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5,342 results on '"Perry, John"'

55. '...To Read People Differently'.: The Purpose of English Literature in English Secondary Schools

Author

Perry, John

Abstract

This article takes Margaret Meek Spencer's 1988 pamphlet "How Texts Teach What Readers Learn" to frame a discussion about the purpose of English Literature in English secondary schools. The primary data informing this article is taken from original interviews with ten Heads of English departments in English secondary schools. Henri Lefebvre's framework of conceived, perceived and lived spaces is used to analyse the data to understand how the Heads of Department conceptualise the place and purpose of English Literature in their schools. The views of the Heads of English are then discussed in light of Meek Spencer's work, highlighting how the current curriculum for English Literature produces a subject which is at odds with her ideas and contemporary views of the English curriculum and its purpose. The article concludes with some suggestions about how the teaching of English Literature in schools can be developed so that it is more in line with Meek Spencer's ideas, is more socially just and more ambitious.

Published
2022
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56. Domain-Specific Consideration of Future Consequences: Further Evidence Using Academic Attainment Data

Author

McKay, Michael T., Perry, John L., Worrell, Frank C., and Cole, Jon C.

Abstract

A number of recent studies have demonstrated that adolescents consider the future consequences (CFC) of behaviours domain-specifically. In other words, rather than being a "future orientated person," it appears that the orientation varies within individuals, depending on the domain in question. The present study matched data gathered in Scottish school children (N = 451) on consideration of four future domains (Health and Well-being, Finances, Academics, and Global Warming) with sociodemographic and academic attainment data provided by Local Government. Results showed that deprivation was significantly related to academic attainment, and that this relationship was partially mediated by the combined effects of academic self-efficacy and on consideration of future consequences--academic. Further, domain specificity was supported by the fact that scores for consideration of future consequences--health and well-being,--finance, and--global warming did not partially mediate the deprivation-attainment relationship. The study identifies two variables which may contribute to closing the poverty-related attainment gap.

Published
2022
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58. On knowing who I am

Author

Perry John

Subjects
castañeda, amnesia, efficiency, kaplan, context, character, basic actions, self-informative, self-effecting, other-informative, primitive self-knowledge, self-notion, self-attached, essential indexicals, Philosophy (General), B1-5802
Published
2023
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61. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

Author

Canton, Ana P M, Tinano, Flávia R, Guasti, Leonardo, Montenegro, Luciana R, Ryan, Fiona, Shears, Deborah, de Melo, Maria Edna, Gomes, Larissa G, Piana, Mariana P, Brauner, Raja, Espino-Aguilar, Rafael, Escribano-Muñoz, Arancha, Paganoni, Alyssa, Read, Jordan E, Korbonits, Márta, Seraphim, Carlos E, Costa, Silvia S, Krepischi, Ana Cristina, Jorge, Alexander A L, David, Alessia, Kaisinger, Lena R, Ong, Ken K, Perry, John R B, Abreu, Ana Paula, Kaiser, Ursula B, Argente, Jesús, Mendonca, Berenice B, Brito, Vinicius N, Howard, Sasha R, and Latronico, Ana Claudia

Published
2023
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64. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Author

Wilcox, Naomi, Dumont, Martine, González-Neira, Anna, Carvalho, Sara, Joly Beauparlant, Charles, Crotti, Marco, Luccarini, Craig, Soucy, Penny, Dubois, Stéphane, Nuñez-Torres, Rocio, Pita, Guillermo, Gardner, Eugene J., Dennis, Joe, Alonso, M. Rosario, Álvarez, Nuria, Baynes, Caroline, Collin-Deschesnes, Annie Claude, Desjardins, Sylvie, Becher, Heiko, Behrens, Sabine, Bolla, Manjeet K., Castelao, Jose E., Chang-Claude, Jenny, Cornelissen, Sten, Dörk, Thilo, Engel, Christoph, Gago-Dominguez, Manuela, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hartman, Mikael, Herráez, Belén, Jung, Audrey, Keeman, Renske, Kiechle, Marion, Li, Jingmei, Loizidou, Maria A., Lush, Michael, Michailidou, Kyriaki, Panayiotidis, Mihalis I., Sim, Xueling, Teo, Soo Hwang, Tyrer, Jonathan P., van der Kolk, Lizet E., Wahlström, Cecilia, Wang, Qin, Perry, John R. B., Benitez, Javier, Schmidt, Marjanka K., Schmutzler, Rita K., Pharoah, Paul D. P., Droit, Arnaud, Dunning, Alison M., Kvist, Anders, Devilee, Peter, Easton, Douglas F., and Simard, Jacques

