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Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.
Carolyn D Hurst, Olivia Alder, Fiona M Platt, Alastair Droop, Lucy F Stead, Julie E Burns, George J Burghel, Sunjay Jain, Leszek J Klimczak, Helen Lindsay, Jo-An Roulson, Claire F Taylor, Helene Thygesen, Angus J Cameron, Anne J Ridley, Helen R Mott, Dmitry A Gordenin, Margaret A Knowles
Feb 08, 2018
Bladder cancer incurs a higher lifetime treatment cost than other cancers due to frequent recurrence of non-invasive disease. Improved prognostic biomarkers and localized therapy are needed for this large patient group. We...
KDM6A RHOB bladder cancer Gender Genomics mTORC1 metabolism recurrence-free survival subtypes Carcinoma Transitional Cell Cell Line Tumor Female Gene Expression Profiling Gene Expression Regulation Neoplastic Gene Frequency Genomics HEK293 Cells Histone Demethylases Humans Male Metabolome Metabolomics Mutation Nuclear Proteins Sex Factors Urinary Bladder Neoplasms
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
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
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Laura M Huckins, Vesna Boraska, Christopher S Franklin, James AB Floyd, Lorraine Southam, GCAN, WTCCC3, Patrick F Sullivan, Cynthia M Bulik, David A Collier, Chris Tyler-Smith, Eleftheria Zeggini, Ioanna Tachmazidou, GCAN, WTCCC3
Nov 17, 2017
The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip. We compared methods for...
Variant rs10911021 that associates with coronary heart disease in type 2 diabetes, is associated with lower concentrations of circulating HDL cholesterol and large HDL particles but not with amino acids.
Katherine E Beaney, Jackie A Cooper, Stela McLachlan, S Goya Wannamethee, Barbara J Jefferis, Peter Whincup, Yoav Ben-Shlomo, Jacqueline F Price, Meena Kumari, Andrew Wong, Ken Ong, Rebecca Hardy, Diana Kuh, Mika Kivimaki, Antti J Kangas, Pasi Soininen, Mika Ala-Korpela, Fotios Drenos, Steve E Humphries, UCLEB Consortium
Sep 29, 2016
AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD) in type 2 diabetes (T2D). Using data from the UCLEB consortium we investigated the relationship between...
coronary heart disease genetic risk HDL-cholesterol Metabolomics Aged Amino Acids Biomarkers Cholesterol HDL Chromosomes Human Pair 1 Coronary Disease DNA Intergenic Diabetes mellitus Type 2 Down-Regulation Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease High-Throughput Screening Assays Humans Magnetic Resonance Spectroscopy Male Metabolomics Middle Aged Particle Size Phenotype Polymorphism Single Nucleotide Protective factors Risk Assessment Risk Factors
Genetic variants in PPARGC1B and CNTN4 are associated with thromboxane A2 formation and with cardiovascular event free survival in the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT).
Nina S McCarthy, Ciara Vangjeli, Praveen Surendran, Achim Treumann, Cathy Rooney, Emily Ho, Peter Sever, Simon Thom, Alun D Hughes, Patricia B Munroe, Philip Howard, Toby Johnson, Mark Caulfield, Denis C Shields, Eoin O'Brien, Desmond J Fitzgerald, Alice V Stanton
Mar 16, 2018
BACKGROUND AND AIMS: Elevated urinary 11-dehydro thromboxane B2 (TxB2), a measure of thromboxane A2 formation in vivo, predicts future atherothrombotic events. To further understand this relationship, the genetic determinants of...
Genome wide association study Thrombosis Thromboxane Aged Aspirin Cardiovascular Agents Cardiovascular Diseases Carrier Proteins Contactins Europe Female Gene Frequency Genetic Markers Genetic Predisposition to Disease Genome-Wide Association Study Haplotypes Humans Incidence Male Middle Aged Multicenter Studies as Topic Phenotype Polymorphism Single Nucleotide Primary Prevention Progression-Free Survival RNA-Binding Proteins Randomized Controlled Trials as Topic Risk Factors Thromboxane A2 Thromboxane B2 Time Factors White People
Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.
