Blood Pressure Loci Identified with a Gene-Centric Array
Toby Johnson,Tom R. Gaunt,Stephen Newhouse,Stephen Newhouse,Sandosh Padmanabhan,Marciej Tomaszewski,Marciej Tomaszewski,Meena Kumari,Richard W Morris,Ioanna Tzoulaki,Ioanna Tzoulaki,Eoin O'Brien,Neil R Poulter,Peter S. Sever,Denis C. Shields,Simon A. McG. Thom,SG Wannamethee,Peter H. Whincup,Morris J. Brown,John M. C. Connell,Richard Dobson,Philip Howard,Charles A. Mein,Abiodun Onipinla,Sue Shaw-Hawkins,Yun Zhang,George Davey Smith,Ian N M Day,Debbie A Lawlor,Alison H. Goodall,Alison H. Goodall,F. Gerald R. Fowkes,Gonçalo R. Abecasis,Paul Elliott,Paul Elliott,Vesela Gateva,Peter S. Braund,Peter S. Braund,Paul Burton,Paul Burton,Christopher P. Nelson,Christopher P. Nelson,Martin D. Tobin,Pim van der Harst,Nicola Glorioso,Hani Neuvrith,Erika Salvi,Jan A. Staessen,Andrea Stucchi,Nabila Devos,Xavier Jeunemaitre,Xavier Jeunemaitre,Pierre-François Plouin,Pierre-François Plouin,Jean Tichet,Peeter Juhanson,Elin Org,Margus Putku,Siim Sõber,Gudrun Veldre,Margus Viigimaa,Anna Levinsson,Annika Rosengren,Dag S. Thelle,Claire E. Hastie,Thomas Hedner,Wai K. Lee,Olle Melander,Björn Wahlstrand,Rebecca Hardy,Andrew Wong,Jackie A. Cooper,Jutta Palmen,Li Chen,Alexandre F.R. Stewart,George A. Wells,Harm-Jan Westra,Marcel G. M. Wolfs,Robert Clarke,Maria Grazia Franzosi,Anuj Goel,Anuj Goel,Anders Hamsten,Mark Lathrop,John F. Peden,John F. Peden,Udo Seedorf,Hugh Watkins,Hugh Watkins,Willem H. Ouwehand,Willem H. Ouwehand,Jennifer G. Sambrook,Jonathan Stephens,Juan-Pablo Casas,Juan-Pablo Casas,Fotios Drenos,Michael V. Holmes,Mika Kivimäki,Sonia Shah,Tina Shah,Philippa J. Talmud,John C. Whittaker,John C. Whittaker,Chris Wallace,Christian Delles,Maris Laan,Diana Kuh,Steve E. Humphries,Fredrik Nyberg,Fredrik Nyberg,Daniele Cusi,Robert Roberts,Christopher Newton-Cheh,Lude Franke,Alive V. Stanton,Anna F. Dominiczak,Martin Farrall,Martin Farrall,Aroon D. Hingorani,Nilesh J. Samani,Nilesh J. Samani,Mark J. Caulfield,Patricia B. Munroe +122 more
TLDR
An analysis of combined discovery and follow-up data identified SNPs significantly associated with BP at p < 8.56 × 10(-7) at four further loci and highlighted the utility of studying SNPs and samples that are independent of those studied previously even when the sample size is smaller than that in previous studies.Abstract:
Raised blood pressure (BP) is a major risk factor for cardiovascular disease. Previous studies have identified 47 distinct genetic variants robustly associated with BP, but collectively these explain only a few percent of the heritability for BP phenotypes. To find additional BP loci, we used a bespoke gene-centric array to genotype an independent discovery sample of 25,118 individuals that combined hypertensive case-control and general population samples. We followed up four SNPs associated with BP at our p < 8.56 × 10(-7) study-specific significance threshold and six suggestively associated SNPs in a further 59,349 individuals. We identified and replicated a SNP at LSP1/TNNT3, a SNP at MTHFR-NPPB independent (r(2) = 0.33) of previous reports, and replicated SNPs at AGT and ATP2B1 reported previously. An analysis of combined discovery and follow-up data identified SNPs significantly associated with BP at p < 8.56 × 10(-7) at four further loci (NPR3, HFE, NOS3, and SOX6). The high number of discoveries made with modest genotyping effort can be attributed to using a large-scale yet targeted genotyping array and to the development of a weighting scheme that maximized power when meta-analyzing results from samples ascertained with extreme phenotypes, in combination with results from nonascertained or population samples. Chromatin immunoprecipitation and transcript expression data highlight potential gene regulatory mechanisms at the MTHFR and NOS3 loci. These results provide candidates for further study to help dissect mechanisms affecting BP and highlight the utility of studying SNPs and samples that are independent of those studied previously even when the sample size is smaller than that in previous studies.read more
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Journal ArticleDOI
Resistant Hypertension: Detection, Evaluation, and Management: A Scientific Statement From the American Heart Association.
