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Genomic Surveillance of Enterococcus faecium Reveals Limited Sharing of Strains and Resistance Genes between Livestock and Humans in the United Kingdom.
Theodore Gouliouris, Kathy E Raven, Catherine Ludden, Beth Blane, Jukka Corander, Carolyne S Horner, Juan Hernandez-Garcia, Paul Wood, Nazreen F Hadjirin, Milorad Radakovic, Mark A Holmes, Marcus de Goffau, Nicholas M Brown, Julian Parkhill, Sharon J Peacock
Dec 03, 2018
Vancomycin-resistant Enterococcus faecium (VREfm) is a major cause of nosocomial infection and is categorized as high priority by the World Health Organization global priority list of antibiotic-resistant bacteria. In the past...
Enterococcus faecium One Health genome sequencing Livestock vancomycin resistant vancomycin-resistant Animals Anti-Bacterial Agents Cross-Sectional Studies Drug Resistance Multiple Bacterial Enterococcus faecium Epidemiological Monitoring Farms Genome Bacterial Genotype Gram-Positive Bacterial Infections Humans Livestock Meat Products Microbial Sensitivity Tests Phylogeny Polymorphism Single Nucleotide prevalence Swine United Kingdom Vancomycin Resistance Vancomycin-Resistant Enterococci Wastewater whole genome sequencing
Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding.
Michael E Reschen, Kyle J Gaulton, Da Lin, Elizabeth J Soilleux, Andrew J Morris, Susan S Smyth, Christopher A O'Callaghan
Dec 17, 2018
Genome-wide association studies (GWAS) have identified over 40 loci that affect risk of coronary artery disease (CAD) and the causal mechanisms at the majority of loci are unknown. Recent studies have suggested that many causal...
Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1.
Michael E Reschen, Da Lin, Anil Chalisey, Elizabeth J Soilleux, Christopher A O'Callaghan
Dec 17, 2018
BACKGROUND AND AIMS: Coronary artery disease (CAD) risk is associated with non-coding genetic variants at the phosphatase and actin regulating protein 1(PHACTR1) gene locus. The PHACTR1 gene encodes an actin-binding protein with...
Atherosclerosis Expression quantitative trait locus (eQTL) Functional genomics genetic disease Genetic polymorphism Genomics Low-density lipoprotein (LDL) Myocardial Infarction Oxidized low density lipoprotein (oxLDL) PHACTR1 Adult Aged Alleles Atherosclerosis Coronary Artery Disease Coronary Vessels Endothelial Cells Gene Expression Regulation Gene-Environment Interaction Genotype Humans Inflammation Lipopolysaccharides MACROPHAGES Microfilament Proteins Middle Aged Muscle Smooth Vascular Polymorphism Single Nucleotide Tumor Necrosis Factor-alpha Young Adult
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle, Anne Boland, Rachel Raybould, Joshua C Bis, Eden R Martin, Benjamin Grenier-Boley, Stefanie Heilmann-Heimbach, Vincent Chouraki, Amanda B Kuzma, Kristel Sleegers, Maria Vronskaya, Agustin Ruiz, Robert R Graham, Robert Olaso, Per Hoffmann, Megan L Grove, Badri N Vardarajan, Mikko Hiltunen, Markus M Nöthen, Charles C White, Kara L Hamilton-Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W Beecham, Cécile Dulary, Stefan Herms, Albert V Smith, Cory C Funk, Céline Derbois, Andreas J Forstner, Shahzad Ahmad, Hongdong Li, Delphine Bacq, Denise Harold, Claudia L Satizabal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A Brody, Liming Qu, Pascual Sánchez-Juan, Taniesha Morgan, Frank J Wolters, Yi Zhao, Florentino Sanchez Garcia, Nicola Denning, Myriam Fornage, John Malamon, Maria Candida Deniz Naranjo, Elisa Majounie, Thomas H Mosley, Beth Dombroski, David Wallon, Michelle K Lupton, Josée Dupuis, Patrice Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno-Grau, Jeremy D Burgess, Vincenzo Solfrizzi, Petra Proitsi, Hieab H Adams, Mariet Allen, Davide Seripa, Pau Pastor, L Adrienne Cupples, Nathan D Price, Didier Hannequin, Ana Frank-García, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa S Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C Barber, Martin Scherer, Lluis Tarraga, Perrie M Adams, Markus Leber, Yuning Chen, Marilyn S Albert, Steffi Riedel-Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S Doody, Gianfranco Spalletta, WT Longstreth, Thomas J Fairchild, Paola Bossù, Oscar L Lopez, Matthew P Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan M Huebinger, Frank Jessen, Shuo Li, M Ilyas Kamboh, John Morris, Oscar Sotolongo-Grau, Mindy J Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Rachel Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mònica Díez Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kloszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T