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Ian M. Evans

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https://www.readbyqxmd.com/read/27899403/meta-analysis-of-genome-wide-association-studies-for-abdominal-aortic-aneurysm-identifies-four-new-disease-specific-risk-loci
#1
Gregory T Jones, Gerard Tromp, Helena Kuivaniemi, Solveig Gretarsdottir, Annette F Baas, Betti Giusti, Ewa Strauss, Femke N van 't Hof, Thomas Webb, Robert Erdman, Marylyn D Ritchie, James R Elmore, Anurag Verma, Sarah Pendergrass, Iftikhar J Kullo, Zi Ye, Peggy L Peissig, Omri Gottesman, Shefali S Verma, Jennifer Malinowski, Laura J Rasmussen-Torvik, Kenneth Borthwick, Diane T Smelser, David R Crosslin, Mariza de Andrade, Evan J Ryer, Catherine A McCarty, Erwin P Bottinger, Jennifer A Pacheco, Dana C Crawford, David S Carrell, Glenn S Gerhard, David P Franklin, David J Carey, Victoria L Phillips, Michael J Williams, Wenhua Wei, Ross Blair, Andrew A Hill, Thodur M Vasudevan, David R Lewis, Ian A Thomson, Jo Krysa, Geraldine B Hill, Justin Roake, Tony R Merriman, Grzegorz Oszkinis, Silvia Galora, Claudia Saracini, Rosanna Abbate, Raffaele Pulli, Carlo Pratesi, Athanasios Saratzis, Anna Verissimo, Suzannah J Bumpstead, Stephen A Badger, Rachel E Clough, Gillian W Cockerill, Hany Hafez, D J Scott, T S Futers, Simon P Romaine, Katherine Bridge, Kathryn J Griffin, Marc A Bailey, Alberto Smith, Matt M Thompson, Frank van Bockxmeer, Stefan E Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jan D Blankensteijn, Joep A Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A Kiemeney, Jes S Lindholt, Anne E Hughes, Declan T Bradley, Kathleen Stirrups, Jonathan Golledge, Paul E Norman, Janet T Powell, Steve E Humphries, Stephen E Hamby, Alison H Goodall, Christopher P Nelson, Natzi Sakalihasan, Audrey Courtois, Robert E Ferrell, Per Eriksson, Lasse Folkersen, Anders Franco-Cereceda, John D Eicher, Andrew D Johnson, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric Schadt, Johan L Björkegren, Leonard Lipovich, Anne M Drolet, Eric Verhoeven, Clark J Zeebregts, Robert H Geelkerken, Marc R van Sambeek, Steven M van Sterkenburg, Jean-Paul P de Vries, Kari Stefansson, John R Thompson, Paul I de Bakker, Panos Deloukas, Robert D Sayers, Seamus Harrison, Andre M van Rij, Nilesh J Samani, Matthew J Bown
RATIONALE: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. OBJECTIVE: To identify additional AAA risk loci using data from all available genome-wide association studies (GWAS). METHODS AND RESULTS: Through a meta-analysis of 6 GWAS datasets and a validation study totalling 10,204 cases and 107,766 controls we identified 4 new AAA risk loci: 1q32...
November 29, 2016: Circulation Research
https://www.readbyqxmd.com/read/27846606/emergence-and-spread-of-a-human-transmissible-multidrug-resistant-nontuberculous-mycobacterium
#2
Josephine M Bryant, Dorothy M Grogono, Daniela Rodriguez-Rincon, Isobel Everall, Karen P Brown, Pablo Moreno, Deepshikha Verma, Emily Hill, Judith Drijkoningen, Peter Gilligan, Charles R Esther, Peadar G Noone, Olivia Giddings, Scott C Bell, Rachel Thomson, Claire E Wainwright, Chris Coulter, Sushil Pandey, Michelle E Wood, Rebecca E Stockwell, Kay A Ramsay, Laura J Sherrard, Timothy J Kidd, Nassib Jabbour, Graham R Johnson, Luke D Knibbs, Lidia Morawska, Peter D Sly, Andrew Jones, Diana Bilton, Ian Laurenson, Michael Ruddy, Stephen Bourke, Ian C J W Bowler, Stephen J Chapman, Andrew Clayton, Mairi Cullen, Owen Dempsey, Miles Denton, Maya Desai, Richard J Drew, Frank Edenborough, Jason Evans, Jonathan Folb, Thomas Daniels, Helen Humphrey, Barbara Isalska, Søren Jensen-Fangel, Bodil Jönsson, Andrew M Jones, Terese L Katzenstein, Troels Lillebaek, Gordon MacGregor, Sarah Mayell, Michael Millar, Deborah Modha, Edward F Nash, Christopher O'Brien, Deirdre O'Brien, Chandra Ohri, Caroline S Pao, Daniel Peckham, Felicity Perrin, Audrey Perry, Tania Pressler, Laura Prtak, Tavs Qvist, Ali Robb, Helen Rodgers, Kirsten Schaffer, Nadia Shafi, Jakko van Ingen, Martin Walshaw, Danie Watson, Noreen West, Joanna Whitehouse, Charles S Haworth, Simon R Harris, Diane Ordway, Julian Parkhill, R Andres Floto
Lung infections with Mycobacterium abscessus, a species of multidrug-resistant nontuberculous mycobacteria, are emerging as an important global threat to individuals with cystic fibrosis (CF), in whom M. abscessus accelerates inflammatory lung damage, leading to increased morbidity and mortality. Previously, M. abscessus was thought to be independently acquired by susceptible individuals from the environment. However, using whole-genome analysis of a global collection of clinical isolates, we show that the majority of M...
November 11, 2016: Science
https://www.readbyqxmd.com/read/27827358/impact-of-mutational-profiles-on-response-of-primary-oestrogen-receptor-positive-breast-cancers-to-oestrogen-deprivation
#3
Pascal Gellert, Corrinne V Segal, Qiong Gao, Elena López-Knowles, Lesley-Ann Martin, Andrew Dodson, Tiandao Li, Christopher A Miller, Charles Lu, Elaine R Mardis, Alexa Gillman, James Morden, Manuela Graf, Kally Sidhu, Abigail Evans, Michael Shere, Christopher Holcombe, Stuart A McIntosh, Nigel Bundred, Anthony Skene, William Maxwell, John Robertson, Judith M Bliss, Ian Smith, Mitch Dowsett
Pre-surgical studies allow study of the relationship between mutations and response of oestrogen receptor-positive (ER+) breast cancer to aromatase inhibitors (AIs) but have been limited to small biopsies. Here in phase I of this study, we perform exome sequencing on baseline, surgical core-cuts and blood from 60 patients (40 AI treated, 20 controls). In poor responders (based on Ki67 change), we find significantly more somatic mutations than good responders. Subclones exclusive to baseline or surgical cores occur in ∼30% of tumours...
