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https://www.readbyqxmd.com/read/29030403/new-blood-pressure-associated-loci-identified-in-meta-analyses-of-475%C3%A2-000-individuals
#1
Aldi T Kraja, James P Cook, Helen R Warren, Praveen Surendran, Chunyu Liu, Evangelos Evangelou, Alisa K Manning, Niels Grarup, Fotios Drenos, Xueling Sim, Albert Vernon Smith, Najaf Amin, Alexandra I F Blakemore, Jette Bork-Jensen, Ivan Brandslund, Aliki-Eleni Farmaki, Cristiano Fava, Teresa Ferreira, Karl-Heinz Herzig, Ayush Giri, Franco Giulianini, Megan L Grove, Xiuqing Guo, Sarah E Harris, Christian T Have, Aki S Havulinna, He Zhang, Marit E Jørgensen, AnneMari Käräjämäki, Charles Kooperberg, Allan Linneberg, Louis Little, Yongmei Liu, Lori L Bonnycastle, Yingchang Lu, Reedik Mägi, Anubha Mahajan, Giovanni Malerba, Riccardo E Marioni, Hao Mei, Cristina Menni, Alanna C Morrison, Sandosh Padmanabhan, Walter Palmas, Alaitz Poveda, Rainer Rauramaa, Nigel William Rayner, Muhammad Riaz, Ken Rice, Melissa A Richard, Jennifer A Smith, Lorraine Southam, Alena Stančáková, Kathleen E Stirrups, Vinicius Tragante, Tiinamaija Tuomi, Ioanna Tzoulaki, Tibor V Varga, Stefan Weiss, Andrianos M Yiorkas, Robin Young, Weihua Zhang, Michael R Barnes, Claudia P Cabrera, He Gao, Michael Boehnke, Eric Boerwinkle, John C Chambers, John M Connell, Cramer K Christensen, Rudolf A de Boer, Ian J Deary, George Dedoussis, Panos Deloukas, Anna F Dominiczak, Marcus Dörr, Roby Joehanes, Todd L Edwards, Tõnu Esko, Myriam Fornage, Nora Franceschini, Paul W Franks, Giovanni Gambaro, Leif Groop, Göran Hallmans, Torben Hansen, Caroline Hayward, Oksa Heikki, Erik Ingelsson, Jaakko Tuomilehto, Marjo-Riitta Jarvelin, Sharon L R Kardia, Fredrik Karpe, Jaspal S Kooner, Timo A Lakka, Claudia Langenberg, Lars Lind, Ruth J F Loos, Markku Laakso, Mark I McCarthy, Olle Melander, Karen L Mohlke, Andrew P Morris, Colin N A Palmer, Oluf Pedersen, Ozren Polasek, Neil R Poulter, Michael A Province, Bruce M Psaty, Paul M Ridker, Jerome I Rotter, Igor Rudan, Veikko Salomaa, Nilesh J Samani, Peter J Sever, Tea Skaaby, Jeanette M Stafford, John M Starr, Pim van der Harst, Peter van der Meer, Cornelia M van Duijn, Anne-Claire Vergnaud, Vilmundur Gudnason, Nicholas J Wareham, James G Wilson, Cristen J Willer, Daniel R Witte, Eleftheria Zeggini, Danish Saleheen, Adam S Butterworth, John Danesh, Folkert W Asselbergs, Louise V Wain, Georg B Ehret, Daniel I Chasman, Mark J Caulfield, Paul Elliott, Cecilia M Lindgren, Daniel Levy, Christopher Newton-Cheh, Patricia B Munroe, Joanna M M Howson
BACKGROUND: Genome-wide association studies have recently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP from meta-analyses of exome chip genotype data. An additional 100 variants yielded suggestive evidence of association. METHODS AND RESULTS: Here, we augment the sample with 140 886 European individuals from the UK Biobank, in whom 77 of the 100 suggestive SNVs were available for association analysis with systolic BP or diastolic BP or pulse pressure...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28894970/timing-of-surgery-for-ruptured-supratentorial-arteriovenous-malformations
#2
Ahmad Hafez, Elias Oulasvirta, Päivi Koroknay-Pál, Mika Niemelä, Juha Hernesniemi, Aki Laakso
BACKGROUND: There are conflicting opinions regarding the optimal waiting time to perform surgery after rupture of supratentorial arteriovenous malformations (AVMs) to achieve the best possible outcome. OBJECTIVE: To analyze factors influencing outcomes for ruptured supratentorial AVMs after surgery, paying particular attention to the timing of the surgery. METHODS: We retrospectively investigated 59 patients admitted to our center between 2000 and 2014 for surgical treatment of ruptured supratentorial AVMs...
November 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28832619/correction-genome-wide-physical-activity-interactions-in-adiposity-a-meta-analysis-of-200-452-adults
#3
Mariaelisa Graff, Robert A Scott, Anne E Justice, Kristin L Young, Mary F Feitosa, Llilda Barata, Thomas W Winkler, Audrey Y Chu, Anubha Mahajan, David Hadley, Luting Xue, Tsegaselassie Workalemahu, Nancy L Heard-Costa, Marcel den Hoed, Tarunveer S Ahluwalia, Qibin Qi, Julius S Ngwa, Frida Renström, Lydia Quaye, John D Eicher, James E Hayes, Marilyn Cornelis, Zoltan Kutalik, Elise Lim, Jian'an Luan, Jennifer E Huffman, Weihua Zhang, Wei Zhao, Paula J Griffin, Toomas Haller, Shafqat Ahmad, Pedro M Marques-Vidal, Stephanie Bien, Loic Yengo, Alexander Teumer, Albert Vernon Smith, Meena Kumari, Marie Neergaard Harder, Johanne Marie Justesen, Marcus E Kleber, Mette Hollensted, Kurt Lohman, Natalia V Rivera, John B Whitfield, Jing Hua Zhao, Heather M Stringham, Leo-Pekka Lyytikäinen, Charlotte Huppertz, Gonneke Willemsen, Wouter J Peyrot, Ying Wu, Kati Kristiansson, Ayse Demirkan, Myriam