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Ruth Loos

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https://www.readbyqxmd.com/read/27920155/sos2-and-acp1-loci-identified-through-large-scale-exome-chip-analysis-regulate-kidney-development-and-function
#1
Man Li, Yong Li, Olivia Weeks, Vladan Mijatovic, Alexander Teumer, Jennifer E Huffman, Gerard Tromp, Christian Fuchsberger, Mathias Gorski, Leo-Pekka Lyytikäinen, Teresa Nutile, Sanaz Sedaghat, Rossella Sorice, Adrienne Tin, Qiong Yang, Tarunveer S Ahluwalia, Dan E Arking, Nathan A Bihlmeyer, Carsten A Böger, Robert J Carroll, Daniel I Chasman, Marilyn C Cornelis, Abbas Dehghan, Jessica D Faul, Mary F Feitosa, Giovanni Gambaro, Paolo Gasparini, Franco Giulianini, Iris Heid, Jinyan Huang, Medea Imboden, Anne U Jackson, Janina Jeff, Min A Jhun, Ronit Katz, Annette Kifley, Tuomas O Kilpeläinen, Ashish Kumar, Markku Laakso, Ruifang Li-Gao, Kurt Lohman, Yingchang Lu, Reedik Mägi, Giovanni Malerba, Evelin Mihailov, Karen L Mohlke, Dennis O Mook-Kanamori, Antonietta Robino, Douglas Ruderfer, Erika Salvi, Ursula M Schick, Christina-Alexandra Schulz, Albert V Smith, Jennifer A Smith, Michela Traglia, Laura M Yerges-Armstrong, Wei Zhao, Mark O Goodarzi, Aldi T Kraja, Chunyu Liu, Jennifer Wessel, Eric Boerwinkle, Ingrid B Borecki, Jette Bork-Jensen, Erwin P Bottinger, Daniele Braga, Ivan Brandslund, Jennifer A Brody, Archie Campbell, David J Carey, Cramer Christensen, Josef Coresh, Errol Crook, Gary C Curhan, Daniele Cusi, Ian H de Boer, Aiko P J de Vries, Joshua C Denny, Olivier Devuyst, Albert W Dreisbach, Karlhans Endlich, Tõnu Esko, Oscar H Franco, Tibor Fulop, Glenn S Gerhard, Charlotte Glümer, Omri Gottesman, Niels Grarup, Vilmundur Gudnason, Tamara B Harris, Caroline Hayward, Lynne Hocking, Albert Hofman, Frank B Hu, Lise Lotte N Husemoen, Rebecca D Jackson, Torben Jørgensen, Marit E Jørgensen, Mika Kähönen, Sharon L R Kardia, Wolfgang König, Charles Kooperberg, Jennifer Kriebel, Lenore J Launer, Torsten Lauritzen, Terho Lehtimäki, Daniel Levy, Pamela Linksted, Allan Linneberg, Yongmei Liu, Ruth J F Loos, Antonio Lupo, Christine Meisinger, Olle Melander, Andres Metspalu, Paul Mitchell, Matthias Nauck, Peter Nürnberg, Marju Orho-Melander, Afshin Parsa, Oluf Pedersen, Annette Peters, Ulrike Peters, Ozren Polasek, David Porteous, Nicole M Probst-Hensch, Bruce M Psaty, Lu Qi, Olli T Raitakari, Alex P Reiner, Rainer Rettig, Paul M Ridker, Fernando Rivadeneira, Jacques E Rossouw, Frank Schmidt, David Siscovick, Nicole Soranzo, Konstantin Strauch, Daniela Toniolo, Stephen T Turner, André G Uitterlinden, Sheila Ulivi, Dinesh Velayutham, Uwe Völker, Henry Völzke, Melanie Waldenberger, Jie Jin Wang, David R Weir, Daniel Witte, Helena Kuivaniemi, Caroline S Fox, Nora Franceschini, Wolfram Goessling, Anna Köttgen, Audrey Y Chu
Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; PStage1<3...
