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Results: 833
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
Insights into Land Plant Evolution Garnered from the Marchantia polymorpha Genome.
John L Bowman, Takayuki Kohchi, Katsuyuki T Yamato, Jerry Jenkins, Shengqiang Shu, Kimitsune Ishizaki, Shohei Yamaoka, Ryuichi Nishihama, Yasukazu Nakamura, Frédéric Berger, Catherine Adam, Shiori Sugamata Aki, Felix Althoff, Takashi Araki, Mario A Arteaga-Vazquez, Sureshkumar Balasubrmanian, Kerrie Barry, Diane Bauer, Christian R Boehm, Liam Briginshaw, Juan Caballero-Perez, Bruno Catarino, Feng Chen, Shota Chiyoda, Mansi Chovatia, Kevin M Davies, Mihails Delmans, Taku Demura, Tom Dierschke, Liam Dolan, Ana E Dorantes-Acosta, D Magnus Eklund, Stevie N Florent, Eduardo Flores-Sandoval, Asao Fujiyama, Hideya Fukuzawa, Bence Galik, Daniel Grimanelli, Jane Grimwood, Ueli Grossniklaus, Takahiro Hamada, Jim Haseloff, Alexander J Hetherington, Asuka Higo, Yuki Hirakawa, Hope N Hundley, Yoko Ikeda, Keisuke Inoue, Shin-Ichiro Inoue, Sakiko Ishida, Qidong Jia, Mitsuru Kakita, Takehiko Kanazawa, Yosuke Kawai, Tomokazu Kawashima, Megan Kennedy, Keita Kinose, Toshinori Kinoshita, Yuji Kohara, Eri Koide, Kenji Komatsu, Sarah Kopischke, Minoru Kubo, Junko Kyozuka, Ulf Lagercrantz, Shih-Shun Lin, Erika Lindquist, Anna M Lipzen, Chia-Wei Lu, Efraín De Luna, Robert A Martienssen, Naoki Minamino, Masaharu Mizutani, Miya Mizutani, Nobuyoshi Mochizuki, Isabel Monte, Rebecca Mosher, Hideki Nagasaki, Hirofumi Nakagami, Satoshi Naramoto, Kazuhiko Nishitani, Misato Ohtani, Takashi Okamoto, Masaki Okumura, Jeremy Phillips, Bernardo Pollak, Anke Reinders, Moritz Rövekamp, Ryosuke Sano, Shinichiro Sawa, Marc W Schmid, Makoto Shirakawa, Roberto Solano, Alexander Spunde, Noriyuki Suetsugu, Sumio Sugano, Akifumi Sugiyama, Rui Sun, Yutaka Suzuki, Mizuki Takenaka, Daisuke Takezawa, Hirokazu Tomogane, Masayuki Tsuzuki, Takashi Ueda, Masaaki Umeda, John M Ward, Yuichiro Watanabe, Kazufumi Yazaki, Ryusuke Yokoyama, Yoshihiro Yoshitake, Izumi Yotsui, Sabine Zachgo, Jeremy Schmutz
Feb 08, 2018
The evolution of land flora transformed the terrestrial environment. Land plants evolved from an ancestral charophycean alga from which they inherited developmental, biochemical, and cell biological attributes. Additional...
Large-scale discovery of novel genetic causes of developmental disorders.
Deciphering Developmental Disorders Study
Feb 01, 2021
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a...
Adolescent Animals Carrier Proteins Child Child Preschool Chromosomal Proteins Non-Histone Chromosome Aberrations DEAD-box RNA Helicases DNA-Binding Proteins Developmental Disabilities Dynamin I Exome Female Gene Expression Regulation Developmental Genes Dominant Genome Human Guanine Nucleotide Exchange Factors Homeodomain Proteins Humans Infant Infant Newborn Male Mutation Missense Nerve Tissue Proteins Nuclear Proteins Parents Phosphoproteins Polycomb Repressive Complex 1 Protein Phosphatase 2 Protein Serine-Threonine Kinases Rare Diseases Repressor Proteins Transcription Factors Transposases United Kingdom Zebrafish
Metagenomic analyses and genetic diversity of Tomato leaf curl Arusha virus affecting tomato plants in Kenya.
Edith Khamonya Avedi, Adedapo Olutola Adediji, Dora Chao Kilalo, Florence Mmogi Olubayo, Isaac Macharia, Elijah Miinda Ateka, Eunice Magoma Machuka, Josiah Musembi Mutuku
Jan 07, 2021
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
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity.
