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Results: 811
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
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...
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
Human genetics of leishmania infections.
Identifying genetic risk factors for parasitic infections such as the leishmaniases could provide important leads for improved therapies and vaccines. Until recently most genetic studies of human leishmaniasis were underpowered...
European polygenic risk score for prediction of breast cancer shows similar performance in Asian women.
Weang-Kee Ho, Min-Min Tan, Nasim Mavaddat, Mei-Chee Tai, Shivaani Mariapun, Jingmei Li, Peh-Joo Ho, Joe Dennis, Jonathan P Tyrer, Manjeet K Bolla, Kyriaki Michailidou, Qin Wang, Daehee Kang, Ji-Yeob Choi, Suniza Jamaris, Xiao-Ou Shu, Sook-Yee Yoon, Sue K Park, Sung-Won Kim, Chen-Yang Shen, Jyh-Cherng Yu, Ern Yu Tan, Patrick Mun Yew Chan, Kenneth Muir, Artitaya Lophatananon, Anna H Wu, Daniel O Stram, Keitaro Matsuo, Hidemi Ito, Ching Wan Chan, Joanne Ngeow, Wei Sean Yong, Swee Ho Lim, Geok Hoon Lim, Ava Kwong, Tsun L Chan, Su Ming Tan, Jaime Seah, Esther M John, Allison W Kurian, Woon-Puay Koh, Chiea Chuen Khor, Motoki Iwasaki, Taiki Yamaji, Kiak Mien Veronique Tan, Kiat Tee Benita Tan, John J Spinelli, Kristan J Aronson, Siti Norhidayu Hasan, Kartini Rahmat, Anushya Vijayananthan, Xueling Sim, Paul DP Pharoah, Wei Zheng, Alison M Dunning, Jacques Simard, Rob Martinus van Dam, Cheng-Har Yip, Nur Aishah Mohd Taib, Mikael Hartman, Douglas F Easton, Soo-Hwang Teo, Antonis C Antoniou
Sep 09, 2020
Polygenic risk scores (PRS) have been shown to predict breast cancer risk in European women, but their utility in Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry women using data from...
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, Inga Prokopenko, Christopher J Rhodes, On Behalf Of The Nihr BioResource-Rare Diseases Consortium, UK PAH Cohort Study Consortium
Jan 08, 2021
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome
Genetic Variation in Sodium-glucose Cotransporter 2 and Heart Failure.
Julius L Katzmann, Amy M Mason, Winfried März, Marcus E Kleber, Alexander Niessner, Matthias Blüher, Thimoteus Speer, Ulrich Laufs
Dec 11, 2020
Associations between paternally transmitted fetal IGF2 variants and maternal circulating glucose concentrations in pregnancy.
Clive J Petry, Rachel V Seear, Dianne L Wingate, Lucy Manico, Carlo L Acerini, Ken K Ong, Ieuan A Hughes, David B Dunger
Feb 21, 2020
OBJECTIVE: To test the hypothesis that polymorphic variation in the paternally transmitted fetal IGF2 gene is associated with maternal glucose concentrations in the third trimester of pregnancy. RESEARCH DESIGN AND METHODS: A...