Published
2023
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67. Maternal obesity increases hypothalamic miR-505-5p expression in mouse offspring leading to altered fatty acid sensing and increased intake of high-fat food

Author

Dearden, Laura, primary, Furigo, Isadora C., additional, Pantaleão, Lucas C., additional, Wong, L W. P., additional, Fernandez-Twinn, Denise S., additional, de Almeida-Faria, Juliana, additional, Kentistou, Katherine A., additional, Carreira, Maria V., additional, Bidault, Guillaume, additional, Vidal-Puig, Antonio, additional, Ong, Ken K., additional, Perry, John R. B., additional, Donato, Jose, additional, and Ozanne, Susan E., additional

Published
2024
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68. Population scale whole genome sequencing provides novel insights into cardiometabolic health

Author

Zhao, Yajie, primary, Lockhart, Sam, additional, Liu, Jimmy, additional, Li, Xihao, additional, Cortes, Adrian, additional, Hua, Xing, additional, Gardner, Eugene J., additional, Kentistou, Katherine A., additional, Lo, Yancy, additional, Davitte, Jonathan, additional, Savage, David B., additional, Buser-Doepner, Carolyn, additional, Ong, Ken K., additional, Zhang, Haoyu, additional, Scott, Robert, additional, O'Rahilly, Stephen, additional, and Perry, John R.B., additional

Published
2024
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70. Qualitative analysis of the factors associated with whistleblowing intentions among athletes from six European countries

Author

Toner, John, primary, Jones, Luke, additional, Fairs, Lucas, additional, Mantis, Constantine, additional, Barkoukis, Vassilis, additional, Daroglou, Garyfallia, additional, Perry, John L., additional, Micle, Andrei V., additional, Theodorou, Nikolaos C., additional, Shakhverdieva, Sabina, additional, Stoicescu, Marius, additional, Pompiliu-Nicolae, Constantin, additional, Vesic, Milica V., additional, Dikic, Nenad, additional, Andjelkovic, Marija, additional, Revilla, Jesús Muñoz-Guerra, additional, García-Grimau, Elena, additional, Martínez, Miguel A. E., additional, Amigo, Javier A., additional, Schomöller, Anne, additional, and Nicholls, Adam Robert, additional

Published
2024
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73. How Are Heads of English Responding to Policy Changes in the English School System?

Author

Perry, John

Abstract

Changes to education policy in England since 2010 have led teachers to reflect on what and how they teach. This paper presents original data exploring how a small selection (n = 10) of Heads of English in some English secondary schools are accommodating policy changes. Ball's analytic framework developed to explore neoliberal policy enactment in education is used to reveal how Heads of English might be at odds with recent policy changes, particularly regarding the range of text choices in available for examination studies, but are using their limited agency to accommodate their values in practice. This research shows how these Heads of Department are generally positive and confident in their approach to teaching English.

Published
2021
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74. Time to Change Your Attitude? Socio-Economic Status, Academic Attainment, and Time Attitudes in Glasgow School Children

Author

Worrell, Frank C., Perry, John L., Wells, Kevin E., and McKay, Michael T.

Abstract

Closing the poverty-related attainment gap in schoolchildren is a stated priority for the Scottish Government. In the present study, we examine the poverty-related attainment gap in Glasgow, a city wherein more than half of the 100 most deprived areas in Scotland are to be found. Further, we examine the potential mediating role of school attendance, academic self-efficacy, and future time attitudes (positive and negative) in the relationship between socio-economic status and academic attainment. Participants (N = 3,812) were from 30 High schools in the Glasgow Local Authority area. In the first instance, we examined the mediating role of both academic self-efficacy and school attendance. Then, in a subsample, we further examined the additional potential of both positive and negative time attitudes to mediate this relationship. Results of Study 1 support the combined partially mediating effect of both academic self-efficacy and higher school attendance on the poverty-attainment relationship. Results of Study 2 show that these variables fully mediate the poverty-attainment relationship, and further evidence a direct effect of both positive and negative time attitudes on attainment. The direct effects of time attitudes on attainment suggest that this construct may be viable in addressing the poverty-related attainment gap across the social spectrum.

