Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention.
Michael Inouye,Gad Abraham,Christopher P. Nelson,Angela M. Wood,Michael J. Sweeting,Frank Dudbridge,Florence Lai,Stephen Kaptoge,Marta Brozynska,Tingting Wang,Shu Ye,Tom R. Webb,Martin K. Rutter,Ioanna Tzoulaki,Riyaz S. Patel,Ruth J. F. Loos,Bernard Keavney,Harry Hemingway,John F. Thompson,Hugh Watkins,Panos Deloukas,Emanuele Di Angelantonio,Adam S. Butterworth,John Danesh,Nilesh J. Samani +24 more
TLDR
The genomic score developed and evaluated here substantially advances the concept of using genomic information to stratify individuals with different trajectories of CAD risk and highlights the potential for genomic screening in early life to complement conventional risk prediction.About:
This article is published in Journal of the American College of Cardiology.The article was published on 2018-10-16 and is currently open access. It has received 522 citations till now. The article focuses on the topics: Framingham Risk Score.read more
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Improving reporting standards for polygenic scores in risk prediction studies
Hannah Wand,Samuel A. Lambert,Cecelia P. Tamburro,Michael A. Iacocca,Jack W. O’Sullivan,Catherine Sillari,Iftikhar J. Kullo,Robb Rowley,Jacqueline S. Dron,Jacqueline S. Dron,Deanna Brockman,Eric Venner,Mark I McCarthy,Antonis C. Antoniou,Douglas F. Easton,Robert A. Hegele,Amit Khera,Nilanjan Chatterjee,Charles Kooperberg,Karen Edwards,Katherine Vlessis,Kim Kinnear,John Danesh,Helen Parkinson,Erin M. Ramos,Megan C. Roberts,Kelly E. Ormond,Muin J. Khoury,A. Cecile J.W. Janssens,Katrina A.B. Goddard,Peter Kraft,Jacqueline Al MacArthur,Michael Inouye,Genevieve L. Wojcik +33 more
TL;DR: A novel PRS Reporting Statement is developed, updating previous standards to the current state of the field, and emphasis has been placed on data availability and transparency to facilitate reproducibility and benchmarking against other PRS, such as deposition in the publicly available PGS Catalog.
Journal ArticleDOI
2021 ESC Guidelines on cardiovascular disease prevention in clinical practice
Frank L.J. Visseren,François Mach,Yvo M. Smulders,David Carballo,Konstantinos C. Koskinas,Maria Bäck,Athanase Benetos,Alessandro Biffi,José-Manuel Boavida,Davide Capodanno,Bernard Cosyns,Carolyn Crawford,Constantinos H. Davos,Ileana Desormais,Emanuele Di Angelantonio,Oscar H. Franco,Sigrun Halvorsen,FD Richard Hobbs,Monika Hollander,Ewa A. Jankowska,Matthias Michal,Simona Sacco,Naveed Sattar,Lale Tokgozoglu,Serena Tonstad,Konstantinos P Tsioufis,Ineke van Dis,Isabelle C. Van Gelder,Christoph Wanner,Bryan L. Williams +29 more
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Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke
Gad Abraham,Gad Abraham,Gad Abraham,Rainer Malik,Ekaterina Yonova-Doing,Agus Salim,Agus Salim,Tingting Wang,John Danesh,Adam S. Butterworth,Joanna M. M. Howson,Joanna M. M. Howson,Michael Inouye,Martin Dichgans,Martin Dichgans +14 more
TL;DR: A metaGRS is developed that is composed of several stroke-related GRSs and demonstrate improved predictive power compared with individual GRS or classic risk factors and it is suggested that, for individuals with high metaG RS, achieving risk factor levels recommended by current guidelines may be insufficient to mitigate risk.
Journal ArticleDOI
A roadmap to increase diversity in genomic studies
Segun Fatumo,Tinashe Chikowore,Ananyo Choudhury,Muhammad Ayub,Alicia R. Martin,Karoline Kuchenbaecker +5 more
TL;DR: In this article , the authors highlight the importance of sincere, concerted global efforts toward genomic equity to ensure the benefits of genomic medicine are accessible to all, and describe factors that have contributed to the imbalance in representation of different populations and propose a roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances.