Adult Alleles Blood Glucose Cohort Studies Female Genetic Association Studies Glucose Humans Hyperglycemia Infant Newborn Insulin-Like Growth Factor II Male Placenta Polymorphism Single Nucleotide Pregnancy Pregnancy Complications Pregnancy Proteins Pregnancy Trimester Third Prospective Studies Retrospective Studies Sexual Partners United Kingdom
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Adrienne Tin, Jonathan Marten, Victoria L Halperin Kuhns, Yong Li, Matthias Wuttke, Holger Kirsten, Karsten B Sieber, Chengxiang Qiu, Mathias Gorski, Zhi Yu, Ayush Giri, Gardar Sveinbjornsson, Man Li, Audrey Y Chu, Anselm Hoppmann, Luke J O'Connor, Bram Prins, Teresa Nutile, Damia Noce, Masato Akiyama, Massimiliano Cocca, Sahar Ghasemi, Peter J van der Most, Katrin Horn, Yizhe Xu, Christian Fuchsberger, Sanaz Sedaghat, Saima Afaq, Najaf Amin, Johan Ärnlöv, Stephan JL Bakker, Nisha Bansal, Daniela Baptista, Sven Bergmann, Mary L Biggs, Ginevra Biino, Eric Boerwinkle, Erwin P Bottinger, Thibaud S Boutin, Marco Brumat, Ralph Burkhardt, Eric Campana, Archie Campbell, Harry Campbell, Robert J Carroll, Eulalia Catamo, John C Chambers, Marina Ciullo, Maria Pina Concas, Josef Coresh, Tanguy Corre, Daniele Cusi, Sala Cinzia Felicita, Martin H de Borst, Alessandro De Grandi, Renée de Mutsert, Aiko PJ de Vries, Graciela Delgado, Ayşe Demirkan, Olivier Devuyst, Katalin Dittrich, Kai-Uwe Eckardt, Georg Ehret, Karlhans Endlich, Michele K Evans, Ron T Gansevoort, Paolo Gasparini, Vilmantas Giedraitis, Christian Gieger, Giorgia Girotto, Martin Gögele, Scott D Gordon, Daniel F Gudbjartsson, Vilmundur Gudnason, German Chronic Kidney Disease Study, Toomas Haller, Pavel Hamet, Tamara B Harris, Caroline Hayward, Andrew A Hicks, Edith Hofer, Hilma Holm, Wei Huang, Nina Hutri-Kähönen, Shih-Jen Hwang, M Arfan Ikram, Raychel M Lewis, Erik Ingelsson, Johanna Jakobsdottir, Ingileif Jonsdottir, Helgi Jonsson, Peter K Joshi, Navya Shilpa Josyula, Bettina Jung, Mika Kähönen, Yoichiro Kamatani, Masahiro Kanai, Shona M Kerr, Wieland Kiess, Marcus E Kleber, Wolfgang Koenig, Jaspal S Kooner, Antje Körner, Peter Kovacs, Bernhard K Krämer, Florian Kronenberg, Michiaki Kubo, Brigitte Kühnel, Martina La Bianca, Leslie A Lange, Benjamin Lehne, Terho Lehtimäki, Lifelines Cohort Study, Jun Liu, Markus Loeffler, Ruth JF Loos, Leo-Pekka Lyytikäinen, Reedik Magi, Anubha Mahajan, Nicholas G Martin, Winfried März, Deborah Mascalzoni, Koichi Matsuda, Christa Meisinger, Thomas Meitinger, Andres Metspalu, Yuri Milaneschi, V. A. Million Veteran Program, Christopher J O'Donnell, Otis D Wilson, J Michael Gaziano, Pashupati P Mishra, Karen L Mohlke, Nina Mononen, Grant W Montgomery, Dennis O Mook-Kanamori, Martina Müller-Nurasyid, Girish N Nadkarni, Mike A Nalls, Matthias Nauck, Kjell Nikus, Boting Ning, Ilja M Nolte, Raymond Noordam, Jeffrey R O'Connell, Isleifur Olafsson, Sandosh Padmanabhan, Brenda WJH Penninx, Thomas Perls, Annette Peters, Mario Pirastu, Nicola Pirastu, Giorgio Pistis, Ozren Polasek, Belen Ponte, David J Porteous, Tanja Poulain, Michael H Preuss, Ton J Rabelink, Laura M Raffield, Olli T Raitakari, Rainer Rettig, Myriam Rheinberger, Kenneth M Rice, Federica Rizzi, Antonietta Robino, Igor Rudan, Alena Krajcoviechova, Renata Cifkova, Rico Rueedi, Daniela Ruggiero, Kathleen A Ryan, Yasaman Saba, Erika Salvi, Helena Schmidt, Reinhold Schmidt, Christian M Shaffer, Albert V Smith, Blair H Smith, Cassandra N Spracklen, Konstantin Strauch, Michael Stumvoll, Patrick Sulem, Salman M Tajuddin, Andrej Teren, Joachim Thiery, Chris HL Thio, Unnur Thorsteinsdottir, Daniela Toniolo, Anke Tönjes, Johanne Tremblay, André G Uitterlinden, Simona Vaccargiu, Pim van der Harst, Cornelia M van Duijn, Niek Verweij, Uwe Völker, Peter Vollenweider, Gerard Waeber, Melanie Waldenberger, John B Whitfield, Sarah H Wild, James F Wilson, Qiong Yang, Weihua Zhang, Alan B Zonderman, Murielle Bochud, James G Wilson, Sarah A Pendergrass, Kevin Ho, Afshin Parsa, Peter P Pramstaller, Bruce M Psaty, Carsten A Böger, Harold Snieder, Adam S Butterworth, Yukinori Okada, Todd L Edwards, Kari Stefansson, Katalin Susztak, Markus Scholz, Iris M Heid, Adriana M Hung, Alexander Teumer, Cristian Pattaro, Owen M Woodward, Veronique Vitart, Anna Köttgen
Oct 17, 2019
ATP Binding Cassette Transporter Subfamily G Member 2 Cardiovascular Diseases Cohort Studies Genetic Loci Genetic Markers Genetic Predisposition to Disease Genome-Wide Association Study gout Hepatocyte Nuclear Factor 1-alpha Hepatocyte Nuclear Factor 4 Humans Kidney Liver Metabolic Diseases Neoplasm Proteins Organ Specificity Polymorphism Single Nucleotide Signal Transduction Uric Acid
Improved characterisation of MRSA transmission using within-host bacterial sequence diversity.