Fornage, Maija Hassinen, Lawrence F Bielak, Gemma Cadby, Toshiko Tanaka, Reedik Mägi, Peter J van der Most, Anne U Jackson, Jennifer L Bragg-Gresham, Veronique Vitart, Jonathan Marten, Pau Navarro, Claire Bellis, Dorota Pasko, Åsa Johansson, Søren Snitker, Yu-Ching Cheng, Joel Eriksson, Unhee Lim, Mette Aadahl, Linda S Adair, Najaf Amin, Beverley Balkau, Juha Auvinen, John Beilby, Richard N Bergman, Sven Bergmann, Alain G Bertoni, John Blangero, Amélie Bonnefond, Lori L Bonnycastle, Judith B Borja, Søren Brage, Fabio Busonero, Steve Buyske, Harry Campbell, Peter S Chines, Francis S Collins, Tanguy Corre, George Davey Smith, Graciela E Delgado, Nicole Dueker, Marcus Dörr, Tapani Ebeling, Gudny Eiriksdottir, Tõnu Esko, Jessica D Faul, Mao Fu, Kristine Færch, Christian Gieger, Sven Gläser, Jian Gong, Penny Gordon-Larsen, Harald Grallert, Tanja B Grammer, Niels Grarup, Gerard van Grootheest, Kennet Harald, Nicholas D Hastie, Aki S Havulinna, Dena Hernandez, Lucia Hindorff, Lynne J Hocking, Oddgeir L Holmens, Christina Holzapfel, Jouke Jan Hottenga, Jie Huang, Tao Huang, Jennie Hui, Cornelia Huth, Nina Hutri-Kähönen, Alan L James, John-Olov Jansson, Min A Jhun, Markus Juonala, Leena Kinnunen, Heikki A Koistinen, Ivana Kolcic, Pirjo Komulainen, Johanna Kuusisto, Kirsti Kvaløy, Mika Kähönen, Timo A Lakka, Lenore J Launer, Benjamin Lehne, Cecilia M Lindgren, Mattias Lorentzon, Robert Luben, Michel Marre, Yuri Milaneschi, Keri L Monda, Grant W Montgomery, Marleen H M De Moor, Antonella Mulas, Martina Müller-Nurasyid, A W Musk, Reija Männikkö, Satu Männistö, Narisu Narisu, Matthias Nauck, Jennifer A Nettleton, Ilja M Nolte, Albertine J Oldehinkel, Matthias Olden, Ken K Ong, Sandosh Padmanabhan, Lavinia Paternoster, Jeremiah Perez, Markus Perola, Annette Peters, Ulrike Peters, Patricia A Peyser, Inga Prokopenko, Hannu Puolijoki, Olli T Raitakari, Tuomo Rankinen, Laura J Rasmussen-Torvik, Rajesh Rawal, Paul M Ridker, Lynda M Rose, Igor Rudan, Cinzia Sarti, Mark A Sarzynski, Kai Savonen, William R Scott, Serena Sanna, Alan R Shuldiner, Steve Sidney, Günther Silbernagel, Blair H Smith, Jennifer A Smith, Harold Snieder, Alena Stančáková, Barbara Sternfeld, Amy J Swift, Tuija Tammelin, Sian-Tsung Tan, Barbara Thorand, Dorothée Thuillier, Liesbeth Vandenput, Henrik Vestergaard, Jana V van Vliet-Ostaptchouk, Marie-Claude Vohl, Uwe Völker, Gérard Waeber, Mark Walker, Sarah Wild, Andrew Wong, Alan F Wright, M Carola Zillikens, Niha Zubair, Christopher A Haiman, Loic Lemarchand, Ulf Gyllensten, Claes Ohlsson, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Louis Pérusse, James F Wilson, Caroline Hayward, Ozren Polasek, Francesco Cucca, Kristian Hveem, Catharina A Hartman, Anke Tönjes, Stefania Bandinelli, Lyle J Palmer, Sharon L R Kardia, Rainer Rauramaa, Thorkild I A Sørensen, Jaakko Tuomilehto, Veikko Salomaa, Brenda W J H Penninx, Eco J C de Geus, Dorret I Boomsma, Terho Lehtimäki, Massimo Mangino, Markku Laakso, Claude Bouchard, Nicholas G Martin, Diana Kuh, Yongmei Liu, Allan Linneberg, Winfried März, Konstantin Strauch, Mika Kivimäki, Tamara B Harris, Vilmundur Gudnason, Henry Völzke, Lu Qi, Marjo-Riitta Järvelin, John C Chambers, Jaspal S Kooner, Philippe Froguel, Charles Kooperberg, Peter Vollenweider, Göran Hallmans, Torben Hansen, Oluf Pedersen, Andres Metspalu, Nicholas J Wareham, Claudia Langenberg, David R Weir, David J Porteous, Eric Boerwinkle, Daniel I Chasman, Gonçalo R Abecasis, Inês Barroso, Mark I McCarthy, Timothy M Frayling, Jeffrey R O'Connell, Cornelia M van Duijn, Michael Boehnke, Iris M Heid, Karen L Mohlke, David P Strachan, Caroline S Fox, Ching-Ti Liu, Joel N Hirschhorn, Robert J Klein, Andrew D Johnson, Ingrid B Borecki, Paul W Franks, Kari E North, L Adrienne Cupples, Ruth J F Loos, Tuomas O Kilpeläinen
[This corrects the article DOI: 10.1371/journal.pgen.1006528.].
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28456870/protocol-for-motor-and-language-mapping-by-navigated-tms-in-patients-and-healthy-volunteers-workshop-report
#4
REVIEW
Sandro M Krieg, Pantelis Lioumis, Jyrki P Mäkelä, Juha Wilenius, Jari Karhu, Henri Hannula, Petri Savolainen, Carolin Weiss Lucas, Kathleen Seidel, Aki Laakso, Mominul Islam, Selja Vaalto, Henri Lehtinen, Anne-Mari Vitikainen, Phiroz E Tarapore, Thomas Picht
INTRODUCTION: Navigated transcranial magnetic stimulation (nTMS) is increasingly used for preoperative mapping of motor function, and clinical evidence for its benefit for brain tumor patients is accumulating. In respect to language mapping with repetitive nTMS, literature reports have yielded variable results, and it is currently not routinely performed for presurgical language localization. The aim of this project is to define a common protocol for nTMS motor and language mapping to standardize its neurosurgical application and increase its clinical value...