Robert M. Carey,David A. Calhoun,George L. Bakris,Robert D. Brook,Stacie L. Daugherty,Cheryl Dennison-Himmelfarb,Brent M. Egan,John M. Flack,Samuel S. Gidding,Eric Judd,Daniel T. Lackland,Cheryl L. Laffer,Christopher Newton-Cheh,Steven M. Smith,Sandra J. Taler,Stephen C. Textor,Tanya N. Turan,William B. White +17 more
TL;DR: Management of RH includes maximization of lifestyle interventions, use of long-acting thiazide-like diuretics, addition of a mineralocorticoid receptor antagonist (spironolactone or eplerenone), and, if BP remains elevated, stepwise addition of antihypertensive drugs with complementary mechanisms of action to lower BP.
Journal ArticleDOI
Nitric oxide signalling in cardiovascular health and disease
TL;DR: The updated paradigms on NOS regulation, NO interaction with reactive oxidant species in specific subcellular compartments, and downstream effects of NO in target cardiovascular tissues are summarized, while emphasizing the latest developments of molecular tools and biomarkers to modulate and monitor NO production and bioavailability.
Journal ArticleDOI
Genome-wide associations for birth weight and correlations with adult disease
Momoko Horikoshi,Robin N Beaumont,Felix R. Day,Nicole M. Warrington,Nicole M. Warrington,Marjolein N. Kooijman,Juan Fernández-Tajes,Bjarke Feenstra,Natalie R. van Zuydam,Kyle J. Gaulton,Kyle J. Gaulton,Niels Grarup,Jonathan P. Bradfield,David P. Strachan,Ruifang Li-Gao,Tarunveer S. Ahluwalia,Tarunveer S. Ahluwalia,Eskil Kreiner,Rico Rueedi,Rico Rueedi,Leo-Pekka Lyytikäinen,Diana L. Cousminer,Diana L. Cousminer,Diana L. Cousminer,Ying Wu,Elisabeth Thiering,Carol A. Wang,Christian Theil Have,Jouke-Jan Hottenga,Natalia Vilor-Tejedor,Peter K. Joshi,Eileen Tai-Hui Boh,Ioanna Ntalla,Ioanna Ntalla,Niina Pitkänen,Anubha Mahajan,Elisabeth M. van Leeuwen,Raimo Joro,Vasiliki Lagou,Vasiliki Lagou,Michael Nodzenski,Louise A. Diver,Krina T. Zondervan,Mariona Bustamante,Pedro Marques-Vidal,Josep M. Mercader,Amanda J. Bennett,Nilufer Rahmioglu,Dale R. Nyholt,Ronald C.W. Ma,Claudia H. T. Tam,Wing Hung Tam,Santhi K. Ganesh,Frank J.A. van Rooij,Samuel E. Jones,Po-Ru Loh,Katherine S. Ruth,Marcus A. Tuke,Jessica Tyrrell,Andrew R. Wood,Hanieh Yaghootkar,Denise M. Scholtens,Lavinia Paternoster,Inga Prokopenko,Inga Prokopenko,Peter Kovacs,Mustafa Atalay,Sara M. Willems,Kalliope Panoutsopoulou,Xu Wang,Lisbeth Carstensen,Frank Geller,Katharina E. Schraut,Mario Murcia,Catharina E. M. van Beijsterveldt,Gonneke Willemsen,Emil V. R. Appel,Cilius Esmann Fonvig,Cæcilie Trier,Carla M. T. Tiesler,Marie Standl,Zoltán Kutalik,Zoltán Kutalik,Sílvia Bonàs-Guarch,David M. Hougaard,Friman Sánchez,David Torrents,Johannes Waage,Mads V. Hollegaard,Hugoline G. de Haan,Frits R. Rosendaal,Carolina Medina-Gomez,Susan M. Ring,Gibran Hemani,George McMahon,Neil R. Robertson,Christopher J. Groves,Claudia Langenberg,Jian'an Luan,Robert A. Scott,Jing Hua Zhao,Frank D. Mentch,Scott M. MacKenzie,Rebecca M. Reynolds,William L. Lowe,Anke Tönjes,Michael Stumvoll,Virpi Lindi,Timo A. Lakka,Cornelia