Published
2021
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75. Author Correction: GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability

Author

Pasman, Joëlle A, Verweij, Karin JH, Gerring, Zachary, Stringer, Sven, Sanchez-Roige, Sandra, Treur, Jorien L, Abdellaoui, Abdel, Nivard, Michel G, Baselmans, Bart ML, Ong, Jue-Sheng, Ip, Hill F, van der Zee, Matthijs D, Bartels, Meike, Day, Felix R, Fontanillas, Pierre, Elson, Sarah L, de Wit, Harriet, Davis, Lea K, MacKillop, James, Derringer, Jaime L, Branje, Susan JT, Hartman, Catharina A, Heath, Andrew C, van Lier, Pol AC, Madden, Pamela AF, Mägi, Reedik, Meeus, Wim, Montgomery, Grant W, Oldehinkel, AJ, Pausova, Zdenka, Ramos-Quiroga, Josep A, Paus, Tomas, Ribases, Marta, Kaprio, Jaakko, Boks, Marco PM, Bell, Jordana T, Spector, Tim D, Gelernter, Joel, Boomsma, Dorret I, Martin, Nicholas G, MacGregor, Stuart, Perry, John RB, Palmer, Abraham A, Posthuma, Danielle, Munafò, Marcus R, Gillespie, Nathan A, Derks, Eske M, and Vink, Jacqueline M

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Drug Abuse (NIDA only), Human Genome, Brain Disorders, Serious Mental Illness, Genetics, Schizophrenia, Substance Misuse, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Mental health, 23andMe Research Team, Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Several occurrences of the word 'schizophrenia' have been re-worded as 'liability to schizophrenia' or 'schizophrenia risk', including in the title, which should have been "GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability," as well as in Supplementary Figures 1-10 and Supplementary Tables 7-10, to more accurately reflect the findings of the work.

Published
2019

77. Discovery, isolation, heterologous expression and mode-of-action studies of the antibiotic polyketide tatiomicin from Amycolatopsis sp. DEM30355

Author

Kepplinger, Bernhard, Mardiana, Lina, Cowell, Joseph, Morton-Laing, Stephanie, Dashti, Yousef, Wills, Corinne, Marrs, Emma C. L., Perry, John D., Gray, Joe, Goodfellow, Michael, Errington, Jeff, Probert, Michael R., Clegg, William, Bogaerts, Jonathan, Herrebout, Wouter, Allenby, Nick E. E., and Hall, Michael J.

Published
2022
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78. Are there essential indexicals?

Author

Perry John

Subjects
indexicals, castañeda, kaplan, character, context, content, self-informative, self-effecting, efficient, eternal, Philosophy (General), B1-5802
Published
2022
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80. Politics page.

Author

Perry, John

Subjects
*YOUNG adults, *UNITED States presidential election, 2024, *EDUCATIONAL leadership, *EDUCATIONAL finance, *CHILD caregivers, CONVENTION on the Rights of Persons with Disabilities
Abstract

This article provides an overview of the challenges and priorities facing the new Labour Party government in England after the 2024 UK general election. It highlights reports from the Institute for Fiscal Studies that reveal stagnant school spending and increased costs for staffing, food, and energy. The article also addresses issues in school provision, such as inequality, rising numbers of Education, Health and Care Plans, pupil absenteeism, and mental health concerns. Additionally, the article discusses developments in education and support for children with additional learning needs in Scotland, Wales, and Northern Ireland, including efforts to improve experiences, implement reforms, and provide more specialist school placements. [Extracted from the article]

Published
2024
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82. GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability

