A
Aliki-Eleni Farmaki
Researcher at Harokopio University
Publications - 44
Citations - 7221
Aliki-Eleni Farmaki is an academic researcher from Harokopio University. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 21, co-authored 37 publications receiving 5980 citations. Previous affiliations of Aliki-Eleni Farmaki include University of Leicester & National and Kapodistrian University of Athens.
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Journal ArticleDOI
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.
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,Carlo Sidorel,Alan Kwong,Nicholas J. Timpson,Seppo Koskinen,Scott I. Vrieze,Laura J. Scott,He Zhang,Anubha Mahajan,Jan H. Veldink,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,Chad M. Brummett,Fabio Busonero,Harry Campbell,Andrew T. Chan,Sai Che,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,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,Michele T. Pato,Nicola Pirastu,Melvin G. McInnis,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,Klaudia Walter,Anand Swaroop,Francesco Cucca,Carl A. Anderson,Richard M. Myers,Michael Boehnke,Mark I. McCarthy,Richard Durbin,Gonçalo R. Abecasis,Jonathan Marchini +110 more
TL;DR: In this article, 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 is presented.
Journal ArticleDOI
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
Thomas W. Winkler,Anne E. Justice,Mariaelisa Graff,Llilda Barata,Mary F. Feitosa,Su H. Chu,Jacek Czajkowski,Tõnu Esko,Tove Fall,Tuomas O. Kilpeläinen,Yingchang Lu,Reedik Mägi,Evelin Mihailov,Tune H. Pers,Sina Rüeger,Alexander Teumer,Georg Ehret,Teresa Ferreira,Nancy L. Heard-Costa,Juha Karjalainen,Vasiliki Lagou,Anubha Mahajan,Michael D. Neinast,Inga Prokopenko,Jeannette Simino,Tanya M. Teslovich,Rick Jansen,Harm-Jan Westra,Charles C. White,Devin Absher,Tarunveer S. Ahluwalia,Shafqat Ahmad,Eva Albrecht,Alexessander Couto Alves,Jennifer L. Bragg-Gresham,Anton J. M. de Craen,Joshua C. Bis,Amélie Bonnefond,Gabrielle Boucher,Gemma Cadby,Yu-Ching Cheng,Charleston W. K. Chiang,Graciela Delgado,Ayse Demirkan,Nicole Dueker,Niina Eklund,Gudny Eiriksdottir,Joel Eriksson,Bjarke Feenstra,Krista Fischer,Francesca Frau,Tessel E. Galesloot,Frank Geller,Anuj Goel,Mathias Gorski,Tanja B. Grammer,Stefan Gustafsson,Saskia Haitjema,Jouke-Jan Hottenga,Jennifer E. Huffman,Anne U. Jackson,Kevin B. Jacobs,Åsa Johansson,Marika Kaakinen,Marcus E. Kleber,Jari Lahti,Irene Mateo Leach,Benjamin Lehne,Youfang Liu,Ken Sin Lo,Mattias Lorentzon,Jian'an Luan,Pamela A. F. Madden,Massimo Mangino,Barbara McKnight,Carolina Medina-Gomez,Keri L. Monda,May E. Montasser,Gabriele Müller,Martina Müller-Nurasyid,Ilja M. Nolte,Kalliope Panoutsopoulou,Laura Pascoe,Lavinia Paternoster,Nigel W. Rayner,Frida Renström,Federica Rizzi,Lynda M. Rose,Kathy Ryan,Perttu Salo,Serena Sanna,Hubert Scharnagl,Jianxin Shi,Albert V. Smith,Lorraine