Tanya M Teslovich, Daniel Seung Kim, Xianyong Yin, Alena Stancáková, Anne U Jackson, Matthias Wielscher, Adam Naj, John RB Perry, Jeroen R Huyghe, Heather M Stringham, James P Davis, Chelsea K Raulerson, Ryan P Welch, Christian Fuchsberger, Adam E Locke, Xueling Sim, Peter S Chines, Narisu Narisu, Antti J Kangas, Pasi Soininen, The Alzheimer's Disease Genetics Consortium (ADGC), The DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Genetics of Obesity-Related Liver Disease Consortium (GOLD), Mika Ala-Korpela, Vilmundur Gudnason, Solomon K Musani, Marjo-Riitta Jarvelin, Gerard D Schellenberg, Elizabeth K Speliotes, Johanna Kuusisto, Francis S Collins, Michael Boehnke, Markku Laakso, Karen L Mohlke
Oct 01, 2018
Comprehensive metabolite profiling captures many highly heritable traits, including amino acid levels, which are potentially sensitive biomarkers for disease pathogenesis. To better understand the contribution of genetic...
Mutational Analysis Identifies Therapeutic Biomarkers in Inflammatory Bowel Disease-Associated Colorectal Cancers.
Shahida Din, Kim Wong, Mike F Mueller, Anca Oniscu, James Hewinson, Catherine J Black, Martin L Miller, Alejandro Jiménez-Sánchez, Roy Rabbie, Mamunar Rashid, Jack Satsangi, David J Adams, Mark J Arends
Nov 06, 2018
Purpose: Inflammatory bowel disease-associated colorectal cancers (IBD-CRC) are associated with a higher mortality than sporadic colorectal cancers. The poorly defined molecular pathogenesis of IBD-CRCs limits development of...
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead, Allan Richards
May 13, 2013
Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index.
Allan Gurtan, John Dominy, Shareef Khalid, Linh Vong, Shari Caplan, Treeve Currie, Sean Richards, Lindsey Lamarche, Daniel Denning, Diana Shpektor, Anastasia Gurinovich, Asif Rasheed, Shahid Hameed, Subhan Saeed, Imran Saleem, Anjum Jalal, Shahid Abbas, Raffat Sultana, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Nabi Shah, Mohammad Ishaq, Amit V Khera, John Danesh, Philippe Frossard, Danish Saleheen
May 09, 2022
Novel drug targets for sustained reduction in body mass index (BMI) are needed to curb the epidemic of obesity, which affects 650 million individuals worldwide and is a causal driver of cardiovascular and metabolic disease and...
Common NOTCH3 Variants and Cerebral Small-Vessel Disease.
Loes CA Rutten-Jacobs, Matthew Traylor, Poneh Adib-Samii, Vincent Thijs, Cathie Sudlow, Peter M Rothwell, Giorgio Boncoraglio, Martin Dichgans, Steve Bevan, James Meschia, Christopher Levi, Natalia S Rost, Jonathan Rosand, Ahamad Hassan, Hugh S Markus
Jun 03, 2015
Inferring structural variant cancer cell fraction.
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, PCAWG Evolution and Heterogeneity Working Group, Niall M Corcoran, Tony Papenfuss, Christopher M Hovens, Florian Markowetz, Geoff Macintyre, PCAWG Consortium
Dec 18, 2019
We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV...
Regional TMPRSS2 V197M Allele Frequencies Are Correlated with COVID-19 Case Fatality Rates.
Sungwon Jeon, Asta Blazyte, Changhan Yoon, Hyojung Ryu, Yeonsu Jeon, Youngjune Bhak, Dan Bolser, Andrea Manica, Eun-Seok Shin, Yun Sung Cho, Byung Chul Kim, Namhee Ryoo, Hansol Choi, Jong Bhak
Nov 09, 2021
Coronavirus disease, COVID-19 (coronavirus disease 2019), caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), has a higher case fatality rate in European countries than in others, especially East Asian ones....