Hughes, Jenny Lord, James Turton, Annette M Hartmann, Roberta Cecchetti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda S Barber, Keeley Brookes, Chiara Cupidi, Raffaele Giovanni Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C Fox, John Hardy, ARUK Consortium, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Eileen H Bigio, Thomas D Bird, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Carolina Ceballos Diaz, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A Evans, Kelley M Faber, Kenneth B Fallon, David W Fardo, Martin R Farlow, Steven Ferris, Tatiana M Foroud, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, John R Gilbert, Neill R Graff-Radford, Robert C Green, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Lawrence S Honig, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Erin Abner, Lee-Way Jin, Gyungah Jun, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Kathryn L Lunetta, Constantine G Lyketsos, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, John C Morris, Jill R Murrell, Amanda J Myers, Sid O'Bryant, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Henry L Paulson, William Perry, Elaine Peskind, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Mark A Sager, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter P De Deyn, Carmen Muñoz Fernadez, Yoland Aladro Benito, Hakan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult-Stählbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne Maria Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fievet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, Jayanadra J Himali, C Dirk Keene, JoAnn Tschanz, Annette L Fitzpatrick, Walter A Kukull, Maria Norton, Thor Aspelund, Eric B Larson, Ron Munger, Jerome I Rotter, Richard B Lipton, María J Bullido, Albert Hofman, Thomas J Montine, Eliecer Coto, Eric Boerwinkle, Ronald C Petersen, Victoria Alvarez, Fernando Rivadeneira, Eric M Reiman, Maura Gallo, Christopher J O'Donnell, Joan S Reisch, Amalia Cecilia Bruni, Donald R Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George-Hyslop, Elio Scarpini, Debby W Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R Winslow, Antonio Daniele, Chuang-Kuo Wu, CHARGE, ADGC, EADI GERAD/PERADES, Oliver Peters, Benedetta Nacmias, Matthias Riemenschneider, Reinhard Heun, Carol Brayne, David C Rubinsztein, Jose Bras, Rita Guerreiro, Ammar Al-Chalabi, Christopher E Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael C O'Donovan, Michael J Owen, Timothy W Behrens, Simon Mead, Alison M Goate, Andre G Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A Bennett, John Powell, Todd E Golde, Caroline Graff, Philip L De Jager, Kevin Morgan, Nilufer Ertekin-Taner, Onofre Combarros, Bruce M Psaty, Peter Passmore, Steven G Younkin, Claudine Berr, Vilmundur Gudnason, Dan Rujescu, Dennis W Dickson, Jean-François Dartigues, Anita L DeStefano, Sara Ortega-Cubero, Hakon Hakonarson, Dominique Campion, Merce Boada, John Keoni Kauwe, Lindsay A Farrer, Christine Van Broeckhoven, M Arfan Ikram, Lesley Jones, Jonathan L Haines, Christophe Tzourio, Lenore J Launer, Valentina Escott-Price, Richard Mayeux, Jean-François Deleuze, Najaf Amin, Peter A Holmans, Margaret A Pericak-Vance, Philippe Amouyel, Cornelia M van Duijn, Alfredo Ramirez, Li-San Wang, Jean-Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D Schellenberg
Apr 03, 2018
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested...
Adaptor Proteins Signal Transducing Alzheimer Disease Amino Acid Sequence Case-Control Studies Exome Gene Expression Profiling Gene Frequency Genetic Predisposition to Disease Genotype Humans Immunity Innate Linkage Disequilibrium Membrane Glycoproteins Microglia Odds Ratio Phospholipase C gamma Polymorphism Single Nucleotide Protein Interaction Maps Receptors Immunologic Sequence Homology Amino Acid
Circulating vitamin D concentrations and risk of breast and prostate cancer
Xia Jiang, Niki L Dimou, Kawthar Al-Dabhani, Sarah J Lewis, Richard M Martin, Philip C Haycock, Marc J Gunter, Timothy J Key, Rosalind A Eeles, Kenneth Muir, David Neal, Graham G Giles, Edward L Giovannucci, Meir Stampfer, Brandon L Pierce, Joellen M Schildkraut, Shaneda Warren Andersen, Deborah Thompson, Wei Zheng, Peter Kraft, Konstantinos K Tsilidis, CRUK, BPC3, CAPS and PEGASUS consortia PRACTICAL
Apr 26, 2018
BACKGROUND: Observational studies have suggested an association between circulating vitamin D concentrations [25(OH)D] and risk of breast and prostate cancer, which was not supported by a recent Mendelian randomization (MR)...