Southam,Alena Stančáková,Valgerdur Steinthorsdottir,Rona J. Strawbridge,Yun Ju Sung,Ioanna Tachmazidou,Toshiko Tanaka,Gudmar Thorleifsson,Stella Trompet,Natalia Pervjakova,Jonathan Tyrer,Liesbeth Vandenput,Sander W. van der Laan,Nathalie van der Velde,Jessica van Setten,Jana V. van Vliet-Ostaptchouk,Niek Verweij,Efthymia Vlachopoulou,Lindsay L. Waite,Sophie R. Wang,Zhaoming Wang,Sarah H. Wild,Christina Willenborg,James F. Wilson,Andrew Wong,Jian Yang,Loic Yengo,Laura M. Yerges-Armstrong,Lei Yu,Weihua Zhang,Jing Hua Zhao,Ehm A. Andersson,Stephan J. L. Bakker,Damiano Baldassarre,Karina Banasik,Matteo Barcella,Cristina Barlassina,Claire Bellis,Paola Benaglio,John Blangero,Matthias Blüher,Fabrice Bonnet,Lori L. Bonnycastle,Heather A. Boyd,Marcel Bruinenberg,Aron S. Buchman,Harry Campbell,Yii-Der Ida Chen,Peter S. Chines,Simone Claudi-Boehm,John B. Cole,Francis S. Collins,Eco J. C. de Geus,Lisette C. P. G. M. de Groot,Maria Dimitriou,Jubao Duan,Stefan Enroth,Elodie Eury,Aliki-Eleni Farmaki,Nita G. Forouhi,Nele Friedrich,Pablo V. Gejman,Bruna Gigante,Nicola Glorioso,Alan S. Go,Omri Gottesman,Jürgen Gräßler,Harald Grallert,Niels Grarup,Yu Mei Gu,Linda Broer,Annelies C. Ham,Torben Hansen,Tamara B. Harris,Catharina A. Hartman,Maija Hassinen,Nicholas D. Hastie,Andrew T. Hattersley,Andrew C. Heath,Anjali K. Henders,Dena G. Hernandez,Hans L. Hillege,Oddgeir L. Holmen,Kees Hovingh,Jennie Hui,Lise Lotte N. Husemoen,Nina Hutri-Kähönen,Pirro G. Hysi,Thomas Illig,Philip L. De Jager,Shapour Jalilzadeh,Torben Jørgensen,J. Wouter Jukema,Markus Juonala,Stavroula Kanoni,Maria Karaleftheri,Kay-Tee Khaw,Leena Kinnunen,Steven J. Kittner,Wolfgang Koenig,Ivana Kolcic,Peter Kovacs,Nikolaj T. Krarup,Wolfgang Kratzer,Janine Krüger,Diana Kuh,Meena Kumari,Theodosios Kyriakou,Claudia Langenberg,Lars Lannfelt,Chiara Lanzani,Vaneet Lotay,Lenore J. Launer,Karin Leander,Jaana Lindström,Allan Linneberg,Yan Ping Liu,Stéphane Lobbens,Robert Luben,Valeriya Lyssenko,Satu Männistö,Patrik K. E. Magnusson,Wendy L. McArdle,Cristina Menni,Sigrun Merger,Lili Milani,Grant W. Montgomery,Andrew P. Morris,Narisu Narisu,Mari Nelis,Ken K. Ong,Aarno Palotie,Louis Pérusse,Irene Pichler,Maria Grazia Pilia,Anneli Pouta,Myriam Rheinberger,Rasmus Ribel-Madsen,Marcus Richards,Kenneth Rice,Treva Rice,Carlo Rivolta,Veikko Salomaa,Alan R. Sanders,Mark A. Sarzynski,Salome Scholtens,Robert A. Scott,William R. Scott,Sylvain Sebert,Sebanti Sengupta,Bengt Sennblad,Thomas Seufferlein,Angela Silveira,P. Eline Slagboom,Jan Smit,Thomas Sparsø,Kathleen Stirrups,Ronald P. Stolk,Heather M. Stringham,Morris A. Swertz,Amy J. Swift,Ann-Christine Syvänen,Sian Tsung Tan,Barbara Thorand,Anke Tönjes,Angelo Tremblay,Emmanouil Tsafantakis,Peter J. van der Most,Uwe Völker,Marie-Claude Vohl,Judith M. Vonk,Melanie Waldenberger,Ryan W. Walker,Roman Wennauer,Elisabeth Widen,Gonneke Willemsen,Tom Wilsgaard,Alan F. Wright,M. Carola Zillikens,Suzanne