December 5, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27877021/medicine-related-services-in-community-pharmacy-public-preferences-for-pharmacy-attributes-and-promotional-methods-and-comparison-with-pharmacists-perceptions
#2
Shivaun M Gammie, Ruth M Rodgers, Ruey Leng Loo, Sarah A Corlett, Janet Krska
BACKGROUND: Public awareness of pharmacy services designed to support the use of medicines is low, yet little is known about how the public view promotion of these services, or their preferences for the attributes of pharmacies from which they would like to receive them. OBJECTIVE: To compare the public's preferred attributes of pharmacies and methods for promoting medicine-related services with community pharmacists' perceptions of their customers' views. METHODS: Parallel surveys were conducted in South East England, using a street survey for the general public and a postal survey for community pharmacists...
2016: Patient Preference and Adherence
https://www.readbyqxmd.com/read/27876822/a-principal-component-meta-analysis-on-multiple-anthropometric-traits-identifies-novel-loci-for-body-shape
#3
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/27736895/variant-discovery-and-fine-mapping-of-genetic-loci-associated-with-blood-pressure-traits-in-hispanics-and-african-americans
#4
Nora Franceschini, Cara L Carty, Yingchang Lu, Ran Tao, Yun Ju Sung, Ani Manichaikul, Jeff Haessler, Myriam Fornage, Karen Schwander, Niha Zubair, Stephanie Bien, Lucia A Hindorff, Xiuqing Guo, Suzette J Bielinski, Georg Ehret, Joel D Kaufman, Stephen S Rich, Christopher S Carlson, Erwin P Bottinger, Kari E North, D C Rao, Aravinda Chakravarti, Paula Q Barrett, Ruth J F Loos, Steven Buyske, Charles Kooperberg
Despite the substantial burden of hypertension in US minority populations, few genetic studies of blood pressure have been conducted in Hispanics and African Americans, and it is unclear whether many of the established loci identified in European-descent populations contribute to blood pressure variation in non-European descent populations. Using the Metabochip array, we sought to characterize the genetic architecture of previously identified blood pressure loci, and identify novel cardiometabolic variants related to systolic and diastolic blood pressure in a multi-ethnic US population including Hispanics (n = 19,706) and African Americans (n = 18,744)...
2016: PloS One
https://www.readbyqxmd.com/read/27731410/no-association-of-coronary-artery-disease-with-x-chromosomal-variants-in-comprehensive-international-meta-analysis
#5
Christina Loley, Maris Alver, Themistocles L Assimes, Andrew Bjonnes, Anuj Goel, Stefan Gustafsson, Jussi Hernesniemi, Jemma C Hopewell, Stavroula Kanoni, Marcus E Kleber, King Wai Lau, Yingchang Lu, Leo-Pekka Lyytikäinen, Christopher P Nelson, Majid Nikpay, Liming Qu, Elias Salfati, Markus Scholz, Taru Tukiainen, Christina Willenborg, Hong-Hee Won, Lingyao Zeng, Weihua Zhang, Sonia S Anand, Frank Beutner, Erwin P Bottinger, Robert Clarke, George Dedoussis, Ron Do, Tõnu Esko, Markku Eskola, Martin Farrall, Dominique Gauguier, Vilmantas Giedraitis, Christopher B Granger, Alistair S Hall, Anders Hamsten, Stanley L Hazen, Jie Huang, Mika Kähönen, Theodosios Kyriakou, Reijo Laaksonen, Lars Lind, Cecilia Lindgren, Patrik K E Magnusson, Eirini Marouli, Evelin Mihailov, Andrew P Morris, Kjell Nikus, Nancy Pedersen, Loukianos Rallidis, Veikko Salomaa, Svati H Shah, Alexandre F R Stewart, John R Thompson, Pierre A Zalloua, John C Chambers, Rory Collins, Erik Ingelsson, Carlos Iribarren, Pekka J Karhunen, Jaspal S Kooner, Terho Lehtimäki, Ruth J F Loos, Winfried März, Ruth McPherson, Andres Metspalu, Muredach P Reilly, Samuli Ripatti, Dharambir K Sanghera, Joachim Thiery, Hugh Watkins, Panos Deloukas, Sekar Kathiresan, Nilesh J Samani, Heribert Schunkert, Jeanette Erdmann, Inke R König
In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome, it has been excluded from most of these analyses. While females have 2 copies of chromosome X, males have only one. Also, one of the female X chromosomes may be inactivated. Therefore, special test statistics and quality control procedures are required. Thus, little is known about the role of X-chromosomal variants in CAD...
