Open Access
Exome-wide association study of plasma lipids in > 300,000 individuals
Dajiang J. Liu,Gina M. Peloso,Haojie Yu,Adam S. Butterworth,Xiao Wang,Anubha Mahajan,Danish Saleheen,Connor A. Emdin,Dewan S. Alam,Alexessander Couto Alves,Philippe Amouyel,Emanuele Di Angelantonio,Dominique Arveiler,Themistocles L. Assimes,Paul L. Auer,Usman Baber,Christie M. Ballantyne,Lia E. Bang,Marianne Benn,Joshua C. Bis,Michael Boehnke,Eric Boerwinkle,Jette Bork-Jensen,Erwin P. Bottinger,Ivan Brandslund,Morris J. Brown,Fabio Busonero,Mark J. Caulfield,John C. Chambers,Daniel I. Chasman,Y. Eugene Chen,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audrey Y. Chu,John M. C. Connell,Francesco Cucca,L. Adrienne Cupples,Scott M. Damrauer,Gail Davies,Ian J. Deary,George Dedoussis,Joshua C. Denny,Anna F. Dominiczak,Marie-Pierre Dubé,Tapani Ebeling,Gudny Eiriksdottir,Tõnu Esko,Aliki-Eleni Farmaki,Mary F. Feitosa,Marco M Ferrario,Jean Ferrières,Ian Ford,Myriam Fornage,Paul W. Franks,Timothy M. Frayling,Ruth Frikke-Schmidt,Lars G. Fritsche,Philippe M. Frossard,Valentin Fuster,Santhi K. Ganesh,Wei Gao,Melissa E. Garcia,Christian Gieger,Franco Giulianini,Mark O. Goodarzi,Harald Grallert,Niels Grarup,Leif Groop,Megan L. Grove,Vilmundur Gudnason,Torben Hansen,Tamara B. Harris,Caroline Hayward,Joel N. Hirschhorn,Oddgeir L. Holmen,Jennifer E. Huffman,Yong Huo,Kristian Hveem,Sehrish Jabeen,Anne U. Jackson,Johanna Jakobsdottir,Marjo-Riitta Järvelin,Gorm B. Jensen,Marit E. Jørgensen,J. Wouter Jukema,Johanne Marie Justesen,Pia R. Kamstrup,Stavroula Kanoni,Fredrik Karpe,Frank Kee,Amit Khera,Derek Klarin,Heikki A. Koistinen,Jaspal S. Kooner,Charles Kooperberg,Kari Kuulasmaa,Johanna Kuusisto,Markku Laakso,Timo A. Lakka,Claudia Langenberg,Anne Langsted,Lenore J. Launer,Torsten Lauritzen,David C. Liewald,Li-An Lin,Allan Linneberg,Ruth J. F. Loos,Yingchang Lu,Xiangfeng Lu,Reedik Mägi,Anders Mälarstig,Ani Manichaikul,Alisa K. Manning,Pekka Mäntyselkä,Eirini Marouli,Nicholas G. D. Masca,Andrea Maschio,James B. Meigs,Olle Melander,Andres Metspalu,Andrew P. Morris,Alanna C. Morrison,Antonella Mulas,Martina Mueller-Nurasyid,Patricia B. Munroe,Matt Neville,Jonas B. Nielsen,Sune F. Nielsen,Børge G. Nordestgaard,Jose M. Ordovas,Roxana Mehran,C.J. O'Donnell,Marju Orho-Melander,Cliona Molony,Pieter Muntendam,Sandosh Padmanabhan,Colin N. A. Palmer,Dorota Pasko,Aniruddh P. Patel,Oluf Pedersen,Markus Perola,Annette Peters,Charlotta Pisinger,Giorgio Pistis,Ozren Polasek,Neil Poulter,Bruce M. Psaty,Daniel J. Rader,Asif Rasheed,Rainer Rauramaa,Dermot F. Reilly,Alexander P. Reiner,Frida Renström,Stephen S. Rich,Paul M. Ridker,John D. Rioux,Neil R. Robertson,Dan M. Roden,Jerome I. Rotter,Igor Rudan,Veikko Salomaa,Nilesh J. Samani,Serena Sanna,Naveed Sattar,Ellen M. Schmidt,Robert A. Scott,Peter S. Sever,Raquel S. Sevilla,Christian M. Shaffer,Xueling Sim,Suthesh Sivapalaratnam,Kerrin S. Small,Albert V. Smith,Blair H. Smith,Sangeetha Somayajula,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,John M. Starr,Kathleen Stirrups,Nathan O. Stitziel,Konstantin Strauch,Heather M. Stringham,Praveen Surendran,Hayato Tada,Alan R. Tall,Hua Tang,Jean-Claude Tardif,Kent D. Taylor,Stella Trompet,Philip S. Tsao,Jaakko Tuomilehto,Anne Tybjærg-Hansen,Natalie R. van Zuydam,Anette Varbo,Tibor V. Varga,Jarmo Virtamo,Melanie Waldenberger,Nan Wang,Nicholas J. Wareham,Helen R. Warren,Peter Weeke,Joshua S. Weinstock,Jennifer Wessel,James G. Wilson,Peter W.F. Wilson,Ming Xu,Hanieh Yaghootkar,Robin Young,Eleftheria Zeggini,He Zhang,Neil S Zheng,Weihua Zhang,Yan Zhang,Wei Zhou,Yanhua Zhou,Magdalena Zoledziewska,Joanna M. M. Howson,John Danesh,Mark I. McCarthy,Chad A. Cowan,Gonçalo R. Abecasis,Panos Deloukas,Kiran Musunuru,Cristen J. Willer,Sekar Kathiresan +226 more
