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https://www.readbyqxmd.com/read/27876822/a-principal-component-meta-analysis-on-multiple-anthropometric-traits-identifies-novel-loci-for-body-shape
#1
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
#2
Georg B Ehret, Teresa Ferreira, Daniel I Chasman, Anne U Jackson, Ellen M Schmidt, Toby Johnson, Gudmar Thorleifsson, Jian'an Luan, Louise 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, 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 J 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 Min 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 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 V 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 E H 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
#3
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 J M de Craen, Stella Trompet, Jian'an Luan, Robert A Scott, Sarah E Harris, David C M 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 Reilly, Maarten Hoek, Thomas F Vogt, Honghuang Lin, Wolfgang Lieb, Matthew Traylor, Hugh S 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 I W de Bakker, Mattijs E Numans, Ivan Brandslund, Cramer Christensen, Eva R B Petersen, Eeva Korpi-Hyövälti, Heikki Oksa, John C Chambers, Jaspal S Kooner, Alexandra I F Blakemore, Steve Franks, Marjo-Riitta Jarvelin, Lise L Husemoen, Allan Linneberg, Tea Skaaby, Betina Thuesen, Fredrik Karpe, Jaakko Tuomilehto, Alex S F Doney, Andrew D Morris, Colin N A 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 J 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 M M 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
#4
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...
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/24755465/eye-movement-abnormalities-after-a-ruptured-intracranial-aneurysm
#15
Elina Koskela, Aki Laakso, Riku Kivisaari, Kirsi Setälä, Ferzat Hijazy, Juha Hernesniemi
OBJECTIVE: Overlooking eye movement abnormalities associated with aneurysmal subarachnoid hemorrhage (aSAH) is common, although these abnormalities may greatly affect quality of life. Their prevalence remains undetermined. The aim of the study was to assess preoperative and postoperative eye movement abnormalities and their recovery in follow-up of patients with aSAH and their association with age, gender, and aSAH severity. METHODS: Patients admitted to Helsinki University Central Hospital who underwent surgery or endovascular treatment for a ruptured intracranial aneurysm during 2011 were participants in this prospective study...
March 2015: World Neurosurgery
https://www.readbyqxmd.com/read/24722946/visual-field-findings-after-a-ruptured-intracranial-aneurysm
#16
Elina Koskela, Kirsi Setälä, Riku Kivisaari, Juha Hernesniemi, Aki Laakso
BACKGROUND: Visual field defects (VFDs) negatively affect activities of daily living and rehabilitation following aneurysmal subarachnoid haemorrhage (aSAH). The aim here was to assess VFDs in patients with aSAH and their associations with age, gender, aSAH severity, and clinical outcome. METHODS: Patients admitted to Helsinki University Central Hospital and treated during 2011 were participants in this prospective study. Findings obtained with the Octopus 900 perimeter (Haag-Streit Inc, Koenic, Switzerland), the Goldmann perimeter (Haag-Streit Inc, Bern, Switzerland), or the confrontation visual field test on admission and 3 days, 14 days, 2 to 4 months, and 6 months postoperatively were assigned to 16 classes...
July 2014: Acta Neurochirurgica
https://www.readbyqxmd.com/read/24657561/seventy-aneurysms-of-the-posterior-inferior-cerebellar-artery-anatomical-features-and-value-of-computed-tomography-angiography-in-microneurosurgery
#17
Hanna Lehto, Riku Kivisaari, Mika Niemelä, Reza Dashti, Ahmed Elsharkawy, Ali Harati, Jarno Satopää, Päivi Koroknay-Pál, Aki Laakso, Juha Hernesniemi
OBJECTIVE: Aneurysms at the junction of the vertebral artery (VA) and posterior inferior cerebellar artery (PICA) are relatively rare. Their treatment is challenged by the diverse anatomy of the VA and PICA, close involvement of the PICA in the aneurysm neck, and scant space deep in the posterior fossa next to the cranial nerves, brain stem, and obstructing structures of the skull base. Computed tomography angiography (CTA) visualizes bony structures in addition to the vasculature, and being noninvasive and easily available, it can serve for planning microsurgical treatment...