Mendelian randomization Breast malignancy Prostate serum vitamin D concentrations Aged Breast Neoplasms Causality Female Genome-Wide Association Study Humans Male Mendelian Randomization Analysis Middle Aged Polymorphism Single Nucleotide Prostatic Neoplasms Receptors Estrogen Risk Factors vitamin D
Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.
Andréanne Morin, Anne-Marie Madore, Tony Kwan, Maria Ban, Jukka Partanen, Lars Rönnblom, Ann-Christine Syvänen, Stephen Sawcer, Hendrik Stunnenberg, Mark Lathrop, Tomi Pastinen, Catherine Laprise
Oct 03, 2018
The Saguenay-Lac-Saint-Jean (SLSJ) region is located in northeastern Quebec and is known for its unique demographic history and founder effect. As founder populations are enriched with population-specific variants, we...
Adolescent Adult Aged Aged 80 and over Asthma Child Child Preschool DNA-Binding Proteins Female Gene Frequency Humans Male Microtubule-Associated Proteins Middle Aged Mitochondrial Proteins Neuropilin-2 Polymorphism Single Nucleotide Quebec Receptors CXCR6 Ribosomal Proteins Serpin E2 Transcription Factors
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
Helen R Griffin, Angela Pyle, Emma L Blakely, Charlotte L Alston, Jennifer Duff, Gavin Hudson, Rita Horvath, Ian J Wilson, Mauro Santibanez-Koref, Robert W Taylor, Patrick F Chinnery
Mar 07, 2019
PURPOSE: Mitochondrial disorders are a common cause of inherited metabolic disease and can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic approach involves the targeted resequencing of...
Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.
Sjur Reppe, Yunpeng Wang, Wesley K Thompson, Linda K McEvoy, Andrew J Schork, Verena Zuber, Marissa LeBlanc, Francesco Bettella, Ian G Mills, Rahul S Desikan, Srdjan Djurovic, Kaare M Gautvik, Anders M Dale, Ole A Andreassen, GEFOS Consortium
Mar 11, 2019
Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but...
Frequent transmission of the Mycobacterium tuberculosis Beijing lineage and positive selection for the EsxW Beijing variant in Vietnam.
Kathryn E Holt, Paul McAdam, Phan Vuong Khac Thai, Nguyen Thuy Thuong Thuong, Dang Thi Minh Ha, Nguyen Ngoc Lan, Nguyen Huu Lan, Nguyen Thi Quynh Nhu, Hoang Thanh Hai, Vu Thi Ngoc Ha, Guy Thwaites, David J Edwards, Artika P Nath, Kym Pham, David B Ascher, Jeremy Farrar, Chiea Chuen Khor, Yik Ying Teo, Michael Inouye, Maxine Caws, Sarah J Dunstan
Sep 05, 2018
To examine the transmission dynamics of Mycobacterium tuberculosis (Mtb) isolated from tuberculosis patients in Ho Chi Minh City, Vietnam, we sequenced the whole genomes of 1,635 isolates and compared these with 3,144 isolates...
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Emmanuelle Souzeau, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne EM Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline CW Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Sep 05, 2018
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In...
ADAMTS Proteins Asian People Cornea Corneal Diseases Corneal Dystrophies Hereditary Decorin Ehlers-Danlos Syndrome Eye Diseases Hereditary Fibrillin-1 Gene Expression Genome Human Genome-Wide Association Study Glaucoma Open-Angle Humans Keratoconus Loeys-Dietz Syndrome Lumican Marfan Syndrome Mendelian Randomization Analysis Myopia Polymorphism Single Nucleotide Proteoglycans Quantitative Trait Loci Quantitative Trait Heritable Transforming Growth Factor beta2 White People
Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium.