July 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28448500/genome-wide-physical-activity-interactions-in-adiposity-a-meta-analysis-of-200-452-adults
#5
Mariaelisa Graff, Robert A Scott, Anne E Justice, Kristin L Young, Mary F Feitosa, Llilda Barata, Thomas W Winkler, Audrey Y Chu, Anubha Mahajan, David Hadley, Luting Xue, Tsegaselassie Workalemahu, Nancy L Heard-Costa, Marcel den Hoed, Tarunveer S Ahluwalia, Qibin Qi, Julius S Ngwa, Frida Renström, Lydia Quaye, John D Eicher, James E Hayes, Marilyn Cornelis, Zoltan Kutalik, Elise Lim, Jian'an Luan, Jennifer E Huffman, Weihua Zhang, Wei Zhao, Paula J Griffin, Toomas Haller, Shafqat Ahmad, Pedro M Marques-Vidal, Stephanie Bien, Loic Yengo, Alexander Teumer, Albert Vernon Smith, Meena Kumari, Marie Neergaard Harder, Johanne Marie Justesen, Marcus E Kleber, Mette Hollensted, Kurt Lohman, Natalia V Rivera, John B Whitfield, Jing Hua Zhao, Heather M Stringham, Leo-Pekka Lyytikäinen, Charlotte Huppertz, Gonneke Willemsen, Wouter J Peyrot, Ying Wu, Kati Kristiansson, Ayse Demirkan, Myriam Fornage, Maija Hassinen, Lawrence F Bielak, Gemma Cadby, Toshiko Tanaka, Reedik Mägi, Peter J van der Most, Anne U Jackson, Jennifer L Bragg-Gresham, Veronique Vitart, Jonathan Marten, Pau Navarro, Claire Bellis, Dorota Pasko, Åsa Johansson, Søren Snitker, Yu-Ching Cheng, Joel Eriksson, Unhee Lim, Mette Aadahl, Linda S Adair, Najaf Amin, Beverley Balkau, Juha Auvinen, John Beilby, Richard N Bergman, Sven Bergmann, Alain G Bertoni, John Blangero, Amélie Bonnefond, Lori L Bonnycastle, Judith B Borja, Søren Brage, Fabio Busonero, Steve Buyske, Harry Campbell, Peter S Chines, Francis S Collins, Tanguy Corre, George Davey Smith, Graciela E Delgado, Nicole Dueker, Marcus Dörr, Tapani Ebeling, Gudny Eiriksdottir, Tõnu Esko, Jessica D Faul, Mao Fu, Kristine Færch, Christian Gieger, Sven Gläser, Jian Gong, Penny Gordon-Larsen, Harald Grallert, Tanja B Grammer, Niels Grarup, Gerard van Grootheest, Kennet Harald, Nicholas D Hastie, Aki S Havulinna, Dena Hernandez, Lucia Hindorff, Lynne J Hocking, Oddgeir L Holmens, Christina Holzapfel, Jouke Jan Hottenga, Jie Huang, Tao Huang, Jennie Hui, Cornelia Huth, Nina Hutri-Kähönen, Alan L James, John-Olov Jansson, Min A Jhun, Markus Juonala, Leena Kinnunen, Heikki A Koistinen, Ivana Kolcic, Pirjo Komulainen, Johanna Kuusisto, Kirsti Kvaløy, Mika Kähönen, Timo A Lakka, Lenore J Launer, Benjamin Lehne, Cecilia M Lindgren, Mattias Lorentzon, Robert Luben, Michel Marre, Yuri Milaneschi, Keri L Monda, Grant W Montgomery, Marleen H M De Moor, Antonella Mulas, Martina Müller-Nurasyid, A W Musk, Reija Männikkö, Satu Männistö, Narisu Narisu, Matthias Nauck, Jennifer A Nettleton, Ilja M Nolte, Albertine J Oldehinkel, Matthias Olden, Ken K Ong, Sandosh Padmanabhan, Lavinia Paternoster, Jeremiah Perez, Markus Perola, Annette Peters, Ulrike Peters, Patricia A Peyser, Inga Prokopenko, Hannu Puolijoki, Olli T Raitakari, Tuomo Rankinen, Laura J Rasmussen-Torvik, Rajesh Rawal, Paul M Ridker, Lynda M Rose, Igor Rudan, Cinzia Sarti, Mark A Sarzynski, Kai Savonen, William R Scott, Serena Sanna, Alan R Shuldiner, Steve Sidney, Günther Silbernagel, Blair H Smith, Jennifer A Smith, Harold Snieder, Alena Stančáková, Barbara Sternfeld, Amy J Swift, Tuija Tammelin, Sian-Tsung Tan, Barbara Thorand, Dorothée Thuillier, Liesbeth Vandenput, Henrik Vestergaard, Jana V van Vliet-Ostaptchouk, Marie-Claude Vohl, Uwe Völker, Gérard Waeber, Mark Walker, Sarah Wild, Andrew Wong, Alan F Wright, M Carola Zillikens, Niha Zubair, Christopher A Haiman, Loic Lemarchand, Ulf Gyllensten, Claes Ohlsson, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Louis Pérusse, James F Wilson, Caroline Hayward, Ozren Polasek, Francesco Cucca, Kristian Hveem, Catharina A Hartman, Anke Tönjes, Stefania Bandinelli, Lyle J Palmer, Sharon L R Kardia, Rainer Rauramaa, Thorkild I A Sørensen, Jaakko Tuomilehto, Veikko Salomaa, Brenda W J H Penninx, Eco J C de Geus, Dorret I Boomsma, Terho Lehtimäki, Massimo Mangino, Markku Laakso, Claude Bouchard, Nicholas G Martin, Diana Kuh, Yongmei Liu, Allan Linneberg, Winfried März, Konstantin Strauch, Mika Kivimäki, Tamara B Harris, Vilmundur Gudnason, Henry Völzke, Lu Qi, Marjo-Riitta Järvelin, John C Chambers, Jaspal S Kooner, Philippe Froguel, Charles Kooperberg, Peter Vollenweider, Göran Hallmans, Torben Hansen, Oluf Pedersen, Andres Metspalu, Nicholas J Wareham, Claudia Langenberg, David R Weir, David J Porteous, Eric Boerwinkle, Daniel I Chasman, Gonçalo R Abecasis, Inês Barroso, Mark I McCarthy, Timothy M Frayling, Jeffrey R O'Connell, Cornelia M van Duijn, Michael Boehnke, Iris M Heid, Karen L Mohlke, David P Strachan, Caroline S Fox, Ching-Ti Liu, Joel N Hirschhorn, Robert J Klein, Andrew D Johnson, Ingrid B Borecki, Paul W Franks, Kari E North, L Adrienne Cupples, Ruth J F Loos, Tuomas O Kilpeläinen
Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28069038/motility-of-glioblastoma-cells-is-driven-by-netrin-1-induced-gain-of-stemness
#6
Irene Ylivinkka, Harri Sihto, Olli Tynninen, Yizhou Hu, Aki Laakso, Riku Kivisaari, Pirjo Laakkonen, Jorma Keski-Oja, Marko Hyytiäinen
BACKGROUND: Glioblastoma is an untreatable brain cancer. The tumors contain a population of stem-like cells which are highly invasive and resistant to therapies. These cells are the main reason for the lethality of glioblastoma. Extracellular guidance molecule netrin-1 promotes the invasiveness and survival of various cancer cell types. We have previously found that netrin-1 activates Notch signaling, and Notch signaling associates with cell stemness. Therefore, we have here investigated the effects of netrin-1 on glioblastoma pathogenesis and glioblastoma cell stemness...
