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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...
Plasma Proteomics of Renal Function
Pamela R Matías-García, Rory Wilson, Qi Guo, Shaza B Zaghlool, James M Eales, Xiaoguang Xu, Fadi J Charchar, John Dormer, Haifa Maalmi, Pascal Schlosser, Mohamed A Elhadad, Jana Nano, Sapna Sharma, Annette Peters, Alessia Fornoni, Dennis O Mook-Kanamori, Juliane Winkelmann, John Danesh, Emanuele Di Angelantonio, Willem H Ouwehand, Nicholas A Watkins, David J Roberts, Agnese Petrera, Johannes Graumann, Wolfgang Koenig, Kristian Hveem, Christian Jonasson, Anna Köttgen, Adam Butterworth, Marco Prunotto, Stefanie M Hauck, Christian Herder, Karsten Suhre, Christian Gieger, Maciej Tomaszewski, Alexander Teumer, Melanie Waldenberger, Human Kidney Tissue Resource
Jul 01, 2021
An exploration of the genetic epidemiology of non-suicidal self-harm and suicide attempt
Abigail Emma Russell, Gibran Hemani, Hannah J Jones, Tamsin Ford, David Gunnell, Jon Heron, Carol Joinson, Paul Moran, Caroline Relton, Matthew Suderman, Sarah Watkins, Becky Mars
Apr 23, 2021
Abstract: Background: Empirical evidence supporting the distinction between suicide attempt (SA) and non-suicidal self-harm (NSSH) is lacking. Although NSSH is a risk factor for SA, we do not currently know whether these...
Predicting the effect of statins on cancer risk using genetic variants from a Mendelian randomization study in the UK Biobank
Paul Carter, Mathew Vithayathil, Siddhartha Kar, Rahul Potluri, Amy M Mason, Susanna C Larsson, Stephen Burgess
Oct 14, 2020
Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors
C Mary Schooling, Shan Luo, Shiu Lun Au Yeung, Deborah J Thompson, Savita Karthikeyan, Thomas R Bolton, Amy M Mason, Erik Ingelsson, Stephen Burgess
Sep 08, 2018
BACKGROUND: Testosterone supplementation has been linked to increased cardiovascular disease risk in some observational studies. The causal role of testosterone can be investigated using a Mendelian randomization approach....
causal inference Disease aetiology Genetic epidemiology Mendelian randomization sex hormones Testosterone Adiponectin Aged Anthropometry blood pressure Coronary Artery Disease Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Humans Jumonji Domain-Containing Histone Demethylases Lipids Male Mendelian Randomization Analysis Middle Aged Oxidoreductases N-Demethylating Receptors Cell Surface Risk Factors stroke Testosterone United Kingdom United States
Rare, protein-truncating variants in $\textit{ATM}$, $\textit{CHEK2}$ and $\textit{PALB2}$, but not $\textit{XRCC2}$, are associated with increased breast cancer risks
B Decker, J Allen, C Luccarini, KA Pooley, M Shah, MK Bolla, Q Wang, S Ahmed, C Baynes, DM Conroy, J Brown, R Luben, EA Ostrander, PD Pharoah, AM Dunning, DF Easton
Aug 21, 2017
Cancer: breast Evidence based practice Genetic epidemiology Geneticscreening/counselling Ataxia Telangiectasia Mutated Proteins Breast Neoplasms Checkpoint Kinase 2 DNA-Binding Proteins Fanconi Anemia Complementation Group N Protein Female Genetic Predisposition to Disease genetic variation Humans Sequence Analysis Protein
Addition of a 161-SNP polygenic risk score to family history-based risk prediction
Inge MM Lakeman, Florentine S Hilbers, Mar Rodríguez-Girondo, Andrew Lee, Maaike PG Vreeswijk, Antoinette Hollestelle, Caroline Seynaeve, Hanne Meijers-Heijboer, Jan C Oosterwijk, Nicoline Hoogerbrugge, Edith Olah, Hans FA Vasen, Christi J van Asperen, Peter Devilee
Jun 20, 2019
Cancer: breast Clinical genetics Genetic epidemiology Genetic screening/counselling polygenic risk score Adult Aged Aged 80 and over Alleles Biomarkers Tumor Breast Neoplasms Case-Control Studies Clinical Decision-Making Disease Management Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Middle Aged Pedigree Polymorphism Single Nucleotide Prognosis Proportional Hazards Models Risk Assessment Young Adult
An exploration of the genetic epidemiology of non-suicidal self-harm and suicide attempt.