Author

Pasman, Joëlle A, Verweij, Karin JH, Gerring, Zachary, Stringer, Sven, Sanchez-Roige, Sandra, Treur, Jorien L, Abdellaoui, Abdel, Nivard, Michel G, Baselmans, Bart ML, Ong, Jue-Sheng, Ip, Hill F, van der Zee, Matthijs D, Bartels, Meike, Day, Felix R, Fontanillas, Pierre, Elson, Sarah L, the 23andMe Research Team, de Wit, Harriet, Davis, Lea K, MacKillop, James, The Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Derringer, Jaime L, Branje, Susan JT, Hartman, Catharina A, Heath, Andrew C, van Lier, Pol AC, Madden, Pamela AF, Mägi, Reedik, Meeus, Wim, Montgomery, Grant W, Oldehinkel, AJ, Pausova, Zdenka, Ramos-Quiroga, Josep A, Paus, Tomas, Ribases, Marta, Kaprio, Jaakko, Boks, Marco PM, Bell, Jordana T, Spector, Tim D, Gelernter, Joel, Boomsma, Dorret I, Martin, Nicholas G, MacGregor, Stuart, Perry, John RB, Palmer, Abraham A, Posthuma, Danielle, Munafò, Marcus R, Gillespie, Nathan A, Derks, Eske M, and Vink, Jacqueline M

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Prevention, Mental Health, Schizophrenia, Clinical Research, Behavioral and Social Science, Genetics, Mental Illness, Brain Disorders, Serious Mental Illness, Human Genome, Drug Abuse (NIDA only), Women's Health, Cannabinoid Research, Substance Misuse, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Adolescent, Adult, Aged, Aged, 80 and over, Cell Adhesion Molecules, Databases, Genetic, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Marijuana Abuse, Mendelian Randomization Analysis, Middle Aged, Polymorphism, Single Nucleotide, Risk-Taking, Young Adult, 23andMe Research Team, Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Cannabis use is a heritable trait that has been associated with adverse mental health outcomes. In the largest genome-wide association study (GWAS) for lifetime cannabis use to date (N = 184,765), we identified eight genome-wide significant independent single nucleotide polymorphisms in six regions. All measured genetic variants combined explained 11% of the variance. Gene-based tests revealed 35 significant genes in 16 regions, and S-PrediXcan analyses showed that 21 genes had different expression levels for cannabis users versus nonusers. The strongest finding across the different analyses was CADM2, which has been associated with substance use and risk-taking. Significant genetic correlations were found with 14 of 25 tested substance use and mental health-related traits, including smoking, alcohol use, schizophrenia and risk-taking. Mendelian randomization analysis showed evidence for a causal positive influence of schizophrenia risk on cannabis use. Overall, our study provides new insights into the etiology of cannabis use and its relation with mental health.

Published
2018

83. GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia.

Author

Pasman, Joëlle A, Verweij, Karin JH, Gerring, Zachary, Stringer, Sven, Sanchez-Roige, Sandra, Treur, Jorien L, Abdellaoui, Abdel, Nivard, Michel G, Baselmans, Bart ML, Ong, Jue-Sheng, Ip, Hill F, van der Zee, Matthijs D, Bartels, Meike, Day, Felix R, Fontanillas, Pierre, Elson, Sarah L, 23andMe Research Team, de Wit, Harriet, Davis, Lea K, MacKillop, James, Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Derringer, Jaime L, Branje, Susan JT, Hartman, Catharina A, Heath, Andrew C, van Lier, Pol AC, Madden, Pamela AF, Mägi, Reedik, Meeus, Wim, Montgomery, Grant W, Oldehinkel, AJ, Pausova, Zdenka, Ramos-Quiroga, Josep A, Paus, Tomas, Ribases, Marta, Kaprio, Jaakko, Boks, Marco PM, Bell, Jordana T, Spector, Tim D, Gelernter, Joel, Boomsma, Dorret I, Martin, Nicholas G, MacGregor, Stuart, Perry, John RB, Palmer, Abraham A, Posthuma, Danielle, Munafò, Marcus R, Gillespie, Nathan A, Derks, Eske M, and Vink, Jacqueline M