January 9, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/27876822/a-principal-component-meta-analysis-on-multiple-anthropometric-traits-identifies-novel-loci-for-body-shape
#7
Janina S Ried, Janina Jeff M, Audrey Y Chu, Jennifer L Bragg-Gresham, Jenny van Dongen, Jennifer E Huffman, Tarunveer S Ahluwalia, Gemma Cadby, Niina Eklund, Joel Eriksson, Tõnu Esko, Mary F Feitosa, Anuj Goel, Mathias Gorski, Caroline Hayward, Nancy L Heard-Costa, Anne U Jackson, Eero Jokinen, Stavroula Kanoni, Kati Kristiansson, Zoltán Kutalik, Jari Lahti, Jian'an Luan, Reedik Mägi, Anubha Mahajan, Massimo Mangino, Carolina Medina-Gomez, Keri L Monda, Ilja M Nolte, Louis Pérusse, Inga Prokopenko, Lu Qi, Lynda M Rose, Erika Salvi, Megan T Smith, Harold Snieder, Alena Stančáková, Yun Ju Sung, Ioanna Tachmazidou, Alexander Teumer, Gudmar Thorleifsson, Pim van der Harst, Ryan W Walker, Sophie R Wang, Sarah H Wild, Sara M Willems, Andrew Wong, Weihua Zhang, Eva Albrecht, Alexessander Couto Alves, Stephan J L Bakker, Cristina Barlassina, Traci M Bartz, John Beilby, Claire Bellis, Richard N Bergman, Sven Bergmann, John Blangero, Matthias Blüher, Eric Boerwinkle, Lori L Bonnycastle, Stefan R Bornstein, Marcel Bruinenberg, Harry Campbell, Yii-Der Ida Chen, Charleston W K Chiang, Peter S Chines, Francis S Collins, Fracensco Cucca, L Adrienne Cupples, Francesca D'Avila, Eco J C de Geus, George Dedoussis, Maria Dimitriou, Angela Döring, Johan G Eriksson, Aliki-Eleni Farmaki, Martin Farrall, Teresa Ferreira, Krista Fischer, Nita G Forouhi, Nele Friedrich, Anette Prior Gjesing, Nicola Glorioso, Mariaelisa Graff, Harald Grallert, Niels Grarup, Jürgen Gräßler, Jagvir Grewal, Anders Hamsten, Marie Neergaard Harder, Catharina A Hartman, Maija Hassinen, Nicholas Hastie, Andrew Tym Hattersley, Aki S Havulinna, Markku Heliövaara, Hans Hillege, Albert Hofman, Oddgeir Holmen, Georg Homuth, Jouke-Jan Hottenga, Jennie Hui, Lise Lotte Husemoen, Pirro G Hysi, Aaron Isaacs, Till Ittermann, Shapour Jalilzadeh, Alan L James, Torben Jørgensen, Pekka Jousilahti, Antti Jula, Johanne Marie Justesen, Anne E Justice, Mika Kähönen, Maria Karaleftheri, Kay Tee Khaw, Sirkka M Keinanen-Kiukaanniemi, Leena Kinnunen, Paul B Knekt, Heikki A Koistinen, Ivana Kolcic, Ishminder K Kooner, Seppo Koskinen, Peter Kovacs, Theodosios Kyriakou, Tomi Laitinen, Claudia Langenberg, Alexandra M Lewin, Peter Lichtner, Cecilia M Lindgren, Jaana Lindström, Allan Linneberg, Roberto Lorbeer, Mattias Lorentzon, Robert Luben, Valeriya Lyssenko, Satu Männistö, Paolo Manunta, Irene Mateo Leach, Wendy L McArdle, Barbara Mcknight, Karen L Mohlke, Evelin Mihailov, Lili Milani, Rebecca Mills, May E Montasser, Andrew P Morris, Gabriele Müller, Arthur W Musk, Narisu Narisu, Ken K Ong, Ben A Oostra, Clive Osmond, Aarno Palotie, James S Pankow, Lavinia Paternoster, Brenda W Penninx, Irene Pichler, Maria G Pilia, Ozren Polašek, Peter P Pramstaller, Olli T Raitakari, Tuomo Rankinen, D C Rao, Nigel W Rayner, Rasmus Ribel-Madsen, Treva K Rice, Marcus Richards, Paul M Ridker, Fernando Rivadeneira, Kathy A Ryan, Serena Sanna, Mark A Sarzynski, Salome Scholtens, Robert A Scott, Sylvain Sebert, Lorraine Southam, Thomas Hempel Sparsø, Valgerdur Steinthorsdottir, Kathleen Stirrups, Ronald P Stolk, Konstantin Strauch, Heather M Stringham, Morris A Swertz, Amy J Swift, Anke Tönjes, Emmanouil Tsafantakis, Peter J van der Most, Jana V Van Vliet-Ostaptchouk, Liesbeth Vandenput, Erkki Vartiainen, Cristina Venturini, Niek Verweij, Jorma S Viikari, Veronique Vitart, Marie-Claude Vohl, Judith M Vonk, Gérard Waeber, Elisabeth Widén, Gonneke Willemsen, Tom Wilsgaard, Thomas W Winkler, Alan F Wright, Laura M Yerges-Armstrong, Jing Hua Zhao, M Carola Zillikens, Dorret I Boomsma, Claude Bouchard, John C Chambers, Daniel I Chasman, Daniele Cusi, Ron T Gansevoort, Christian Gieger, Torben Hansen, Andrew A Hicks, Frank Hu, Kristian Hveem, Marjo-Riitta Jarvelin, Eero Kajantie, Jaspal S Kooner, Diana Kuh, Johanna Kuusisto, Markku Laakso, Timo A Lakka, Terho Lehtimäki, Andres Metspalu, Inger Njølstad, Claes Ohlsson, Albertine J Oldehinkel, Lyle J Palmer, Oluf Pedersen, Markus Perola, Annette Peters, Bruce M Psaty, Hannu Puolijoki, Rainer Rauramaa, Igor Rudan, Veikko Salomaa, Peter E H Schwarz, Alan R Shudiner, Jan H Smit, Thorkild I A Sørensen, Timothy D Spector, Kari Stefansson, Michael Stumvoll, Angelo Tremblay, Jaakko Tuomilehto, André G Uitterlinden, Matti Uusitupa, Uwe Völker, Peter Vollenweider, Nicholas J Wareham, Hugh Watkins, James F Wilson, Eleftheria Zeggini, Goncalo R Abecasis, Michael Boehnke, Ingrid B Borecki, Panos Deloukas, Cornelia M van Duijn, Caroline Fox, Leif C Groop, Iris M Heid, David J Hunter, Robert C Kaplan, Mark I McCarthy, Kari E North, Jeffrey R O'Connell, David Schlessinger, Unnur Thorsteinsdottir, David P Strachan, Timothy Frayling, Joel N Hirschhorn, Martina Müller-Nurasyid, Ruth J F Loos
Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes...