October 12, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27672313/comparison-of-pharmacist-and-public-views-and-experiences-of-community-pharmacy-medicines-related-services-in-england
#6
Ruth M Rodgers, Shivaun M Gammie, Ruey Leng Loo, Sarah A Corlett, Janet Krska
BACKGROUND: Services provided by community pharmacists designed to support people using medicines are increasing. In England, two national services exist: Medicine Use Reviews (MUR) and New Medicines Service (NMS). Very few studies have been conducted seeking views of the public, rather than service users, on willingness to use these services or expectations of these services, or determined whether views align with pharmacist perceptions. OBJECTIVE: To compare the perceptions of pharmacists and the general public on medicines-related services, particularly MUR and NMS services...
2016: Patient Preference and Adherence
https://www.readbyqxmd.com/read/27663718/genetic-variation-near-irs1-is-associated-with-adiposity-and-a-favorable-metabolic-profile-in-u-s-hispanics-latinos
#7
Qibin Qi, Stephanie M Gogarten, Leslie S Emery, Tin Louie, Adrienne Stilp, Jianwen Cai, Neil Schneiderman, M Larissa Avilés-Santa, Robert C Kaplan, Kari E North, Cathy C Laurie, Ruth J F Loos, Carmen R Isasi
OBJECTIVE: Associations of IRS1 genetic variation with adiposity and metabolic profile in U.S. Hispanic/Latino individuals of diverse backgrounds were examined. METHODS: Previously genome-wide association study-identified IRS1 variants (rs2943650, rs2972146, rs2943641, and rs2943634) as related to body fat percentage (BF%) and multiple metabolic traits were tested among up to 12,730 adults (5,232 men; 7,515 women) from the Hispanic Community Health Study/Study of Latinos...
November 2016: Obesity
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, 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/27618448/meta-analysis-identifies-common-and-rare-variants-influencing-blood-pressure-and-overlapping-with-metabolic-trait-loci
#9
Chunyu Liu, Aldi T Kraja, Jennifer A Smith, Jennifer A Brody, Nora Franceschini, Joshua C Bis, Kenneth Rice, Alanna C Morrison, Yingchang Lu, Stefan Weiss, Xiuqing Guo, Walter Palmas, Lisa W Martin, Yii-Der Ida Chen, Praveen Surendran, Fotios Drenos, James P Cook, Paul L Auer, Audrey Y Chu, Ayush Giri, Wei Zhao, Johanna Jakobsdottir, Li-An Lin, Jeanette M Stafford, Najaf Amin, Hao Mei, Jie Yao, Arend Voorman, Martin G Larson, Megan L Grove, Albert V Smith, Shih-Jen Hwang, Han Chen, Tianxiao Huan, Gulum Kosova, Nathan O Stitziel, Sekar Kathiresan, Nilesh Samani, Heribert Schunkert, Panos Deloukas, Man Li, Christian Fuchsberger, Cristian Pattaro, Mathias Gorski, Charles Kooperberg, George J Papanicolaou, Jacques E Rossouw, Jessica D Faul, Sharon L R Kardia, Claude Bouchard, Leslie J Raffel, André G Uitterlinden, Oscar H Franco, Ramachandran S Vasan, Christopher J O'Donnell, Kent D Taylor, Kiang Liu, Erwin P Bottinger, Omri Gottesman, E Warwick Daw, Franco Giulianini, Santhi Ganesh, Elias Salfati, Tamara B Harris, Lenore J Launer, Marcus Dörr, Stephan B Felix, Rainer Rettig, Henry Völzke, Eric Kim, Wen-Jane Lee, I-Te Lee, Wayne H-H Sheu, Krystal S Tsosie, Digna R Velez Edwards, Yongmei Liu, Adolfo Correa, David R Weir, Uwe Völker, Paul M Ridker, Eric Boerwinkle, Vilmundur Gudnason, Alexander P Reiner, Cornelia M van Duijn, Ingrid B Borecki, Todd L Edwards, Aravinda Chakravarti, Jerome I Rotter, Bruce M Psaty, Ruth J F Loos, Myriam Fornage, Georg B Ehret, Christopher Newton-Cheh, Daniel Levy, Daniel I Chasman
Meta-analyses of association results for blood pressure using exome-centric single-variant and gene-based tests identified 31 new loci in a discovery stage among 146,562 individuals, with follow-up and meta-analysis in 180,726 additional individuals (total n = 327,288). These blood pressure-associated loci are enriched for known variants for cardiometabolic traits. Associations were also observed for the aggregation of rare and low-frequency missense variants in three genes, NPR1, DBH, and PTPMT1. In addition, blood pressure associations at 39 previously reported loci were confirmed...