November 9, 2016: Nature Communications
https://www.readbyqxmd.com/read/27798627/genome-wide-analysis-identifies-12-loci-influencing-human-reproductive-behavior
#4
Nicola Barban, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J Mandemakers, Felix C Tropf, Xia Shen, James F Wilson, Daniel I Chasman, Ilja M Nolte, Vinicius Tragante, Sander W van der Laan, John R B Perry, Augustine Kong, Tarunveer S Ahluwalia, Eva Albrecht, Laura Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin Ayers, Andrew Bakshi, Danny Ben-Avraham, Klaus Berger, Aviv Bergman, Lars Bertram, Lawrence F Bielak, Gyda Bjornsdottir, Marc Jan Bonder, Linda Broer, Minh Bui, Caterina Barbieri, Alana Cavadino, Jorge E Chavarro, Constance Turman, Maria Pina Concas, Heather J Cordell, Gail Davies, Peter Eibich, Nicholas Eriksson, Tõnu Esko, Joel Eriksson, Fahimeh Falahi, Janine F Felix, Mark Alan Fontana, Lude Franke, Ilaria Gandin, Audrey J Gaskins, Christian Gieger, Erica P Gunderson, Xiuqing Guo, Caroline Hayward, Chunyan He, Edith Hofer, Hongyan Huang, Peter K Joshi, Stavroula Kanoni, Robert Karlsson, Stefan Kiechl, Annette Kifley, Alexander Kluttig, Peter Kraft, Vasiliki Lagou, Cecile Lecoeur, Jari Lahti, Ruifang Li-Gao, Penelope A Lind, Tian Liu, Enes Makalic, Crysovalanto Mamasoula, Lindsay Matteson, Hamdi Mbarek, Patrick F McArdle, George McMahon, S Fleur W Meddens, Evelin Mihailov, Mike Miller, Stacey A Missmer, Claire Monnereau, Peter J van der Most, Ronny Myhre, Mike A Nalls, Teresa Nutile, Ioanna Panagiota Kalafati, Eleonora Porcu, Inga Prokopenko, Kumar B Rajan, Janet Rich-Edwards, Cornelius A Rietveld, Antonietta Robino, Lynda M Rose, Rico Rueedi, Kathleen A Ryan, Yasaman Saba, Daniel Schmidt, Jennifer A Smith, Lisette Stolk, Elizabeth Streeten, Anke Tönjes, Gudmar Thorleifsson, Sheila Ulivi, Juho Wedenoja, Juergen Wellmann, Peter Willeit, Jie Yao, Loic Yengo, Jing Hua Zhao, Wei Zhao, Daria V Zhernakova, Najaf Amin, Howard Andrews, Beverley Balkau, Nir Barzilai, Sven Bergmann, Ginevra Biino, Hans Bisgaard, Klaus Bønnelykke, Dorret I Boomsma, Julie E Buring, Harry Campbell, Stefania Cappellani, Marina Ciullo, Simon R Cox, Francesco Cucca, Daniela Toniolo, George Davey-Smith, Ian J Deary, George Dedoussis, Panos Deloukas, Cornelia M van Duijn, Eco J C de Geus, Johan G Eriksson, Denis A Evans, Jessica D Faul, Cinzia Felicita Sala, Philippe Froguel, Paolo Gasparini, Giorgia Girotto, Hans-Jörgen Grabe, Karin Halina Greiser, Patrick J F Groenen, Hugoline G de Haan, Johannes Haerting, Tamara B Harris, Andrew C Heath, Kauko Heikkilä, Albert Hofman, Georg Homuth, Elizabeth G Holliday, John Hopper, Elina Hyppönen, Bo Jacobsson, Vincent W V Jaddoe, Magnus Johannesson, Astanand Jugessur, Mika Kähönen, Eero Kajantie, Sharon L R Kardia, Bernard Keavney, Ivana Kolcic, Päivikki Koponen, Peter Kovacs, Florian Kronenberg, Zoltan Kutalik, Martina La Bianca, Genevieve Lachance, William G Iacono, Sandra Lai, Terho Lehtimäki, David C Liewald, Cecilia M Lindgren, Yongmei Liu, Robert Luben, Michael Lucht, Riitta Luoto, Per Magnus, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Ruth McQuillan, Sarah E Medland, Christa Meisinger, Dan Mellström, Andres Metspalu, Michela Traglia, Lili Milani, Paul Mitchell, Grant W Montgomery, Dennis Mook-Kanamori, Renée de Mutsert, Ellen A Nohr, Claes Ohlsson, Jørn Olsen, Ken K Ong, Lavinia Paternoster, Alison Pattie, Brenda W J H Penninx, Markus Perola, Patricia A Peyser, Mario Pirastu, Ozren Polasek, Chris Power, Jaakko Kaprio, Leslie J Raffel, Katri Räikkönen, Olli Raitakari, Paul M Ridker, Susan M Ring, Kathryn Roll, Igor Rudan, Daniela Ruggiero, Dan Rujescu, Veikko Salomaa, David Schlessinger, Helena Schmidt, Reinhold Schmidt, Nicole Schupf, Johannes Smit, Rossella Sorice, Tim D Spector, John M Starr, Doris Stöckl, Konstantin Strauch, Michael Stumvoll, Morris A Swertz, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Joyce Y Tung, André G Uitterlinden, Simona Vaccargiu, Jorma Viikari, Veronique Vitart, Henry Völzke, Peter Vollenweider, Dragana Vuckovic, Johannes Waage, Gert G Wagner, Jie Jin Wang, Nicholas J Wareham, David R Weir, Gonneke Willemsen, Johann Willeit, Alan F Wright, Krina T Zondervan, Kari Stefansson, Robert F Krueger, James J Lee, Daniel J Benjamin, David Cesarini, Philipp D Koellinger, Marcel den Hoed, Harold Snieder, Melinda C Mills
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort...