Subjects
23andMe Research Team, Substance Use Disorders Working Group of the Psychiatric Genomics Consortium, International Cannabis Consortium, Humans, Marijuana Abuse, Genetic Predisposition to Disease, Cell Adhesion Molecules, Risk-Taking, Mental Health, Schizophrenia, Gene Expression Regulation, Genotype, Polymorphism, Single Nucleotide, Databases, Genetic, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, Databases, Genetic, and over, Prevention, Human Genome, Brain Disorders, Drug Abuse, Substance Abuse, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Cardiovascular, Neurology & Neurosurgery, Neurosciences, Cognitive Sciences, Psychology
Abstract

Cannabis use is a heritable trait that has been associated with adverse mental health outcomes. In the largest genome-wide association study (GWAS) for lifetime cannabis use to date (N = 184,765), we identified eight genome-wide significant independent single nucleotide polymorphisms in six regions. All measured genetic variants combined explained 11% of the variance. Gene-based tests revealed 35 significant genes in 16 regions, and S-PrediXcan analyses showed that 21 genes had different expression levels for cannabis users versus nonusers. The strongest finding across the different analyses was CADM2, which has been associated with substance use and risk-taking. Significant genetic correlations were found with 14 of 25 tested substance use and mental health-related traits, including smoking, alcohol use, schizophrenia and risk-taking. Mendelian randomization analysis showed evidence for a causal positive influence of schizophrenia risk on cannabis use. Overall, our study provides new insights into the etiology of cannabis use and its relation with mental health.

Published
2018

84. GWAS of epigenetic aging rates in blood reveals a critical role for TERT.

Author

Lu, Ake T, Xue, Luting, Salfati, Elias L, Chen, Brian H, Ferrucci, Luigi, Levy, Daniel, Joehanes, Roby, Murabito, Joanne M, Kiel, Douglas P, Tsai, Pei-Chien, Yet, Idil, Bell, Jordana T, Mangino, Massimo, Tanaka, Toshiko, McRae, Allan F, Marioni, Riccardo E, Visscher, Peter M, Wray, Naomi R, Deary, Ian J, Levine, Morgan E, Quach, Austin, Assimes, Themistocles, Tsao, Philip S, Absher, Devin, Stewart, James D, Li, Yun, Reiner, Alex P, Hou, Lifang, Baccarelli, Andrea A, Whitsel, Eric A, Aviv, Abraham, Cardona, Alexia, Day, Felix R, Wareham, Nicholas J, Perry, John RB, Ong, Ken K, Raj, Kenneth, Lunetta, Kathryn L, and Horvath, Steve

Subjects
Leukocytes, Cells, Cultured, Telomere, Fibroblasts, Humans, Telomerase, DNA Methylation, Epigenesis, Genetic, CpG Islands, Aging, Menopause, Menarche, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Genome-Wide Association Study, Young Adult, Mendelian Randomization Analysis, Cells, Cultured, Epigenesis, Genetic, and over
Abstract

DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration (EEAA). Mendelian randomization analysis suggests causal influences of menarche and menopause on IEAA and lipoproteins on IEAA and EEAA. Variants associated with longer leukocyte telomere length (LTL) in the telomerase reverse transcriptase gene (TERT) paradoxically confer higher IEAA (P

Published
2018

85. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Author

Flannick, Jason, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M, Agarwala, Vineeta, Gaulton, Kyle J, Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J, Rivas, Manuel A, Perry, John RB, Sim, Xueling, Blackwell, Thomas W, Robertson, Neil R, Rayner, N William, Cingolani, Pablo, Locke, Adam E, Tajes, Juan Fernandez, Highland, Heather M, Dupuis, Josee, Chines, Peter S, Lindgren, Cecilia M, Hartl, Christopher, Jackson, Anne U, Chen, Han, Huyghe, Jeroen R, van de Bunt, Martijn, Pearson, Richard D, Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M, Gamazon, Eric R, Lee, Jaehoon, Chen, Yuhui, Scott, Robert A, Below, Jennifer E, Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L, Pasko, Dorota, Parker, Stephen CJ, Varga, Tibor V, Green, Todd, Beer, Nicola L, Day-Williams, Aaron G, Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J, Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P, Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F, Han, Bok-Ghee, Jenkinson, Christopher P, Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E, Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D, Neale, Benjamin M, Purcell, Shaun, Butterworth, Adam S, Howson, Joanna MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, and Lam, Vincent KL

Abstract

This corrects the article DOI: 10.1038/sdata.2017.179.