October 2016: Nature Genetics
https://www.readbyqxmd.com/read/27573685/crebrf-variant-increases-obesity-risk-and-protects-against-diabetes-in-samoans
#10
Ruth J F Loos
A genome-wide study in Samoans has identified a protein-altering variant (p.Arg475Gln) in CREBRF as being associated with 1.3-fold increased risk of obesity and, intriguingly, 1.6-fold decreased risk of type 2 diabetes. This variant, which is common among Samoans (minor allele frequency = 26%) but extremely rare in other populations, promotes fat storage and reduces energy use in cellular models.
August 30, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27552965/across-cohort-qc-analyses-of-gwas-summary-statistics-from-complex-traits
#11
Guo-Bo Chen, Sang Hong Lee, Matthew R Robinson, Maciej Trzaskowski, Zhi-Xiang Zhu, Thomas W Winkler, Felix R Day, Damien C Croteau-Chonka, Andrew R Wood, Adam E Locke, Zoltán Kutalik, Ruth J F Loos, Timothy M Frayling, Joel N Hirschhorn, Jian Yang, Naomi R Wray, Peter M Visscher
Genome-wide association studies (GWASs) have been successful in discovering SNP trait associations for many quantitative traits and common diseases. Typically, the effect sizes of SNP alleles are very small and this requires large genome-wide association meta-analyses (GWAMAs) to maximize statistical power. A trend towards ever-larger GWAMA is likely to continue, yet dealing with summary statistics from hundreds of cohorts increases logistical and quality control problems, including unknown sample overlap, and these can lead to both false positive and false negative findings...
August 24, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27413137/genetic-and-environmental-effects-on-body-mass-index-from-infancy-to-the-onset-of-adulthood-an-individual-based-pooled-analysis-of-45-twin-cohorts-participating-in-the-collaborative-project-of-development-of-anthropometrical-measures-in-twins-codatwins-study
#12
Karri Silventoinen, Aline Jelenkovic, Reijo Sund, Yoon-Mi Hur, Yoshie Yokoyama, Chika Honda, Jacob vB Hjelmborg, Sören Möller, Syuichi Ooki, Sari Aaltonen, Fuling Ji, Feng Ning, Zengchang Pang, Esther Rebato, Andreas Busjahn, Christian Kandler, Kimberly J Saudino, Kerry L Jang, Wendy Cozen, Amie E Hwang, Thomas M Mack, Wenjing Gao, Canqing Yu, Liming Li, Robin P Corley, Brooke M Huibregtse, Kaare Christensen, Axel Skytthe, Kirsten O Kyvik, Catherine A Derom, Robert F Vlietinck, Ruth Jf Loos, Kauko Heikkilä, Jane Wardle, Clare H Llewellyn, Abigail Fisher, Tom A McAdams, Thalia C Eley, Alice M Gregory, Mingguang He, Xiaohu Ding, Morten Bjerregaard-Andersen, Henning Beck-Nielsen, Morten Sodemann, Adam D Tarnoki, David L Tarnoki, Maria A Stazi, Corrado Fagnani, Cristina D'Ippolito, Ariel Knafo-Noam, David Mankuta, Lior Abramson, S Alexandra Burt, Kelly L Klump, Judy L Silberg, Lindon J Eaves, Hermine H Maes, Robert F Krueger, Matt McGue, Shandell Pahlen, Margaret Gatz, David A Butler, Meike Bartels, Toos Cem van Beijsterveldt, Jeffrey M Craig, Richard Saffery, Duarte L Freitas, José Antonio Maia, Lise Dubois, Michel Boivin, Mara Brendgen, Ginette Dionne, Frank Vitaro, Nicholas G Martin, Sarah E Medland, Grant W Montgomery, Youngsook Chong, Gary E Swan, Ruth Krasnow, Patrik Ke Magnusson, Nancy L Pedersen, Per Tynelius, Paul Lichtenstein, Claire Ma Haworth, Robert Plomin, Gombojav Bayasgalan, Danshiitsoodol Narandalai, K Paige Harden, Elliot M Tucker-Drob, Sevgi Y Öncel, Fazil Aliev, Timothy Spector, Massimo Mangino, Genevieve Lachance, Laura A Baker, Catherine Tuvblad, Glen E Duncan, Dedra Buchwald, Gonneke Willemsen, Finn Rasmussen, Jack H Goldberg, Thorkild Ia Sørensen, Dorret I Boomsma, Jaakko Kaprio