Matthew D Hall, Matthew TG Holden, Pramot Srisomang, Weera Mahavanakul, Vanaporn Wuthiekanun, Direk Limmathurotsakul, Kay Fountain, Julian Parkhill, Emma K Nickerson, Sharon J Peacock, Christophe Fraser
Nov 04, 2019
MRSA EPIDEMIOLOGY Global Health hospital infections human molecular epidemiology Adult Child Computational Biology Cross Infection DNA Bacterial Disease Outbreaks genetic variation Genome Bacterial Humans Methicillin-Resistant Staphylococcus aureus Phylogeny Polymorphism Single Nucleotide Staphylococcal Infections Thailand whole genome sequencing
Lipoprotein(a) in Alzheimer, Atherosclerotic, Cerebrovascular, Thrombotic, and Valvular Disease
Susanna C Larsson, Dipender Gill, Amy M Mason, Tao Jiang, Magnus Bäck, Adam S Butterworth, Stephen Burgess
Jun 19, 2020
Alzheimer Disease Mendelian Randomization Analysis Atherosclerosis Heart Valve Diseases lipoprotein(a) stroke Alzheimer Disease Causality Cerebrovascular Disorders Coronary Disease Dementia Vascular Heart Valve Diseases Humans lipoprotein(a) Mendelian Randomization Analysis Odds Ratio Polymorphism Single Nucleotide Thrombosis White People
Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose.
Peitao Wu, Denis Rybin, Lawrence F Bielak, Mary F Feitosa, Nora Franceschini, Yize Li, Yingchang Lu, Jonathan Marten, Solomon K Musani, Raymond Noordam, Sridharan Raghavan, Lynda M Rose, Karen Schwander, Albert V Smith, Salman M Tajuddin, Dina Vojinovic, Najaf Amin, Donna K Arnett, Erwin P Bottinger, Ayse Demirkan, Jose C Florez, Mohsen Ghanbari, Tamara B Harris, Lenore J Launer, Jingmin Liu, Jun Liu, Dennis O Mook-Kanamori, Alison D Murray, Mike A Nalls, Patricia A Peyser, André G Uitterlinden, Trudy Voortman, Claude Bouchard, Daniel Chasman, Adolfo Correa, Renée de Mutsert, Michele K Evans, Vilmundur Gudnason, Caroline Hayward, Linda Kao, Sharon LR Kardia, Charles Kooperberg, Ruth JF Loos, Michael M Province, Tuomo Rankinen, Susan Redline, Paul M Ridker, Jerome I Rotter, David Siscovick, Blair H Smith, Cornelia van Duijn, Alan B Zonderman, DC Rao, James G Wilson, Josée Dupuis, James B Meigs, Ching-Ti Liu, Jason L Vassy
Jun 01, 2020
Smoking is a potentially causal behavioral risk factor for type 2 diabetes (T2D), but not all smokers develop T2D. It is unknown whether genetic factors partially explain this variation. We performed genome-environment-wide...
Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels.