M. van Duijn,Wieland Kiess,Antje Körner,Thorkild I. A. Sørensen,Harri Niinikoski,Katja Pahkala,Olli T. Raitakari,Eleftheria Zeggini,George Dedoussis,Yik Ying Teo,Seang-Mei Saw,Mads Melbye,Mads Melbye,Mads Melbye,Harry Campbell,James F. Wilson,Martine Vrijheid,Eco J. C. de Geus,Eco J. C. de Geus,Dorret I. Boomsma,Haja N. Kadarmideen,Jens-Christian Holm,Torben Hansen,Sylvain Sebert,Sylvain Sebert,Andrew T. Hattersley,Lawrence J. Beilin,John P. Newnham,Craig E. Pennell,Joachim Heinrich,Linda S. Adair,Judith B. Borja,Karen L. Mohlke,Johan G. Eriksson,Johan G. Eriksson,Elisabeth Widen,Mika Kähönen,Jorma Viikari,Terho Lehtimäki,Peter Vollenweider,Klaus Bønnelykke,Hans Bisgaard,Dennis O. Mook-Kanamori,Albert Hofman,Fernando Rivadeneira,André G. Uitterlinden,Charlotta Pisinger,Oluf Pedersen,Christine Power,Elina Hyppönen,Elina Hyppönen,Nicholas J. Wareham,Hakon Hakonarson,Eleanor Davies,Brian R. Walker,Vincent W. V. Jaddoe,Marjo-Riitta Järvelin,Struan F.A. Grant,Allan Vaag,Allan Vaag,Debbie A Lawlor,Timothy M. Frayling,George Davey Smith,Andrew P. Morris,Andrew P. Morris,Andrew P. Morris,Ken K. Ong,Janine F. Felix,Nicholas J. Timpson,John R. B. Perry,David M. Evans,David M. Evans,Mark I. McCarthy,Mark I. McCarthy,Mark I. McCarthy,Rachel M. Freathy,Rachel M. Freathy +185 more
TL;DR: In this paper, the authors performed a meta-analysis of birth weight in 153,781 individuals, identifying 60 loci where fetal genotype was associated with birth weight (P < 5.5×10−8).
Journal ArticleDOI
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders
Marcel den Hoed,Mark Eijgelsheim,Tõnu Esko,Bianca J. J. M. Brundel,David S. Peal,David M. Evans,Ilja M. Nolte,Ayellet V. Segrè,Hilma Holm,Robert E. Handsaker,Harm-Jan Westra,Toby Johnson,Aaron Isaacs,Jian Yang,Alicia Lundby,Jing Hua Zhao,Young Jin Kim,Min Jin Go,Peter Almgren,Murielle Bochud,Gabrielle Boucher,Marilyn C. Cornalis,Daniel F. Gudbjartsson,David Hadley,Pim van der Harst,Caroline Hayward,Martin den Heijer,Wilmar Igl,Anne U. Jackson,Zoltán Kutalik,Jian'an Luan,John P. Kemp,Kati Kristiansson,Claes Ladenvall,Mattias Lorentzon,May E. Montasser,Omer T. Njajou,Paul F. O'Reilly,Sandosh Padmanabhan,Beate St Pourcain,Tuomo Rankinen,Perttu Salo,Toshiko Tanaka,Nicholas J. Timpson,Veronique Vitart,Lindsay L. Waite,William Wheeler,Weihua Zhang,Harmen H.M. Draisma,Mary F. Feitosa,Kathleen F. Kerr,Penelope A. Lind,Evelin Mihailov,N. Charlotte Onland-Moret,Ci Song,Michael N. Weedon,Weijia Xie,Loic Yengo,Devin Absher,Christine M. Albert,Alvaro Alonso,Dan E. Arking,Paul I.W. de Bakker,Beverley Balkau,Cristina Barlassina,Paola Benaglio,Joshua C. Bis,Nabila Bouatia-Naji,Soren Brage,Stephen J. Chanock,Peter S. Chines,Mina K. Chung,Dawood Darbar,Christian Dina,Marcus Dörr,Paul Elliott,Stephan B. Felix,Krista Fischer,Christian Fuchsberger,Eco J. C. de Geus,Philippe Goyette,Vilmundur Gudnason,Tamara B. Harris,Anna-Liisa Hartikainen,Aki S. Havulinna,Susan R. Heckbert,Andrew A. Hicks,Albert Hofman,Suzanne Holewijn,Femke Hoogstra-Berends,Jouke-Jan Hottenga,Majken K. Jensen,Åsa