BACKGROUND: Both genetic and environmental factors are known to affect body mass index (BMI), but detailed understanding of how their effects differ during childhood and adolescence is lacking. OBJECTIVES: We analyzed the genetic and environmental contributions to BMI variation from infancy to early adulthood and the ways they differ by sex and geographic regions representing high (North America and Australia), moderate (Europe), and low levels (East Asia) of obesogenic environments...
August 2016: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27398621/the-genetic-architecture-of-type-2-diabetes
#13
Christian Fuchsberger, Jason Flannick, Tanya M Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J McCarthy, Manuel A Rivas, John R B Perry, Xueling Sim, Thomas W Blackwell, Neil R Robertson, N William Rayner, Pablo Cingolani, Adam E Locke, Juan Fernandez Tajes, Heather M Highland, Josee Dupuis, Peter S Chines, Cecilia M Lindgren, Christopher Hartl, Anne U Jackson, Han Chen, Jeroen R Huyghe, Martijn van de Bunt, Richard D Pearson, Ashish Kumar, Martina Müller-Nurasyid, Niels Grarup, Heather M Stringham, Eric R Gamazon, Jaehoon Lee, Yuhui Chen, Robert A Scott, Jennifer E Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L Stitzel, Dorota Pasko, Stephen C J Parker, Tibor V Varga, Todd Green, Nicola L Beer, Aaron G Day-Williams, Teresa Ferreira, Tasha Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, Mohammad Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min-Seok Kwon, Juyoung Lee, Selyeong Lee, Keng-Han Lin, Taylor J Maxwell, Yoshihiko Nagai, Xu Wang, Ryan P Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F Voight, Bok-Ghee Han, Christopher P Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa Manning, Maggie C Y Ng, Nicholette D Palmer, Beverley Balkau, Alena Stancáková, Hanna E Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D Smith, Benjamin M Neale, Shaun Purcell, Adam S Butterworth, Joanna M M Howson, Heung Man Lee, Yingchang Lu, Soo-Heon Kwak, Wei Zhao, John Danesh, Vincent K L Lam, Kyong Soo Park, Danish Saleheen, Wing Yee So, Claudia H T Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching-Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E Curran, Denis Rybin, Vidya S Farook, Sharon P Fowler, Barry I Freedman, Michael Griswold, Daniel Esten Hale, Pamela J Hicks, Chiea-Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothée Thuillier, Wei Yen Lim, Jianjun Liu, Yvonne T van der Schouw, Marie Loh, Solomon K Musani, Sobha Puppala, William R Scott, Loïc Yengo, Sian-Tsung Tan, Herman A Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pål Rasmus Njølstad, Jonathan C Levy, Massimo Mangino, Lori L Bonnycastle, Thomas Schwarzmayr, João Fadista, Gabriela L Surdulescu, Christian Herder, Christopher J Groves, Thomas Wieland, Jette Bork-Jensen, Ivan Brandslund, Cramer Christensen, Heikki A Koistinen, Alex S F Doney, Leena Kinnunen, Tõnu Esko, Andrew J Farmer, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravic, Valeriya Lyssenko, Mette Hollensted, Marit E Jørgensen, Torben Jørgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Käräjämäki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt Neville, Marju Orho-Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy Swift, Anders H Rosengren, Kathleen Stirrups, Andrew R Wood, Evelin