Genetic associations of protein-coding variants in human disease.
Benjamin B Sun, Mitja I Kurki, Christopher N Foley, Asma Mechakra, Chia-Yen Chen, Eric Marshall, Jemma B Wilk, Biogen Biobank Team, Mohamed Chahine, Philippe Chevalier, Georges Christé, FinnGen, Aarno Palotie, Mark J Daly, Heiko Runz
Mar 02, 2022
Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained largely underpowered in relation to identifying associations in the...
Metabolic basis to Sherpa altitude adaptation.
James A Horscroft, Aleksandra O Kotwica, Verena Laner, James A West, Philip J Hennis, Denny ZH Levett, David J Howard, Bernadette O Fernandez, Sarah L Burgess, Zsuzsanna Ament, Edward T Gilbert-Kawai, André Vercueil, Blaine D Landis, Kay Mitchell, Monty G Mythen, Cristina Branco, Randall S Johnson, Martin Feelisch, Hugh E Montgomery, Julian L Griffin, Michael PW Grocott, Erich Gnaiger, Daniel S Martin, Andrew J Murray
May 16, 2017
Altitude Hypoxia metabolism Mitochondria Skeletal muscle Adaptation Physiological Adult Altitude Atmospheric Pressure Citric Acid Cycle Energy Metabolism Ethnicity Fatty Acids Female Gene Frequency Glucose Glycolysis Humans Hypoxia Male Mitochondria Muscle Muscle Skeletal Nepal Nitric oxide Oxidative Phosphorylation Oxidative Stress Oxygen Consumption PPAR alpha Polymorphism Single Nucleotide Tibet
Signatures of Introgression across the Allele Frequency Spectrum.
The detection of introgression from genomic data is transforming our view of species and the origins of adaptive variation. Among the most widely used approaches to detect introgression is the so-called ABBA-BABA test or...
A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.
Rebekkah J Hitti-Malin, Louise M Burmeister, Sally L Ricketts, Thomas W Lewis, Louise Pettitt, Mike Boursnell, Ellen C Schofield, David Sargan, Cathryn S Mellersh
Sep 14, 2020
BACKGROUND: Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso...
Canine Canine retinal degeneration Dog IMPG2 Inherited PRA Photoreceptor degeneration progressive retinal atrophy Animals Atrophy Breeding Dog Diseases Dogs Gene Frequency Genetic Association Studies Genotype High-Throughput Nucleotide Sequencing Long Interspersed Nucleotide Elements Mutagenesis Insertional Promoter Regions Genetic Proteoglycans Retina Retinal Degeneration Exome Sequencing
Elucidating the genetic architecture of reproductive ageing in the Japanese population.
Momoko Horikoshi, Felix R Day, Masato Akiyama, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Kazuyoshi Ishigaki, Masahiro Kanai, Hollis Wright, Carlos A Toro, Sergio R Ojeda, Alejandro Lomniczi, Michiaki Kubo, Ken K Ong, John RB Perry
Aug 16, 2018
Population studies elucidating the genetic architecture of reproductive ageing have been largely limited to European ancestries, restricting the generalizability of the findings and overlooking possible key genes poorly captured...