Abigail Emma Russell, Gibran Hemani, Hannah J Jones, Tamsin Ford, David Gunnell, Jon Heron, Carol Joinson, Paul Moran, Caroline Relton, Matthew Suderman, Sarah Watkins, Becky Mars
May 10, 2021
BACKGROUND: Empirical evidence supporting the distinction between suicide attempt (SA) and non-suicidal self-harm (NSSH) is lacking. Although NSSH is a risk factor for SA, we do not currently know whether these behaviours lie on...
Association between genetic polymorphisms and endometrial cancer risk
Cemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam J Smith, Neil AJ Ryan, Anie Naqvi, D Gareth Evans, Emma J Crosbie
Feb 10, 2020
endometrial cancer Genetic epidemiology Risk prediction single nucleotide polymorphism (SNP) Systematic review Aromatase Endometrial Neoplasms Female Genetic Predisposition to Disease Genome-Wide Association Study Hepatocyte Nuclear Factor 1-beta Humans Kruppel-Like Transcription Factors Polymorphism Single Nucleotide Prospective Studies Proto-Oncogene Proteins c-mdm2 Proto-Oncogene Proteins c-myc Risk Factors SOXC Transcription Factors eIF-2 Kinase
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, Aocs Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, Opal Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
May 13, 2020
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.
Anna L Guyatt, Rebecca R Brennan, Kimberley Burrows, Philip AI Guthrie, Raimondo Ascione, Susan M Ring, Tom R Gaunt, Angela Pyle, Heather J Cordell, Debbie A Lawlor, Patrick F Chinnery, Gavin Hudson, Santiago Rodriguez
Mar 19, 2019
BACKGROUND: Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist. We undertook a GWAS of qPCR-assayed...
Predicting the effect of statins on cancer risk using genetic variants from a Mendelian randomization study in the UK Biobank.
Paul Carter, Mathew Vithayathil, Siddhartha Kar, Rahul Potluri, Amy M Mason, Susanna C Larsson, Stephen Burgess
Sep 25, 2020
Laboratory studies have suggested oncogenic roles of lipids, as well as anticarcinogenic effects of statins. Here we assess the potential effect of statin therapy on cancer risk using evidence from human genetics. We obtained...
Mendelian randomization causal inference Cell Biology Cholesterol Chromosomes Gene Expression Genetic epidemiology human Lipids Statins Biological Specimen Banks genetic variation Hydroxymethylglutaryl CoA Reductases Hydroxymethylglutaryl-CoA Reductase Inhibitors Mendelian Randomization Analysis Neoplasms prevalence Risk Factors United Kingdom
Association of Selenoprotein and Selenium Pathway Genotypes with Risk of Colorectal Cancer and Interaction with Selenium Status.
Veronika Fedirko, Mazda Jenab, Catherine Méplan, Jeb S Jones, Wanzhe Zhu, Lutz Schomburg, Afshan Siddiq, Sandra Hybsier, Kim Overvad, Anne Tjønneland, Hanane Omichessan, Vittorio Perduca, Marie-Christine Boutron-Ruault, Tilman Kühn, Verena Katzke, Krasimira Aleksandrova, Antonia Trichopoulou, Anna Karakatsani, Anastasia Kotanidou, Rosario Tumino, Salvatore Panico, Giovanna Masala, Claudia Agnoli, Alessio Naccarati, Bas Bueno-de-Mesquita, Roel CH Vermeulen, Elisabete Weiderpass, Guri Skeie, Therese Haugdahl Nøst, Leila Lujan-Barroso, J Ramón Quirós, José María Huerta, Miguel Rodríguez-Barranco, Aurelio Barricarte, Björn Gylling, Sophia Harlid, Kathryn E Bradbury, Nick Wareham, Kay-Tee Khaw, Marc Gunter, Neil Murphy, Heinz Freisling, Kostas Tsilidis, Dagfinn Aune, Elio Riboli, John E Hesketh, David J Hughes
May 03, 2019
Selenoprotein genetic variations and suboptimal selenium (Se) levels may contribute to the risk of colorectal cancer (CRC) development. We examined the association between CRC risk and genotype for single nucleotide...