Mihailov, Christine Blancher, Mauricio O Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy Fennell, Mark DePristo, Martin Hrabé de Angelis, Panos Deloukas, Anette P Gjesing, Goo Jun, Peter Nilsson, Jacquelyn Murphy, Robert Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, Frank B Hu, Bo Isomaa, Fredrik Karpe, Liming Liang, Annette Peters, Cornelia Huth, Stephen P O'Rahilly, Colin N A Palmer, Oluf Pedersen, Rainer Rauramaa, Jaakko Tuomilehto, Veikko Salomaa, Richard M Watanabe, Ann-Christine Syvänen, Richard N Bergman, Dwaipayan Bharadwaj, Erwin P Bottinger, Yoon Shin Cho, Giriraj R Chandak, Juliana C N Chan, Kee Seng Chia, Mark J Daly, Shah B Ebrahim, Claudia Langenberg, Paul Elliott, Kathleen A Jablonski, Donna M Lehman, Weiping Jia, Ronald C W Ma, Toni I Pollin, Manjinder Sandhu, Nikhil Tandon, Philippe Froguel, Inês Barroso, Yik Ying Teo, Eleftheria Zeggini, Ruth J F Loos, Kerrin S Small, Janina S Ried, Ralph A DeFronzo, Harald Grallert, Benjamin Glaser, Andres Metspalu, Nicholas J Wareham, Mark Walker, Eric Banks, Christian Gieger, Erik Ingelsson, Hae Kyung Im, Thomas Illig, Paul W Franks, Gemma Buck, Joseph Trakalo, David Buck, Inga Prokopenko, Reedik Mägi, Lars Lind, Yossi Farjoun, Katharine R Owen, Anna L Gloyn, Konstantin Strauch, Tiinamaija Tuomi, Jaspal Singh Kooner, Jong-Young Lee, Taesung Park, Peter Donnelly, Andrew D Morris, Andrew T Hattersley, Donald W Bowden, Francis S Collins, Gil Atzmon, John C Chambers, Timothy D Spector, Markku Laakso, Tim M Strom, Graeme I Bell, John Blangero, Ravindranath Duggirala, E Shyong Tai, Gilean McVean, Craig L Hanis, James G Wilson, Mark Seielstad, Timothy M Frayling, James B Meigs, Nancy J Cox, Rob Sladek, Eric S Lander, Stacey Gabriel, Noël P Burtt, Karen L Mohlke, Thomas Meitinger, Leif Groop, Goncalo Abecasis, Jose C Florez, Laura J Scott, Andrew P Morris, Hyun Min Kang, Michael Boehnke, David Altshuler, Mark I McCarthy
The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups...
August 4, 2016: Nature
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
#14
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
#15
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
#16
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
#17
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
https://www.readbyqxmd.com/read/27333805/genetic-and-environmental-influences-on-height-from-infancy-to-early-adulthood-an-individual-based-pooled-analysis-of-45-twin-cohorts
#18
Aline Jelenkovic, Reijo Sund, Yoon-Mi Hur, Yoshie Yokoyama, Jacob V B Hjelmborg, Sören Möller, Chika Honda, Patrik K E Magnusson, Nancy L Pedersen, Syuichi Ooki, Sari Aaltonen, Maria A Stazi, Corrado Fagnani, Cristina D'Ippolito, Duarte L Freitas, José Antonio Maia, Fuling Ji, Feng Ning, Zengchang Pang, Esther Rebato, Andreas Busjahn, Christian Kandler, Kimberly J Saudino, Kerry L Jang, Wendy Cozen, Amie E Hwang, Thomas M Mack, Wenjing Gao, Canqing Yu, Liming Li, Robin P Corley, Brooke M Huibregtse, Catherine A Derom, Robert F Vlietinck, Ruth J F Loos, Kauko Heikkilä, Jane Wardle, Clare H Llewellyn, Abigail Fisher, Tom A McAdams, Thalia C Eley, Alice M Gregory, Mingguang He, Xiaohu Ding, Morten Bjerregaard-Andersen, Henning Beck-Nielsen, Morten Sodemann, Adam D Tarnoki, David L Tarnoki, Ariel Knafo-Noam, David Mankuta, Lior Abramson, S Alexandra Burt, Kelly L Klump, Judy L Silberg, Lindon J Eaves, Hermine H Maes, Robert F Krueger, Matt McGue, Shandell Pahlen, Margaret Gatz, David A Butler, Meike Bartels, Toos C E M