C. van Dijk,Natasja M. van Schoor,Folkert W. Asselbergs,Paul I.W. de Bakker,Jacques S. Beckmann,John Beilby,David A. Bennett,Richard N. Bergman,Sven Bergmann,Carsten A. Böger,Bernhard O. Boehm,Eric Boerwinkle,Dorret I. Boomsma,Stefan R. Bornstein,Erwin P. Bottinger,Claude Bouchard,John C. Chambers,Stephen J. Chanock,Daniel I. Chasman,Francesco Cucca,Daniele Cusi,George Dedoussis,Jeanette Erdmann,Johan G. Eriksson,Denis A. Evans,Ulf de Faire,Martin Farrall,Luigi Ferrucci,Ian Ford,Lude Franke,Paul W. Franks,Philippe Froguel,Ron T. Gansevoort,Christian Gieger,Henrik Grönberg,Vilmundur Gudnason,Ulf Gyllensten,Per Hall,Anders Hamsten,Pim van der Harst,Caroline Hayward,Markku Heliövaara,Christian Hengstenberg,Andrew A. Hicks,Aroon D. Hingorani,Albert Hofman,Frank B. Hu,Heikki V. Huikuri,Kristian Hveem,Alan L. James,Joanne M. Jordan,Antti Jula,Mika Kähönen,Eero Kajantie,Sekar Kathiresan,Lambertus A. Kiemeney,Mika Kivimäki,Paul Knekt,Heikki A. Koistinen,Jaspal S. Kooner,Seppo Koskinen,Johanna Kuusisto,Winfried Maerz,Nicholas G. Martin,Markku Laakso,Timo A. Lakka,Terho Lehtimäki,Guillaume Lettre,Douglas F. Levinson,Lars Lind,Marja-Liisa Lokki,Pekka Mäntyselkä,Mads Melbye,Andres Metspalu,Braxton D. Mitchell,Frans L. Moll,Jeffrey C. Murray,Arthur W. Musk,Markku S. Nieminen,Inger Njølstad,Claes Ohlsson,Albertine J. Oldehinkel,Ben A. Oostra,Lyle J. Palmer,James S. Pankow,Gerard Pasterkamp,Nancy L. Pedersen,Oluf Pedersen,Brenda W.J.H. Penninx,Markus Perola,Annette Peters,Ozren Polasek,Peter P. Pramstaller,Bruce M. Psaty,Lu Qi,Thomas Quertermous,Olli T. Raitakari,Tuomo Rankinen,Rainer Rauramaa,Paul M. Ridker,John D. Rioux,Fernando Rivadeneira,Jerome I. Rotter,Igor Rudan,Hester M. den Ruijter,Juha Saltevo,Naveed Sattar,Heribert Schunkert,Peter Schwarz,Alan R. Shuldiner,Juha Sinisalo,Harold Snieder,Thorkild I. A. Sørensen,Tim D. Spector,Jan A. Staessen,Bandinelli Stefania,Unnur Thorsteinsdottir,Michael Stumvoll,Jean-Claude Tardif,Elena Tremoli,Jaakko Tuomilehto,André G. Uitterlinden,Matti Uusitupa,André L. M. Verbeek,Sita H. Vermeulen,Jorma Viikari,Veronique Vitart,Henry Völzke,Peter Vollenweider,Gérard Waeber,Mark Walker,Henri Wallaschofski,Nicholas J. Wareham,Hugh Watkins,Eleftheria Zeggini,Aravinda Chakravarti,Deborah J. Clegg,L. Adrienne Cupples,Penny Gordon-Larsen,Cashell E. Jaquish,Dabeeru C. Rao,Gonçalo R. Abecasis,Themistocles L. Assimes,Inês Barroso,Sonja I. Berndt,Michael Boehnke,Panos Deloukas,Caroline S. Fox,Leif Groop,David J. Hunter,Erik Ingelsson,Robert C. Kaplan,Mark I. McCarthy,Karen L. Mohlke,Jeffrey R. O'Connell,David Schlessinger,David P. Strachan,Kari Stefansson,Cornelia M. van Duijn,Joel N. Hirschhorn,Cecilia M. Lindgren,Iris M. Heid,Kari E. North,Ingrid B. Borecki,Zoltán Kutalik,Ruth J. F. Loos +438 more
TL;DR: In this paper, the authors performed meta-analyses of 114 studies with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium.