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The article was published on 2017-01-01 and is currently open access. It has received 254 citations till now. The article focuses on the topics: Exome.read more
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MAFLD: A Consensus-Driven Proposed Nomenclature for Metabolic Associated Fatty Liver Disease.
TL;DR: Experts reached consensus that NAFLD does not reflect current knowledge and metabolic (dysfunction) associated fatty liver disease "MAFLD" was suggested as a more appropriate overarching term and opens the door for efforts from the research community to update the nomenclature and sub-phenotype the disease in order to accelerate the translational path to new treatments.
Journal ArticleDOI
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians
TL;DR: In this article, the authors provide explanations of the information typically reported in Mendelian randomisation studies that can be used to assess the plausibility of these assumptions and guidance on how to interpret findings from such studies in the context of other sources of evidence.
Journal ArticleDOI
Non-alcoholic fatty liver disease: causes, diagnosis, cardiometabolic consequences, and treatment strategies.
TL;DR: This Review highlights novel concepts related to diagnosis, risk prediction, and treatment of non-alcoholic fatty liver disease that could contribute to the development of a multidisciplinary approach for endocrinologists and hepatologists working together in the management of NAFLD.
Journal ArticleDOI
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Derek Klarin,Derek Klarin,Scott M. Damrauer,Scott M. Damrauer,Kelly Cho,Yan V. Sun,Tanya M. Teslovich,Jacqueline Honerlaw,David R. Gagnon,David R. Gagnon,Scott L. DuVall,Jin Li,Jin Li,Gina M. Peloso,Mark Chaffin,Aeron Small,Aeron Small,Jie Huang,Hua Tang,Julie A. Lynch,Yuk-Lam Ho,Dajiang J. Liu,Connor A. Emdin,Connor A. Emdin,Alexander H. Li,Jennifer E. Huffman,Jennifer Lee,Jennifer Lee,Pradeep Natarajan,Pradeep Natarajan,Rajiv Chowdhury,Danish Saleheen,Danish Saleheen,Marijana Vujkovic,Marijana Vujkovic,Aris Baras,Saiju Pyarajan,Saiju Pyarajan,Emanuele Di Angelantonio,Benjamin M. Neale,Benjamin M. Neale,Aliya Naheed,Amit Khera,Amit Khera,John Danesh,Kyong-Mi Chang,Kyong-Mi Chang,Gonçalo R. Abecasis,Cristen J. Willer,Frederick E. Dewey,David J. Carey,VA Million Veteran Program,VA Million Veteran Program,John Concato,J. Michael Gaziano,J. Michael Gaziano,J. Michael Gaziano,Christopher J. O'Donnell,Christopher J. O'Donnell,Philip S. Tsao,Philip S. Tsao,Sekar Kathiresan,Sekar Kathiresan,Daniel J. Rader,Peter W.F. Wilson,Peter W.F. Wilson,Themistocles L. Assimes,Themistocles L. Assimes +67 more
TL;DR: Analysis of genetic data and blood lipid measurements from over 300,000 participants in the Million Veteran Program identifies new associations for blood lipid traits and proposes novel indications for pharmaceutical inhibitors targeting PCSK9, ANGPTL4 (type 2 diabetes) and PDE3B (triglycerides and coronary disease).