October 31, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27727279/regulatory-t-cell-responses-in-participants-with-type-1-diabetes-after-a-single-dose-of-interleukin-2-a-non-randomised-open-label-adaptive-dose-finding-trial
#5
John A Todd, Marina Evangelou, Antony J Cutler, Marcin L Pekalski, Neil M Walker, Helen E Stevens, Linsey Porter, Deborah J Smyth, Daniel B Rainbow, Ricardo C Ferreira, Laura Esposito, Kara M D Hunter, Kevin Loudon, Kathryn Irons, Jennie H Yang, Charles J M Bell, Helen Schuilenburg, James Heywood, Ben Challis, Sankalpa Neupane, Pamela Clarke, Gillian Coleman, Sarah Dawson, Donna Goymer, Katerina Anselmiova, Jane Kennet, Judy Brown, Sarah L Caddy, Jia Lu, Jane Greatorex, Ian Goodfellow, Chris Wallace, Tim I Tree, Mark Evans, Adrian P Mander, Simon Bond, Linda S Wicker, Frank Waldron-Lynch
BACKGROUND: Interleukin-2 (IL-2) has an essential role in the expansion and function of CD4+ regulatory T cells (Tregs). Tregs reduce tissue damage by limiting the immune response following infection and regulate autoreactive CD4+ effector T cells (Teffs) to prevent autoimmune diseases, such as type 1 diabetes (T1D). Genetic susceptibility to T1D causes alterations in the IL-2 pathway, a finding that supports Tregs as a cellular therapeutic target. Aldesleukin (Proleukin; recombinant human IL-2), which is administered at high doses to activate the immune system in cancer immunotherapy, is now being repositioned to treat inflammatory and autoimmune disorders at lower doses by targeting Tregs...
October 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27694991/novel-genetic-loci-underlying-human-intracranial-volume-identified-through-genome-wide-association
#6
Hieab H H Adams, Derrek P Hibar, Vincent Chouraki, Jason L Stein, Paul A Nyquist, Miguel E Rentería, Stella Trompet, Alejandro Arias-Vasquez, Sudha Seshadri, Sylvane Desrivières, Ashley H Beecham, Neda Jahanshad, Katharina Wittfeld, Sven J Van der Lee, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Alexa Beiser, Manon Bernard, Joshua C Bis, Laura M E Blanken, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Ganesh Chauhan, Qiang Chen, Christopher R K Ching, Gabriel Cuellar-Partida, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Irina Filippi, Tian Ge, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Corina U Greven, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Johanna Hass, Unn K Haukvik, Saima Hilal, Edith Hofer, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, Jiemin Liao, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, Bernard Mazoyer, David R McKay, Rebekah McWhirter, Yuri Milaneschi, Nazanin Mirza-Schreiber, Ryan L Muetzel, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Irene Pappa, Lukas Pirpamer, Sara Pudas, Benno Pütz, Kumar B Rajan, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Russell Thomson, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Dhananjay Vaidya, Jeroen Van der Grond, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Bing Xu, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Neelum T Aggarwal, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Christopher Chen, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Eco J C De Geus, Philip L De Jager, Greig I de Zubicaray, Norman Delanty, Chantal Depondt, Anita L DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Thomas Espeseth, Denis A Evans, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Hans J Grabe, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Hilleke E Hulshoff Pol, Masashi Ikeda, M Kamran Ikram, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, W T Longstreth, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Katie L McMahon, Francis J McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Peter R Schofield, Sigurdur Sigurdsson, Andy Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Velandai Srikanth, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Henning Tiemeier, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Jessica A Turner, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad Van der Lugt, Nic J A Van der Wee, Cornelia M Van Duijn, Neeltje E M Van Haren, Dennis Van T Ent, Marie-Jose Van Tol, Badri N Vardarajan, Dick J Veltman, Meike W Vernooij, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, H Ronald Zielke, Alan B Zonderman, Ian J Deary, Charles DeCarli, Helena Schmidt, Nicholas G Martin, Anton J M De Craen, Margaret J Wright, Lenore J Launer, Gunter Schumann, Myriam Fornage, Barbara Franke, Stéphanie Debette, Sarah E Medland, M Arfan Ikram, Paul M Thompson
Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height...
December 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27672029/the-role-of-the-autonomic-nervous-system-in-the-regulation-of-aortic-stiffness
#7
Kaisa M Mäki-Petäjä, Sharon M L Barrett, Sarah V Evans, Joseph Cheriyan, Carmel M McEniery, Ian B Wilkinson
The autonomic nervous system is important in regulating blood pressure, but whether it regulates aortic stiffness is more contentious. We conducted 3 studies in young, healthy individuals to address this important question. Study 1 was a cross-sectional study of 347 subjects with detailed measurements of hemodynamics and heart rate variability. In study 2, 9 subjects were given a bolus of intravenous nicotinic ganglion blocker, pentolinium, or saline in a random order and hemodynamics and heart rate variability were assessed before and after...
November 2016: Hypertension
https://www.readbyqxmd.com/read/27670948/denial-of-long-term-issues-with-agriculture-on-tropical-peatlands-will-have-devastating-consequences
#8
Lahiru S Wijedasa, Jyrki Jauhiainen, Mari Könönen, Maija Lampela, Harri Vasander, Marie-Claire LeBlanc, Stephanie Evers, Thomas E L Smith, Catherine M Yule, Helena Varkkey, Massimo Lupascu, Faizal Parish, Ian Singleton, Gopalasamy R Clements, Sheema Abdul Aziz, Mark E Harrison, Susan Cheyne, Gusti Z Anshari, Erik Meijaard, Jenny E Goldstein, Susan Waldron, Kristell Hergoualc'h, René Dommain, Steve Frolking, Christopher D Evans, Mary Rose C Posa, Paul H Glaser, Nyoman Suryadiputra, Reza Lubis, Truly Santika, Rory Padfield, Sofyan Kurnianto, Panut Hadisiswoyo, Teck Wyn Lim, Susan E Page, Vincent Gauci, Peter J van der Meer, Helen Buckland, Fabien Garnier, Marshall K Samuel, Liza Nuriati Lim Kim Choo, Patrick O'Reilly, Matthew Warren, Surin Suksuwan, Elham Sumarga, Anuj Jain, William F Laurance, John Couwenberg, Hans Joosten, Ronald Vernimmen, Aljosja Hooijer, Chris Malins, Mark A Cochrane, Balu Perumal, Florian Siegert, Kelvin S-H Peh, Louis-Pierre Comeau, Louis Verchot, Charles F Harvey, Alex Cobb, Zeehan Jaafar, Henk Wösten, Solichin Manuri, Moritz Müller, Wim Giesen, Jacob Phelps, Ding Li Yong, Marcel Silvius, Béatrice M M Wedeux, Alison Hoyt, Mitsuru Osaki, Hirano Takashi, Hidenori Takahashi, Takashi S Kohyama, Akira Haraguchi, Nunung P Nugroho, David A Coomes, Le Phat Quoi, Alue Dohong, Haris Gunawan, David L A Gaveau, Andreas Langner, Felix K S Lim, David P Edwards, Xingli Giam, Guido van der Werf, Rachel Carmenta, Caspar C Verwer, Luke Gibson, Laure Grandois, Laura Linda Bozena Graham, Jhanson Regalino, Serge A Wich, Jack Rieley, Nicholas Kettridge, Chloe Brown, Romain Pirard, Sam Moore, B Ripoll Capilla, Uwe Ballhorn, Hua Chew Ho, Agata Hoscilo, Sandra Lohberger, Theodore A Evans, Nina Yulianti, Grace Blackham, Onrizal, Simon Husson, Daniel Murdiyarso, Sunita Pangala, Lydia E S Cole, Luca Tacconi, Hendrik Segah, Prayoto Tonoto, Janice S H Lee, Gerald Schmilewski, Stephan Wulffraat, Erianto Indra Putra, Megan E Cattau, R S Clymo, Ross Morrison, Aazani Mujahid, Jukka Miettinen, Soo Chin Liew, Samu Valpola, David Wilson, Laura D'Arcy, Michiel Gerding, Siti Sundari, Sara A Thornton, Barbara Kalisz, Stephen J Chapman, Ahmad Suhaizi Mat Su, Imam Basuki, Masayuki Itoh, Carl Traeholt, Sean Sloan, Alexander K Sayok, Roxane Andersen
The first International Peat Congress (IPC) held in the tropics - in Kuching (Malaysia) - brought together over 1000 international peatland scientists and industrial partners from across the world ("International Peat Congress with over 1000 participants!," 2016). The congress covered all aspects of peatland ecosystems and their management, with a strong focus on the environmental, societal and economic challenges associated with contemporary large-scale agricultural conversion of tropical peat. This article is protected by copyright...