Jordi Merino, Hassan S Dashti, Sherly X Li, Chloé Sarnowski, Anne E Justice, Misa Graff, Constantina Papoutsakis, Caren E Smith, George V Dedoussis, Rozenn N Lemaitre, Mary K Wojczynski, Satu Männistö, Julius S Ngwa, Minjung Kho, Tarunveer S Ahluwalia, Natalia Pervjakova, Denise K Houston, Claude Bouchard, Tao Huang, Marju Orho-Melander, Alexis C Frazier-Wood, Dennis O Mook-Kanamori, Louis Pérusse, Craig E Pennell, Paul S de Vries, Trudy Voortman, Olivia Li, Stavroula Kanoni, Lynda M Rose, Terho Lehtimäki, Jing Hua Zhao, Mary F Feitosa, Jian'an Luan, Nicola M McKeown, Jennifer A Smith, Torben Hansen, Niina Eklund, Mike A Nalls, Tuomo Rankinen, Jinyan Huang, Dena G Hernandez, Christina-Alexandra Schulz, Ani Manichaikul, Ruifang Li-Gao, Marie-Claude Vohl, Carol A Wang, Frank JA van Rooij, Jean Shin, Ioanna P Kalafati, Felix Day, Paul M Ridker, Mika Kähönen, David S Siscovick, Claudia Langenberg, Wei Zhao, Arne Astrup, Paul Knekt, Melissa Garcia, DC Rao, Qibin Qi, Luigi Ferrucci, Ulrika Ericson, John Blangero, Albert Hofman, Zdenka Pausova, Vera Mikkilä, Nick J Wareham, Sharon LR Kardia, Oluf Pedersen, Antti Jula, Joanne E Curran, M Carola Zillikens, Jorma S Viikari, Nita G Forouhi, José M Ordovás, John C Lieske, Harri Rissanen, André G Uitterlinden, Olli T Raitakari, Jessica C Kiefte-de Jong, Josée Dupuis, Jerome I Rotter, Kari E North, Robert A Scott, Michael A Province, Markus Perola, L Adrienne Cupples, Stephen T Turner, Thorkild IA Sørensen, Veikko Salomaa, Yongmei Liu, Yun J Sung, Lu Qi, Stefania Bandinelli, Stephen S Rich, Renée de Mutsert, Angelo Tremblay, Wendy H Oddy, Oscar H Franco, Tomas Paus, Jose C Florez, Panos Deloukas, Leo-Pekka Lyytikäinen, Daniel I Chasman, Audrey Y Chu, Toshiko Tanaka
Sep 19, 2018
Macronutrient intake, the proportion of calories consumed from carbohydrate, fat, and protein, is an important risk factor for metabolic diseases with significant familial aggregation. Previous studies have identified two...
Aged aging Alpha-Ketoglutarate-Dependent Dioxygenase FTO Cohort Studies Energy Intake Female Fibroblast Growth Factors Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Genomics Genotype Heart Diseases Humans Male Membrane Proteins Middle Aged nutrients obesity Polymorphism Single Nucleotide Receptors Retinoic Acid White People
Screening for Barrett's Esophagus
New improved methods are required for the early detection of esophageal adenocarcinoma in order to reduce mortality from this aggressive cancer. In this review we discuss different screening methods which are currently under...
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Amit Sud, Hauke Thomsen, Giulia Orlando, Asta Försti, Philip J Law, Peter Broderick, Rosie Cooke, Fadi Hariri, Tomi Pastinen, Douglas F Easton, Paul DP Pharoah, Alison M Dunning, Julian Peto, Federico Canzian, Rosalind Eeles, Zsofia Kote-Jarai, Kenneth Muir, Nora Pashayan, Daniele Campa, Per Hoffmann, Markus M Nöthen, Karl-Heinz Jöckel, Elke Pogge von Strandmann, Anthony J Swerdlow, Andreas Engert, Nick Orr, Kari Hemminki, Richard S Houlston
Nov 21, 2018
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.
Jingtao Lilue, Anthony G Doran, Ian T Fiddes, Monica Abrudan, Joel Armstrong, Ruth Bennett, William Chow, Joanna Collins, Stephan Collins, Anne Czechanski, Petr Danecek, Mark Diekhans, Dirk-Dominik Dolle, Matt Dunn, Richard Durbin, Dent Earl, Anne Ferguson-Smith, Paul Flicek, Jonathan Flint, Adam Frankish, Beiyuan Fu, Mark Gerstein, James Gilbert, Leo Goodstadt, Jennifer Harrow, Kerstin Howe, Ximena Ibarra-Soria, Mikhail Kolmogorov, Chris J Lelliott, Darren W Logan, Jane Loveland, Clayton E Mathews, Richard Mott, Paul Muir, Stefanie Nachtweide, Fabio CP Navarro, Duncan T Odom, Naomi Park, Sarah Pelan, Son K Pham, Mike Quail, Laura Reinholdt, Lars Romoth, Lesley Shirley, Cristina Sisu, Marcela Sjoberg-Herrera, Mario Stanke, Charles Steward, Mark Thomas, Glen Threadgold, David Thybert, James Torrance, Kim Wong, Jonathan Wood, Binnaz Yalcin, Fengtang Yang, David J Adams, Benedict Paten, Thomas M Keane
Nov 22, 2018
We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference...