Journal ArticleDOI
Heart Disease and Stroke Statistics—2023 Update: A Report From the American Heart Association
TL;DR: The 2023 Statistical Update as mentioned in this paper provides the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors including core health behaviors (smoking, physical activity, diet, and weight) and health factors (cholesterol, blood pressure, and glucose control) that contribute to cardiovascular health.
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A reference panel of 64,976 haplotypes for genotype imputation
Shane A. McCarthy,Sayantan Das,Warren W. Kretzschmar,Olivier Delaneau,Andrew R. Wood,Alexander Teumer,Hyun Min Kang,Christian Fuchsberger,Petr Danecek,Kevin Sharp,Yang Luo,C Sidore,Alan Kwong,Nicholas J. Timpson,Seppo Koskinen,Scott I. Vrieze,Laura J. Scott,He Zhang,Anubha Mahajan,Jan H. Veldink,Ulrike Peters,Ulrike Peters,Carlos N. Pato,Cornelia M. van Duijn,Christopher E. Gillies,Ilaria Gandin,Massimo Mezzavilla,Arthur Gilly,Massimiliano Cocca,Michela Traglia,Andrea Angius,Jeffrey C. Barrett,D.I. Boomsma,Kari Branham,Gerome Breen,Gerome Breen,Chad M. Brummett,Fabio Busonero,Harry Campbell,Andrew T. Chan,Sai Chen,Emily Y. Chew,Francis S. Collins,Laura J Corbin,George Davey Smith,George Dedoussis,Marcus Dörr,Aliki-Eleni Farmaki,Luigi Ferrucci,Lukas Forer,Ross M. Fraser,Stacey Gabriel,Shawn Levy,Leif Groop,Leif Groop,Tabitha A. Harrison,Andrew T. Hattersley,Oddgeir L. Holmen,Kristian Hveem,Matthias Kretzler,James Lee,Matt McGue,Thomas Meitinger,David Melzer,Josine L. Min,Karen L. Mohlke,John B. Vincent,Matthias Nauck,Deborah A. Nickerson,Aarno Palotie,Aarno Palotie,Michele T. Pato,Nicola Pirastu,Melvin G. McInnis,J. Brent Richards,J. Brent Richards,Cinzia Sala,Veikko Salomaa,David Schlessinger,Sebastian Schoenherr,P. Eline Slagboom,Kerrin S. Small,Tim D. Spector,Dwight Stambolian,Marcus A. Tuke,Jaakko Tuomilehto,Leonard H. van den Berg,Wouter van Rheenen,Uwe Völker,Cisca Wijmenga,Daniela Toniolo,Eleftheria Zeggini,Paolo Gasparini,Matthew G. Sampson,James F. Wilson,Timothy M. Frayling,Paul I.W. de Bakker,Morris A. Swertz,Steven A. McCarroll,Charles Kooperberg,Annelot M. Dekker,David Altshuler,Cristen J. Willer,William G. Iacono,Samuli Ripatti,Nicole Soranzo,Nicole Soranzo,Klaudia Walter,Anand Swaroop,Francesco Cucca,Carl A. Anderson,Richard M. Myers,Michael Boehnke,Mark I. McCarthy,Mark I. McCarthy,Richard Durbin,Gonçalo R. Abecasis,Jonathan Marchini +117 more
TL;DR: A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.
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Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population.
Anna Fry,Thomas J. Littlejohns,Catherine Sudlow,Nicola Doherty,Ligia Adamska,Tim Sprosen,Rory Collins,Naomi E. Allen +7 more
TL;DR: UK Biobank is not representative of the sampling population; there is evidence of a “healthy volunteer” selection bias; valid assessment of exposure-disease relationships may be widely generalizable and does not require participants to be Representative of the population at large.