Erik Volz, Verity Hill, John T McCrone, Anna Price, David Jorgensen, Áine O'Toole, Joel Southgate, Robert Johnson, Ben Jackson, Fabricia F Nascimento, Sara M Rey, Samuel M Nicholls, Rachel M Colquhoun, Ana da Silva Filipe, James Shepherd, David J Pascall, Rajiv Shah, Natasha Jesudason, Kathy Li, Ruth Jarrett, Nicole Pacchiarini, Matthew Bull, Lily Geidelberg, Igor Siveroni, COG-UK Consortium, Ian Goodfellow, Nicholas J Loman, Oliver G Pybus, David L Robertson, Emma C Thomson, Andrew Rambaut, Thomas R Connor
Jan 12, 2021
Global dispersal and increasing frequency of the SARS-CoV-2 spike protein variant D614G are suggestive of a selective advantage but may also be due to a random founder effect. We investigate the hypothesis for positive selection...
FlyBase
Aoife Larkin, Steven J Marygold, Giulia Antonazzo, Helen Attrill, Gilberto Dos Santos, Phani V Garapati, Joshua L Goodman, L Sian Gramates, Gillian Millburn, Victor B Strelets, Christopher J Tabone, Jim Thurmond, FlyBase Consortium
Oct 20, 2020
FlyBase (flybase.org) is an essential online database for researchers using Drosophila melanogaster as a model organism, facilitating access to a diverse array of information that includes genetic, molecular, genomic and reagent...
Phylogenomics of Mycobacterium africanum reveals a new lineage and a complex evolutionary history.
Mireia Coscolla, Sebastien Gagneux, Fabrizio Menardo, Chloé Loiseau, Paula Ruiz-Rodriguez, Sonia Borrell, Isaac Darko Otchere, Adwoa Asante-Poku, Prince Asare, Leonor Sánchez-Busó, Florian Gehre, C N'Dira Sanoussi, Martin Antonio, Dissou Affolabi, Janet Fyfe, Patrick Beckert, Stefan Niemann, Abraham S Alabi, Martin P Grobusch, Robin Kobbe, Julian Parkhill, Christian Beisel, Lukas Fenner, Erik C Böttger, Conor J Meehan, Simon R Harris, Bouke C de Jong, Dorothy Yeboah-Manu, Daniela Brites
Feb 17, 2021
Human tuberculosis (TB) is caused by members of the Mycobacterium tuberculosis complex (MTBC). The MTBC comprises several human-adapted lineages known as M. tuberculosis sensu stricto, as well as two lineages (L5 and L6)...
Mycobacterium africanum Mycobacterium tuberculosis Diversity evolution Genome Mycobacteria Africa Eastern Africa Western Drug Resistance Bacterial evolution Molecular Genome Bacterial High-Throughput Nucleotide Sequencing Humans Mycobacterium tuberculosis Phylogeny Phylogeography Tuberculosis whole genome sequencing
Genomic footprints of activated telomere maintenance mechanisms in cancer.
Lina Sieverling, Chen Hong, Sandra D Koser, Philip Ginsbach, Kortine Kleinheinz, Barbara Hutter, Delia M Braun, Isidro Cortés-Ciriano, Ruibin Xi, Rolf Kabbe, Peter J Park, Roland Eils, Matthias Schlesner, PCAWG-Structural Variation Working Group, Benedikt Brors, Karsten Rippe, David TW Jones, Lars Feuerbach, PCAWG Consortium
Mar 05, 2021
Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ICGC/TCGA...
Phylogeographical analysis of the dominant multidrug-resistant H58 clade of Salmonella Typhi identifies inter- and intracontinental transmission events.
