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12 results on '"Jones, Samuel"'

5. Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes

Author

Wang, Heming, Lane, Jacqueline M., Jones, Samuel E., Dashti, Hassan S., Ollila, Hanna M., Wood, Andrew R., van Hees, Vincent T., Brumpton, Ben, Winsvold, Bendik S., Kantojärvi, Katri, Palviainen, Teemu, Cade, Brian E., Sofer, Tamar, Song, Yanwei, Patel, Krunal, Anderson, Simon G., Bechtold, David A., Bowden, Jack, Emsley, Richard, Kyle, Simon D., Little, Max A., Loudon, Andrew S., Scheer, Frank A. J. L., Purcell, Shaun M., Richmond, Rebecca C., Spiegelhalder, Kai, Tyrrell, Jessica, Zhu, Xiaofeng, Hublin, Christer, Kaprio, Jaakko A., Kristiansson, Kati, Sulkava, Sonja, Paunio, Tiina, Hveem, Kristian, Nielsen, Jonas B., Willer, Cristen J., Zwart, John-Anker, Strand, Linn B., Frayling, Timothy M., Ray, David, Lawlor, Deborah A., Rutter, Martin K., Weedon, Michael N., Redline, Susan, and Saxena, Richa

Published
2019
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6. Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour

Author

Jones, Samuel E., van Hees, Vincent T., Mazzotti, Diego R., Marques-Vidal, Pedro, Sabia, Séverine, van der Spek, Ashley, Dashti, Hassan S., Engmann, Jorgen, Kocevska, Desana, Tyrrell, Jessica, Beaumont, Robin N., Hillsdon, Melvyn, Ruth, Katherine S., Tuke, Marcus A., Yaghootkar, Hanieh, Sharp, Seth A., Ji, Yingjie, Harrison, Jamie W., Freathy, Rachel M., Murray, Anna, Luik, Annemarie I., Amin, Najaf, Lane, Jacqueline M., Saxena, Richa, Rutter, Martin K., Tiemeier, Henning, Kutalik, Zoltán, Kumari, Meena, Frayling, Timothy M., Weedon, Michael N., Gehrman, Philip R., and Wood, Andrew R.

Published
2019
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7. Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

Author

Dashti, Hassan S., Jones, Samuel E., Wood, Andrew R., Lane, Jacqueline M., van Hees, Vincent T., Wang, Heming, Rhodes, Jessica A., Song, Yanwei, Patel, Krunal, Anderson, Simon G., Beaumont, Robin N., Bechtold, David A., Bowden, Jack, Cade, Brian E., Garaulet, Marta, Kyle, Simon D., Little, Max A., Loudon, Andrew S., Luik, Annemarie I., Scheer, Frank A. J. L., Spiegelhalder, Kai, Tyrrell, Jessica, Gottlieb, Daniel J., Tiemeier, Henning, Ray, David W., Purcell, Shaun M., Frayling, Timothy M., Redline, Susan, Lawlor, Deborah A., Rutter, Martin K., Weedon, Michael N., and Saxena, Richa

Published
2019
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8. Genetic determinants of daytime napping and effects on cardiometabolic health.

Author

Dashti, Hassan S., Daghlas, Iyas, Lane, Jacqueline M., Huang, Yunru, Udler, Miriam S., Wang, Heming, Ollila, Hanna M., Jones, Samuel E., Kim, Jaegil, Wood, Andrew R., 23andMe Research Team, Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, and Furlotte, Nicholas A.

Subjects
GENES, HYPERTENSION, WAIST circumference, CLUSTER analysis (Statistics), SLEEP disorders
Abstract

Daytime napping is a common, heritable behavior, but its genetic basis and causal relationship with cardiometabolic health remain unclear. Here, we perform a genome-wide association study of self-reported daytime napping in the UK Biobank (n = 452,633) and identify 123 loci of which 61 replicate in the 23andMe research cohort (n = 541,333). Findings include missense variants in established drug targets for sleep disorders (HCRTR1, HCRTR2), genes with roles in arousal (TRPC6, PNOC), and genes suggesting an obesity-hypersomnolence pathway (PNOC, PATJ). Association signals are concordant with accelerometer-measured daytime inactivity duration and 33 loci colocalize with loci for other sleep phenotypes. Cluster analysis identifies three distinct clusters of nap-promoting mechanisms with heterogeneous associations with cardiometabolic outcomes. Mendelian randomization shows potential causal links between more frequent daytime napping and higher blood pressure and waist circumference. The genetic basis of daytime napping and the directional effect of daytime napping on cardiometabolic health are unknown. Here, the authors perform a genome-wide association study on self-reported daytime napping in the UK Biobank and Mendelian randomization to explore causal associations. [ABSTRACT FROM AUTHOR]