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A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
Majid Nikpay,Anuj Goel,Won H-H.,Leanne M. Hall,Christina Willenborg,Stavroula Kanoni,Danish Saleheen,Theodosios Kyriakou,Christopher P. Nelson,Christopher P. Nelson,Jemma C. Hopewell,Tom R. Webb,Tom R. Webb,Lingyao Zeng,Abbas Dehghan,Maris Alver,Sebastian M. Armasu,Kirsi Auro,Kirsi Auro,Andrew Bjonnes,Daniel I. Chasman,Shufeng Chen,Ian Ford,Nora Franceschini,Christian Gieger,Christopher Grace,Stefan Gustafsson,Jie Huang,Hwang S-J.,Yun Kyoung Kim,Marcus E. Kleber,King Wai Lau,Xiangfeng Lu,Yingchang Lu,Lyytikäinen L-P.,Evelin Mihailov,Alanna C. Morrison,Natalia Pervjakova,Natalia Pervjakova,Natalia Pervjakova,Liming Qu,Lynda M. Rose,Elias Salfati,Richa Saxena,Markus Scholz,Albert V. Smith,Emmi Tikkanen,André G. Uitterlinden,Xueli Yang,Weihua Zhang,Wei Zhao,M. De Andrade,P. De Vries,N. R. van Zuydam,N. R. van Zuydam,Sonia S. Anand,Lars Bertram,Frank Beutner,George Dedoussis,Philippe M. Frossard,Dominique Gauguier,Alison H. Goodall,Omri Gottesman,Marc Haber,Han B-G.,Shapour Jalilzadeh,Thorsten Kessler,Inke R. König,Lars Lannfelt,Wolfgang Lieb,Lars Lind,Cecilia M. Lindgren,Lokki M-L.,Lokki M-L.,Patrik K. E. Magnusson,Nadeem Hayyat Mallick,Narinder K. Mehra,Thomas Meitinger,Memon F-U-R.,Andrew P. Morris,Andrew P. Morris,Markku S. Nieminen,Nancy L. Pedersen,Annette Peters,Loukianos S. Rallidis,Adil Rasheed,M Samuel,Svati H. Shah,Juha Sinisalo,Kathleen Stirrups,Stella Trompet,Ligui Wang,Ligui Wang,Khan Shah Zaman,Diego Ardissino,Eric Boerwinkle,Ingrid B. Borecki,Erwin P. Bottinger,Julie E. Buring,John C. Chambers,Rory Collins,L. A. Cupples,L. A. Cupples,John Danesh,Ilja Demuth,Roberto Elosua,Stephen E. Epstein,Tõnu Esko,Mary F. Feitosa,Oscar H. Franco,MariaGrazia Franzosi,Christopher B. Granger,Dongfeng Gu,Vilmundur Gudnason,Alistair S. Hall,Anders Hamsten,Tamara B. Harris,Stanley L. Hazen,Christian Hengstenberg,Albert Hofman,Erik Ingelsson,Carlos Iribarren,J W Jukema,Pekka J. Karhunen,Kim B-J.,Jaspal S. Kooner,Iftikhar J. Kullo,Terho Lehtimäki,Loos Rjf.,Olle Melander,Andres Metspalu,Winfried März,Winfried März,Winfried März,Colin N. A. Palmer,Markus Perola,Markus Perola,Markus Perola,Thomas Quertermous,Daniel J. Rader,Paul M. Ridker,Samuli Ripatti,Samuli Ripatti,Robert Roberts,Veikko Salomaa,Dharambir K. Sanghera,Stephen M. Schwartz,Udo Seedorf,Alexandre F.R. Stewart,David J. Stott,Joachim Thiery,Pierre Zalloua,Christopher J. O'Donnell,Christopher J. O'Donnell,Muredach P. Reilly,Themistocles L. Assimes,John R. Thompson,Jeanette Erdmann,Robert Clarke,Hugh Watkins,Sekar Kathiresan,Ruth McPherson,Panos Deloukas,Panos Deloukas,Heribert Schunkert,Nilesh J. Samani,Nilesh J. Samani,Martin Farrall +167 more
TL;DR: This article conducted a meta-analysis of coronary artery disease (CAD) cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 millions low-frequency (0.005 < MAF < 0.5) variants.
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