November 23, 2016: Nature Communications
https://www.readbyqxmd.com/read/27618452/the-genetics-of-blood-pressure-regulation-and-its-target-organs-from-association-studies-in-342-415-individuals
#8
Georg B Ehret, Teresa Ferreira, Daniel I Chasman, Anne U Jackson, Ellen M Schmidt, Toby Johnson, Gudmar Thorleifsson, Jian'an Luan, Lousie A Donnelly, Stavroula Kanoni, Ann-Kristin Petersen, Vasyl Pihur, Rona J Strawbridge, Dmitry Shungin, Maria F Hughes, Osorio Meirelles, Marika Kaakinen, Nabila Bouatia-Naji, Kati Kristiansson, Sonia Shah, Marcus E Kleber, Xiuqing Guo, Leo-Pekka Lyytikäinen, Cristiano Fava, Niclas Eriksson, Ilja M Nolte, Patrik K Magnusson, Elias L Salfati, Loukianos S Rallidis, Elizabeth Theusch, Andrew J P Smith, Lasse Folkersen, Kate Witkowska, Tune H Pers, Roby Joehanes, Stuart K Kim, Lazaros Lataniotis, Rick Jansen, Andrew D Johnson, Helen Warren, Young Jin Kim, Wei Zhao, Ying Wu, Bamidele O Tayo, Murielle Bochud, Devin Absher, Linda S Adair, Najaf Amin, Dan E Arking, Tomas Axelsson, Damiano Baldassarre, Beverley Balkau, Stefania Bandinelli, Michael R Barnes, Inês Barroso, Stephen Bevan, Joshua C Bis, Gyda Bjornsdottir, Michael Boehnke, Eric Boerwinkle, Lori L Bonnycastle, Dorret I Boomsma, Stefan R Bornstein, Morris J Brown, Michel Burnier, Claudia P Cabrera, John C Chambers, I-Shou Chang, Ching-Yu Cheng, Peter S Chines, Ren-Hua Chung, Francis S Collins, John M Connell, Angela Döring, Jean Dallongeville, John Danesh, Ulf de Faire, Graciela Delgado, Anna F Dominiczak, Alex S F Doney, Fotios Drenos, Sarah Edkins, John D Eicher, Roberto Elosua, Stefan Enroth, Jeanette Erdmann, Per Eriksson, Tonu Esko, Evangelos Evangelou, Alun Evans, Tove Fall, Martin Farrall, Janine F Felix, Jean Ferrières, Luigi Ferrucci, Myriam Fornage, Terrence Forrester, Nora Franceschini, Oscar H Franco Duran, Anders Franco-Cereceda, Ross M Fraser, Santhi K Ganesh, He Gao, Karl Gertow, Francesco Gianfagna, Bruna Gigante, Franco Giulianini, Anuj Goel, Alison H Goodall, Mark O Goodarzi, Mathias Gorski, Jürgen Gräßler, Christopher Groves, Vilmundur Gudnason, Ulf Gyllensten, Göran Hallmans, Anna-Liisa Hartikainen, Maija Hassinen, Aki S Havulinna, Caroline Hayward, Serge Hercberg, Karl-Heinz Herzig, Andrew A Hicks, Aroon D Hingorani, Joel N Hirschhorn, Albert Hofman, Jostein Holmen, Oddgeir Lingaas Holmen, Jouke-Jan Hottenga, Phil Howard, Chao A Hsiung, Steven C Hunt, M Arfan Ikram, Thomas Illig, Carlos Iribarren, Richard A Jensen, Mika Kähönen, Hyun Kang, Sekar Kathiresan, Brendan J Keating, Kay-Tee Khaw, Yun Kyoung Kim, Eric Kim, Mika Kivimaki, Norman Klopp, Genovefa Kolovou, Pirjo Komulainen, Jaspal S Kooner, Gulum Kosova, Ronald M Krauss, Diana Kuh, Zoltan Kutalik, Johanna Kuusisto, Kirsti Kvaløy, Timo A Lakka, Nanette R Lee, I-Te Lee, Wen-Jane Lee, Daniel Levy, Xiaohui Li, Kae-Woei Liang, Honghuang Lin, Li Lin, Jaana Lindström, Stéphane Lobbens, Satu Männistö, Gabriele Müller, Martina Müller-Nurasyid, François Mach, Hugh S Markus, Eirini Marouli, Mark I McCarthy, Colin A McKenzie, Pierre Meneton, Cristina Menni, Andres Metspalu, Vladan Mijatovic, Leena Moilanen, May E Montasser, Andrew D Morris, Alanna C Morrison, Antonella Mulas, Ramaiah Nagaraja, Narisu Narisu, Kjell Nikus, Christopher J O'Donnell, Paul F O'Reilly, Ken K Ong, Fred Paccaud, Cameron D Palmer, Afshin Parsa, Nancy L Pedersen, Brenda W Penninx, Markus Perola, Annette Peters, Neil Poulter, Peter P Pramstaller, Bruce M Psaty, Thomas Quertermous, Dabeeru C Rao, Asif Rasheed, N William N W R Rayner, Frida Renström, Rainer Rettig, Kenneth M Rice, Robert Roberts, Lynda M Rose, Jacques Rossouw, Nilesh J Samani, Serena Sanna, Jouko Saramies, Heribert Schunkert, Sylvain Sebert, Wayne H-H Sheu, Young-Ah Shin, Xueling Sim, Johannes H Smit, Albert V Smith, Maria X Sosa, Tim D Spector, Alena Stančáková, Alice Stanton, Kathleen E Stirrups, Heather M Stringham, Johan Sundstrom, Amy J Swift, Ann-Christine Syvänen, E-Shyong Tai, Toshiko Tanaka, Kirill V Tarasov, Alexander Teumer, Unnur Thorsteinsdottir, Martin D Tobin, Elena Tremoli, Andre G Uitterlinden, Matti Uusitupa, Ahmad Vaez, Dhananjay Vaidya, Cornelia M van Duijn, Erik P A van Iperen, Ramachandran S Vasan, Germaine C Verwoert, Jarmo Virtamo, Veronique Vitart, Benjamin F Voight, Peter Vollenweider, Aline Wagner, Louise V Wain, Nicholas J Wareham, Hugh Watkins, Alan B Weder, Harm-Jan Westra, Rainford Wilks, Tom Wilsgaard, James F Wilson, Tien Y Wong, Tsun-Po Yang, Jie Yao, Loic Yengo, Weihua Zhang, Jing Hua Zhao, Xiaofeng Zhu, Pascal Bovet, Richard S Cooper, Karen L Mohlke, Danish Saleheen, Jong-Young Lee, Paul Elliott, Hinco J Gierman, Cristen J Willer, Lude Franke, G Kees Hovingh, Kent D Taylor, George Dedoussis, Peter Sever, Andrew Wong, Lars Lind, Themistocles L Assimes, Inger Njølstad, Peter Eh Schwarz, Claudia Langenberg, Harold Snieder, Mark J Caulfield, Olle Melander, Markku Laakso, Juha Saltevo, Rainer Rauramaa, Jaakko Tuomilehto, Erik Ingelsson, Terho Lehtimäki, Kristian Hveem, Walter Palmas, Winfried März, Meena Kumari, Veikko Salomaa, Yii-Der I Chen, Jerome I Rotter, Philippe Froguel, Marjo-Riitta Jarvelin, Edward G Lakatta, Kari Kuulasmaa, Paul W Franks, Anders Hamsten, H-Erich Wichmann, Colin N A Palmer, Kari Stefansson, Paul M Ridker, Ruth J F Loos, Aravinda Chakravarti, Panos Deloukas, Andrew P Morris, Christopher Newton-Cheh, Patricia B Munroe
To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues...