The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism.
Florina Uzefovsky, Richard AI Bethlehem, Simone Shamay-Tsoory, Amber Ruigrok, Rosemary Holt, Michael Spencer, Lindsay Chura, Varun Warrier, Bhismadev Chakrabarti, Ed Bullmore, John Suckling, Dorothea Floris, Simon Baron-Cohen
May 01, 2019
BACKGROUND: Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor...
Genetic determinants of risk in pulmonary arterial hypertension
Christopher J Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Marine Germain, Michael W Pauciulo, Charaka Hadinnapola, Jurjan Aman, Barbara Girerd, Amit Arora, Jo Knight, Ken B Hanscombe, Jason H Karnes, Marika Kaakinen, Henning Gall, Anna Ulrich, Lars Harbaum, Inês Cebola, Jorge Ferrer, Katie Lutz, Emilia M Swietlik, Ferhaan Ahmad, Philippe Amouyel, Stephen L Archer, Rahul Argula, Eric D Austin, David Badesch, Sahil Bakshi, Christopher Barnett, Raymond Benza, Nitin Bhatt, Harm J Bogaard, Charles D Burger, Murali Chakinala, Colin Church, John G Coghlan, Robin Condliffe, Paul A Corris, Cesare Danesino, Stéphanie Debette, C Gregory Elliott, Jean Elwing, Melanie Eyries, Terry Fortin, Andre Franke, Robert P Frantz, Adaani Frost, Joe GN Garcia, Stefano Ghio, Hossein-Ardeschir Ghofrani, J Simon R Gibbs, John Harley, Hua He, Nicholas S Hill, Russel Hirsch, Arjan C Houweling, Luke S Howard, Dunbar Ivy, David G Kiely, James Klinger, Gabor Kovacs, Tim Lahm, Matthias Laudes, Rajiv D Machado, Robert V MacKenzie Ross, Keith Marsolo, Lisa J Martin, Shahin Moledina, David Montani, Steven D Nathan, Michael Newnham, Andrea Olschewski, Horst Olschewski, Ronald J Oudiz, Willem H Ouwehand, Andrew J Peacock, Joanna Pepke-Zaba, Zia Rehman, Ivan Robbins, Dan M Roden, Erika B Rosenzweig, Ghulam Saydain, Laura Scelsi, Robert Schilz, Werner Seeger, Christian M Shaffer, Robert W Simms, Marc Simon, Olivier Sitbon, Jay Suntharalingam, Haiyang Tang, Alexander Y Tchourbanov, Thenappan Thenappan, Fernando Torres, Mark R Toshner, Carmen M Treacy, Anton Vonk Noordegraaf, Quinten Waisfisz, Anna K Walsworth, Robert E Walter, John Wharton, R James White, Jeffrey Wilt, Stephen J Wort, Delphine Yung, Allan Lawrie, Marc Humbert, Florent Soubrier, David-Alexandre Trégouët, Inga Prokopenko, Richard Kittles, Stefan Gräf, William C Nichols, Richard C Trembath, Ankit A Desai, Nicholas W Morrell, Martin R Wilkins, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium
Jan 08, 2019
BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for...
Female Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Genotyping Techniques HLA-DP alpha-Chains HLA-DP beta-Chains Humans Male Middle Aged Polymorphism Single Nucleotide pulmonary arterial hypertension Risk Assessment SOXF Transcription Factors Signal Transduction Survival Analysis
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.