van Beijsterveldt, Jeffrey M Craig, Richard Saffery, Lise Dubois, Michel Boivin, Mara Brendgen, Ginette Dionne, Frank Vitaro, Nicholas G Martin, Sarah E Medland, Grant W Montgomery, Gary E Swan, Ruth Krasnow, Per Tynelius, Paul Lichtenstein, Claire M A Haworth, Robert Plomin, Gombojav Bayasgalan, Danshiitsoodol Narandalai, K Paige Harden, Elliot M Tucker-Drob, Timothy Spector, Massimo Mangino, Genevieve Lachance, Laura A Baker, Catherine Tuvblad, Glen E Duncan, Dedra Buchwald, Gonneke Willemsen, Axel Skytthe, Kirsten O Kyvik, Kaare Christensen, Sevgi Y Öncel, Fazil Aliev, Finn Rasmussen, Jack H Goldberg, Thorkild I A Sørensen, Dorret I Boomsma, Jaakko Kaprio, Karri Silventoinen
Height variation is known to be determined by both genetic and environmental factors, but a systematic description of how their influences differ by sex, age and global regions is lacking. We conducted an individual-based pooled analysis of 45 twin cohorts from 20 countries, including 180,520 paired measurements at ages 1-19 years. The proportion of height variation explained by shared environmental factors was greatest in early childhood, but these effects remained present until early adulthood. Accordingly, the relative genetic contribution increased with age and was greatest in adolescence (up to 0...
June 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27329260/genomewide-meta-analysis-identifies-loci-associated-with-igf-i-and-igfbp-3-levels-with-impact-on-age-related-traits
#19
Alexander Teumer, Qibin Qi, Maria Nethander, Hugues Aschard, Stefania Bandinelli, Marian Beekman, Sonja I Berndt, Martin Bidlingmaier, Linda Broer, Anne Cappola, Gian Paolo Ceda, Stephen Chanock, Ming-Huei Chen, Tai C Chen, Yii-Der Ida Chen, Jonathan Chung, Fabiola Del Greco Miglianico, Joel Eriksson, Luigi Ferrucci, Nele Friedrich, Carsten Gnewuch, Mark O Goodarzi, Niels Grarup, Tingwei Guo, Elke Hammer, Richard B Hayes, Andrew A Hicks, Albert Hofman, Jeanine J Houwing-Duistermaat, Frank Hu, David J Hunter, Lise L Husemoen, Aaron Isaacs, Kevin B Jacobs, Joop A M J L Janssen, John-Olov Jansson, Nico Jehmlich, Simon Johnson, Anders Juul, Magnus Karlsson, Tuomas O Kilpelainen, Peter Kovacs, Peter Kraft, Chao Li, Allan Linneberg, Yongmei Liu, Ruth J F Loos, Mattias Lorentzon, Yingchang Lu, Marcello Maggio, Reedik Magi, James Meigs, Dan Mellström, Matthias Nauck, Anne B Newman, Michael N Pollak, Peter P Pramstaller, Inga Prokopenko, Bruce M Psaty, Martin Reincke, Eric B Rimm, Jerome I Rotter, Aude Saint Pierre, Claudia Schurmann, Sudha Seshadri, Klara Sjögren, P Eline Slagboom, Howard D Strickler, Michael Stumvoll, Yousin Suh, Qi Sun, Cuilin Zhang, Johan Svensson, Toshiko Tanaka, Archana Tare, Anke Tönjes, Hae-Won Uh, Cornelia M van Duijn, Diana van Heemst, Liesbeth Vandenput, Ramachandran S Vasan, Uwe Völker, Sara M Willems, Claes Ohlsson, Henri Wallaschofski, Robert C Kaplan
The growth hormone/insulin-like growth factor (IGF) axis can be manipulated in animal models to promote longevity, and IGF-related proteins including IGF-I and IGF-binding protein-3 (IGFBP-3) have also been implicated in risk of human diseases including cardiovascular diseases, diabetes, and cancer. Through genomewide association study of up to 30 884 adults of European ancestry from 21 studies, we confirmed and extended the list of previously identified loci associated with circulating IGF-I and IGFBP-3 concentrations (IGF1, IGFBP3, GCKR, TNS3, GHSR, FOXO3, ASXL2, NUBP2/IGFALS, SORCS2, and CELSR2)...