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Mathias Gorski, Peter J van der Most, Alexander Teumer, Audrey Y Chu, Man Li, Vladan Mijatovic, Ilja M Nolte, Massimiliano Cocca, Daniel Taliun, Felicia Gomez, Yong Li, Bamidele Tayo, Adrienne Tin, Mary F Feitosa, Thor Aspelund, John Attia, Reiner Biffar, Murielle Bochud, Eric Boerwinkle, Ingrid Borecki, Erwin P Bottinger, Ming-Huei Chen, Vincent Chouraki, Marina Ciullo, Josef Coresh, Marilyn C Cornelis, Gary C Curhan, Adamo Pio d'Adamo, Abbas Dehghan, Laura Dengler, Jingzhong Ding, Gudny Eiriksdottir, Karlhans Endlich, Stefan Enroth, Tõnu Esko, Oscar H Franco, Paolo Gasparini, Christian Gieger, Giorgia Girotto, Omri Gottesman, Vilmundur Gudnason, Ulf Gyllensten, Stephen J Hancock, Tamara B Harris, Catherine Helmer, Simon Höllerer, Edith Hofer, Albert Hofman, Elizabeth G Holliday, Georg Homuth, Frank B Hu, Cornelia Huth, Nina Hutri-Kähönen, Shih-Jen Hwang, Medea Imboden, Åsa Johansson, Mika Kähönen, Wolfgang König, Holly Kramer, Bernhard K Krämer, Ashish Kumar, Zoltan Kutalik, Jean-Charles Lambert, Lenore J Launer, Terho Lehtimäki, Martin de Borst, Gerjan Navis, Morris Swertz, Yongmei Liu, Kurt Lohman, Ruth JF Loos, Yingchang Lu, Leo-Pekka Lyytikäinen, Mark A McEvoy, Christa Meisinger, Thomas Meitinger, Andres Metspalu, Marie Metzger, Evelin Mihailov, Paul Mitchell, Matthias Nauck, Albertine J Oldehinkel, Matthias Olden, Brenda Wjh Penninx, Giorgio Pistis, Peter P Pramstaller, Nicole Probst-Hensch, Olli T Raitakari, Rainer Rettig, Paul M Ridker, Fernando Rivadeneira, Antonietta Robino, Sylvia E Rosas, Douglas Ruderfer, Daniela Ruggiero, Yasaman Saba, Cinzia Sala, Helena Schmidt, Reinhold Schmidt, Rodney J Scott, Sanaz Sedaghat, Albert V Smith, Rossella Sorice, Benedicte Stengel, Sylvia Stracke, Konstantin Strauch, Daniela Toniolo, Andre G Uitterlinden, Sheila Ulivi, Jorma S Viikari, Uwe Völker, Peter Vollenweider, Henry Völzke, Dragana Vuckovic, Melanie Waldenberger, Jie Jin Wang, Qiong Yang, Daniel I Chasman, Gerard Tromp, Harold Snieder, Iris M Heid, Caroline S Fox, Anna Köttgen, Cristian Pattaro, Carsten A Böger, Christian Fuchsberger
Nov 21, 2018
HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation...
A cross-platform approach identifies genetic regulators of human metabolism and health.
Luca A Lotta, Maik Pietzner, Isobel D Stewart, Laura BL Wittemans, Chen Li, Roberto Bonelli, Johannes Raffler, Emma K Biggs, Clare Oliver-Williams, Victoria PW Auyeung, Jian'an Luan, Eleanor Wheeler, Ellie Paige, Praveen Surendran, Gregory A Michelotti, Robert A Scott, Stephen Burgess, Verena Zuber, Eleanor Sanderson, Albert Koulman, Fumiaki Imamura, Nita G Forouhi, Kay-Tee Khaw, MacTel Consortium, Julian L Griffin, Angela M Wood, Gabi Kastenmüller, John Danesh, Adam S Butterworth, Fiona M Gribble, Frank Reimann, Melanie Bahlo, Eric Fauman, Nicholas J Wareham, Claudia Langenberg
Jan 12, 2021
In cross-platform analyses of 174 metabolites, we identify 499 associations (P < 4.9 × 10-10) characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and enrichment for nonsynonymous variation. We...
Diabetes mellitus Type 2 Eye Diseases Gene Frequency Genetic Loci Genetic Pleiotropy Genome Human Glucagon-Like Peptide-2 Receptor Glycine HEALTH Humans Linear Models Mendelian Randomization Analysis metabolism metabolism Inborn Errors Metabolome Mutation Missense Phenotype Polymorphism Single Nucleotide Retinal Telangiectasis Sample Size Serine
Tissue-Specific Education of Decidual NK Cells.
