-Cowan, Michael ; Bartmess, Elizabeth ; Beer, Jennifer ; Bell, Raoul ; Bentley, Heather ; Beyan, Leah ; Binion, Grace ; Borsboom, Denny ; Bosch, Annick ; Bosco, Frank A. ; Bowman, Sara D. ; Brandt, Mark J. ; Braswell, Erin ; Brohmer, Hilmar ; Brown, Benjamin T. ; Brown, Kristina ; Bruening, Jovita ; Calhoun-Sauls, Ann ; Callahan, Shannon P. ; Chagnon, Elizabeth ; Chandler, Jesse ; Chartier, Christopher R. ; Cheung, Felix ; Christopherson, Cody D. ; Cillessen, Linda ; Clay, Russ ; Cleary, Hayley ; Cloud, Mark D. ; Cohn, Michael ; Cohoon, Johanna ; Columbus, Simon ; Cordes, Andreas ; Costantini, Giulio ; Alvarez, Leslie D. Cramblet ; Cremata, Ed ; Crusius, Jan ; DeCoster, Jamie ; DeGaetano, Michelle A. ; Della Penna, Nicolas ; den Bezemer, Bobby ; Deserno, Marie K. ; Devitt, Olivia ; Dewitte, Laura ; Dobolyi, David G. ; Dodson, Geneva T. ; Donnellan, M. Brent ; Donohue, Ryan ; Dore, Rebecca A. ; Dorrough, Angela ; Dreber, Anna ; Dugas, Michelle ; Dunn, Elizabeth W. ; Easey, Kayleigh ; Eboigbe, Sylvia ; Eggleston, Casey ; Embley, Jo ; Epskamp, Sacha ; Errington, Timothy M. ; Estel, Vivien ; Farach, Frank J. ; Feather, Jenelle ; Fedor, Anna ; Fernandez-Castilla, Belen ; Fiedler, Susann ; Field, James G. ; Fitneva, Stanka A. ; Flagan, Taru ; Forest, Amanda L. ; Forsell, Eskil ; Foster, Joshua D. ; Frank, Michael C. ; Frazier, Rebecca S. ; Fuchs, Heather ; Gable, Philip ; Galak, Jeff ; Galliani, Elisa Maria ; Gampa, Anup ; Garcia, Sara ; Gazarian, Douglas ; Gilbert, Elizabeth ; Giner-Sorolla, Roger ; Glöckner, Andreas ; Göllner, Lars ; Goh, Jin X. ; Goldberg, Rebecca ; Goodbourn, Patrick T. ; Gordon-McKeon, Shauna ; Gorges, Bryan ; Gorges, Jessie ; Goss, Justin ; Graham, Jesse ; Grange, James A. ; Gray, Jeremy ; Hartgerink, Chris ; Hartshorne, Joshua ; Hasselman, Fred ; Hayes, Timothy ; Heikensten, Emma ; Henninger, Felix ; Hodsoll, John ; Holubar, Taylor ; Hoogendoorn, Gea ; Humphries, Denise J. ; Hung, Cathy O. -Y. ; Immelman, Nathali ; Irsik, Vanessa C. ; Jahn, Georg ; Jaekel, Frank ; Jekel, Marc ; Johannesson, Magnus ; Johnson, Larissa G. ; Johnson, David J. ; Johnson, Kate M. ; Johnston, William J. ; Jonas, Kai ; Joy-Gaba, Jennifer A. ; Kappes, Heather Barry ; Kelso, Kim ; Kidwell, Mallory C. ; Kim, Seung Kyung ; Kirkhart, Matthew ; Kleinberg, Bennett ; Knezevic, Goran ; Kolorz, Franziska Maria ; Kossakowski, Jolanda J. ; Krause, Robert Wilhelm ; Krijnen, Job ; Kuhlmann, Tim ; Kunkels, Yoram K. ; Kyc, Megan M. ; Lai, Calvin K. ; Laique, Aamir ; Lakens, Daniel ; Lane, Kristin A. ; Lassetter, Bethany ; Lazarevic, Ljiljana B. ; LeBel, Etienne P. ; Lee, Key Jung ; Lee, Minha ; Lemm, Kristi ; Levitan, Carmel A. ; Lewis, Melissa ; Lin, Lin ; Lin, Stephanie ; Lippold, Matthias ; Loureiro, Darren ; Luteijn, Ilse ; Mackinnon, Sean ; Mainard, Heather N. ; Marigold, Denise C. ; Martin, Daniel P. ; Martinez, Tylar ; Masicampo, E. J. ; Matacotta, Josh ; Mathur, Maya ; May, Michael ; Mechin, Nicole ; Mehta, Pranjal ; Meixner, Johannes ; Melinger, Alissa ; Miller, Jeremy K. ; Miller, Mallorie ; Moore, Katherine ; Möschl, Marcus ; Motyl, Matt ; Müller, Stephanie M. ; Munafo, Marcus ; Neijenhuijs, Koen I. ; Nervi, Taylor ; Nicolas, Gandalf ; Nilsonne, Gustav ; Nosek, Brian A. ; Nuijten, Michele B. ; Olsson, Catherine ; Osborne, Colleen ; Ostkamp, Lutz ; Pavel, Misha ; Penton-Voak, Ian S. ; Perna, Olivia ; Pernet, Cyril ; Perugini, Marco ; Pipitone, R. Nathan ; Pitts, Michael ; Plessow, Franziska ; Prenoveau, Jason M. ; Rahal, Rima-Maria ; Ratliff, Kate A. ; Reinhard, David ; Renkewitz, Frank ; Ricker, Ashley A. ; Rigney, Anastasia ; Rivers, Andrew