October 2016: Nature Genetics
https://www.readbyqxmd.com/read/27618447/trans-ancestry-meta-analyses-identify-rare-and-common-variants-associated-with-blood-pressure-and-hypertension
#9
Praveen Surendran, Fotios Drenos, Robin Young, Helen Warren, James P Cook, Alisa K Manning, Niels Grarup, Xueling Sim, Daniel R Barnes, Kate Witkowska, James R Staley, Vinicius Tragante, Taru Tukiainen, Hanieh Yaghootkar, Nicholas Masca, Daniel F Freitag, Teresa Ferreira, Olga Giannakopoulou, Andrew Tinker, Magdalena Harakalova, Evelin Mihailov, Chunyu Liu, Aldi T Kraja, Sune Fallgaard Nielsen, Asif Rasheed, Maria Samuel, Wei Zhao, Lori L Bonnycastle, Anne U Jackson, Narisu Narisu, Amy J Swift, Lorraine Southam, Jonathan Marten, Jeroen R Huyghe, Alena Stančáková, Cristiano Fava, Therese Ohlsson, Angela Matchan, Kathleen E Stirrups, Jette Bork-Jensen, Anette P Gjesing, Jukka Kontto, Markus Perola, Susan Shaw-Hawkins, Aki S Havulinna, He Zhang, Louise A Donnelly, Christopher J Groves, N William Rayner, Matt J Neville, Neil R Robertson, Andrianos M Yiorkas, Karl-Heinz Herzig, Eero Kajantie, Weihua Zhang, Sara M Willems, Lars Lannfelt, Giovanni Malerba, Nicole Soranzo, Elisabetta Trabetti, Niek Verweij, Evangelos Evangelou, Alireza Moayyeri, Anne-Claire Vergnaud, Christopher P Nelson, Alaitz Poveda, Tibor V Varga, Muriel Caslake, Anton Jm de Craen, Stella Trompet, Jian'an Luan, Robert A Scott, Sarah E Harris, David Cm Liewald, Riccardo Marioni, Cristina Menni, Aliki-Eleni Farmaki, Göran Hallmans, Frida Renström, Jennifer E Huffman, Maija Hassinen, Stephen Burgess, Ramachandran S Vasan, Janine F Felix, Maria Uria-Nickelsen, Anders Malarstig, Dermot F Reily, Maarten Hoek, Thomas Vogt, Honghuang Lin, Wolfgang Lieb, Matthew Traylor, Hugh F Markus, Heather M Highland, Anne E Justice, Eirini Marouli, Jaana Lindström, Matti Uusitupa, Pirjo Komulainen, Timo A Lakka, Rainer Rauramaa, Ozren Polasek, Igor Rudan, Olov Rolandsson, Paul W Franks, George Dedoussis, Timothy D Spector, Pekka Jousilahti, Satu Männistö, Ian J Deary, John M Starr, Claudia Langenberg, Nick J Wareham, Morris J Brown, Anna F Dominiczak, John M Connell, J Wouter Jukema, Naveed Sattar, Ian Ford, Chris J Packard, Tõnu Esko, Reedik Mägi, Andres Metspalu, Rudolf A de Boer, Peter van der Meer, Pim van der Harst, Giovanni Gambaro, Erik Ingelsson, Lars Lind, Paul Iw de Bakker, Mattijs E Numans, Ivan Brandslund, Cramer Christensen, Eva Rb Petersen, Eeva Korpi-Hyövälti, Heikki Oksa, John C Chambers, Jaspal S Kooner, Alexandra If Blakemore, Steve Franks, Marjo-Riitta Jarvelin, Lise L Husemoen, Allan Linneberg, Tea Skaaby, Betina Thuesen, Fredrik Karpe, Jaakko Tuomilehto, Alex Sf Doney, Andrew D Morris, Colin Na Palmer, Oddgeir Lingaas Holmen, Kristian Hveem, Cristen J Willer, Tiinamaija Tuomi, Leif Groop, AnneMari Käräjämäki, Aarno Palotie, Samuli Ripatti, Veikko Salomaa, Dewan S Alam, Abdulla Al Shafi Majumder, Emanuele Di Angelantonio, Rajiv Chowdhury, Mark I McCarthy, Neil Poulter, Alice V Stanton, Peter Sever, Philippe Amouyel, Dominique Arveiler, Stefan Blankenberg, Jean Ferrières, Frank Kee, Kari Kuulasmaa, Martina Müller-Nurasyid, Giovanni Veronesi, Jarmo Virtamo, Panos Deloukas, Paul Elliott, Eleftheria Zeggini, Sekar Kathiresan, Olle Melander, Johanna Kuusisto, Markku Laakso, Sandosh Padmanabhan, David Porteous, Caroline Hayward, Generation Scotland, Francis S Collins, Karen L Mohlke, Torben Hansen, Oluf Pedersen, Michael Boehnke, Heather M Stringham, Philippe Frossard, Christopher Newton-Cheh, Martin D Tobin, Børge Grønne Nordestgaard, Mark J Caulfield, Anubha Mahajan, Andrew P Morris, Maciej Tomaszewski, Nilesh J Samani, Danish Saleheen, Folkert W Asselbergs, Cecilia M Lindgren, John Danesh, Louise V Wain, Adam S Butterworth, Joanna Mm Howson, Patricia B Munroe
High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used ∼155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1...
October 2016: Nature Genetics
https://www.readbyqxmd.com/read/27418160/shared-genetic-risk-factors-of-intracranial-abdominal-and-thoracic-aneurysms
#10
Femke N G van 't Hof, Ynte M Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F Baas, Jan D Blankensteijn, Erwin P Böttinger, Matthew J Bown, Joseph Broderick, Philippe Bijlenga, David S Carrell, Dana C Crawford, David R Crosslin, Christian Ebeling, Johan G Eriksson, Myriam Fornage, Tatiana Foroud, Mikael von Und Zu Fraunberg, Christoph M Friedrich, Emília I Gaál, Omri Gottesman, Dong-Chuan Guo, Seamus C Harrison, Juha Hernesniemi, Albert Hofman, Ituro Inoue, Juha E Jääskeläinen, Gregory T Jones, Lambertus A L M Kiemeney, Riku Kivisaari, Nerissa Ko, Seppo Koskinen, Michiaki Kubo, Iftikhar J Kullo, Helena Kuivaniemi, Mitja I Kurki, Aki Laakso, Dongbing Lai, Suzanne M Leal, Hanna Lehto, Scott A LeMaire, Siew-Kee Low, Jennifer Malinowski, Catherine A McCarty, Dianna M Milewicz, Thomas H Mosley, Yusuke Nakamura, Hirofumi Nakaoka, Mika Niemelä, Jennifer Pacheco, Peggy L Peissig, Joanna Pera, Laura Rasmussen-Torvik, Marylyn D Ritchie, Fernando Rivadeneira, Andre M van Rij, Regie Lyn P Santos-Cortez, Athanasios Saratzis, Agnieszka Slowik, Atsushi Takahashi, Gerard Tromp, André G Uitterlinden, Shefali S Verma, Sita H Vermeulen, Gao T Wang, Buhm Han, Gabriël J E Rinkel, Paul I W de Bakker
BACKGROUND: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. METHODS AND RESULTS: We performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts...