Vanessa K Wong, Stephen Baker, Derek J Pickard, Julian Parkhill, Andrew J Page, Nicholas A Feasey, Robert A Kingsley, Nicholas R Thomson, Jacqueline A Keane, François-Xavier Weill, David J Edwards, Jane Hawkey, Simon R Harris, Alison E Mather, Amy K Cain, James Hadfield, Peter J Hart, Nga Tran Vu Thieu, Elizabeth J Klemm, Dafni A Glinos, Robert F Breiman, Conall H Watson, Samuel Kariuki, Melita A Gordon, Robert S Heyderman, Chinyere Okoro, Jan Jacobs, Octavie Lunguya, W John Edmunds, Chisomo Msefula, Jose A Chabalgoity, Mike Kama, Kylie Jenkins, Shanta Dutta, Florian Marks, Josefina Campos, Corinne Thompson, Stephen Obaro, Calman A MacLennan, Christiane Dolecek, Karen H Keddy, Anthony M Smith, Christopher M Parry, Abhilasha Karkey, E Kim Mulholland, James I Campbell, Sabina Dongol, Buddha Basnyat, Muriel Dufour, Don Bandaranayake, Take Toleafoa Naseri, Shalini Pravin Singh, Mochammad Hatta, Paul Newton, Robert S Onsare, Lupeoletalalei Isaia, David Dance, Viengmon Davong, Guy Thwaites, Lalith Wijedoru, John A Crump, Elizabeth de Pinna, Satheesh Nair, Eric J Nilles, Duy Pham Thanh, Paul Turner, Sona Soeng, Mary Valcanis, Joan Powling, Karolina Dimovski, Geoff Hogg, Jeremy Farrar, Kathryn E Holt, Gordon Dougan
Jan 08, 2020
The emergence of multidrug-resistant (MDR) typhoid is a major global health threat affecting many countries where the disease is endemic. Here whole-genome sequence analysis of 1,832 Salmonella enterica serovar Typhi (S. Typhi)...
Interacting Genomic Landscapes of REC8-Cohesin, Chromatin, and Meiotic Recombination in Arabidopsis.
Christophe Lambing, Andrew J Tock, Stephanie D Topp, Kyuha Choi, Pallas C Kuo, Xiaohui Zhao, Kim Osman, James D Higgins, F Chris H Franklin, Ian R Henderson
Jan 13, 2020
Arabidopsis Arabidopsis Proteins Cell Cycle Proteins Chromatin Chromosomal Proteins Non-Histone Chromosomes Plant Crossing Over Genetic DNA Methylation DNA Transposable Elements Genome Plant Heterochromatin homologous recombination Meiosis Mutation Nucleosomes Saccharomyces cerevisiae Schizosaccharomyces SUPPRESSION Genetic
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti, Archie Campbell, Shona M Kerr, Marc Tischkowitz, Sarah E Hunt, Malcolm G Dunlop, Matthew E Hurles, Caroline F Wright, Helen V Firth, Fiona Cunningham, David R FitzPatrick
Feb 07, 2020
We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P ( www.ebi.ac.uk/gene2phenotype ) as an online...
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
Genetic Variation in Complex Traits in Transgenic α-Synuclein Strains of Caenorhabditis elegans.
Different genetic backgrounds can modify the effect of mutated genes. Human α-synuclein (SNCA) gene encodes α-synuclein, and its oligomeric complexes accumulate with age and mediate the disruption of cellular homeostasis...
C. elegans Genetic background protein accumulation α-synuclein Animals Animals Genetically Modified Bacterial Proteins Body Size Caenorhabditis elegans Disease Models Animal Gene Expression Regulation genetic variation Genome Humans Luminescent Proteins Lysosomes Multifactorial Inheritance Parkinson Disease Transcription Genetic ALPHA-SYNUCLEIN
Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes
Robert W. Koivula, Ian M. Forgie, Azra Kurbasic, Ana Viñuela, Alison Heggie, Giuseppe N. Giordano, Tue H. Hansen, Michelle Hudson, Anitra D. M. Koopman, Femke Rutters, Maritta Siloaho, Kristine H. Allin, Søren Brage, Caroline A. Brorsson, Adem Y. Dawed, Federico De Masi, Christopher J. Groves, Tarja Kokkola, Anubha Mahajan, Mandy H. Perry, Simone P. Rauh, Martin Ridderstråle, Harriet J. A. Teare, E. Louise Thomas, Andrea Tura, Henrik Vestergaard, Tom White, Jerzy Adamski, Jimmy D. Bell, Joline W. Beulens, Søren Brunak, Emmanouil T. Dermitzakis, Philippe Froguel, Gary Frost, Ramneek Gupta, Torben Hansen, Andrew Hattersley, Bernd Jablonka, Jane Kaye, Markku Laakso, Timothy J. McDonald, Oluf Pedersen, Jochen M. Schwenk, Imre Pavo, Andrea Mari, Mark I. McCarthy, Hartmut Ruetten, Mark Walker, Ewan Pearson, Paul W. Franks
Jun 15, 2020
Abstract: Aims/hypothesis: Here, we describe the characteristics of the Innovative Medicines Initiative (IMI) Diabetes Research on Patient Stratification (DIRECT) epidemiological cohorts at baseline and follow-up examinations...