Published
2021
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9. Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms

Author

Jones, Samuel E., primary, Lane, Jacqueline M., additional, Wood, Andrew R., additional, van Hees, Vincent T., additional, Tyrrell, Jessica, additional, Beaumont, Robin N., additional, Jeffries, Aaron R., additional, Dashti, Hassan S., additional, Hillsdon, Melvyn, additional, Ruth, Katherine S., additional, Tuke, Marcus A., additional, Yaghootkar, Hanieh, additional, Sharp, Seth A., additional, Jie, Yingjie, additional, Thompson, William D., additional, Harrison, Jamie W., additional, Dawes, Amy, additional, Byrne, Enda M., additional, Tiemeier, Henning, additional, Allebrandt, Karla V., additional, Bowden, Jack, additional, Ray, David W., additional, Freathy, Rachel M., additional, Murray, Anna, additional, Mazzotti, Diego R., additional, Gehrman, Philip R., additional, Lawlor, Debbie A., additional, Frayling, Timothy M., additional, Rutter, Martin K., additional, Hinds, David A., additional, Saxena, Richa, additional, and Weedon, Michael N., additional

Published
2019
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10. ATR inhibitors as a synthetic lethal therapy for tumours deficient in ARID1A

Author

Williamson, Chris T., Miller, Rowan, Pemberton, Helen N., Jones, Samuel E., Campbell, James, Konde, Asha, Badham, Nicholas, Rafiq, Rumana, Brough, Rachel, Gulati, Aditi, Ryan, Colm J., Francis, Jeff, Vermulen, Peter B., Reynolds, Andrew R., Reaper, Philip M., Pollard, John R., Ashworth, Alan, and Lord, Christopher J.

Subjects
Science, genetic processes, Nuclear Proteins, Antineoplastic Agents, Apoptosis, Ataxia Telangiectasia Mutated Proteins, Cell Cycle Checkpoints, Article, Tumour biomarkers, DNA-Binding Proteins, enzymes and coenzymes (carbohydrates), Targeted therapies, Cell Line, Tumor, Humans, RNA Interference, biological phenomena, cell phenomena, and immunity, Engineering sciences. Technology, Transcription Factors
Abstract

Identifying genetic biomarkers of synthetic lethal drug sensitivity effects provides one approach to the development of targeted cancer therapies. Mutations in ARID1A represent one of the most common molecular alterations in human cancer, but therapeutic approaches that target these defects are not yet clinically available. We demonstrate that defects in ARID1A sensitize tumour cells to clinical inhibitors of the DNA damage checkpoint kinase, ATR, both in vitro and in vivo. Mechanistically, ARID1A deficiency results in topoisomerase 2A and cell cycle defects, which cause an increased reliance on ATR checkpoint activity. In ARID1A mutant tumour cells, inhibition of ATR triggers premature mitotic entry, genomic instability and apoptosis. The data presented here provide the pre-clinical and mechanistic rationale for assessing ARID1A defects as a biomarker of single-agent ATR inhibitor response and represents a novel synthetic lethal approach to targeting tumour cells., Mutations in the BAF SWI/SNF complex subunits are frequent in cancers but selective therapeutic approaches are not available yet. Here, the authors demonstrate that defects of ARID1A and other subunits sensitizes cancer cells to the DNA checkpoint kinase inhibitor ATR in a synthetic lethal manner.