July 14, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/26833246/new-loci-for-body-fat-percentage-reveal-link-between-adiposity-and-cardiometabolic-disease-risk
#11
Yingchang Lu, Felix R Day, Stefan Gustafsson, Martin L Buchkovich, Jianbo Na, Veronique Bataille, Diana L Cousminer, Zari Dastani, Alexander W Drong, Tõnu Esko, David M Evans, Mario Falchi, Mary F Feitosa, Teresa Ferreira, Åsa K Hedman, Robin Haring, Pirro G Hysi, Mark M Iles, Anne E Justice, Stavroula Kanoni, Vasiliki Lagou, Rui Li, Xin Li, Adam Locke, Chen Lu, Reedik Mägi, John R B Perry, Tune H Pers, Qibin Qi, Marianna Sanna, Ellen M Schmidt, William R Scott, Dmitry Shungin, Alexander Teumer, Anna A E Vinkhuyzen, Ryan W Walker, Harm-Jan Westra, Mingfeng Zhang, Weihua Zhang, Jing Hua Zhao, Zhihong Zhu, Uzma Afzal, Tarunveer Singh Ahluwalia, Stephan J L Bakker, Claire Bellis, Amélie Bonnefond, Katja Borodulin, Aron S Buchman, Tommy Cederholm, Audrey C Choh, Hyung Jin Choi, Joanne E Curran, Lisette C P G M de Groot, Philip L De Jager, Rosalie A M Dhonukshe-Rutten, Anke W Enneman, Elodie Eury, Daniel S Evans, Tom Forsen, Nele Friedrich, Frédéric Fumeron, Melissa E Garcia, Simone Gärtner, Bok-Ghee Han, Aki S Havulinna, Caroline Hayward, Dena Hernandez, Hans Hillege, Till Ittermann, Jack W Kent, Ivana Kolcic, Tiina Laatikainen, Jari Lahti, Irene Mateo Leach, Christine G Lee, Jong-Young Lee, Tian Liu, Youfang Liu, Stéphane Lobbens, Marie Loh, Leo-Pekka Lyytikäinen, Carolina Medina-Gomez, Karl Michaëlsson, Mike A Nalls, Carrie M Nielson, Laticia Oozageer, Laura Pascoe, Lavinia Paternoster, Ozren Polašek, Samuli Ripatti, Mark A Sarzynski, Chan Soo Shin, Nina Smolej Narančić, Dominik Spira, Priya Srikanth, Elisabeth Steinhagen-Thiessen, Yun Ju Sung, Karin M A Swart, Leena Taittonen, Toshiko Tanaka, Emmi Tikkanen, Nathalie van der Velde, Natasja M van Schoor, Niek Verweij, Alan F Wright, Lei Yu, Joseph M Zmuda, Niina Eklund, Terrence Forrester, Niels Grarup, Anne U Jackson, Kati Kristiansson, Teemu Kuulasmaa, Johanna Kuusisto, Peter Lichtner, Jian'an Luan, Anubha Mahajan, Satu Männistö, Cameron D Palmer, Janina S Ried, Robert A Scott, Alena Stancáková, Peter J Wagner, Ayse Demirkan, Angela Döring, Vilmundur Gudnason, Douglas P Kiel, Brigitte Kühnel, Massimo Mangino, Barbara Mcknight, Cristina Menni, Jeffrey R O'Connell, Ben A Oostra, Alan R Shuldiner, Kijoung Song, Liesbeth Vandenput, Cornelia M van Duijn, Peter Vollenweider, Charles C White, Michael Boehnke, Yvonne Boettcher, Richard S Cooper, Nita G Forouhi, Christian Gieger, Harald Grallert, Aroon Hingorani, Torben Jørgensen, Pekka Jousilahti, Mika Kivimaki, Meena Kumari, Markku Laakso, Claudia Langenberg, Allan Linneberg, Amy Luke, Colin A Mckenzie, Aarno Palotie, Oluf Pedersen, Annette Peters, Konstantin Strauch, Bamidele O Tayo, Nicholas J Wareham, David A Bennett, Lars Bertram, John Blangero, Matthias Blüher, Claude Bouchard, Harry Campbell, Nam H Cho, Steven R Cummings, Stefan A Czerwinski, Ilja Demuth, Rahel Eckardt, Johan G Eriksson, Luigi Ferrucci, Oscar H Franco, Philippe Froguel, Ron T Gansevoort, Torben Hansen, Tamara B Harris, Nicholas Hastie, Markku Heliövaara, Albert Hofman, Joanne M Jordan, Antti Jula, Mika Kähönen, Eero Kajantie, Paul B Knekt, Seppo Koskinen, Peter Kovacs, Terho Lehtimäki, Lars Lind, Yongmei Liu, Eric S Orwoll, Clive Osmond, Markus Perola, Louis Pérusse, Olli T Raitakari, Tuomo Rankinen, D C Rao, Treva K Rice, Fernando Rivadeneira, Igor Rudan, Veikko Salomaa, Thorkild I A Sørensen, Michael Stumvoll, Anke Tönjes, Bradford Towne, Gregory J Tranah, Angelo Tremblay, André G Uitterlinden, Pim van der Harst, Erkki Vartiainen, Jorma S Viikari, Veronique Vitart, Marie-Claude Vohl, Henry Völzke, Mark Walker, Henri Wallaschofski, Sarah Wild, James F Wilson, Loïc Yengo, D Timothy Bishop, Ingrid B Borecki, John C Chambers, L Adrienne Cupples, Abbas Dehghan, Panos Deloukas, Ghazaleh Fatemifar, Caroline Fox, Terrence S Furey, Lude Franke, Jiali Han, David J Hunter, Juha Karjalainen, Fredrik Karpe, Robert C Kaplan, Jaspal S Kooner, Mark I McCarthy, Joanne M Murabito, Andrew P Morris, Julia A N Bishop, Kari E North, Claes Ohlsson, Ken K Ong, Inga Prokopenko, J Brent Richards, Eric E Schadt, Tim D Spector, Elisabeth Widén, Cristen J Willer, Jian Yang, Erik Ingelsson, Karen L Mohlke, Joel N Hirschhorn, John Andrew Pospisilik, M Carola Zillikens, Cecilia Lindgren, Tuomas Oskari Kilpeläinen, Ruth J F Loos
To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 × 10(-8)), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass...
February 1, 2016: Nature Communications
https://www.readbyqxmd.com/read/25828051/intracranial-vertebral-artery-aneurysms-clinical-features-and-outcome-of-190-patients
#12
Hanna Lehto, Mika Niemelä, Riku Kivisaari, Aki Laakso, Behnam Rezai Jahromi, Ferzat Hijazy, Hugo Andrade-Barazarte, Reza Dashti, Juha Hernesniemi
BACKGROUND: Vertebral artery (VA) aneurysms comprise approximately one-third of posterior circulation aneurysms. They are morphologically variable, and located critically close to the cranial nerves and the brainstem. We aim to represent the characteristics of these aneurysms and their treatment, and to analyze the outcome. METHODS: We reviewed retrospectively 9709 patients with intracranial aneurysms. Of these, we included 190 with aneurysms at the VA or VA-posterior inferior cerebellar artery junction...
August 2015: World Neurosurgery
https://www.readbyqxmd.com/read/25685803/intracranial-biodegradable-silica-based-nimodipine-drug-release-implant-for-treating-vasospasm-in-subarachnoid-hemorrhage-in-an-experimental-healthy-pig-and-dog-model
#13
Janne Koskimäki, Miikka Tarkia, Tuula Ahtola-Sätilä, Lasse Saloranta, Outi Simola, Ari-Pekka Forsback, Aki Laakso, Janek Frantzén
Nimodipine is a widely used medication for treating delayed cerebral ischemia (DCI) after subarachnoid hemorrhage. When administrated orally or intravenously, systemic hypotension is an undesirable side effect. Intracranial subarachnoid delivery of nimodipine during aneurysm clipping may be more efficient way of preventing vasospasm and DCI due to higher concentration of nimodipine in cerebrospinal fluid (CSF). The risk of systemic hypotension may also be decreased with intracranial delivery. We used animal models to evaluate the feasibility of surgically implanting a silica-based nimodipine releasing implant into the subarachnoid space through a frontotemporal craniotomy...
2015: BioMed Research International
https://www.readbyqxmd.com/read/25652785/absorption-elimination-and-cerebrospinal-fluid-concentrations-of-nimodipine-in-healthy-beagle-dogs-receiving-human-intravenous-and-oral-formulation
#14
Janne Koskimäki, Miikka Tarkia, Tuula Ahtola-Sätilä, Lasse Saloranta, Aki Laakso, Janek Frantzén
Nimodipine is an L-type calcium channel blocker and is used to treat vasospasm in patients with subarachnoid hemorrhage. Its putative mechanism of action is relaxation of smooth muscle cells in cerebral arteries. In addition, nimodipine may have pleiotropic effects against vasospasm. Systemic hypotension is an adverse effect when patients are treated with oral or intravenous nimodipine. Intracranial administration of nimodipine formulations may produce higher concentration of nimodipine in the cerebrospinal fluid (CSF) than is possible to achieve orally or intravenously, while resulting in lower incidence of systemic hypotension...