September 27, 2016: Global Change Biology
https://www.readbyqxmd.com/read/27664981/associations-between-education-and-brain-structure-at-age-73-years-adjusted-for-age-11-iq
#9
Simon R Cox, David Alexander Dickie, Stuart J Ritchie, Sherif Karama, Alison Pattie, Natalie A Royle, Janie Corley, Benjamin S Aribisala, Maria Valdés Hernández, Susana Muñoz Maniega, John M Starr, Mark E Bastin, Alan C Evans, Joanna M Wardlaw, Ian J Deary
OBJECTIVE: To investigate how associations between education and brain structure in older age were affected by adjusting for IQ measured at age 11. METHODS: We analyzed years of full-time education and measures from an MRI brain scan at age 73 in 617 community-dwelling adults born in 1936. In addition to average and vertex-wise cortical thickness, we measured total brain atrophy and white matter tract fractional anisotropy. Associations between brain structure and education were tested, covarying for sex and vascular health; a second model also covaried for age 11 IQ...
September 24, 2016: Neurology
https://www.readbyqxmd.com/read/27631024/pik3ca-associated-developmental-disorders-exhibit-distinct-classes-of-mutations-with-variable-expression-and-tissue-distribution
#10
Ghayda Mirzaa, Andrew E Timms, Valerio Conti, Evan August Boyle, Katta M Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Stephen Braddock, Leah Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna Saitta, Rachel Straussberg, Michael Gabbett, Bridget C O'Connor, Catherine E Keegan, Lim Jiin Yin, Angeline Hwei Meeng Lai, Nicole Martin, Margaret McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E Schwartz, Agustina Lanoel, Robert L Conway, Koenraad Devriendt, Katrina Tatton-Brown, Mary Ella Pierpont, Michael Painter, Lisa Worgan, James Reggin, Raoul Hennekam, Karen Tsuchiya, Colin C Pritchard, Mariana Aracena, Karen W Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia Curry, Anne Goriely, Hulya Kayserilli, Jay Shendure, John Graham, Renzo Guerrini, William B Dobyns
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identified PIK3CA mutations in 60 individuals...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27601076/functional-mechanisms-underlying-pleiotropic-risk-alleles-at-the-19p13-1-breast-ovarian-cancer-susceptibility-locus
#11
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
September 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27591082/haprap-a-haplotype-based-iterative-method-for-statistical-fine-mapping-using-gwas-summary-statistics
#12
Jie Zheng, Santiago Rodriguez, Charles Laurin, Denis Baird, Lea Trela-Larsen, Mesut A Erzurumluoglu, Yi Zheng, Jon White, Claudia Giambartolomei, Delilah Zabaneh, Richard Morris, Meena Kumari, Juan P Casas, Aroon D Hingorani, David M Evans, Tom R Gaunt, Ian N M Day
MOTIVATION: Fine mapping is a widely used approach for identifying the causal variant(s) at disease-associated loci. Standard methods (e.g. multiple regression) require individual level genotypes. Recent fine mapping methods using summary-level data require the pairwise correlation coefficients (r(2)) of the variants. However, haplotypes rather than pairwise r(2), are the true biological representation of linkage disequilibrium (LD) among multiple loci. In this paper, we present an empirical iterative method, HAPlotype Regional Association analysis Program (HAPRAP), that enables fine mapping using summary statistics and haplotype information from an individual-level reference panel...
September 1, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27587472/meta-analysis-of-genome-wide-association-studies-of-hdl-cholesterol-response-to-statins
#13
Iris Postmus, Helen R Warren, Stella Trompet, Benoit J Arsenault, Christy L Avery, Joshua C Bis, Daniel I Chasman, Catherine E de Keyser, Harshal A Deshmukh, Daniel S Evans, QiPing Feng, Xiaohui Li, Roelof A J Smit, Albert V Smith, Fangui Sun, Kent D Taylor, Alice M Arnold, Michael R Barnes, Bryan J Barratt, John Betteridge, S Matthijs Boekholdt, Eric Boerwinkle, Brendan M Buckley, Y-D Ida Chen, Anton J M de Craen, Steven R Cummings, Joshua C Denny, Marie Pierre Dubé, Paul N Durrington, Gudny Eiriksdottir, Ian Ford, Xiuqing Guo, Tamara B Harris, Susan R Heckbert, Albert Hofman, G Kees Hovingh, John J P Kastelein, Leonore J Launer, Ching-Ti Liu, Yongmei Liu, Thomas Lumley, Paul M McKeigue, Patricia B Munroe, Andrew Neil, Deborah A Nickerson, Fredrik Nyberg, Eoin O'Brien, Christopher J O'Donnell, Wendy Post, Neil Poulter, Ramachandran S Vasan, Kenneth Rice, Stephen S Rich, Fernando Rivadeneira, Naveed Sattar, Peter Sever, Sue Shaw-Hawkins, Denis C Shields, P Eline Slagboom, Nicholas L Smith, Joshua D Smith, Nona Sotoodehnia, Alice Stanton, David J Stott, Bruno H Stricker, Til Stürmer, André G Uitterlinden, Wei-Qi Wei, Rudi G J Westendorp, Eric A Whitsel, Kerri L Wiggins, Russell A Wilke, Christie M Ballantyne, Helen M Colhoun, L Adrienne Cupples, Oscar H Franco, Vilmundur Gudnason, Graham Hitman, Colin N A Palmer, Bruce M Psaty, Paul M Ridker, Jeanette M Stafford, Charles M Stein, Jean-Claude Tardif, Mark J Caulfield, J Wouter Jukema, Jerome I Rotter, Ronald M Krauss
BACKGROUND: In addition to lowering low density lipoprotein cholesterol (LDL-C), statin therapy also raises high density lipoprotein cholesterol (HDL-C) levels. Inter-individual variation in HDL-C response to statins may be partially explained by genetic variation. METHODS AND RESULTS: We performed a meta-analysis of genome-wide association studies (GWAS) to identify variants with an effect on statin-induced high density lipoprotein cholesterol (HDL-C) changes. The 123 most promising signals with p<1×10(-4) from the 16 769 statin-treated participants in the first analysis stage were followed up in an independent group of 10 951 statin-treated individuals, providing a total sample size of 27 720 individuals...