M. ; Roebke, Mark ; Rutchick, Abraham M. ; Ryan, Robert S. ; Sahin, Onur ; Saide, Anondah ; Sandstrom, Gillian M. ; Santos, David ; Saxe, Rebecca ; Schlegelmilch, Rene ; Schmidt, Kathleen ; Scholz, Sabine ; Seibel, Larissa ; Selterman, Dylan Faulkner ; Shaki, Samuel ; Simpson, William B. ; Sinclair, H. Colleen ; Skorinko, Jeanine L. M. ; Slowik, Agnieszka ; Snyder, Joel S. ; Soderberg, Courtney ; Sonnleitner, Carina ; Spencer, Nick ; Spies, Jeffrey R. ; Steegen, Sara ; Stieger, Stefan ; Strohminger, Nina ; Sullivan, Gavin B. ; Talhelm, Thomas ; Tapia, Megan ; te Dorsthorst, Anniek ; Thomae, Manuela ; Thomas, Sarah L. ; Tio, Pia ; Traets, Frits ; Tsang, Steve ; Tuerlinckx, Francis ; Turchan, Paul ; Valasek, Milan ; Van Aert, Robbie ; van Assen, Marcel ; van Bork, Riet ; van de Ven, Mathijs ; van den Bergh, Don ; van der Hulst, Marije ; van Dooren, Roel ; van Doorn, Johnny ; van Renswoude, Daan R. ; van Rijn, Hedderik ; Vanpaemel, Wolf ; Echeverria, Alejandro Vasquez ; Vazquez, Melissa ; Velez, Natalia ; Vermue, Marieke ; Verschoor, Mark ; Vianello, Michelangelo ; Voracek, Martin ; Vuu, Gina ; Wagenmakers, Eric-Jan ; Weerdmeester, Joanneke ; Welsh, Ashlee ; Westgate, Erin C. ; Wissink, Joeri ; Wood, Michael ; Woods, Andy ; Wright, Emily ; Wu, Sining ; Zeelenberg, Marcel ; Zuni, Kellylynn
Reproducibility is a defining feature of science, but the extent to which it characterizes current research is unknown. We conducted replications of 100 experimental and correlational studies published in three psychology journals using high-powered designs and original materials when available. Replication effects were half the magnitude of original effects, representing a substantial decline. Ninety-seven percent of original studies had statistically significant results. Thirty-six percent of replications had statistically significant results; 47% of original effect sizes were in the 95% confidence interval of the replication effect size; 39% of effects were subjectively rated to have replicated the original result; and if no bias in original results is assumed, combining original and replication results left 68% with statistically significant effects. Correlational tests suggest that replication success was better predicted by the strength of original evidence than by characteristics of the original and replication teams.
Cuzzi, Jeff N. ; Burns, Joseph A. ; Charnoz, Sébastien ; Clark, Roger N. ; Colwell, Josh E. ; Dones, Luke ; Esposito, Larry W. ; Filacchione, Gianrico ; French, Richard G. ; Hedman, Matthew M. ; Kempf, Sascha ; Marouf, Essam A. ; Murray, Carl D. ; Nicholson, Phillip D. ; Porco, Carolyn C. ; Schmidt, Jürgen ; Showalter, Mark R. ; Spilker, Linda J. ; Spitale, Joseph N. ; Srama, Ralf ; Sremcević, Miodrag ; Tiscareno, Matthew Steven ; Weiss, John
We review our understanding of Saturn's rings after nearly 6 years of observations by the Cassini spacecraft. Saturn's rings are composed mostly of water ice but also contain an undetermined reddish contaminant. The rings exhibit a range of structure across many spatial scales; some of this involves the interplay of the fluid nature and the self-gravity of innumerable orbiting centimeter- to meter-sized particles, and the effects of several peripheral and embedded moonlets, but much remains unexplained. A few aspects of ring structure change on time scales as short as days. It remains unclear whether the vigorous evolutionary processes to which the rings are subject imply a much younger age than that of the solar system. Processes on view at Saturn have parallels in circumstellar disks.