Johansson,Juhani Junttila,Stefan Kääb,Bart Kanon,Shamika Ketkar,Kay-Tee Khaw,Joshua W. Knowles,Angad S. Kooner,Jan A. Kors,Meena Kumari,Lili Milani,Päivi Laiho,Edward G. Lakatta,Claudia Langenberg,Maarten Leusink,Yongmei Liu,Robert Luben,Kathryn L. Lunetta,Stacey N. Lynch,Marcello Ricardo Paulista Markus,Pedro Marques-Vidal,Irene Mateo Leach,Wendy L. McArdle,Steven A. McCarroll,Sarah E. Medland,Kathryn Miller,Grant W. Montgomery,Alanna C. Morrison,Martina Müller-Nurasyid,Pau Navarro,Mari Nelis,Jeffrey R. O'Connell,Christopher J. O'Donnell,Ken K. Ong,Anne B. Newman,Annette Peters,Ozren Polasek,Anneli Pouta,Peter P. Pramstaller,Bruce M. Psaty,Dabeeru C. Rao,Susan M. Ring,Elizabeth J. Rossin,Diana Rudan,Serena Sanna,Robert A. Scott,Jaban S. Sehmi,Stephen J. Sharp,Jordan T. Shin,Andrew B. Singleton,Albert V. Smith,Nicole Soranzo,Tim D. Spector,Chip Stewart,Heather M. Stringham,Kirill V. Tarasov,André G. Uitterlinden,Liesbeth Vandenput,Shih-Jen Hwang,John Whitfield,Cisca Wijmenga,Sarah H. Wild,Gonneke Willemsen,James F. Wilson,Jacqueline C. M. Witteman,Andrew Wong,Quenna Wong,Yalda Jamshidi,Paavo Zitting,Jolanda M. A. Boer,Dorret I. Boomsma,Ingrid B. Borecki,Cornelia M. van Duijn,Ulf Ekelund,Nita G. Forouhi,Philippe Froguel,Aroon D. Hingorani,Erik Ingelsson,Mika Kivimäki,Richard A. Kronmal,Diana Kuh,Lars Lind,Nicholas G. Martin,Ben A. Oostra,Nancy L. Pedersen,Thomas Quertermous,Jerome I. Rotter,Yvonne T. van der Schouw,W. M. Monique Verschuren,Mark Walker,Demetrius Albanes,David O. Arnar,Themistocles L. Assimes,Stefania Bandinelli,Michael Boehnke,Rudolf A. de Boer,Claude Bouchard,L Mark Caulfield W L Mark Caulfield,John C. Chambers,Gary C. Curhan,Daniele Cusi,Johan G. Eriksson,Luigi Ferrucci,Wiek H. van Gilst,Nicola Glorioso,Jacqueline de Graaf,Leif Groop,Ulf Gyllensten,Wen Chi Hsueh,Frank B. Hu,Heikki V. Huikuri,David J. Hunter,Carlos Iribarren,Bo Isomaa,Marjo-Riitta Järvelin,Antti Jula,Mika Kähönen,Lambertus A. Kiemeney,Melanie M. van der Klauw,Jaspal S. Kooner,Peter Kraft,Licia Iacoviello,Terho Lehtimäki,Marja-Liisa Lokki,Braxton D. Mitchell,Gerjan Navis,Markku S. Nieminen,Claes Ohlsson,Neil Poulter,Lu Qi,Olli T. Raitakari,Eric B. Rimm,John D. Rioux,Federica Rizzi,Igor Rudan,Veikko Salomaa,Peter S. Sever,Denis C. Shields,Alan R. Shuldiner,Juha Sinisalo,Alice Stanton,Ronald P. Stolk,David P. Strachan,Jean-Claude Tardif,Unnur Thorsteinsdottir,J. Tuomilehto,Dirk J. van Veldhuisen,Jarmo Virtamo,Jorma Viikari,Peter Vollenweider,Gérard Waeber,Elisabeth Widen,Yoon Shin Cho,Jesper V. Olsen,Peter M. Visscher,Cristen J. Willer,Lude Franke,Jeanette Erdmann,John R. Thompson,Arne Pfeufer,Nona Sotoodehnia,Christopher Newton-Cheh,Patrick T. Ellinor,Bruno H. Stricker,Andres Metspalu,Markus Perola,Jacques S. Beckmann,George Davey Smith,Kari Stefansson,Nicholas J. Wareham,Patricia B. Munroe,Ody C. M. Sibon,David J. Milan,Harold Snieder,Nilesh J. Samani,Ruth J. F. Loos +267 more
TL;DR: A 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci, providing fresh insights into the mechanisms regulating heart rate.