Published
2018

86. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Author

Flannick, Jason, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M, Agarwala, Vineeta, Gaulton, Kyle J, Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J, Rivas, Manuel A, Perry, John RB, Sim, Xueling, Blackwell, Thomas W, Robertson, Neil R, Rayner, N William, Cingolani, Pablo, Locke, Adam E, Tajes, Juan Fernandez, Highland, Heather M, Dupuis, Josee, Chines, Peter S, Lindgren, Cecilia M, Hartl, Christopher, Jackson, Anne U, Chen, Han, Huyghe, Jeroen R, van de Bunt, Martijn, Pearson, Richard D, Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M, Gamazon, Eric R, Lee, Jaehoon, Chen, Yuhui, Scott, Robert A, Below, Jennifer E, Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L, Pasko, Dorota, Parker, Stephen CJ, Varga, Tibor V, Green, Todd, Beer, Nicola L, Day-Williams, Aaron G, Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J, Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P, Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F, Han, Bok-Ghee, Jenkinson, Christopher P, Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E, Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D, Neale, Benjamin M, Purcell, Shaun, Butterworth, Adam S, Howson, Joanna MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, and Lam, Vincent KL

Subjects
Humans, Diabetes Mellitus, Type 2, European Continental Ancestry Group, Genetic Variation, Diabetes, Human Genome, Genetics, 2.1 Biological and endogenous factors, Metabolic and endocrine
Abstract

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

Published
2017

87. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

Author

Scott, Robert A, Scott, Laura J, Mägi, Reedik, Marullo, Letizia, Gaulton, Kyle J, Kaakinen, Marika, Pervjakova, Natalia, Pers, Tune H, Johnson, Andrew D, Eicher, John D, Jackson, Anne U, Ferreira, Teresa, Lee, Yeji, Ma, Clement, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Qi, Lu, Van Zuydam, Natalie R, Mahajan, Anubha, Chen, Han, Almgren, Peter, Voight, Ben F, Grallert, Harald, Müller-Nurasyid, Martina, Ried, Janina S, Rayner, William N, Robertson, Neil, Karssen, Lennart C, van Leeuwen, Elisabeth M, Willems, Sara M, Fuchsberger, Christian, Kwan, Phoenix, Teslovich, Tanya M, Chanda, Pritam, Li, Man, Lu, Yingchang, Dina, Christian, Thuillier, Dorothee, Yengo, Loic, Jiang, Longda, Sparso, Thomas, Kestler, Hans A, Chheda, Himanshu, Eisele, Lewin, Gustafsson, Stefan, Frånberg, Mattias, Strawbridge, Rona J, Benediktsson, Rafn, Hreidarsson, Astradur B, Kong, Augustine, Sigurðsson, Gunnar, Kerrison, Nicola D, Luan, Jian'an, Liang, Liming, Meitinger, Thomas, Roden, Michael, Thorand, Barbara, Esko, Tõnu, Mihailov, Evelin, Fox, Caroline, Liu, Ching-Ti, Rybin, Denis, Isomaa, Bo, Lyssenko, Valeriya, Tuomi, Tiinamaija, Couper, David J, Pankow, James S, Grarup, Niels, Have, Christian T, Jørgensen, Marit E, Jørgensen, Torben, Linneberg, Allan, Cornelis, Marilyn C, van Dam, Rob M, Hunter, David J, Kraft, Peter, Sun, Qi, Edkins, Sarah, Owen, Katharine R, Perry, John RB, Wood, Andrew R, Zeggini, Eleftheria, Tajes-Fernandes, Juan, Abecasis, Goncalo R, Bonnycastle, Lori L, Chines, Peter S, Stringham, Heather M, Koistinen, Heikki A, Kinnunen, Leena, Sennblad, Bengt, Mühleisen, Thomas W, Nöthen, Markus M, Pechlivanis, Sonali, Baldassarre, Damiano, Gertow, Karl, Humphries, Steve E, Tremoli, Elena, Klopp, Norman, Meyer, Julia, and Steinbach, Gerald