Biomarkers colorectal cancer risk Colorectal Neoplasms Genetic epidemiology prospective cohort selenium selenium pathway selenium status selenoprotein P selenoprotein gene variation Adult Aged Cohort Studies Colorectal Neoplasms Female Gene Expression Regulation Genetic Predisposition to Disease Genotype Humans Male Middle Aged Nutritional Status Polymorphism Single Nucleotide Prospective Studies selenium Selenoproteins
Mendelian Randomization Studies of Lifestyle-Related Risk Factors for Osteoarthritis
Risk factors for osteoarthritis (OA) often exert effects over protracted time-courses. Mendelian randomization (MR) studies therefore have an advantage over conventional observational studies when studying the causal effect of...
The Y Chromosome
The Human Y chromosome (ChrY) has been demonstrated to be a powerful tool for phylogenetics, population genetics, genetic genealogy and forensics. However, the importance of ChrY genetic variation in relation to human complex...
Y Chromosome Y haplogroups complex human traits complex locus genetic association analyses Genetic epidemiology Chromosomes Human Y Genetic Association Studies genetic variation Genetics Population Genome-Wide Association Study Haplotypes Humans Male Models Genetic molecular epidemiology Multifactorial Inheritance Quantitative Trait Loci Recombination Genetic Sex Determination Processes
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, Aocs Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, Opal Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
Jun 17, 2020
Purpose: The known epithelial ovarian cancer (EOC) susceptibility genes account for less than 50% of the heritable risk of ovarian cancer suggesting that other susceptibility genes exist. The aim of this study was to evaluate...
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V Hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne PM McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher
Mar 20, 2018
BACKGROUND: Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum...
cancer: endocrine Genetic epidemiology Genetics Molecular genetics oncology Adrenal Gland Neoplasms Age Factors Aged Aged 80 and over Female Genetic Association Studies Genotype Germ-Line Mutation Heterozygote Humans Kaplan-Meier Estimate Male Membrane Proteins Middle Aged Mutation Missense Paraganglioma Pheochromocytoma Risk Factors Sex Characteristics Succinate Dehydrogenase
Inferring Causal Relationships Between Risk Factors and Outcomes from Genome-Wide Association Study Data.
An observational correlation between a suspected risk factor and an outcome does not necessarily imply that interventions on levels of the risk factor will have a causal impact on the outcome (correlation is not causation). If...
A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects.
Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Patricia Harrington, Caroline Baynes, Ranjit Manchanda, Douglas F Easton, Ian Jacobs, Paul PD Pharoah, Antonis C Antoniou
Jun 01, 2015
The genetic interplay between body mass index, breast size and breast cancer risk
Brandon Nick Sern Ooi, Huiwen Loh, Peh Joo Ho, Roger L Milne, Graham Giles, Chi Gao, Peter Kraft, Esther M John, Anthony Swerdlow, Hermann Brenner, Anna H Wu, Christopher Haiman, D Gareth Evans, Wei Zheng, Peter A Fasching, Jose Esteban Castelao, Ava Kwong, Xia Shen, Kamila Czene, Per Hall, Alison Dunning, Douglas Easton, Mikael Hartman, Jingmei Li
Jun 20, 2019
BACKGROUND: Evidence linking breast size to breast cancer risk has been inconsistent, and its interpretation is often hampered by confounding factors such as body mass index (BMI). Here, we used linkage disequilibrium score...
Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.