A Mesut Erzurumluoglu, Mengzhen Liu, Victoria E Jackson, Daniel R Barnes, Gargi Datta, Carl A Melbourne, Robin Young, Chiara Batini, Praveen Surendran, Tao Jiang, Sheikh Daud Adnan, Saima Afaq, Arpana Agrawal, Elisabeth Altmaier, Antonis C Antoniou, Folkert W Asselbergs, Clemens Baumbach, Laura Bierut, Sarah Bertelsen, Michael Boehnke, Michiel L Bots, David M Brazel, John C Chambers, Jenny Chang-Claude, Chu Chen, Janie Corley, Yi-Ling Chou, Sean P David, Rudolf A de Boer, Christiaan A de Leeuw, Joe G Dennis, Anna F Dominiczak, Alison M Dunning, Douglas F Easton, Charles Eaton, Paul Elliott, Evangelos Evangelou, Jessica D Faul, Tatiana Foroud, Alison Goate, Jian Gong, Hans J Grabe, Jeff Haessler, Christopher Haiman, Göran Hallmans, Anke R Hammerschlag, Sarah E Harris, Andrew Hattersley, Andrew Heath, Chris Hsu, William G Iacono, Stavroula Kanoni, Manav Kapoor, Jaakko Kaprio, Sharon L Kardia, Fredrik Karpe, Jukka Kontto, Jaspal S Kooner, Charles Kooperberg, Kari Kuulasmaa, Markku Laakso, Dongbing Lai, Claudia Langenberg, Nhung Le, Guillaume Lettre, Anu Loukola, Jian'an Luan, Pamela AF Madden, Massimo Mangino, Riccardo E Marioni, Eirini Marouli, Jonathan Marten, Nicholas G Martin, Matt McGue, Kyriaki Michailidou, Evelin Mihailov, Alireza Moayyeri, Marie Moitry, Martina Müller-Nurasyid, Aliya Naheed, Matthias Nauck, Matthew J Neville, Sune Fallgaard Nielsen, Kari North, Markus Perola, Paul DP Pharoah, Giorgio Pistis, Tinca J Polderman, Danielle Posthuma, Neil Poulter, Beenish Qaiser, Asif Rasheed, Alex Reiner, Frida Renström, John Rice, Rebecca Rohde, Olov Rolandsson, Nilesh J Samani, Maria Samuel, David Schlessinger, Steven H Scholte, Robert A Scott, Peter Sever, Yaming Shao, Nick Shrine, Jennifer A Smith, John M Starr, Kathleen Stirrups, Danielle Stram, Heather M Stringham, Ioanna Tachmazidou, Jean-Claude Tardif, Deborah J Thompson, Hilary A Tindle, Vinicius Tragante, Stella Trompet, Valerie Turcot, Jessica Tyrrell, Ilonca Vaartjes, Andries R van der Leij, Peter van der Meer, Tibor V Varga, Niek Verweij, Henry Völzke, Nicholas J Wareham, Helen R Warren, David R Weir, Stefan Weiss, Leah Wetherill, Hanieh Yaghootkar, Ersin Yavas, Yu Jiang, Fang Chen, Xiaowei Zhan, Weihua Zhang, Wei Zhao, Wei Zhao, Kaixin Zhou, Philippe Amouyel, Stefan Blankenberg, Mark J Caulfield, Rajiv Chowdhury, Francesco Cucca, Ian J Deary, Panos Deloukas, Emanuele Di Angelantonio, Marco Ferrario, Jean Ferrières, Paul W Franks, Tim M Frayling, Philippe Frossard, Ian P Hall, Caroline Hayward, Jan-Håkan Jansson, J Wouter Jukema, Frank Kee, Satu Männistö, Andres Metspalu, Patricia B Munroe, Børge Grønne Nordestgaard, Colin NA Palmer, Veikko Salomaa, Naveed Sattar, Timothy Spector, David Peter Strachan, EPIC-CVD, GSCAN, Consortium for Genetics of Smoking Behaviour, CHD Exome+ consortium Understanding Society Scientific Group, Pim van der Harst, Eleftheria Zeggini, Danish Saleheen, Adam S Butterworth, Louise V Wain, Goncalo R Abecasis, John Danesh, Martin D Tobin, Scott Vrieze, Dajiang J Liu, Joanna MM Howson
Jan 17, 2019
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Nick Shrine, Anna L Guyatt, A Mesut Erzurumluoglu, Victoria E Jackson, Brian D Hobbs, Carl A Melbourne, Chiara Batini, Katherine A Fawcett, Kijoung Song, Phuwanat Sakornsakolpat, Xingnan Li, Ruth Boxall, Nicola F Reeve, Ma'en Obeidat, Jing Hua Zhao, Matthias Wielscher, Stefan Weiss, Katherine A Kentistou, James P Cook, Benjamin B Sun, Jian Zhou, Jennie Hui, Stefan Karrasch, Medea Imboden, Sarah E Harris, Jonathan Marten, Stefan Enroth, Shona M Kerr, Ida Surakka, Veronique Vitart, Terho Lehtimäki, Richard J Allen, Per