Journal ArticleDOI
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Georg Ehret,Georg Ehret,Teresa Ferreira,Daniel I. Chasman,Anne U. Jackson,Ellen M. Schmidt,Toby Johnson,Toby Johnson,Gudmar Thorleifsson,Jian'an Luan,Louise A. Donnelly,Stavroula Kanoni,Ann-Kristin Petersen,Vasyl Pihur,Rona J. Strawbridge,Dmitry Shungin,Dmitry Shungin,Maria Hughes,Osorio Meirelles,Marika Kaakinen,Nabila Bouatia-Naji,Nabila Bouatia-Naji,Kati Kristiansson,Kati Kristiansson,Sonia Shah,Marcus E. Kleber,Xiuqing Guo,Leo-Pekka Lyytikäinen,Cristiano Fava,Cristiano Fava,Niclas Eriksson,Ilja M. Nolte,Patrik K. E. Magnusson,Elias Salfati,Loukianos S. Rallidis,Elizabeth Theusch,Andrew J. Smith,Lasse Folkersen,Kate Witkowska,Tune H. Pers,Roby Joehanes,Stuart K. Kim,Lazaros Lataniotis,Rick Jansen,Andrew D. Johnson,Helen R. Warren,Young Jin Kim,Wei Zhao,Ying Wu,Bamidele O. Tayo,Murielle Bochud,Devin Absher,Linda S. Adair,Najaf Amin,Dan E. Arking,Tomas Axelsson,Damiano Baldassarre,Beverley Balkau,Stefania Bandinelli,Michael R. Barnes,Inês Barroso,Inês Barroso,Stephen Bevan,Joshua C. Bis,Gyda Bjornsdottir,Michael Boehnke,Eric Boerwinkle,Lori L. Bonnycastle,Dorret I. Boomsma,Stefan R. Bornstein,Morris Brown,Michel Burnier,Claudia P. Cabrera,John C. Chambers,John C. Chambers,John C. Chambers,I. Shou Chang,Ching-Yu Cheng,Ching-Yu Cheng,Peter S. Chines,Ren-Hua Chung,Francis S. Collins,John M. C. Connell,Angela Döring,Jean Dallongeville,John Danesh,John Danesh,Ulf de Faire,Graciela E. Delgado,Anna F. Dominiczak,Alex S. F. Doney,Fotios Drenos,Fotios Drenos,Sarah Edkins,John D. Eicher,Roberto Elosua,Stefan Enroth,Jeanette Erdmann,Per Eriksson,Tõnu Esko,Tõnu Esko,Tõnu Esko,Evangelos Evangelou,Evangelos Evangelou,Alun Evans,Tove Fall,Martin Farrall,Janine F. Felix,Jean Ferrières,Luigi Ferrucci,Myriam Fornage,Terrence Forrester,Nora Franceschini,Oscar H. Franco,Anders Franco-Cereceda,Ross M. Fraser,Santhi K. Ganesh,He Gao,Karl Gertow,Francesco Gianfagna,Bruna Gigante,Franco Giulianini,Anuj Goel,Alison H. Goodall,Alison H. Goodall,Mark O. Goodarzi,Mathias Gorski,Jürgen Gräßler,Christopher J. Groves,Vilmundur Gudnason,Ulf Gyllensten,Göran Hallmans,Anna-Liisa Hartikainen,Maija Hassinen,Aki S. Havulinna,Caroline Hayward,Serge Hercberg,Karl-Heinz Herzig,Andrew A. Hicks,Aroon D. Hingorani,Joel N. Hirschhorn,Joel N. Hirschhorn,Albert Hofman,Albert Hofman,Jostein Holmen,Oddgeir L. Holmen,Jouke-Jan Hottenga,Phil Howard,Chao A. Hsiung,Steven C. Hunt,Steven C. Hunt,M. Arfan Ikram,Thomas Illig,Carlos Iribarren,Richard A. Jensen,Mika Kähönen,Hyun Min Kang,Sekar Kathiresan,Sekar Kathiresan,Brendan J. Keating,Kay-Tee Khaw,Yun Kyoung Kim,Eric Kim,Mika Kivimäki,Norman Klopp,Genovefa Kolovou,Pirjo Komulainen,Jaspal S. Kooner,Jaspal S. Kooner,Jaspal S. Kooner,Gulum Kosova,Gulum Kosova,Ronald M. Krauss,Diana Kuh,Zoltán Kutalik,Zoltán Kutalik,Johanna Kuusisto,Kirsti Kvaløy,Timo A. Lakka,Nanette R. Lee,I. Te Lee,Wen Jane Lee,Daniel Levy,Xiaohui Li,Kae Woei Liang,Honghuang Lin,Honghuang Lin,Li Lin,Jaana Lindström,Stéphane Lobbens,Stéphane Lobbens,Satu Männistö,Gabriele Müller,Martina Müller-Nurasyid,François Mach,Hugh