Andrew M Sharkey, Shiqiu Xiong, Philippa R Kennedy, Lucy Gardner, Lydia E Farrell, Olympe Chazara, Martin A Ivarsson, Susan E Hiby, Francesco Colucci, Ashley Moffett
Mar 23, 2016
DeepPVP
Imane Boudellioua, Maxat Kulmanov, Paul N Schofield, Georgios V Gkoutos, Robert Hoehndorf
Feb 15, 2019
BACKGROUND: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these...
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Anne E Justice, Tugce Karaderi, Heather M Highland, Kristin L Young, Mariaelisa Graff, Yingchang Lu, Valérie Turcot, Paul L Auer, Rebecca S Fine, Xiuqing Guo, Claudia Schurmann, Adelheid Lempradl, Eirini Marouli, Anubha Mahajan, Thomas W Winkler, Adam E Locke, Carolina Medina-Gomez, Tõnu Esko, Sailaja Vedantam, Ayush Giri, Ken Sin Lo, Tamuno Alfred, Poorva Mudgal, Maggie CY Ng, Nancy L Heard-Costa, Mary F Feitosa, Alisa K Manning, Sara M Willems, Suthesh Sivapalaratnam, Goncalo Abecasis, Dewan S Alam, Matthew Allison, Philippe Amouyel, Zorayr Arzumanyan, Beverley Balkau, Lisa Bastarache, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Jette Bork-Jensen, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Linda Broer, Amber A Burt, Adam S Butterworth, Mark J Caulfield, Giancarlo Cesana, John C Chambers, Daniel I Chasman, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Francis S Collins, James P Cook, Amanda J Cox, David S Crosslin, John Danesh, Paul IW de Bakker, Simon de Denus, Renée de Mutsert, George Dedoussis, Ellen W Demerath, Joe G Dennis, Josh C Denny, Emanuele Di Angelantonio, Marcus Dörr, Fotios Drenos, Marie-Pierre Dubé, Alison M Dunning, Douglas F Easton, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, Shuang Feng, Ele Ferrannini, Jean Ferrieres, Jose C Florez, Myriam Fornage, Caroline S Fox, Paul W Franks, Nele Friedrich, Wei Gan, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Giorgia Girotto, Mathias Gorski, Harald Grallert, Niels Grarup, Megan L Grove, Stefan Gustafsson, Jeff Haessler, Torben Hansen, Andrew T Hattersley, Caroline Hayward, Iris M Heid, Oddgeir L Holmen, G Kees Hovingh, Joanna MM Howson, Yao Hu, Yi-Jen Hung, Kristian Hveem, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Gail P Jarvik, Yucheng Jia, Torben Jørgensen, Pekka Jousilahti, Johanne M Justesen, Bratati Kahali, Maria Karaleftheri, Sharon LR Kardia, Fredrik Karpe, Frank Kee, Hidetoshi Kitajima, Pirjo Komulainen, Jaspal S Kooner, Peter Kovacs, Bernhard K Krämer, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo A Lakka, David Lamparter, Leslie A Lange, Claudia Langenberg, Eric B Larson, Nanette R Lee, Wen-Jane Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Dajiang J Liu, Jian'an Luan, Leo-Pekka Lyytikäinen, Stuart MacGregor, Reedik Mägi, Satu Männistö, Gaëlle Marenne, Jonathan Marten, Nicholas GD Masca, Mark I McCarthy, Karina Meidtner, Evelin Mihailov, Leena Moilanen, Marie Moitry, Dennis O Mook-Kanamori, Anna Morgan, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Narisu Narisu, Christopher P Nelson, Matt Neville, Ioanna Ntalla, Jeffrey R O'Connell, Katharine R Owen, Oluf Pedersen, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John RB Perry, Tune H Pers, Ailith Ewing, Ozren Polasek, Olli T Raitakari, Asif Rasheed, Chelsea K Raulerson, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Paul M Ridker, Manuel A Rivas, Neil R Robertson, Antonietta