S Bakke, Terri H Beaty, Eugene R Bleecker, Yohan Bossé, Corry-Anke Brandsma, Zhengming Chen, James D Crapo, John Danesh, Dawn L DeMeo, Frank Dudbridge, Ralf Ewert, Christian Gieger, Amund Gulsvik, Anna L Hansell, Ke Hao, Joshua D Hoffman, John E Hokanson, Georg Homuth, Peter K Joshi, Philippe Joubert, Claudia Langenberg, Xuan Li, Liming Li, Kuang Lin, Lars Lind, Nicholas Locantore, Jian'an Luan, Anubha Mahajan, Joseph C Maranville, Alison Murray, David C Nickle, Richard Packer, Margaret M Parker, Megan L Paynton, David J Porteous, Dmitry Prokopenko, Dandi Qiao, Rajesh Rawal, Heiko Runz, Ian Sayers, Don D Sin, Blair H Smith, María Soler Artigas, David Sparrow, Ruth Tal-Singer, Paul RHJ Timmers, Maarten van den Berge, John C Whittaker, Prescott G Woodruff, Laura M Yerges-Armstrong, Olga G Troyanskaya, Olli T Raitakari, Mika Kähönen, Ozren Polašek, Ulf Gyllensten, Igor Rudan, Ian J Deary, Nicole M Probst-Hensch, Holger Schulz, Alan L James, James F Wilson, Beate Stubbe, Eleftheria Zeggini, Marjo-Riitta Jarvelin, Nick Wareham, Edwin K Silverman, Caroline Hayward, Andrew P Morris, Adam S Butterworth, Robert A Scott, Robin G Walters, Deborah A Meyers, Michael H Cho, David P Strachan, Ian P Hall, Martin D Tobin, Louise V Wain, Understanding Society Scientific Group
Jan 21, 2019
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function...
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.
Naomi Walsh, Han Zhang, Paula L Hyland, Qi Yang, Evelina Mocci, Mingfeng Zhang, Erica J Childs, Irene Collins, Zhaoming Wang, Alan A Arslan, Laura Beane-Freeman, Paige M Bracci, Paul Brennan, Federico Canzian, Eric J Duell, Steven Gallinger, Graham G Giles, Michael Goggins, Gary E Goodman, Phyllis J Goodman, Rayjean J Hung, Charles Kooperberg, Robert C Kurtz, Núria Malats, Loic Lemarchand, Rachel E Neale, Sara H Olson, Ghislaine Scelo, Xiao O Shu, Stephen K Van Den Eeden, Kala Visvanathan, Emily White, Wei Zheng, PanScan and PanC4 consortia, Demetrius Albanes, Gabriella Andreotti, Ana Babic, William R Bamlet, Sonja I Berndt, Ayelet Borgida, Marie-Christine Boutron-Ruault, Lauren Brais, Paul Brennan, Bas Bueno-de-Mesquita, Julie Buring, Kari G Chaffee, Stephen Chanock, Sean Cleary, Michelle Cotterchio, Lenka Foretova, Charles Fuchs, J Michael M Gaziano, Edward Giovannucci, Michael Goggins, Thilo Hackert, Christopher Haiman, Patricia Hartge, Manal Hasan, Kathy J Helzlsouer, Joseph Herman, Ivana Holcatova, Elizabeth A Holly, Robert Hoover, Rayjean J Hung, Vladimir Janout, Eric A Klein, Robert C Kurtz, Daniel Laheru, I-Min Lee, Lingeng Lu, Núria Malats, Satu Mannisto, Roger L Milne, Ann L Oberg, Irene Orlow, Alpa V Patel, Ulrike Peters, Miquel Porta, Francisco X Real, Nathaniel Rothman, Howard D Sesso, Gianluca Severi, Debra Silverman, Oliver Strobel, Malin Sund, Mark D Thornquist, Geoffrey S Tobias, Jean Wactawski-Wende, Nick Wareham, Elisabete Weiderpass, Nicolas Wentzensen, William Wheeler, Herbert Yu, Anne Zeleniuch-Jacquotte, Peter Kraft, Donghui Li, Eric J Jacobs, Gloria M Petersen, Brian M Wolpin, Harvey A Risch, Laufey T Amundadottir, Kai Yu, Alison P Klein, Rachael Z Stolzenberg-Solomon
Feb 04, 2019
Role of Blood Lipids in the Development of Ischemic Stroke and its Subtypes
George Hindy, Gunnar Engström, Susanna C Larsson, Matthew Traylor, Hugh S Markus, Olle Melander, Marju Orho-Melander, Stroke Genetics Network (SiGN)
Jun 21, 2018
BACKGROUND AND PURPOSE: Statin therapy is associated with a lower risk of ischemic stroke supporting a causal role of low-density lipoprotein (LDL) cholesterol. However, more evidence is needed to answer the question whether LDL...