Journal ArticleDOI
Exome-wide association study of plasma lipids in > 300,000 individuals
Dajiang J. Liu,Gina M. Peloso,Gina M. Peloso,Haojie Yu,Adam S. Butterworth,Adam S. Butterworth,Xiao Wang,Anubha Mahajan,Danish Saleheen,Danish Saleheen,Connor A. Emdin,Connor A. Emdin,Dewan S. Alam,Alexessander Couto Alves,Philippe Amouyel,Emanuele Di Angelantonio,Emanuele Di Angelantonio,Dominique Arveiler,Themistocles L. Assimes,Themistocles L. Assimes,Paul L. Auer,Usman Baber,Christie M. Ballantyne,Lia E. Bang,Marianne Benn,Joshua C. Bis,Michael Boehnke,Eric Boerwinkle,Eric Boerwinkle,Jette Bork-Jensen,Erwin P. Bottinger,Ivan Brandslund,Morris J. Brown,Fabio Busonero,Mark J. Caulfield,John C. Chambers,John C. Chambers,John C. Chambers,Daniel I. Chasman,Daniel I. Chasman,Y. Eugene Chen,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audrey Y. Chu,Audrey Y. Chu,John M. C. Connell,Francesco Cucca,L. Adrienne Cupples,L. Adrienne Cupples,Scott M. Damrauer,Scott M. Damrauer,Gail Davies,Ian J. Deary,George Dedoussis,Joshua C. Denny,Anna F. Dominiczak,Marie-Pierre Dubé,Marie-Pierre Dubé,Tapani Ebeling,Gudny Eiriksdottir,Tõnu Esko,Tõnu Esko,Aliki-Eleni Farmaki,Mary F. Feitosa,Marco M Ferrario,Jean Ferrières,Ian Ford,Myriam Fornage,Paul W. Franks,Paul W. Franks,Paul W. Franks,Timothy M. Frayling,Ruth Frikke-Schmidt,Lars G. Fritsche,Philippe M. Frossard,Valentin Fuster,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,Torben Hansen,Tamara B. Harris,Caroline Hayward,Joel N. Hirschhorn,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,Marit E. Jørgensen,J. Wouter Jukema,Johanne Marie Justesen,Pia R. Kamstrup,Stavroula Kanoni,Fredrik Karpe,Frank Kee,Amit Khera,Amit Khera,Derek Klarin,Derek Klarin,Derek Klarin,Heikki A. Koistinen,Heikki A. Koistinen,Heikki A. Koistinen,Jaspal S. Kooner,Jaspal S. Kooner,Jaspal S. Kooner,Charles Kooperberg,Kari Kuulasmaa,Johanna Kuusisto,Markku Laakso,Timo A. Lakka,Claudia Langenberg,Anne Langsted,Anne Langsted,Lenore J. Launer,Torsten Lauritzen,David C. Liewald,Li-An Lin,Allan Linneberg,Ruth J. F. Loos,Yingchang Lu,Xiangfeng Lu,Xiangfeng Lu,Reedik Mägi,Anders Mälarstig,Anders Mälarstig,Ani Manichaikul,Alisa K. Manning,Alisa K. Manning,Pekka Mäntyselkä,Eirini Marouli,Nicholas G. D. Masca,Nicholas G. D. Masca,Andrea Maschio,James B. Meigs,James B. Meigs,Olle Melander,Andres Metspalu,Andrew P. Morris,Andrew P. Morris,Alanna C. Morrison,Antonella Mulas,Martina Müller-Nurasyid,Patricia B. Munroe,Matt Neville,Jonas B. Nielsen,Sune F. Nielsen,Sune F. Nielsen,Børge G. Nordestgaard,Børge G. Nordestgaard,Jose