Journal ArticleDOI
Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants with Risk of Coronary Heart Disease
Brian A. Ference,Brian A. Ference,John J.P. Kastelein,Kausik K. Ray,Henry N. Ginsberg,M. John Chapman,Chris J. Packard,Ulrich Laufs,Clare Oliver-Williams,Angela M. Wood,Adam S. Butterworth,Emanuele Di Angelantonio,John Danesh,Stephen J. Nicholls,Deepak L. Bhatt,Marc S. Sabatine,Alberico L. Catapano +16 more
TL;DR: Differences in associated lipid levels between the LPL and LDLR scores were associated with similar lower risk of CHD per 10-mg/dL lower level of ApoB-containing lipoproteins, and the associations between triglyceride and LDL-C levels with the risk ofCHD became null after adjusting for differences in ApOB.
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Meta-Analysis: A Constantly Evolving Research Integration Tool
TL;DR: The four articles in this special section onMeta-analysis illustrate some of the complexities entailed in meta-analysis methods and contributes both to advancing this methodology and to the increasing complexities that can befuddle researchers.
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An integrated map of genetic variation from 1,092 human genomes
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TL;DR: It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
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Biological, clinical and population relevance of 95 loci for blood lipids
Tanya M. Teslovich,Kiran Musunuru,Albert V. Smith,Andrew C. Edmondson,Ioannis M. Stylianou,Masahiro Koseki,James P. Pirruccello,James P. Pirruccello,James P. Pirruccello,Samuli Ripatti,Daniel I. Chasman,Cristen J. Willer,Christopher T. Johansen,Sigrid W. Fouchier,Aaron Isaacs,Gina M. Peloso,Maja Barbalić,Sally L. Ricketts,Joshua C. Bis,Yurii S. Aulchenko,Gudmar Thorleifsson,Mary F. Feitosa,John C. Chambers,Marju Orho-Melander,Olle Melander,Toby Johnson,Xiaohui Li,Xiuqing Guo,Mingyao Li,Yoon Shin Cho,Min Jin Go,Young Jin Kim,Jong-Young Lee,Taesung Park,Kyunga Kim,Xueling Sim,Rick Twee-Hee Ong,Damien C. Croteau-Chonka,Leslie A. Lange,Joshua D. Smith,Kijoung Song,Jing Hua Zhao,Xin Yuan,Jian'an Luan,Claudia Lamina,Andreas Ziegler,Weihua Zhang,Robert Y.L. Zee,Alan F. Wright,Jacqueline C. M. Witteman,James F. Wilson,Gonneke Willemsen,H.-Erich Wichmann,John Whitfield,Dawn M. Waterworth,Nicholas J. Wareham,Gérard Waeber,Peter Vollenweider,Benjamin F. Voight,Benjamin F. Voight,Veronique Vitart,André G. Uitterlinden,Manuela Uda,Jaakko Tuomilehto,John R. Thompson,Toshiko Tanaka,Ida Surakka,Heather M. Stringham,Tim D. Spector,Nicole Soranzo,Nicole Soranzo,Johannes H. Smit,Juha Sinisalo,Kaisa Silander,Eric J.G. Sijbrands,Angelo Scuteri,James Scott,David Schlessinger,Serena Sanna,Veikko Salomaa,Juha Saharinen,Chiara Sabatti,Aimo Ruokonen,Igor Rudan,Lynda M. Rose,Robert Roberts,Mark J. Rieder,Bruce M. Psaty,Peter P. Pramstaller,Irene Pichler,Markus Perola,Brenda W.J.H. Penninx,Nancy L. Pedersen,Cristian Pattaro,Alex N. Parker,Guillaume Paré,Ben A. Oostra,Christopher J. O'Donnell,Markku S. Nieminen,Deborah