Subjects
Human Genome, Diabetes, Obesity, Genetics, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Diabetes Mellitus, Type 2, Gene Expression Regulation, Genetic Variation, Genome-Wide Association Study, Humans, White People, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Medical and Health Sciences, Endocrinology & Metabolism
Abstract

To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects of European ancestry after imputation using the 1000 Genomes multiethnic reference panel. Promising association signals were followed up in additional data sets (of 14,545 or 7,397 T2D case and 38,994 or 71,604 control subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near the GLP2R, GIP, and HLA-DQA1 genes. Our analysis brought the total number of independent T2D associations to 128 distinct signals at 113 loci. Despite substantially increased sample size and more complete coverage of low-frequency variation, all novel associations were driven by common single nucleotide variants. Credible sets of potentially causal variants were generally larger than those based on imputation with earlier reference panels, consistent with resolution of causal signals to common risk haplotypes. Stratification of T2D-associated loci based on T2D-related quantitative trait associations revealed tissue-specific enrichment of regulatory annotations in pancreatic islet enhancers for loci influencing insulin secretion and in adipocytes, monocytes, and hepatocytes for insulin action-associated loci. These findings highlight the predominant role played by common variants of modest effect and the diversity of biological mechanisms influencing T2D pathophysiology.

Published
2017

91. Penetrance of Pathogenic Genetic Variants Associated With Premature Ovarian Insufficiency

Author

Shekari, Saleh, primary, Stankovic, Stasa, additional, Gardner, Eugene J., additional, Hawkes, Gareth, additional, Kentistou, Katherine A., additional, Beaumont, Robin N., additional, Mörseburg, Alexander, additional, Wood, Andrew R., additional, Prague, Julia K., additional, Mishra, Gita D., additional, Day, Felix R., additional, Baptista, Julia, additional, Wright, Caroline F., additional, Weedon, Michael N., additional, Hoffmann, Eva R., additional, Ruth, Katherine S., additional, Ong, Ken K., additional, Perry, John R. B., additional, and Murray, Anna, additional

Published
2024
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92. Mental Toughness

Author

Strycharczyk, Doug, Clough, Peter, Wall, Tony, Perry, John, Leal Filho, Walter, Series Editor, Wall, Tony, editor, Azul, Anabela Marisa, editor, Brandli, Luciana, editor, and Özuyar, Pinar Gökcin, editor

Published
2020
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93. Utterance and Context

Author

de Ponte, María, Korta, Kepa, Perry, John, Condoravdi, Cleo, Series Editor, McNally, Louise, Series Editor, Szabo, Zoltan, Series Editor, Bentham, Johan van, Editorial Board Member, Carlson, Gregory N., Editorial Board Member, Dowty, David, Editorial Board Member, Gazdar, Gerald, Editorial Board Member, Heim, Irene, Editorial Board Member, Klein, Ewan, Editorial Board Member, Ladusaw, Bill, Editorial Board Member, Parsons, Terrence, Editorial Board Member, Ciecierski, Tadeusz, editor, and Grabarczyk, Paweł, editor

Published
2020
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99. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

Author

Willems, Sara M, Wright, Daniel J, Day, Felix R, Trajanoska, Katerina, Joshi, Peter K, Morris, John A, Matteini, Amy M, Garton, Fleur C, Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J, Lotta, Luca A, Miyamoto-Mikami, Eri, Rivas, Manuel A, White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R, Austin, Krista, Benyamin, Beben, Brage, Søren, Cheng, Yu-Ching, Cięszczyk, Paweł, Derave, Wim, Eriksson, Karl-Fredrik, Eynon, Nir, Linneberg, Allan, Lucia, Alejandro, Massidda, Myosotis, Mitchell, Braxton D, Miyachi, Motohiko, Murakami, Haruka, Padmanabhan, Sandosh, Pandey, Ashutosh, Papadimitriou, Ioannis, Rajpal, Deepak K, Sale, Craig, Schnurr, Theresia M, Sessa, Francesco, Shrine, Nick, Tobin, Martin D, Varley, Ian, Wain, Louise V, Wray, Naomi R, Lindgren, Cecilia M, MacArthur, Daniel G, Waterworth, Dawn M, McCarthy, Mark I, Pedersen, Oluf, Khaw, Kay-Tee, Kiel, Douglas P, GEFOS Any-Type of Fracture Consortium, Pitsiladis, Yannis, Fuku, Noriyuki, Franks, Paul W, North, Kathryn N, van Duijn, Cornelia M, Mather, Karen A, Hansen, Torben, Hansson, Ola, Spector, Tim, Murabito, Joanne M, Richards, J Brent, Rivadeneira, Fernando, Langenberg, Claudia, Perry, John RB, Wareham, Nick J, and Scott, Robert A