June 2016: European Journal of Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/25617092/integrating-ntms-data-into-a-radiology-picture-archiving-system
#15
Teemu Mäkelä, Anne-Mari Vitikainen, Aki Laakso, Jyrki P Mäkelä
Navigated transcranial magnetic stimulation (nTMS) is employed in eloquent brain area localization prior to intraoperative direct cortical electrical stimulations and neurosurgery. No commercial archiving or file transfer protocol existed for these studies. The aim of our project was to establish a standardized protocol for the transfer of nTMS results and medical assessments to the end users in pursuance of improving data security and facilitating presurgical planning. The existing infrastructure of the hospital's Radiology Department was used...
August 2015: Journal of Digital Imaging: the Official Journal of the Society for Computer Applications in Radiology
https://www.readbyqxmd.com/read/25527884/neuro-ophthalmic-presentation-and-surgical-results-of-unruptured-intracranial-aneurysms%C3%A2-prospective-helsinki-experience-of-142-patients
#16
Elina Koskela, Kirsi Setälä, Riku Kivisaari, Juha Hernesniemi, Aki Laakso
OBJECTIVE: To assess prospectively neuro-ophthalmic findings associated with unruptured intracranial aneurysms and treatment morbidity and to identify factors predicting these findings. METHODS: Patients admitted to Helsinki University Central Hospital and treated surgically or endovascularly during 2011 underwent a neuro-ophthalmic examination, including formal visual field testing, before operation, at discharge, and 2-4 months and ≥6 months postoperatively...
April 2015: World Neurosurgery
https://www.readbyqxmd.com/read/25256182/genome-wide-association-study-of-intracranial-aneurysm-identifies-a-new-association-on-chromosome-7
#17
Tatiana Foroud, Dongbing Lai, Daniel Koller, Femke Van't Hof, Mitja I Kurki, Craig S Anderson, Robert D Brown, Edward Sander Connolly, Johan G Eriksson, Matthew Flaherty, Myriam Fornage, Mikael von Und Zu Fraunberg, Emília I Gaál, Aki Laakso, Juha Hernesniemi, John Huston, Juha E Jääskeläinen, Lambertus A Kiemeney, Riku Kivisaari, Dawn Kleindorfer, Nerissa Ko, Hanna Lehto, Jason Mackey, Irene Meissner, Charles J Moomaw, Thomas H Mosley, Marek Moskala, Mika Niemelä, Aarno Palotie, Joanna Pera, Gabriel Rinkel, Stephan Ripke, Guy Rouleau, Ynte Ruigrok, Laura Sauerbeck, Agnieszka Słowik, Sita H Vermeulen, Daniel Woo, Bradford B Worrall, Joseph Broderick
BACKGROUND AND PURPOSE: Common variants have been identified using genome-wide association studies which contribute to intracranial aneurysms (IA) susceptibility. However, it is clear that the variants identified to date do not account for the estimated genetic contribution to disease risk. METHODS: Initial analysis was performed in a discovery sample of 2617 IA cases and 2548 controls of white ancestry. Novel chromosomal regions meeting genome-wide significance were further tested for association in 2 independent replication samples: Dutch (717 cases; 3004 controls) and Finnish (799 cases; 2317 controls)...
November 2014: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/25078778/distribution-and-medical-impact-of-loss-of-function-variants-in-the-finnish-founder-population
#18
Elaine T Lim, Peter Würtz, Aki S Havulinna, Priit Palta, Taru Tukiainen, Karola Rehnström, Tõnu Esko, Reedik Mägi, Michael Inouye, Tuuli Lappalainen, Yingleong Chan, Rany M Salem, Monkol Lek, Jason Flannick, Xueling Sim, Alisa Manning, Claes Ladenvall, Suzannah Bumpstead, Eija Hämäläinen, Kristiina Aalto, Mikael Maksimow, Marko Salmi, Stefan Blankenberg, Diego Ardissino, Svati Shah, Benjamin Horne, Ruth McPherson, Gerald K Hovingh, Muredach P Reilly, Hugh Watkins, Anuj Goel, Martin Farrall, Domenico Girelli, Alex P Reiner, Nathan O Stitziel, Sekar Kathiresan, Stacey Gabriel, Jeffrey C Barrett, Terho Lehtimäki, Markku Laakso, Leif Groop, Jaakko Kaprio, Markus Perola, Mark I McCarthy, Michael Boehnke, David M Altshuler, Cecilia M Lindgren, Joel N Hirschhorn, Andres Metspalu, Nelson B Freimer, Tanja Zeller, Sirpa Jalkanen, Seppo Koskinen, Olli Raitakari, Richard Durbin, Daniel G MacArthur, Veikko Salomaa, Samuli Ripatti, Mark J Daly, Aarno Palotie
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious variants that are present at higher frequencies as well as a substantial reduction in rare neutral variation. To explore the potential of the Finnish founder population for studying low-frequency (0...
July 2014: PLoS Genetics
https://www.readbyqxmd.com/read/24937594/distal-posterior-inferior-cerebellar-artery-aneurysms-clinical-features-and-outcome-of-80-patients
#19
Hanna Lehto, Ali Harati, Mika Niemelä, Reza Dashti, Aki Laakso, Ahmed Elsharkawy, Jarno Satopää, Romain Billon-Grand, Bruno Canato, Riku Kivisaari, Juha Hernesniemi
OBJECTIVE: Aneurysms of the posterior inferior cerebellar artery (PICA) distal to its origin are rare. Beside their rarity, their treatment is challenged by a high proportion of fusiform aneurysms, torturous course of PICA, and often severe bleeding. Our aim is to represent the characteristics of these aneurysms and their treatment, as well as to analyze outcome. METHODS: We reviewed retrospectively 80 patients with PICA aneurysms who were treated at the Department of Neurosurgery, Helsinki, Finland...
November 2014: World Neurosurgery
https://www.readbyqxmd.com/read/24879094/genetic-risk-load-according-to-the-site-of-intracranial-aneurysms
#20
Femke N G van 't Hof, Mitja I Kurki, Rachel Kleinloog, Paul I W de Bakker, Mikael von und zu Fraunberg, Juha E Jääskeläinen, Emília I Gaál, Hanna Lehto, Riku Kivisaari, Aki Laakso, Mika Niemelä, Juha Hernesniemi, Matthijs C Brouwer, Diederik van de Beek, Gabriël J E Rinkel, Ynte M Ruigrok
OBJECTIVE: We investigated whether risk alleles of single nucleotide polymorphisms associated with intracranial aneurysm (IA) are enriched in patients with familial IA, IA located at the middle cerebral artery (MCA), or IA rupture at a younger age. METHODS: In this case-only study, we calculated genetic risk scores (GRS) for 973 Dutch and 718 Finnish patients with IA by summing effect size-weighted risk allele counts of 7 single nucleotide polymorphisms associated with IAs previously identified through genome-wide association studies...
July 1, 2014: Neurology
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