Ikram, M. Arfan ; Fornage, Myriam ; Smith, Albert V. ; Seshadri, Sudha ; Schmidt, Reinhold ; Debette, Stephanie ; Vrooman, Henri A. ; Sigurdsson, Sigurdur ; Ropele, Stefan ; Taal, H. Rob ; Mook-Kanamori, Dennis O. ; Coker, Laura H. ; Longstreth, W. T. ; Niessen, Wiro J. ; DeStefano, Anita L. ; Beiser, Alexa ; Zijdenbos, Alex P. ; Struchalin, Maksim ; Jack, Clifford R. ; Rivadeneira, Fernando ; Uitterlinden, Andre G. ; Knopman, David S. ; Hartikainen, Anna-Liisa ; Pennell, Craig E. ; Thiering, Elisabeth ; Steegers, Eric A. P. ; Hakonarson, Hakon ; Heinrich, Joachim ; Palmer, Lyle J. ; Jarvelin, Marjo-Riitta ; McCarthy, Mark I. ; Grant, Struan F. A. ; St Pourcain, Beate ; Timpson, Nicholas J. ; Smith, George Davey ; Sovio, Ulla ; Nalls, Mike A. ; Au, Rhoda ; Hofman, Albert ; Gudnason, Haukur ; van der Lugt, Aad ; Harris, Tamara B. ; Meeks, William M. ; Vernooij, Meike W. ; van Buchem, Mark A. ; Catellier, Diane ; Jaddoe, Vincent W. V. ; Gudnason, Vilmundur ; Windham, B. Gwen ; Wolf, Philip A. ; van Duijn, Cornelia M. ; Mosley, Thomas H. ; Schmidt, Helena ; Launer, Lenore J. ; Breteler, Monique M. B. ; DeCarli, Charles ; Adair, Linda S. ; Ang, Wei ; Atalay, Mustafa ; vanBeijsterveldt, Toos ; Bergen, Nienke ; Benke, Kelly ; Berry, Diane J. ; Coin, Lachlan ; Davis, Oliver S. P. ; Elliott, Paul ; Flexeder, Claudia ; Frayling, Tim ; Gaillard, Romy ; Groen-Blokhuis, Maria ; Goh, Liang-Kee ; Haworth, Claire M. A. ; Hadley, Dexter ; Hebebrand, Johannes ; Hinney, Anke ; Hirschhorn, Joel N. ; Holloway, John W. ; Holst, Claus ; Hottenga, Jouke Jan ; Horikoshi, Momoko ; Huikari, Ville ; Hypponen, Elina ; Kilpelainen, Tuomas O. ; Kirin, Mirna ; Kowgier, Matthew ; Lakka, Hanna-Maaria ; Lange, Leslie A. ; Lawlor, Debbie A. ; Lehtimaki, Terho ; Lewin, Alex ; Lindgren, Cecilia ; Lindi, Virpi ; Maggi, Reedik ; Marsh, Julie ; Middeldorp, Christel ; Millwood, Iona ; Murray, Jeffrey C. ; Nivard, Michel ; Nohr, Ellen Aagaard ; Ntalla, Ioanna ; Oken, Emily ; Panoutsopoulou, Kalliope ; Pararajasingham, Jennifer ; Rodriguez, Alina ; Salem, Rany M. ; Sebert, Sylvain ; Siitonen, Niina ; Strachan, David P. ; Teo, Yik-Ying ; Valcarcel, Beatriz ; Willemsen, Gonneke ; Zeggini, Eleftheria ; Boomsma, Dorret I. ; Cooper, Cyrus ; Gillman, Matthew ; Hocher, Berthold ; Lakka, Timo A. ; Mohlke, Karen L. ; Dedoussis, George V. ; Ong, Ken K. ; Pearson, Ewan R. ; Price, Thomas S. ; Power, Chris ; Raitakari, Olli T. ; Saw, Seang-Mei ; Scherag, Andre ; Simell, Olli ; Sorensen, Thorkild I. A. ; Wilson, James F.
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
Geist, Emily ; Gallagher, John S. ; Kotulla, Ralf ; Oskinova, Lidia M. ; Hamann, Wolf-Rainer ; Ramachandran, Varsha ; Sabbi, Elena ; Smith, Linda J. ; Kniazev, Alexey ; Nota, Antonella ; Rickard, Matthew J.
The NGC 346 young stellar system and associated N66 giant H ii region in the Small Magellanic Cloud are the nearest example of a massive star-forming event in a low metallicity (Z approximate to 0.2Z (circle dot)) galaxy. With an age of less than or similar to 3 Myr this system provides a unique opportunity to study relationships between massive stars and their associated H ii region. Using archival data, we derive a total H alpha luminosity of L(H alpha) = 4.1 x 10(38) erg s(-1) corresponding to an H-photoionization rate of 3 x 10(50) s(-1). A comparison with a predicted stellar ionization rate derived from the more than 50 known O-stars in NGC 346, including massive stars recently classified from Hubble Space Telescope far-ultraviolet (FUV) spectra, indicates an approximate ionization balance. Spectra obtained with SALT suggest the ionization structure of N66 could be consistent with some leakage of ionizing photons. Due to the low metallicity, the FUV luminosity from NGC 346 is not confined to the interstellar cloud associated with N66. Ionization extends through much of the spatial extent of the N66 cloud complex, and most of the cloud mass is not ionized. The stellar mass estimated from nebular L(H alpha) appears to be lower than masses derived from the census of resolved stars which may indicate a disconnect between the formation of high and low mass stars in this region. We briefly discuss implications of the properties of N66 for studies of star formation and stellar feedback in low metallicity environments.
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