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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Development of a clinical polygenic risk score assay and reporting workflow
Limin Hao,Peter Kraft,Gabriel F. Berriz,Elizabeth Hynes,Christopher Koch,Prathik Korategere V Kumar,Shruti Parpattedar,Marcie A. Steeves,Wanfeng Yu,Ashley Antwi,Charles A. Brunette,Morgan Danowski,Manish Gala,Robert C. Green,Natalie E Jones,Anna C. F. Lewis,Steven A. Lubitz,Pradeep Natarajan,Jason L. Vassy,Matthew S. Lebo +19 more
TL;DR: In this article , a clinical genotype array-based polygenic risk score (PRS) was developed for the ongoing Veterans Affairs Genomic Medicine at Veterans Affairs (GenoVA) Study.
Journal ArticleDOI
Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk.
Felix Vaura,Anni Kauko,Karri Suvila,Karri Suvila,Aki S. Havulinna,Aki S. Havulinna,Nina Mars,Veikko Salomaa,FinnGen,Susan Cheng,Susan Cheng,Teemu J. Niiranen,Teemu J. Niiranen,Teemu J. Niiranen +13 more
Posted ContentDOI
Hidden \'risk\' in polygenic scores: clinical use today could exacerbate health disparities
Alicia R. Martin,Masahiro Kanai,Yoichiro Kamatani,Yukinori Okada,Benjamin M. Neale,Mark J. Daly +5 more
TL;DR: Polygenic risk scores provide a new opportunity to improve health outcomes for many diseases in all populations, but to realize this full potential equitably, greater inclusivity of diverse study participants in genetic studies and open access to resulting summary statistics must be prioritize to ensure that health disparities are not increased for those already most underserved.
Journal ArticleDOI
Polygenic scores in biomedical research
Iftikhar J. Kullo,Cathryn M. Lewis,Michael Inouye,Alicia R. Martin,Samuli Ripatti,Nilanjan Chatterjee +5 more
TL;DR: In this paper , the utility of polygenic risk scores and their strengths and limitations are discussed, and the remaining barriers that need to be overcome for their equitable use are also discussed.
Journal ArticleDOI
An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity
Ayub Qassim,Emmanuelle Souzeau,Owen M. Siggs,Mark M. Hassall,Xikun Han,Helen Griffiths,N Andrew Frost,Neeru A. Vallabh,James F Kirwan,Geeta Menon,Angela J. Cree,Anna Galanopoulos,Ashish Agar,Paul R. Healey,Stuart L. Graham,John Landers,Robert J Casson,Puya Gharahkhani,Colin E. Willoughby,Alex W. Hewitt,Andrew J. Lotery,Stuart MacGregor,Jamie E Craig +22 more
TL;DR: The IOP PRS was correlated positively with maximum IOP, disease severity, need for surgery, and number of affected family members, and Genes acting via IOP-mediated pathways have clinically important and reproducible implications for glaucoma patients and their close family members.
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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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Davis,Franziska Degenhardt,Jurgen Del Favero,Lynn E. DeLisi,Ditte Demontis,Dimitris Dikeos,Timothy G. Dinan,Srdjan Djurovic,Gary Donohoe,Elodie Drapeau,Jubao Duan,Frank Dudbridge,Naser Durmishi,Peter Eichhammer,Johan G. Eriksson,Valentina Escott-Price,Laurent Essioux,Ayman H. Fanous,Martilias S. Farrell,Josef Frank,Lude Franke,Robert Freedman,Nelson B. Freimer,Marion Friedl,Joseph I. Friedman,Menachem Fromer,Lyudmila Georgieva,Elliot S. Gershon,Ina Giegling,Paola Giusti-Rodrguez,Stephanie Godard,Jacqueline I. Goldstein,Vera Golimbet,Srihari Gopal,Jacob Gratten,Jakob Grove,Lieuwe de Haan,Christian Hammer,Marian L. Hamshere,Mark Hansen,Thomas Hansen,Vahram Haroutunian,Annette M. Hartmann,Frans Henskens,Stefan Herms,Joel N. Hirschhorn,Per Hoffmann,A. Hofman,Mads V. Hollegaard,David M. Hougaard,Masashi Ikeda,Inge Joa,Antonio Julià,René S. Kahn,Luba Kalaydjieva,Sena Karachanak-Yankova,Juha Karjalainen,David J. Kavanagh,Matthew C. Keller,Brian Kelly,James L. 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