S. Markus,Eirini Marouli,Eirini Marouli,Mark I. McCarthy,Colin A. McKenzie,Pierre Meneton,Cristina Menni,Andres Metspalu,Vladan Mijatovic,Leena Moilanen,Leena Moilanen,May E. Montasser,Andrew D. Morris,Alanna C. Morrison,Antonella Mulas,Ramaiah Nagaraja,Narisu Narisu,Kjell Nikus,Christopher J. O'Donnell,Christopher J. O'Donnell,Paul F. O'Reilly,Ken K. Ong,Fred Paccaud,Cameron D. Palmer,Cameron D. Palmer,Afshin Parsa,Nancy L. Pedersen,Brenda W.J.H. Penninx,Brenda W.J.H. Penninx,Brenda W.J.H. Penninx,Markus Perola,Markus Perola,Markus Perola,Annette Peters,Neil Poulter,Peter P. Pramstaller,Bruce M. Psaty,Bruce M. Psaty,Bruce M. Psaty,Thomas Quertermous,Dabeeru C. Rao,Asif Rasheed,N. William Rayner,N. William Rayner,Frida Renström,Frida Renström,Rainer Rettig,Kenneth Rice,Robert Roberts,Lynda M. Rose,Jacques E. Rossouw,Nilesh J. Samani,Nilesh J. Samani,Serena Sanna,Jouko Saramies,Heribert Schunkert,Sylvain Sebert,Sylvain Sebert,Wayne Huey-Herng Sheu,Wayne Huey-Herng Sheu,Young Ah Shin,Xueling Sim,Xueling Sim,Johannes H. Smit,Albert V. Smith,Maria X. Sosa,Tim D. Spector,Alena Stančáková,Alice Stanton,Kathleen Stirrups,Kathleen Stirrups,Heather M. Stringham,Johan Sundström,Amy J. Swift,Ann-Christine Syvänen,E. Shyong Tai,Toshiko Tanaka,Kirill V. Tarasov,Alexander Teumer,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Martin D. Tobin,Elena Tremoli,André G. Uitterlinden,Matti Uusitupa,Ahmad Vaez,Ahmad Vaez,Dhananjay Vaidya,Cornelia M. van Duijn,Erik P A Van Iperen,Ramachandran S. Vasan,Ramachandran S. Vasan,Germaine C. Verwoert,Jarmo Virtamo,Veronique Vitart,Benjamin F. Voight,Peter Vollenweider,Aline Wagner,Louise V. Wain,Nicholas J. Wareham,Hugh Watkins,Alan B. Weder,Harm-Jan Westra,Rainford J. Wilks,Tom Wilsgaard,James F. Wilson,Tien Yin Wong,Tien Yin Wong,Tsun-Po Yang,Tsun-Po Yang,Jie Yao,Loic Yengo,Loic Yengo,Weihua Zhang,Weihua Zhang,Jing Hua Zhao,Xiaofeng Zhu,Pascal Bovet,Richard S. Cooper,Karen L. Mohlke,Danish Saleheen,Jong-Young Lee,Paul Elliott,Hinco J. Gierman,Hinco J. Gierman,Cristen J. Willer,Lude Franke,G. Kees Hovingh,Kent D. Taylor,George Dedoussis,Peter S. Sever,Andrew Wong,Lars Lind,Themistocles L. Assimes,Inger Njølstad,Peter Schwarz,Claudia Langenberg,Harold Snieder,Mark J. Caulfield,Olle Melander,Markku Laakso,Juha Saltevo,Rainer Rauramaa,Jaakko Tuomilehto,Erik Ingelsson,Erik Ingelsson,Terho Lehtimäki,Kristian Hveem,Walter Palmas,Winfried März,Winfried März,Meena Kumari,Veikko Salomaa,Yii-Der Ida Chen,Jerome I. Rotter,Philippe Froguel,Marjo-Riitta Järvelin,Marjo-Riitta Järvelin,Edward G. Lakatta,Kari Kuulasmaa,Paul W. Franks,Paul W. Franks,Paul W. Franks,Anders Hamsten,H.-Erich Wichmann,H.-Erich Wichmann,Colin N. A. Palmer,Kari Stefansson,Kari Stefansson,Paul M. Ridker,Ruth J. F. Loos,Ruth J. F. Loos,Aravinda Chakravarti,Panos Deloukas,Panos Deloukas,Andrew P. Morris,Andrew P. Morris,Christopher Newton-Cheh,Christopher Newton-Cheh,Christopher Newton-Cheh,Patricia B. Munroe +375 more
TL;DR: In this article, the authors identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals, and 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues.