A. Nickerson,Grant W. Montgomery,Thomas Meitinger,Ruth McPherson,Mark I. McCarthy,Wendy L. McArdle,David Masson,Nicholas G. Martin,Fabio Marroni,Massimo Mangino,Patrik K. E. Magnusson,Gavin Lucas,Robert Luben,Ruth J. F. Loos,Marja-Liisa Lokki,Guillaume Lettre,Claudia Langenberg,Lenore J. Launer,Edward G. Lakatta,Reijo Laaksonen,Kirsten Ohm Kyvik,Florian Kronenberg,Inke R. Koenig,Kay-Tee Khaw,Jaakko Kaprio,Lee M. Kaplan,Åsa Johansson,Marjo-Riitta Järvelin,A. Cecile J.W. Janssens,Erik Ingelsson,Wilmar Igi,G. Kees Hovingh,Jouke-Jan Hottenga,Albert Hofman,Andrew A. Hicks,Christian Hengstenberg,Iris M. Heid,Caroline Hayward,Aki S. Havulinna,Nicholas D. Hastie,Tamara B. Harris,Talin Haritunians,Alistair S. Hall,Ulf Gyllensten,Candace Guiducci,Leif Groop,Leif Groop,Elena Gonzalez,Christian Gieger,Nelson B. Freimer,Luigi Ferrucci,Jeanette Erdmann,Paul Elliott,Kenechi Ejebe,Angela Doering,Anna F. Dominiczak,Serkalem Demissie,Panagiotis Deloukas,Eco J. C. de Geus,Ulf de Faire,Gabriel Crawford,Francis S. Collins,Yii-Der Ida Chen,Mark J. Caulfield,Harry Campbell,Noël P. Burtt,Lori L. Bonnycastle,Dorret I. Boomsma,S. Matthijs Boekholdt,Richard N. Bergman,Inês Barroso,Stefania Bandinelli,Christie M. Ballantyne,Themistocles L. Assimes,Themistocles L. Assimes,Thomas Quertermous,Thomas Quertermous,David Altshuler,David Altshuler,Mark Seielstad,Tien Yin Wong,E-Shyong Tai,Alan B. Feranil,Christopher W. Kuzawa,Christopher W. Kuzawa,Linda S. Adair,Herman A. Taylor,Ingrid B. Borecki,Stacey Gabriel,James G. Wilson,Hilma Holm,Unnur Thorsteinsdottir,Vilmundur Gudnason,Ronald M. Krauss,Karen L. Mohlke,Jose M. Ordovas,Patricia B. Munroe,Jaspal S. Kooner,Alan R. Tall,Robert A. Hegele,John J.P. Kastelein,Eric E. Schadt,Jerome I. Rotter,Eric Boerwinkle,David P. Strachan,Vincent Mooser,Kari Stefansson,Muredach P. Reilly,Nilesh J. Samani,Heribert Schunkert,L. Adrienne Cupples,Manjinder S. Sandhu,Manjinder S. Sandhu,Paul M. Ridker,Daniel J. Rader,Cornelia M. van Duijn,Leena Peltonen,Gonçalo R. Abecasis,Michael Boehnke,Sekar Kathiresan +218 more
TL;DR: The results identify several novel loci associated with plasma lipids that are also associated with CAD and provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
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A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
Robert Kralovics,Francesco Passamonti,Andreas Buser,Soon Siong Teo,Ralph Tiedt,Jakob Passweg,André Tichelli,Mario Cazzola,Radek C. Skoda +8 more
TL;DR: Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
E. Joanna Baxter,Linda M. Scott,Peter J. Campbell,Clare L. East,Nasios Fourouclas,Soheila Swanton,George S. Vassiliou,Anthony J. Bench,Elaine M. Boyd,Natasha Curtin,Michael A. Scott,Wendy N. Erber,Anthony R. Green,Anthony R. Green +13 more
TL;DR: A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder and its presence in all erythropoietin-independent erythroid colonies demonstrates a link with growth factor hypersensitivity, a key biological feature of these disorders.
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