Robino, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo Segura-Lepe, Xueling Sim, Andrew J Slater, Kerrin S Small, Blair H Smith, Jennifer A Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, Kari Stefansson, Valgerdur Steinthorsdottir, Kathleen E Stirrups, Konstantin Strauch, Heather M Stringham, Michael Stumvoll, Liang Sun, Praveen Surendran, Karin MA Swart, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Mina Torres, Emmanouil Tsafantakis, Jaakko Tuomilehto, André G Uitterlinden, Matti Uusitupa, Cornelia M van Duijn, Mauno Vanhala, Rohit Varma, Sita H Vermeulen, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Dragana Vuckovic, Lynne E Wagenknecht, Mark Walker, Lars Wallentin, Feijie Wang, Carol A Wang, Shuai Wang, Nicholas J Wareham, Helen R Warren, Dawn M Waterworth, Jennifer Wessel, Harvey D White, Cristen J Willer, James G Wilson, Andrew R Wood, Ying Wu, Hanieh Yaghootkar, Jie Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, He Zheng, Wei Zhou, M Carola Zillikens, Fernando Rivadeneira, Ingrid B Borecki, J Andrew Pospisilik, Panos Deloukas, Timothy M Frayling, Guillaume Lettre, Karen L Mohlke, Jerome I Rotter, Zoltán Kutalik, Joel N Hirschhorn, L Adrienne Cupples, Ruth JF Loos, Kari E North, Cecilia M Lindgren, CHD Exome+ Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, InterAct, ReproGen Consortium, T2D-GENES Consortium, MAGIC Investigators
Mar 06, 2019
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted...
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.
Stephanie A Bien, Yu-Ru Su, David V Conti, Tabitha A Harrison, Conghui Qu, Xingyi Guo, Yingchang Lu, Demetrius Albanes, Paul L Auer, Barbara L Banbury, Sonja I Berndt, Stéphane Bézieau, Hermann Brenner, Daniel D Buchanan, Bette J Caan, Peter T Campbell, Christopher S Carlson, Andrew T Chan, Jenny Chang-Claude, Sai Chen, Charles M Connolly, Douglas F Easton, Edith JM Feskens, Steven Gallinger, Graham G Giles, Marc J Gunter, Jochen Hampe, Jeroen R Huyghe, Michael Hoffmeister, Thomas J Hudson, Eric J Jacobs, Mark A Jenkins, Ellen Kampman, Hyun Min Kang, Tilman Kühn, Sébastien Küry, Flavio Lejbkowicz, Loic Le Marchand, Roger L Milne, Li Li, Christopher I Li, Annika Lindblom, Noralane M Lindor, Vicente Martín, Caroline E McNeil, Marilena Melas, Victor Moreno, Polly A Newcomb, Kenneth Offit, Paul DP Pharaoh, John D Potter, Chenxu Qu, Elio Riboli, Gad Rennert, Núria Sala, Clemens Schafmayer, Peter C Scacheri, Stephanie L Schmit, Gianluca Severi, Martha L Slattery, Joshua D Smith, Antonia Trichopoulou, Rosario Tumino, Cornelia M Ulrich, Fränzel JB van Duijnhoven, Bethany Van Guelpen, Stephanie J Weinstein, Emily White, Alicja Wolk, Michael O Woods, Anna H Wu, Goncalo R Abecasis, Graham Casey, Deborah A Nickerson, Stephen B Gruber, Li Hsu, Wei Zheng, Ulrike Peters
Mar 28, 2019
Genome-wide association studies have reported 56 independently associated colorectal cancer (CRC) risk variants, most of which are non-coding and believed to exert their effects by modulating gene expression. The computational...
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency
BACKGROUND & AIMS: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive condition that may present in a mild form (cholesteryl ester storage disease [CESD]), which mimics non-alcoholic fatty liver disease (NAFLD)....
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