September 1, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27463617/fine-scale-mapping-at-9p22-2-identifies-candidate-causal-variants-that-modify-ovarian-cancer-risk-in-brca1-and-brca2-mutation-carriers
#14
Elena Vigorito, Karoline B Kuchenbaecker, Jonathan Beesley, Julian Adlard, Bjarni A Agnarsson, Irene L Andrulis, Banu K Arun, Laure Barjhoux, Muriel Belotti, Javier Benitez, Andreas Berger, Anders Bojesen, Bernardo Bonanni, Carole Brewer, Trinidad Caldes, Maria A Caligo, Ian Campbell, Salina B Chan, Kathleen B M Claes, David E Cohn, Jackie Cook, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Antoine de Pauw, Capucine Delnatte, Orland Diez, Susan M Domchek, Martine Dumont, Katarzyna Durda, Bernd Dworniczak, Douglas F Easton, Diana Eccles, Christina Edwinsdotter Ardnor, Ros Eeles, Bent Ejlertsen, Steve Ellis, D Gareth Evans, Lidia Feliubadalo, Florentia Fostira, William D Foulkes, Eitan Friedman, Debra Frost, Pragna Gaddam, Patricia A Ganz, Judy Garber, Vanesa Garcia-Barberan, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Sophie Giraud, Andrew K Godwin, David E Goldgar, Christopher R Hake, Thomas V O Hansen, Sue Healey, Shirley Hodgson, Frans B L Hogervorst, Claude Houdayer, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Lauren Jacobs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Joseph Vijai, Beth Y Karlan, Karin Kast, KConFab Investigators, Sofia Khan, Ava Kwong, Yael Laitman, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jan Lubinski, Phuong L Mai, Siranoush Manoukian, Sylvie Mazoyer, Alfons Meindl, Arjen R Mensenkamp, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Ana Osorio, Sue Kyung Park, Ylva Paulsson-Karlsson, Inge Sokilde Pedersen, Bernard Peissel, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Marion Piedmonte, Bruce Poppe, Miquel Angel Pujana, Paolo Radice, Gad Rennert, Gustavo C Rodriguez, Matti A Rookus, Eric A Ross, Rita Katharina Schmutzler, Jacques Simard, Christian F Singer, Thomas P Slavin, Penny Soucy, Melissa Southey, Doris Steinemann, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Athanassios Vratimos, Jeffrey N Weitzel, Lesley McGuffog, Judy Kirk, Amanda Ewart Toland, Ute Hamann, Noralane Lindor, Susan J Ramus, Mark H Greene, Fergus J Couch, Kenneth Offit, Paul D P Pharoah, Georgia Chenevix-Trench, Antonis C Antoniou
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework...
2016: PloS One
https://www.readbyqxmd.com/read/27392080/clinical-sequencing-exploratory-research-consortium-accelerating-evidence-based-practice-of-genomic-medicine
#15
Robert C Green, Katrina A B Goddard, Gail P Jarvik, Laura M Amendola, Paul S Appelbaum, Jonathan S Berg, Barbara A Bernhardt, Leslie G Biesecker, Sawona Biswas, Carrie L Blout, Kevin M Bowling, Kyle B Brothers, Wylie Burke, Charlisse F Caga-Anan, Arul M Chinnaiyan, Wendy K Chung, Ellen W Clayton, Gregory M Cooper, Kelly East, James P Evans, Stephanie M Fullerton, Levi A Garraway, Jeremy R Garrett, Stacy W Gray, Gail E Henderson, Lucia A Hindorff, Ingrid A Holm, Michelle Huckaby Lewis, Carolyn M Hutter, Pasi A Janne, Steven Joffe, David Kaufman, Bartha M Knoppers, Barbara A Koenig, Ian D Krantz, Teri A Manolio, Laurence McCullough, Jean McEwen, Amy McGuire, Donna Muzny, Richard M Myers, Deborah A Nickerson, Jeffrey Ou, Donald W Parsons, Gloria M Petersen, Sharon E Plon, Heidi L Rehm, J Scott Roberts, Dan Robinson, Joseph S Salama, Sarah Scollon, Richard R Sharp, Brian Shirts, Nancy B Spinner, Holly K Tabor, Peter Tarczy-Hornoch, David L Veenstra, Nikhil Wagle, Karen Weck, Benjamin S Wilfond, Kirk Wilhelmsen, Susan M Wolf, Julia Wynn, Joon-Ho Yu
No abstract text is available yet for this article.