October 2016: Aging Cell
https://www.readbyqxmd.com/read/27321945/trans-ethnic-meta-analysis-and-functional-annotation-illuminates-the%C3%A2-genetic-architecture-of-fasting-glucose-and-insulin
#20
Ching-Ti Liu, Sridharan Raghavan, Nisa Maruthur, Edmond Kato Kabagambe, Jaeyoung Hong, Maggie C Y Ng, Marie-France Hivert, Yingchang Lu, Ping An, Amy R Bentley, Anne M Drolet, Kyle J Gaulton, Xiuqing Guo, Loren L Armstrong, Marguerite R Irvin, Man Li, Leonard Lipovich, Denis V Rybin, Kent D Taylor, Charles Agyemang, Nicholette D Palmer, Brian E Cade, Wei-Min Chen, Marco Dauriz, Joseph A C Delaney, Todd L Edwards, Daniel S Evans, Michele K Evans, Leslie A Lange, Aaron Leong, Jingmin Liu, Yongmei Liu, Uma Nayak, Sanjay R Patel, Bianca C Porneala, Laura J Rasmussen-Torvik, Marieke B Snijder, Sarah C Stallings, Toshiko Tanaka, Lisa R Yanek, Wei Zhao, Diane M Becker, Lawrence F Bielak, Mary L Biggs, Erwin P Bottinger, Donald W Bowden, Guanjie Chen, Adolfo Correa, David J Couper, Dana C Crawford, Mary Cushman, John D Eicher, Myriam Fornage, Nora Franceschini, Yi-Ping Fu, Mark O Goodarzi, Omri Gottesman, Kazuo Hara, Tamara B Harris, Richard A Jensen, Andrew D Johnson, Min A Jhun, Andrew J Karter, Margaux F Keller, Abel N Kho, Jorge R Kizer, Ronald M Krauss, Carl D Langefeld, Xiaohui Li, Jingling Liang, Simin Liu, William L Lowe, Thomas H Mosley, Kari E North, Jennifer A Pacheco, Patricia A Peyser, Alan L Patrick, Kenneth M Rice, Elizabeth Selvin, Mario Sims, Jennifer A Smith, Salman M Tajuddin, Dhananjay Vaidya, Mary P Wren, Jie Yao, Xiaofeng Zhu, Julie T Ziegler, Joseph M Zmuda, Alan B Zonderman, Aeilko H Zwinderman, Adebowale Adeyemo, Eric Boerwinkle, Luigi Ferrucci, M Geoffrey Hayes, Sharon L R Kardia, Iva Miljkovic, James S Pankow, Charles N Rotimi, Michele M Sale, Lynne E Wagenknecht, Donna K Arnett, Yii-Der Ida Chen, Michael A Nalls, Michael A Province, W H Linda Kao, David S Siscovick, Bruce M Psaty, James G Wilson, Ruth J F Loos, Josée Dupuis, Stephen S Rich, Jose C Florez, Jerome I Rotter, Andrew P Morris, James B Meigs
Knowledge of the genetic basis of the type 2 diabetes (T2D)-related quantitative traits fasting glucose (FG) and insulin (FI) in African ancestry (AA) individuals has been limited. In non-diabetic subjects of AA (n = 20,209) and European ancestry (EA; n = 57,292), we performed trans-ethnic (AA+EA) fine-mapping of 54 established EA FG or FI loci with detailed functional annotation, assessed their relevance in AA individuals, and sought previously undescribed loci through trans-ethnic (AA+EA) meta-analysis. We narrowed credible sets of variants driving association signals for 22/54 EA-associated loci; 18/22 credible sets overlapped with active islet-specific enhancers or transcription factor (TF) binding sites, and 21/22 contained at least one TF motif...
July 7, 2016: American Journal of Human Genetics
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