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Journal ArticleDOI
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Ewan Birney,John A. Stamatoyannopoulos,Anindya Dutta,Roderic Guigó,Thomas R. Gingeras,Elliott H. Margulies,Zhiping Weng,Michael Snyder,Emmanouil T. Dermitzakis,Robert E. Thurman,Michael S. Kuehn,Christopher M. Taylor,Shane Neph,Christoph M. Koch,Saurabh Asthana,Ankit Malhotra,Ivan Adzhubei,Jason A. Greenbaum,Robert M. Andrews,Paul Flicek,Patrick J. Boyle,Hua Cao,Nigel P. Carter,Gayle K. Clelland,Sean Davis,Nathan Day,Pawandeep Dhami,Shane C. Dillon,Michael O. Dorschner,Heike Fiegler,Paul G. Giresi,Jeff Goldy,Michael Hawrylycz,Andrew Haydock,Richard Humbert,Keith D. James,Brett E. Johnson,Ericka M. Johnson,Tristan Frum,Elizabeth Rosenzweig,Neerja Karnani,Kirsten Lee,Gregory Lefebvre,Patrick A. Navas,Fidencio Neri,Stephen C. J. Parker,Peter J. Sabo,Richard Sandstrom,Anthony Shafer,David Vetrie,Molly Weaver,Sarah Wilcox,Man Yu,Francis S. Collins,Job Dekker,Jason D. Lieb,Thomas D. Tullius,Gregory E. Crawford,Shamil R. Sunyaev,William Stafford Noble,Ian Dunham,Alexandre Reymond,Alexandre Reymond,Philipp Kapranov,Joel Rozowsky,Deyou Zheng,Robert Castelo,Adam Frankish,Jennifer Harrow,Srinka Ghosh,Albin Sandelin,Ivo L. Hofacker,Robert Baertsch,Damian Keefe,Sujit Dike,Jill Cheng,Heather A. Hirsch,Edward A. Sekinger,Julien Lagarde,Josep F. Abril,Josep F. Abril,Atif Shahab,Christoph Flamm,Christoph Flamm,Claudia Fried,Jörg Hackermüller,Jana Hertel,Manja Lindemeyer,Kristin Missal,Andrea Tanzer,Andrea Tanzer,Stefan Washietl,Jan O. Korbel,Olof Emanuelsson,Jakob Skou Pedersen,Nancy Holroyd,Ruth Taylor,David Swarbreck,Nicholas Matthews,Mark Dickson,Daryl J. Thomas,Matthew T. Weirauch,James G. R. Gilbert,Jorg Drenkow,Ian Bell,Xiaodong Zhao,Kandhadayar G. Srinivasan,Wing-Kin Sung,Hong Sain Ooi,Kuo Ping Chiu,Sylvain Foissac,Tyler Alioto,Michael R. Brent,Lior Pachter,Michael L. Tress,Alfonso Valencia,Siew Woh Choo,Chiou Yu Choo,Catherine Ucla,Caroline Manzano,Carine Wyss,Evelyn Cheung,Taane G. Clark,James B. Brown,Madhavan Ganesh,Sandeep Patel,Hari Tammana,Jacqueline Chrast,Charlotte N. Henrichsen,Chikatoshi Kai,Jun Kawai,Ugrappa Nagalakshmi,Jia Qian Wu,Zheng Lian,Jin Lian,Peter E. Newburger,Xueqing Zhang,Peter J. Bickel,John S. Mattick,Piero Carninci,Yoshihide Hayashizaki,Sherman M. Weissman,Tim Hubbard,Richard M. Myers,Jane Rogers,Peter F. Stadler,Peter F. Stadler,Peter F. Stadler,Todd M. Lowe,Chia-Lin Wei,Yijun Ruan,Kevin Struhl,Mark Gerstein,Stylianos E. Antonarakis,Yutao Fu,Eric D. Green,Ulas Karaoz,Adam Siepel,Adam Siepel,James Taylor,Laura A. Liefer,Kris A. Wetterstrand,Peter J. Good,Elise A. Feingold,Mark