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27391657/pediatric-craniofacial-fractures-trajectories-and-ramifications
#16
Sanjay Naran, Zoe MacIsaac, Evan Katzel, Michael Bykowski, Sameer Shakir, Jesse Goldstein, Ian M Pollack, Joseph E Losee
BACKGROUND: The pediatric craniofacial skeleton fractures in patterns distinct from those typical in adults; this has implications pertinent to management that may go unrecognized. The authors reviewed multilevel pediatric craniofacial fractures presenting to their institution, surmising that they would display an oblique trajectory of fracture patterns, and would be at increased risk of growing skull fractures (GSFs), compared with adults. METHODS: A retrospective review was performed of pediatric patients presenting with multilevel craniofacial fractures between 2004 and 2010...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27355579/correction-the-influence-of-age-and-sex-on-genetic-associations-with-adult-body-size-and-shape-a-large-scale-genome-wide-interaction-study
#17
Thomas W Winkler, Anne E Justice, Mariaelisa Graff, Llilda Barata, Mary F Feitosa, Su Chu, Jacek Czajkowski, Tõnu Esko, Tove Fall, Tuomas O Kilpeläinen, Yingchang Lu, Reedik Mägi, Evelin Mihailov, Tune H Pers, Sina Rüeger, Alexander Teumer, Georg B Ehret, Teresa Ferreira, Nancy L Heard-Costa, Juha Karjalainen, Vasiliki Lagou, Anubha Mahajan, Michael D Neinast, Inga Prokopenko, Jeannette Simino, Tanya M Teslovich, Rick Jansen, Harm-Jan Westra, Charles C White, Devin Absher, Tarunveer S Ahluwalia, Shafqat Ahmad, Eva Albrecht, Alexessander Couto Alves, Jennifer L Bragg-Gresham, Anton J M de Craen, Joshua C Bis, Amélie Bonnefond, Gabrielle Boucher, Gemma Cadby, Yu-Ching Cheng, Charleston W K Chiang, Graciela Delgado, Ayse Demirkan, Nicole Dueker, Niina Eklund, Gudny Eiriksdottir, Joel Eriksson, Bjarke Feenstra, Krista Fischer, Francesca Frau, Tessel E Galesloot, Frank Geller, Anuj Goel, Mathias Gorski, Tanja B Grammer, Stefan Gustafsson, Saskia Haitjema, Jouke-Jan Hottenga, Jennifer E Huffman, Anne U Jackson, Kevin B Jacobs, Åsa Johansson, Marika Kaakinen, Marcus E Kleber, Jari Lahti, Irene Mateo Leach, Benjamin Lehne, Youfang Liu, Ken Sin Lo, Mattias Lorentzon, Jian'an Luan, Pamela A F Madden, Massimo Mangino, Barbara McKnight, Carolina Medina-Gomez, Keri L Monda, May E Montasser, Gabriele Müller, Martina Müller-Nurasyid, Ilja M Nolte, Kalliope Panoutsopoulou, Laura Pascoe, Lavinia Paternoster, Nigel W Rayner, Frida Renström, Federica Rizzi, Lynda M Rose, Kathy A Ryan, Perttu Salo, Serena Sanna, Hubert Scharnagl, Jianxin Shi, Albert Vernon Smith, Lorraine Southam, Alena Stančáková, Valgerdur Steinthorsdottir, Rona J Strawbridge, Yun Ju Sung, Ioanna Tachmazidou, Toshiko Tanaka, Gudmar Thorleifsson, Stella Trompet, Natalia Pervjakova, Jonathan P Tyrer, Liesbeth Vandenput, Sander W van der Laan, Nathalie van der Velde, Jessica van Setten, Jana V van Vliet-Ostaptchouk, Niek Verweij, Efthymia Vlachopoulou, Lindsay L Waite, Sophie R Wang, Zhaoming Wang, Sarah H Wild, Christina Willenborg, James F Wilson, Andrew Wong, Jian Yang, Loïc Yengo, Laura M Yerges-Armstrong, Lei Yu, Weihua Zhang, Jing Hua Zhao, Ehm A Andersson, Stephan J L Bakker, Damiano Baldassarre, Karina Banasik, Matteo Barcella, Cristina Barlassina, Claire Bellis, Paola Benaglio, John Blangero, Matthias Blüher, Fabrice Bonnet, Lori L Bonnycastle, Heather A Boyd, Marcel Bruinenberg, Aron S Buchman, Harry Campbell, Yii-Der Ida Chen, Peter S Chines, Simone Claudi-Boehm, John Cole, Francis S Collins, Eco J C de Geus, Lisette C P G M de Groot, Maria Dimitriou, Jubao Duan, Stefan Enroth, Elodie Eury, Aliki-Eleni Farmaki, Nita G Forouhi, Nele Friedrich, Pablo V Gejman, Bruna Gigante, Nicola Glorioso, Alan S Go, Omri Gottesman, Jürgen Gräßler, Harald Grallert, Niels Grarup, Yu-Mei Gu, Linda Broer, Annelies C Ham, Torben Hansen, Tamara B Harris, Catharina A Hartman, Maija Hassinen, Nicholas Hastie, Andrew T Hattersley, Andrew C Heath, Anjali K Henders, Dena Hernandez, Hans Hillege, Oddgeir Holmen, Kees G Hovingh, Jennie Hui, Lise L Husemoen, Nina Hutri-Kähönen, Pirro G Hysi, Thomas Illig, Philip L De Jager, Shapour Jalilzadeh, Torben Jørgensen, J Wouter Jukema, Markus Juonala, Stavroula Kanoni, Maria Karaleftheri, Kay Tee Khaw, Leena Kinnunen, Steven J Kittner, Wolfgang Koenig, Ivana Kolcic, Peter Kovacs, Nikolaj T Krarup, Wolfgang Kratzer, Janine Krüger, Diana Kuh, Meena Kumari, Theodosios Kyriakou, Claudia Langenberg, Lars Lannfelt, Chiara Lanzani, Vaneet Lotay, Lenore J Launer, Karin Leander, Jaana Lindström, Allan Linneberg, Yan-Ping Liu, Stéphane Lobbens, Robert Luben, Valeriya Lyssenko, Satu Männistö, Patrik K Magnusson, Wendy L McArdle, Cristina Menni, Sigrun Merger, Lili Milani, Grant W Montgomery, Andrew P Morris, Narisu Narisu, Mari Nelis, Ken K Ong, Aarno Palotie, Louis Pérusse, Irene Pichler, Maria G Pilia, Anneli Pouta, Myriam Rheinberger, Rasmus Ribel-Madsen, Marcus Richards, Kenneth M Rice, Treva K Rice, Carlo Rivolta, Veikko Salomaa, Alan R Sanders, Mark A Sarzynski, Salome Scholtens, Robert A Scott, William R Scott, Sylvain Sebert, Sebanti Sengupta, Bengt Sennblad, Thomas Seufferlein, Angela Silveira, P Eline Slagboom, Jan H Smit, Thomas H Sparsø, Kathleen Stirrups, Ronald P Stolk, Heather M Stringham, Morris A Swertz, Amy J Swift, Ann-Christine Syvänen, Sian-Tsung Tan, Barbara Thorand, Anke Tönjes, Angelo Tremblay, Emmanouil Tsafantakis, Peter J van der Most, Uwe Völker, Marie-Claude Vohl, Judith M Vonk, Melanie Waldenberger, Ryan W