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
Pan-genomic perspective on the evolution of the Staphylococcus aureus USA300 epidemic.
Dorota M Jamrozy, Simon R Harris, Naglaa Mohamed, Sharon J Peacock, Charles Y Tan, Julian Parkhill, Annaliesa S Anderson, Matthew TG Holden
Sep 06, 2019
Staphylococcus aureus USA300 represents the dominant community-associated methicillin-resistant S. aureus lineage in the USA, where it is a major cause of skin and soft tissue infections. Previous comparative genomic studies...
evolution MRSA USA300 Adolescent Adult Aged Aged 80 and over Child Child Preschool Community-Acquired Infections evolution Molecular Genome Bacterial Humans Infant Methicillin-Resistant Staphylococcus aureus Middle Aged molecular epidemiology Phylogeny Staphylococcal Infections United States whole genome sequencing Young Adult
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
Genome-wide Estrogen Receptor-α activation is sustained, not cyclical.
Estrogen Receptor-alpha (ER) drives 75% of breast cancers. Stimulation of the ER by estra-2-diol forms a transcriptionally-active chromatin-bound complex. Previous studies reported that ER binding follows a cyclical pattern....
Estrogen estrogen receptor MCF7 Breast Cancer Chromosomes Computational Biology endocrine Gene Expression human Systems Biology Base Sequence Binding Sites Estradiol Estrogen Receptor alpha Female Gene Expression Regulation Neoplastic Genome Human Genome-Wide Association Study Humans MCF-7 Cells Neoplasm Proteins Promoter Regions Genetic Protein Binding Receptors CXCR Signal Transduction Sorting Nexins Trefoil Factor-1
CTCF maintains regulatory homeostasis of cancer pathways.
Sarah J Aitken, Ximena Ibarra-Soria, Elissavet Kentepozidou, Paul Flicek, Christine Feig, John C Marioni, Duncan T Odom
Sep 20, 2018
CTCF Cancer Chromatin architecture chromatin state Hemizygosity Transcription Animals Breast Neoplasms CCCTC-Binding Factor Cell Line Chromatin DNA Neoplasm Enhancer Elements Genetic Female FIBROBLASTS Gene Expression Regulation Neoplastic Genome Hemizygote Homeostasis Humans Liver Neoplasms Experimental Mice Mice Inbred C57BL Mice Transgenic Protein Binding Signal Transduction Uterine Neoplasms
Gene exchange drives the ecological success of a multi-host bacterial pathogen.
Emily J Richardson, Rodrigo Bacigalupe, Ewan M Harrison, Lucy A Weinert, Samantha Lycett, Manouk Vrieling, Kirsty Robb, Paul A Hoskisson, Matthew TG Holden, Edward J Feil, Gavin K Paterson, Steven YC Tong, Adebayo Shittu, Willem van Wamel, David M Aanensen, Julian Parkhill, Sharon J Peacock, Jukka Corander, Mark Holmes, J Ross Fitzgerald
Sep 29, 2018
The capacity for some pathogens to jump into different host-species populations is a major threat to public health and food security. Staphylococcus aureus is a multi-host bacterial pathogen responsible for important human and...
Targeted DamID reveals differential binding of mammalian pluripotency factors.
Seth W Cheetham, Wolfram H Gruhn, Jelle van den Ameele, Robert Krautz, Tony D Southall, Toshihiro Kobayashi, M Azim Surani, Andrea H Brand
Oct 03, 2018
The precise control of gene expression by transcription factor networks is crucial to organismal development. The predominant approach for mapping transcription factor-chromatin interactions has been chromatin...
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...
Wave 2 strains of atypical Vibrio cholerae El Tor caused the 2009-2011 cholera outbreak in Papua New Guinea.
Andrew R Greenhill, Ankur Mutreja, Dieter Bulach, Matthew J Belousoff, Marinjho H Jonduo, Deirdre A Collins, Monalisa P Kas, Johanna Wapling, Torsten Seemann, Alice Lafana, Gordon Dougan, Mark V Brown, Paul F Horwood
Mar 11, 2019
Vibrio cholerae is the causative agent of cholera, a globally important human disease for at least 200 years. In 2009-2011, the first recorded cholera outbreak in Papua New Guinea (PNG) occurred. We conducted genetic and...
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
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