Subjects
GEFOS Any-Type of Fracture Consortium, Hand, Humans, Actins, Transforming Growth Factor alpha, Membrane Proteins, Neoplasm Proteins, Nuclear Proteins, Repressor Proteins, Hand Strength, Cohort Studies, Genetics, Population, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Genetic Loci, United Kingdom, Prevention, Genetics, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Musculoskeletal
Abstract

Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined sample of 195,180 individuals and identify 16 loci associated with grip strength (P

Published
2017

100. A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Author

Manning, Alisa, Highland, Heather M, Gasser, Jessica, Sim, Xueling, Tukiainen, Taru, Fontanillas, Pierre, Grarup, Niels, Rivas, Manuel A, Mahajan, Anubha, Locke, Adam E, Cingolani, Pablo, Pers, Tune H, Viñuela, Ana, Brown, Andrew A, Wu, Ying, Flannick, Jason, Fuchsberger, Christian, Gamazon, Eric R, Gaulton, Kyle J, Im, Hae Kyung, Teslovich, Tanya M, Blackwell, Thomas W, Bork-Jensen, Jette, Burtt, Noël P, Chen, Yuhui, Green, Todd, Hartl, Christopher, Kang, Hyun Min, Kumar, Ashish, Ladenvall, Claes, Ma, Clement, Moutsianas, Loukas, Pearson, Richard D, Perry, John RB, Rayner, N William, Robertson, Neil R, Scott, Laura J, van de Bunt, Martijn, Eriksson, Johan G, Jula, Antti, Koskinen, Seppo, Lehtimäki, Terho, Palotie, Aarno, Raitakari, Olli T, Jacobs, Suzanne BR, Wessel, Jennifer, Chu, Audrey Y, Scott, Robert A, Goodarzi, Mark O, Blancher, Christine, Buck, Gemma, Buck, David, Chines, Peter S, Gabriel, Stacey, Gjesing, Anette P, Groves, Christopher J, Hollensted, Mette, Huyghe, Jeroen R, Jackson, Anne U, Jun, Goo, Justesen, Johanne Marie, Mangino, Massimo, Murphy, Jacquelyn, Neville, Matt, Onofrio, Robert, Small, Kerrin S, Stringham, Heather M, Trakalo, Joseph, Banks, Eric, Carey, Jason, Carneiro, Mauricio O, DePristo, Mark, Farjoun, Yossi, Fennell, Timothy, Goldstein, Jacqueline I, Grant, George, Hrabé de Angelis, Martin, Maguire, Jared, Neale, Benjamin M, Poplin, Ryan, Purcell, Shaun, Schwarzmayr, Thomas, Shakir, Khalid, Smith, Joshua D, Strom, Tim M, Wieland, Thomas, Lindstrom, Jaana, Brandslund, Ivan, Christensen, Cramer, Surdulescu, Gabriela L, Lakka, Timo A, Doney, Alex SF, Nilsson, Peter, Wareham, Nicholas J, Langenberg, Claudia, Varga, Tibor V, Franks, Paul W, Rolandsson, Olov, Rosengren, Anders H, and Farook, Vidya S

Subjects
Genetics, Diabetes, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Black or African American, Alleles, Asian People, Case-Control Studies, Diabetes Mellitus, Type 2, Fasting, Finland, Gene Frequency, Genetic Predisposition to Disease, Genotype, Hispanic or Latino, Humans, Insulin, Insulin Resistance, Odds Ratio, Proto-Oncogene Proteins c-akt, White People, Medical and Health Sciences, Endocrinology & Metabolism
Abstract

To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.

Published
2017

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