Walker, Roman Wennauer, Elisabeth Widén, Gonneke Willemsen, Tom Wilsgaard, Alan F Wright, M Carola Zillikens, Suzanne C van Dijk, Natasja M van Schoor, Folkert W Asselbergs, Paul I W de Bakker, Jacques S Beckmann, John Beilby, David A Bennett, Richard N Bergman, Sven Bergmann, Carsten A Böger, Bernhard O Boehm, Eric Boerwinkle, Dorret I Boomsma, Stefan R Bornstein, Erwin P Bottinger, Claude Bouchard, John C Chambers, Stephen J Chanock, Daniel I Chasman, Francesco Cucca, Daniele Cusi, George Dedoussis, Jeanette Erdmann, Johan G Eriksson, Denis A Evans, Ulf de Faire, Martin Farrall, Luigi Ferrucci, Ian Ford, Lude Franke, Paul W Franks, Philippe Froguel, Ron T Gansevoort, Christian Gieger, Henrik Grönberg, Vilmundur Gudnason, Ulf Gyllensten, Per Hall, Anders Hamsten, Pim van der Harst, Caroline Hayward, Markku Heliövaara, Christian Hengstenberg, Andrew A Hicks, Aroon Hingorani, Albert Hofman, Frank Hu, Heikki V Huikuri, Kristian Hveem, Alan L James, Joanne M Jordan, Antti Jula, Mika Kähönen, Eero Kajantie, Sekar Kathiresan, Lambertus A L M Kiemeney, Mika Kivimaki, Paul B Knekt, Heikki A Koistinen, Jaspal S Kooner, Seppo Koskinen, Johanna Kuusisto, Winfried Maerz, Nicholas G Martin, Markku Laakso, Timo A Lakka, Terho Lehtimäki, Guillaume Lettre, Douglas F Levinson, Lars Lind, Marja-Liisa Lokki, Pekka Mäntyselkä, Mads Melbye, Andres Metspalu, Braxton D Mitchell, Frans L Moll, Jeffrey C Murray, Arthur W Musk, Markku S Nieminen, Inger Njølstad, Claes Ohlsson, Albertine J Oldehinkel, Ben A Oostra, Lyle J Palmer, James S Pankow, Gerard Pasterkamp, Nancy L Pedersen, Oluf Pedersen, Brenda W Penninx, Markus Perola, Annette Peters, Ozren Polašek, Peter P Pramstaller, Bruce M Psaty, Lu Qi, Thomas Quertermous, Olli T Raitakari, Tuomo Rankinen, Rainer Rauramaa, Paul M Ridker, John D Rioux, Fernando Rivadeneira, Jerome I Rotter, Igor Rudan, Hester M den Ruijter, Juha Saltevo, Naveed Sattar, Heribert Schunkert, Peter E H Schwarz, Alan R Shuldiner, Juha Sinisalo, Harold Snieder, Thorkild I A Sørensen, Tim D Spector, Jan A Staessen, Bandinelli Stefania, Unnur Thorsteinsdottir, Michael Stumvoll, Jean-Claude Tardif, Elena Tremoli, Jaakko Tuomilehto, André G Uitterlinden, Matti Uusitupa, André L M Verbeek, Sita H Vermeulen, Jorma S Viikari, Veronique Vitart, Henry Völzke, Peter Vollenweider, Gérard Waeber, Mark Walker, Henri Wallaschofski, Nicholas J Wareham, Hugh Watkins, Eleftheria Zeggini, Aravinda Chakravarti, Deborah J Clegg, L Adrienne Cupples, Penny Gordon-Larsen, Cashell E Jaquish, D C Rao, Goncalo R Abecasis, Themistocles L Assimes, Inês Barroso, Sonja I Berndt, Michael Boehnke, Panos Deloukas, Caroline S Fox, Leif C Groop, David J Hunter, Erik Ingelsson, Robert C Kaplan, Mark I McCarthy, Karen L Mohlke, Jeffrey R O'Connell, David Schlessinger, David P Strachan, Kari Stefansson, Cornelia M van Duijn, Joel N Hirschhorn, Cecilia M Lindgren, Iris M Heid, Kari E North, Ingrid B Borecki, Zoltán Kutalik, Ruth J F Loos
[This corrects the article DOI: 10.1371/journal.pgen.1005378.].
June 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27346689/large-scale-exome-wide-association-analysis-identifies-loci-for-white-blood-cell-traits-and-pleiotropy-with-immune-mediated-diseases
#18
Salman M Tajuddin, Ursula M Schick, John D Eicher, Nathalie Chami, Ayush Giri, Jennifer A Brody, W David Hill, Tim Kacprowski, Jin Li, Leo-Pekka Lyytikäinen, Ani Manichaikul, Evelin Mihailov, Michelle L O'Donoghue, Nathan Pankratz, Raha Pazoki, Linda M Polfus, Albert Vernon Smith, Claudia Schurmann, Caterina Vacchi-Suzzi, Dawn M Waterworth, Evangelos Evangelou, Lisa R Yanek, Amber Burt, Ming-Huei Chen, Frank J A van Rooij, James S Floyd, Andreas Greinacher, Tamara B Harris, Heather M Highland, Leslie A Lange, Yongmei Liu, Reedik Mägi, Mike A Nalls, Rasika A Mathias, Deborah A Nickerson, Kjell Nikus, John M Starr, Jean-Claude Tardif, Ioanna Tzoulaki, Digna R Velez Edwards, Lars Wallentin, Traci M Bartz, Lewis C Becker, Joshua C Denny, Laura M Raffield, John D Rioux, Nele Friedrich, Myriam Fornage, He Gao, Joel N Hirschhorn, David C M Liewald, Stephen S Rich, Andre Uitterlinden, Lisa Bastarache, Diane M Becker, Eric Boerwinkle, Simon de Denus, Erwin P Bottinger, Caroline Hayward, Albert Hofman, Georg Homuth, Ethan Lange, Lenore J Launer, Terho Lehtimäki, Yingchang Lu, Andres Metspalu, Chris J O'Donnell, Rakale C Quarells, Melissa Richard, Eric S Torstenson, Kent D Taylor, Anne-Claire Vergnaud, Alan B Zonderman, David R Crosslin, Ian J Deary, Marcus Dörr, Paul Elliott, Michele K Evans, Vilmundur Gudnason, Mika Kähönen, Bruce M Psaty, Jerome I Rotter, Andrew J Slater, Abbas Dehghan, Harvey D White, Santhi K Ganesh, Ruth J F Loos, Tõnu Esko, Nauder Faraday, James G Wilson, Mary Cushman, Andrew D Johnson, Todd L Edwards, Neil A Zakai, Guillaume Lettre, Alex P Reiner, Paul L Auer
White blood cells play diverse roles in innate and adaptive immunity. Genetic association analyses of phenotypic variation in circulating white blood cell (WBC) counts from large samples of otherwise healthy individuals can provide insights into genes and biologic pathways involved in production, differentiation, or clearance of particular WBC lineages (myeloid, lymphoid) and also potentially inform the genetic basis of autoimmune, allergic, and blood diseases. We performed an exome array-based meta-analysis of total WBC and subtype counts (neutrophils, monocytes, lymphocytes, basophils, and eosinophils) in a multi-ancestry discovery and replication sample of ∼157,622 individuals from 25 studies...