Published
2016

11. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Author

Macé, Aurélien, primary, Tuke, Marcus A., additional, Deelen, Patrick, additional, Kristiansson, Kati, additional, Mattsson, Hannele, additional, Nõukas, Margit, additional, Sapkota, Yadav, additional, Schick, Ursula, additional, Porcu, Eleonora, additional, Rüeger, Sina, additional, McDaid, Aaron F., additional, Porteous, David, additional, Winkler, Thomas W., additional, Salvi, Erika, additional, Shrine, Nick, additional, Liu, Xueping, additional, Ang, Wei Q., additional, Zhang, Weihua, additional, Feitosa, Mary F., additional, Venturini, Cristina, additional, van der Most, Peter J., additional, Rosengren, Anders, additional, Wood, Andrew R., additional, Beaumont, Robin N., additional, Jones, Samuel E., additional, Ruth, Katherine S., additional, Yaghootkar, Hanieh, additional, Tyrrell, Jessica, additional, Havulinna, Aki S., additional, Boers, Harmen, additional, Mägi, Reedik, additional, Kriebel, Jennifer, additional, Müller-Nurasyid, Martina, additional, Perola, Markus, additional, Nieminen, Markku, additional, Lokki, Marja-Liisa, additional, Kähönen, Mika, additional, Viikari, Jorma S., additional, Geller, Frank, additional, Lahti, Jari, additional, Palotie, Aarno, additional, Koponen, Päivikki, additional, Lundqvist, Annamari, additional, Rissanen, Harri, additional, Bottinger, Erwin P., additional, Afaq, Saima, additional, Wojczynski, Mary K., additional, Lenzini, Petra, additional, Nolte, Ilja M., additional, Sparsø, Thomas, additional, Schupf, Nicole, additional, Christensen, Kaare, additional, Perls, Thomas T., additional, Newman, Anne B., additional, Werge, Thomas, additional, Snieder, Harold, additional, Spector, Timothy D., additional, Chambers, John C., additional, Koskinen, Seppo, additional, Melbye, Mads, additional, Raitakari, Olli T., additional, Lehtimäki, Terho, additional, Tobin, Martin D., additional, Wain, Louise V., additional, Sinisalo, Juha, additional, Peters, Annette, additional, Meitinger, Thomas, additional, Martin, Nicholas G., additional, Wray, Naomi R., additional, Montgomery, Grant W., additional, Medland, Sarah E., additional, Swertz, Morris A., additional, Vartiainen, Erkki, additional, Borodulin, Katja, additional, Männistö, Satu, additional, Murray, Anna, additional, Bochud, Murielle, additional, Jacquemont, Sébastien, additional, Rivadeneira, Fernando, additional, Hansen, Thomas F., additional, Oldehinkel, Albertine J., additional, Mangino, Massimo, additional, Province, Michael A., additional, Deloukas, Panos, additional, Kooner, Jaspal S., additional, Freathy, Rachel M., additional, Pennell, Craig, additional, Feenstra, Bjarke, additional, Strachan, David P., additional, Lettre, Guillaume, additional, Hirschhorn, Joel, additional, Cusi, Daniele, additional, Heid, Iris M., additional, Hayward, Caroline, additional, Männik, Katrin, additional, Beckmann, Jacques S., additional, Loos, Ruth J. F., additional, Nyholt, Dale R., additional, Metspalu, Andres, additional, Eriksson, Johan G., additional, Weedon, Michael N., additional, Salomaa, Veikko, additional, Franke, Lude, additional, Reymond, Alexandre, additional, Frayling, Timothy M., additional, and Kutalik, Zoltán, additional

Published
2017
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12. Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour

Author

Jones, Samuel E., van Hees, Vincent T., Mazzotti, Diego R., Marques-Vidal, Pedro, Sabia, Séverine, van der Spek, Ashley, Dashti, Hassan S., Engmann, Jorgen, Kocevska, Desana, Tyrrell, Jessica, Beaumont, Robin N., Hillsdon, Melvyn, Ruth, Katherine S., Tuke, Marcus A., Yaghootkar, Hanieh, Sharp, Seth A., Ji, Yingjie, Harrison, Jamie W., Freathy, Rachel M., Murray, Anna, Luik, Annemarie I., Amin, Najaf, Lane, Jacqueline M., Saxena, Richa, Rutter, Martin K., Tiemeier, Henning, Kutalik, Zoltán, Kumari, Meena, Frayling, Timothy M., Weedon, Michael N., Gehrman, Philip R., Wood, Andrew R., Epidemiology, Child and Adolescent Psychiatry / Psychology, Ophthalmology, and Pediatric surgery

Subjects
Sleep Wake Disorders, Serotonin, Waist-Hip Ratio, Polysomnography, Science, Polymorphism, Single Nucleotide, Article, Circadian Rhythm, Accelerometry, Accelerometry/methods, Humans, Polysomnography/methods, Serotonin/genetics, Serotonin/metabolism, Sleep/genetics, Sleep Wake Disorders/diagnosis, Sleep Wake Disorders/genetics, lcsh:Q, lcsh:Science, Sleep
Abstract

Sleep is an essential human function but its regulation is poorly understood. Using accelerometer data from 85,670 UK Biobank participants, we perform a genome-wide association study of 8 derived sleep traits representing sleep quality, quantity and timing, and validate our findings in 5,819 individuals. We identify 47 genetic associations at P, Quality, quantity and timing of sleep are important factors for overall human health. Here, the authors perform GWAS for sleep traits estimated using wearable accelerometers and identify 47 genetic associations, including 26 novel associations for measures of sleep quality and 10 for nocturnal sleep duration.

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