Tibor V Varga, Azra Kurbasic, Mattias Aine, Pontus Eriksson, Ashfaq Ali, George Hindy, Stefan Gustafsson, Jian'an Luan, Dmitry Shungin, Yan Chen, Christina-Alexandra Schulz, Peter M Nilsson, Göran Hallmans, Inês Barroso, Panos Deloukas, Claudia Langenberg, Robert A Scott, Nicholas J Wareham, Lars Lind, Erik Ingelsson, Olle Melander, Marju Orho-Melander, Frida Renström, Paul W Franks
Aug 15, 2017
BACKGROUND: Cross-sectional genome-wide association studies have identified hundreds of loci associated with blood lipids and related cardiovascular traits, but few genetic association studies have focused on long-term changes...
Prospective cohort study Genetic epidemiology longitudinal analysis Morbidity single nucleotide polymorphism Total cholesterol Triglycerides Adult Aged Coronary Artery Disease Cross-Sectional Studies Female Genetic Loci Genome-Wide Association Study Genotype Humans Lipids Male Meta-Analysis as Topic Middle Aged Polymorphism Single Nucleotide Prospective Studies Sweden White People
Estimating the Population Benefits of Blood Pressure Lowering
Hannah Higgins, Amy M Mason, Susanna C Larsson, Dipender Gill, Claudia Langenberg, Stephen Burgess
Sep 20, 2021
Background The causal relevance of elevated blood pressure for several cardiovascular diseases (CVDs) is uncertain, as is the population impact of blood pressure lowering. This study systematically assesses evidence of causality...
Mendelian randomization cardiovascular disease Genetic epidemiology high blood pressure Hypertension Adult Aged Biological Specimen Banks blood pressure Cardiovascular Diseases Causality Genome-Wide Association Study Humans Hypertension Mendelian Randomization Analysis Middle Aged Polymorphism Single Nucleotide Risk Factors United Kingdom
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T Parsons, Cristina Fortuno, Anna González-Neira, Stephan M Heijl, Muriel A Adank, Thomas U Ahearn, Irene L Andrulis, Päivi Auvinen, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Michael Bremer, Ignacio Briceno, Nicola J Camp, Archie Campbell, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Georgia Chenevix-Trench, J Margriet Collée, Kamila Czene, Joe Dennis, Thilo Dörk, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Graham G Giles, Gord Glendon, Pascal Guénel, Melanie Gündert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Elaine F Harkness, Mikael Hartman, Frans BL Hogervorst, Antoinette Hollestelle, Reiner Hoppe, Anthony Howell, Anna Jakubowska, Audrey Jung, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Vessela N Kristensen, Inge MM Lakeman, Jingmei Li, Annika Lindblom, Maria A Loizidou, Artitaya Lophatananon, Jan Lubiński, Craig Luccarini, Michael J Madsen, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Dimitrios Mavroudis, Roger L Milne, Nur Aishah Mohd Taib, Kenneth Muir, Heli Nevanlinna, William G Newman, Jan C Oosterwijk, Sue K Park, Paolo Peterlongo, Paolo Radice, Emmanouil Saloustros, Elinor J Sawyer, Rita K Schmutzler, Mitul Shah, Xueling Sim, Melissa C Southey, Harald Surowy, Maija Suvanto, Ian Tomlinson, Diana Torres, Thérèse Truong, Christi J van Asperen, Regina Waltes, Qin Wang, Xiaohong R Yang, Paul DP Pharoah, Marjanka K Schmidt, Javier Benitez, Bas Vroling, Alison M Dunning, Soo Hwang Teo, Anders Kvist, Miguel de la Hoya, Peter Devilee, Amanda B Spurdle, Maaike PG Vreeswijk, Douglas F Easton
May 18, 2022
Abstract: Background: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods: We...
Multiplex MinION sequencing suggests enteric adenovirus F41 genetic diversity comparable to pre-COVID-19 era.
Mailis Maes, Fahad Khokhar, Sam A J Wilkinson, Andrew D Smith, Ganna Kovalenko, Gordon Dougan, Joshua Quick, Nicholas J Loman, Stephen Baker, Martin D Curran, Jordan P Skittrall, Charlotte J Houldcroft
Mar 09, 2023
Hepatitis Adenovirus Genetic epidemiology Genomics Virology DNA virus Humans Adenoviridae Adenoviridae Infections Sequence Analysis Child genetic variation Pandemics covid-19
Published by: Microbial genomics
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