Michael D Morgan, Etienne Patin, Bernd Jagla, Milena Hasan, Lluís Quintana-Murci, John C Marioni
Mar 12, 2020
Souporcell
Haynes Heaton, Arthur M Talman, Andrew Knights, Maria Imaz, Daniel J Gaffney, Richard Durbin, Martin Hemberg, Mara Kn Lawniczak
Apr 01, 2020
Adjustment for index event bias in genome-wide association studies of subsequent events.
Frank Dudbridge, Richard J Allen, Nuala A Sheehan, A Floriaan Schmidt, James C Lee, R Gisli Jenkins, Louise V Wain, Aroon D Hingorani, Riyaz S Patel
May 13, 2019
Following numerous genome-wide association studies of disease susceptibility, there is increasing interest in genetic associations with prognosis, survival or other subsequent events. Such associations are vulnerable to index...
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
Emily Baker, Rebecca Sims, Ganna Leonenko, Aura Frizzati, Janet C Harwood, Detelina Grozeva, GERAD/PERADES, CHARGE, ADGC, EADI, IGAP consortia, Kevin Morgan, Peter Passmore, Clive Holmes, John Powell, Carol Brayne, Michael Gill, Simon Mead, Paola Bossù, Gianfranco Spalletta, Alison M Goate, Carlos Cruchaga, Wolfgang Maier, Reinhard Heun, Frank Jessen, Oliver Peters, Martin Dichgans, Lutz Frölich, Alfredo Ramirez, Lesley Jones, John Hardy, Dobril Ivanov, Matthew Hill, Peter Holmans, Nicholas D Allen, B Paul Morgan, Sudha Seshadri, Gerard D Schellenberg, Philippe Amouyel, Julie Williams, Valentina Escott-Price
Aug 21, 2019
Late onset Alzheimer's disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is to identify novel genes associated with Alzheimer's disease using the...
Alzheimer Disease Amyloid beta-Peptides Centrosome Cholesterol Circadian Rhythm DNA Damage DNA Repair Energy Metabolism Female Genome Human Genome-Wide Association Study Humans Inflammation Male Nuclear Receptor Subfamily 1 Group F Member 1 Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha Polymorphism Single Nucleotide Proteins
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.
The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods...
CHiCAGO
Jonathan Cairns, Paula Freire-Pritchett, Steven W Wingett, Csilla Várnai, Andrew Dimond, Vincent Plagnol, Daniel Zerbino, Stefan Schoenfelder, Biola-Maria Javierre, Cameron Osborne, Peter Fraser, Mikhail Spivakov
Jul 15, 2019
Capture Hi-C (CHi-C) is a method for profiling chromosomal interactions involving targeted regions of interest, such as gene promoters, globally and at high resolution. Signal detection in CHi-C data involves a number of...
Stochastic search and joint fine-mapping increases accuracy and identifies previously unreported associations in immune-mediated diseases.
Jennifer L Asimit, Daniel B Rainbow, Mary D Fortune, Nastasiya F Grinberg, Linda S Wicker, Chris Wallace
Jul 17, 2019
Alleles Autoimmunity Bayes Theorem CD4-Positive T-Lymphocytes CTLA-4 Antigen Chromosome Mapping Gene Expression Regulation Genetic Association Studies Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Interleukin-2 Receptor alpha Subunit Linkage Disequilibrium Models Genetic Phenotype Polymorphism Single Nucleotide
Interleukin-18 as a drug repositioning opportunity for inflammatory bowel disease
Lauren E Mokry, Sirui Zhou, Cong Guo, Robert A Scott, Luke Devey, Claudia Langenberg, Nick Wareham, Dawn Waterworth, Lon Cardon, Philippe Sanseau, George Davey Smith, J Brent Richards
Jul 23, 2019
Support from human genetics increases the probability of success in drug development. However, few examples exist of successful genomically-driven drug repositioning. Given that a Mendelian form of severe enterocolitis is due to...
Alleles Anti-Inflammatory Agents Non-Steroidal Biomarkers Drug Repositioning Genetic Predisposition to Disease Humans Inflammatory Bowel Diseases Interleukin-18 Mendelian Randomization Analysis Odds Ratio Polymorphism Single Nucleotide Receptors Interleukin-18 Severity of Illness Index Treatment Outcome
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
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