S. Guyer,Gregory M. Cooper,Gregory M. Cooper,George Asimenos,Colin N. Dewey,Minmei Hou,Sergey Nikolaev,Juan I. Montoya-Burgos,Ari Löytynoja,Simon Whelan,Fabio Pardi,Tim Massingham,Haiyan Huang,Nan Zhang,Nan Zhang,Ian Holmes,James C. Mullikin,Abel Ureta-Vidal,Benedict Paten,Michael Seringhaus,Deanna M. Church,Kate R. Rosenbloom,W. James Kent,Eric A. Stone,Serafim Batzoglou,Nick Goldman,Ross C. Hardison,David Haussler,Webb Miller,Arend Sidow,Nathan D. Trinklein,Zhengdong D. Zhang,Leah O. Barrera,Rhona K. Stuart,David C. King,Adam Ameur,Stefan Enroth,Mark Bieda,Jonghwan Kim,Akshay Bhinge,Nan Jiang,Jun Liu,Fei Yao,Vinsensius B. Vega,Charlie W.H. Lee,Patrick Ng,Annie Yang,Zarmik Moqtaderi,Zhou Zhu,Xiaoqin Xu,Sharon L. Squazzo,Matthew J. Oberley,David R. Inman,Michael A. Singer,Todd Richmond,Kyle J. Munn,Kyle J. Munn,Alvaro Rada-Iglesias,Ola Wallerman,Jan Komorowski,Joanna C. Fowler,Phillippe Couttet,Alexander W. Bruce,Oliver M. Dovey,Peter D. Ellis,Cordelia Langford,David A. Nix,Ghia Euskirchen,Stephen Hartman,Alexander E. Urban,Peter Kraus,Sara Van Calcar,Nate Heintzman,Tae Hoon Kim,Kun Wang,Chunxu Qu,Gary C. Hon,Rosa Luna,Christopher K. Glass,M. Geoff Rosenfeld,Shelley Force Aldred,Sara J. Cooper,Anason S. Halees,Jane M. Lin,Hennady P. Shulha,Xiaoling Zhang,Mousheng Xu,Jaafar N. Haidar,Yong Yu,Vishwanath R. Iyer,Roland Green,Claes Wadelius,Peggy J. Farnham,Bing Ren,Rachel A. Harte,Angie S. Hinrichs,Heather Trumbower,Hiram Clawson,Jennifer Hillman-Jackson,Ann S. Zweig,Kayla E. Smith,Archana Thakkapallayil,Galt P. Barber,Robert M. Kuhn,Donna Karolchik,Lluís Armengol,Christine P. Bird,Paul I.W. de Bakker,Andrew D. Kern,Nuria Lopez-Bigas,Joel D. Martin,Barbara E. Stranger,Abigail Woodroffe,Eugene Davydov,Antigone S. Dimas,Eduardo Eyras,Ingileif B. Hallgrímsdóttir,Julian L. Huppert,Michael C. Zody,Gonçalo R. Abecasis,Xavier Estivill,Gerard G. Bouffard,Xiaobin Guan,Nancy F. Hansen,Jacquelyn R. Idol,Valerie Maduro,Baishali Maskeri,Jennifer C. McDowell,Morgan Park,Pamela J. Thomas,Alice C. Young,Robert W. Blakesley,Donna M. Muzny,Erica Sodergren,David A. Wheeler,Kim C. Worley,Huaiyang Jiang,George M. Weinstock,Richard A. Gibbs,Tina Graves,Robert S. Fulton,Elaine R. Mardis,Richard K. Wilson,Michele Clamp,James Cuff,Sante Gnerre,David B. Jaffe,Jean L. Chang,Kerstin Lindblad-Toh,Eric S. Lander,Eric S. Lander,Maxim Koriabine,Mikhail Nefedov,Kazutoyo Osoegawa,Yuko Yoshinaga,Baoli Zhu,Pieter J. de Jong +320 more
TL;DR: Functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project are reported, providing convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts.
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