Cholesterol HDL Cholesterol LDL Polymorphism Single Nucleotide stroke Triglycerides Brain Ischemia Causality cerebral small vessel diseases Cholesterol HDL Cholesterol LDL Humans Intracranial Arteriosclerosis Intracranial Embolism Mendelian Randomization Analysis Multivariate Analysis Polymorphism Single Nucleotide stroke Triglycerides
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk
Ingrid Brænne, Lingyao Zeng, Christina Willenborg, Vinicius Tragante, Thorsten Kessler, CARDIoGRAM consortium, CARDIoGRAMplusC4D Consortium, Cristen J Willer, Markku Laakso, Lars Wallentin, Paul W Franks, Veikko Salomaa, Abbas Dehghan, Thomas Meitinger, Nilesh J Samani, Folkert W Asselbergs, Jeanette Erdmann, Heribert Schunkert
Jan 25, 2018
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, J-B Cazier, J Jung, K Mondal, M Parkes, CG Mathew, K Fiedler, DJ McCarthy, WGS500 Consortium, Oxford IBD cohort study investigators, COLORS in IBD group investigators, UK IBD Genetics Consortium, PB Sullivan, A Rodrigues, SPL Travis, C Moore, J Sambrook, WH Ouwehand, DJ Roberts, J Danesh, INTERVAL Study, RK Russell, DC Wilson, JR Kelsen, R Cornall, LA Denson, S Kugathasan, UG Knaus, EG Serra, CA Anderson, RH Duerr, D Pb McGovern, J Cho, F Powrie, V Sw Li, AM Muise, HH Uhlig
Feb 05, 2018
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1...
Animals Child Child Preschool Colon Genes Modifier Genetic Association Studies Genetic Predisposition to Disease Genome Genotype High-Throughput Nucleotide Sequencing Host-Pathogen Interactions Humans Inflammatory Bowel Diseases Male Mice Mice Inbred C57BL Mutation Missense NADPH Oxidase 1 Polymorphism Single Nucleotide Reactive Oxygen Species
Tissue-specific transcriptomes of Anisakis simplex (sensu stricto) and Anisakis pegreffii reveal potential molecular mechanisms involved in pathogenicity.
Serena Cavallero, Fabrizio Lombardo, Xiaopei Su, Marco Salvemini, Cinzia Cantacessi, Stefano D'Amelio
Feb 05, 2018
Background: Larval stages of the sibling species of parasitic nematodes Anisakis simplex sensu stricto (AS) and Anisakis pegreffii (AP) are responsible for a fish-borne zoonosis, known as anisakiasis, that humans acquire via the...
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, International FTD-Genomics Consortium (IFGC), International Parkinson's Disease Genomics Consortium (IPDGC), International Genomics of Alzheimer's Project (IGAP), Parastoo Momeni, Gerard D Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
Feb 06, 2018
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders...
Extent, causes, and consequences of small RNA expression variation in human adipose tissue.
Leopold Parts, Åsa K Hedman, Sarah Keildson, Andrew J Knights, Cei Abreu-Goodger, Martijn van de Bunt, José Afonso Guerra-Assunção, Nenad Bartonicek, Stijn van Dongen, Reedik Mägi, James Nisbet, Amy Barrett, Mattias Rantalainen, Alexandra C Nica, Michael A Quail, Kerrin S Small, Daniel Glass, Anton J Enright, John Winn, MuTHER Consortium, Panos Deloukas, Emmanouil T Dermitzakis, Mark I McCarthy, Timothy D Spector, Richard Durbin, Cecilia M Lindgren
Jan 18, 2018
Small RNAs are functional molecules that modulate mRNA transcripts and have been implicated in the aetiology of several common diseases. However, little is known about the extent of their variability within the human population....
Animals Blood Glucose Body Fat Distribution Body Mass Index Fasting Female Gene Expression Regulation genetic variation Genome-Wide Association Study Genotype High-Throughput Nucleotide Sequencing Humans Insulin MicroRNAs Middle Aged Polymorphism Single Nucleotide RNA Messenger RNA Small Nucleolar RNA Small Untranslated Subcutaneous Fat
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