December 2014: World Neurosurgery
https://www.readbyqxmd.com/read/24628616/comparison-of-ct-and-clinical-findings-of-terson-s-syndrome-in-121-patients-a-1-year-prospective-study
#18
COMPARATIVE STUDY
Elina Koskela, Johanna Pekkola, Riku Kivisaari, Tero Kivelä, Juha Hernesniemi, Kirsi Setälä, Aki Laakso
OBJECT: Terson's syndrome (TS) is a vitreous hemorrhage in association with subarachnoid hemorrhage (SAH). Its diagnosis is often delayed, which may result in vision loss secondary to treatable conditions. Methods to hasten early diagnosis and consequent ophthalmic referral are desirable. The aims of this study were 1) to assess the specificity and sensitivity of conventional head CT for diagnosing TS in patients with aneurysmal SAH (aSAH); and 2) to determine the incidence of TS and its association with age, sex, aSAH severity, and overall mortality...
May 2014: Journal of Neurosurgery
https://www.readbyqxmd.com/read/24497844/high-risk-population-isolate-reveals-low-frequency-variants-predisposing-to-intracranial-aneurysms
#19
Mitja I Kurki, Emília Ilona Gaál, Johannes Kettunen, Tuuli Lappalainen, Androniki Menelaou, Verneri Anttila, Femke N G van 't Hof, Mikael von Und Zu Fraunberg, Seppo Helisalmi, Mikko Hiltunen, Hanna Lehto, Aki Laakso, Riku Kivisaari, Timo Koivisto, Antti Ronkainen, Jaakko Rinne, Lambertus A L Kiemeney, Sita H Vermeulen, Mari A Kaunisto, Johan G Eriksson, Arpo Aromaa, Markus Perola, Terho Lehtimäki, Olli T Raitakari, Veikko Salomaa, Murat Gunel, Emmanouil T Dermitzakis, Ynte M Ruigrok, Gabriel J E Rinkel, Mika Niemelä, Juha Hernesniemi, Samuli Ripatti, Paul I W de Bakker, Aarno Palotie, Juha E Jääskeläinen
3% of the population develops saccular intracranial aneurysms (sIAs), a complex trait, with a sporadic and a familial form. Subarachnoid hemorrhage from sIA (sIA-SAH) is a devastating form of stroke. Certain rare genetic variants are enriched in the Finns, a population isolate with a small founder population and bottleneck events. As the sIA-SAH incidence in Finland is >2× increased, such variants may associate with sIA in the Finnish population. We tested 9.4 million variants for association in 760 Finnish sIA patients (enriched for familial sIA), and in 2,513 matched controls with case-control status and with the number of sIAs...
January 2014: PLoS Genetics
https://www.readbyqxmd.com/read/24296542/prospective-flutemetamol-positron-emission-tomography-and-histopathology-in-normal-pressure-hydrocephalus
#20
Juha O Rinne, Janek Frantzen, Ville Leinonen, Kimmo Lonnrot, Aki Laakso, Kirsi A Virtanen, Olof Solin, Anna Kotkansalo, Anne Koivisto, Juha Sajanti, Atte Karppinen, Hanna Lehto, Jaana Rummukainen, Chris Buckley, Adrian Smith, Paul A Jones, Paul Sherwin, Gill Farrar, Richard McLain, Marita Kailajarvi, Igor D Grachev
UNLABELLED: BACKGOUND/OBJECTIVE: To determine the level of association between uptake of the amyloid positron emission tomography (PET) imaging agent [(18)F]flutemetamol and the level of amyloid-β measured by immunohistochemical and histochemical staining in a frontal cortical region biopsy site. METHODS: Seventeen patients with probable normal pressure hydrocephalus (NPH) underwent prospective [(18)F]flutemetamol PET and subsequent frontal cortical brain biopsy during ventriculoperitoneal shunting...
2014: Neuro-degenerative Diseases
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