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27346686/platelet-related-variants-identified-by-exomechip-meta-analysis-in-157-293-individuals
#19
John D Eicher, Nathalie Chami, Tim Kacprowski, Akihiro Nomura, Ming-Huei Chen, Lisa R Yanek, Salman M Tajuddin, Ursula M Schick, Andrew J Slater, Nathan Pankratz, Linda Polfus, Claudia Schurmann, Ayush Giri, Jennifer A Brody, Leslie A Lange, Ani Manichaikul, W David Hill, Raha Pazoki, Paul Elliot, Evangelos Evangelou, Ioanna Tzoulaki, He Gao, Anne-Claire Vergnaud, Rasika A Mathias, Diane M Becker, Lewis C Becker, Amber Burt, David R Crosslin, Leo-Pekka Lyytikäinen, Kjell Nikus, Jussi Hernesniemi, Mika Kähönen, Emma Raitoharju, Nina Mononen, Olli T Raitakari, Terho Lehtimäki, Mary Cushman, Neil A Zakai, Deborah A Nickerson, Laura M Raffield, Rakale Quarells, Cristen J Willer, Gina M Peloso, Goncalo R Abecasis, Dajiang J Liu, Panos Deloukas, Nilesh J Samani, Heribert Schunkert, Jeanette Erdmann, Myriam Fornage, Melissa Richard, Jean-Claude Tardif, John D Rioux, Marie-Pierre Dube, Simon de Denus, Yingchang Lu, Erwin P Bottinger, Ruth J F Loos, Albert Vernon Smith, Tamara B Harris, Lenore J Launer, Vilmundur Gudnason, Digna R Velez Edwards, Eric S Torstenson, Yongmei Liu, Russell P Tracy, Jerome I Rotter, Stephen S Rich, Heather M Highland, Eric Boerwinkle, Jin Li, Ethan Lange, James G Wilson, Evelin Mihailov, Reedik Mägi, Joel Hirschhorn, Andres Metspalu, Tõnu Esko, Caterina Vacchi-Suzzi, Mike A Nalls, Alan B Zonderman, Michele K Evans, Gunnar Engström, Marju Orho-Melander, Olle Melander, Michelle L O'Donoghue, Dawn M Waterworth, Lars Wallentin, Harvey D White, James S Floyd, Traci M Bartz, Kenneth M Rice, Bruce M Psaty, J M Starr, David C M Liewald, Caroline Hayward, Ian J Deary, Andreas Greinacher, Uwe Völker, Thomas Thiele, Henry Völzke, Frank J A van Rooij, André G Uitterlinden, Oscar H Franco, Abbas Dehghan, Todd L Edwards, Santhi K Ganesh, Sekar Kathiresan, Nauder Faraday, Paul L Auer, Alex P Reiner, Guillaume Lettre, Andrew D Johnson
Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets' important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively...
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27346685/exome-genotyping-identifies-pleiotropic-variants-associated-with-red-blood-cell-traits
#20
Nathalie Chami, Ming-Huei Chen, Andrew J Slater, John D Eicher, Evangelos Evangelou, Salman M Tajuddin, Latisha Love-Gregory, Tim Kacprowski, Ursula M Schick, Akihiro Nomura, Ayush Giri, Samuel Lessard, Jennifer A Brody, Claudia Schurmann, Nathan Pankratz, Lisa R Yanek, Ani Manichaikul, Raha Pazoki, Evelin Mihailov, W David Hill, Laura M Raffield, Amber Burt, Traci M Bartz, Diane M Becker, Lewis C Becker, Eric Boerwinkle, Jette Bork-Jensen, Erwin P Bottinger, Michelle L O'Donoghue, David R Crosslin, Simon de Denus, Marie-Pierre Dubé, Paul Elliott, Gunnar Engström, Michele K Evans, James S Floyd, Myriam Fornage, He Gao, Andreas Greinacher, Vilmundur Gudnason, Torben Hansen, Tamara B Harris, Caroline Hayward, Jussi Hernesniemi, Heather M Highland, Joel N Hirschhorn, Albert Hofman, Marguerite R Irvin, Mika Kähönen, Ethan Lange, Lenore J Launer, Terho Lehtimäki, Jin Li, David C M Liewald, Allan Linneberg, Yongmei Liu, Yingchang Lu, Leo-Pekka Lyytikäinen, Reedik Mägi, Rasika A Mathias, Olle Melander, Andres Metspalu, Nina Mononen, Mike A Nalls, Deborah A Nickerson, Kjell Nikus, Chris J O'Donnell, Marju Orho-Melander, Oluf Pedersen, Astrid Petersmann, Linda Polfus, Bruce M Psaty, Olli T Raitakari, Emma Raitoharju, Melissa Richard, Kenneth M Rice, Fernando Rivadeneira, Jerome I Rotter, Frank Schmidt, Albert Vernon Smith, John M Starr, Kent D Taylor, Alexander Teumer, Betina H Thuesen, Eric S Torstenson, Russell P Tracy, Ioanna Tzoulaki, Neil A Zakai, Caterina Vacchi-Suzzi, Cornelia M van Duijn, Frank J A van Rooij, Mary Cushman, Ian J Deary, Digna R Velez Edwards, Anne-Claire Vergnaud, Lars Wallentin, Dawn M Waterworth, Harvey D White, James G Wilson, Alan B Zonderman, Sekar Kathiresan, Niels Grarup, Tõnu Esko, Ruth J F Loos, Leslie A Lange, Nauder Faraday, Nada A Abumrad, Todd L Edwards, Santhi K Ganesh, Paul L Auer, Andrew D Johnson, Alexander P Reiner, Guillaume Lettre
Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3...
July 7, 2016: American Journal of Human Genetics
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