M. Ordovas,Jose M. Ordovas,Roxana Mehran,C.J. O'Donnell,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,Markus Perola,Annette Peters,Charlotta Pisinger,Giorgio Pistis,Ozren Polasek,Ozren Polasek,Neil Poulter,Bruce M. Psaty,Bruce M. Psaty,Daniel J. Rader,Asif Rasheed,Rainer Rauramaa,Dermot F. Reilly,Alexander P. Reiner,Alexander P. Reiner,Frida Renström,Frida Renström,Stephen S. Rich,Paul M. Ridker,John D. Rioux,Neil R. Robertson,Neil R. Robertson,Dan M. Roden,Jerome I. Rotter,Igor Rudan,Veikko Salomaa,Nilesh J. Samani,Nilesh J. Samani,Serena Sanna,Naveed Sattar,Naveed Sattar,Ellen M. Schmidt,Robert A. Scott,Peter S. Sever,Raquel S. Sevilla,Christian M. Shaffer,Xueling Sim,Xueling Sim,Suthesh Sivapalaratnam,Kerrin S. Small,Albert V. Smith,Blair H. Smith,Blair H. Smith,Blair H. Smith,Sangeetha Somayajula,Lorraine Southam,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,John M. Starr,Kathleen Stirrups,Kathleen Stirrups,Nathan O. Stitziel,Konstantin Strauch,Heather M. Stringham,Praveen Surendran,Hayato Tada,Alan R. Tall,Hua Tang,Jean-Claude Tardif,Jean-Claude Tardif,Kent D. Taylor,Stella Trompet,Philip S. Tsao,Philip S. Tsao,Jaakko Tuomilehto,Anne Tybjærg-Hansen,Natalie R. van Zuydam,Natalie R. van Zuydam,Anette Varbo,Anette Varbo,Tibor V. Varga,Jarmo Virtamo,Melanie Waldenberger,Nan Wang,Nicholas J. Wareham,Helen R. Warren,Peter Weeke,Peter Weeke,Joshua S. Weinstock,Jennifer Wessel,James G. Wilson,Peter W.F. 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,John Danesh,John Danesh,Mark I. McCarthy,Mark I. McCarthy,Chad A. Cowan,Gonçalo R. Abecasis,Panos Deloukas,Panos Deloukas,Kiran Musunuru,Cristen J. Willer,Sekar Kathiresan +288 more
TL;DR: It is found that beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD), and only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and TG-lowering alleles involved in hepatic production of TG-rich lipoproteins tracked with higher liver fat, higher risk for T2D, and lower risk for CAD.
Rare and low-frequency coding variants alter human adult height
Eirini Marouli,Mariaelisa Graff,Carolina Medina-Gomez,Ken Sin Lo,Andrew R. Wood,Troels R. Kjaer,Rebecca S. Fine,Yingchang Lu,Claudia Schurmann,Heather M. Highland,Sina Rüeger,Gudmar Thorleifsson,Anne E. Justice,David Lamparter,Kathleen Stirrups,Valérie Turcot,Kristin L. Young,Thomas W. Winkler,Tõnu Esko,Tugce Karaderi,Adam E. Locke,Nicholas G. D. Masca,Maggie C.Y. Ng,Poorva Mudgal,Manuel A. Rivas,Sailaja Vedantam,Anubha Mahajan,Xiuqing Guo,Gonçalo R. Abecasis,Katja K.H. Aben,Linda S. Adair,Dewan S. Alam,Eva Albrecht,Kristine H. Allin,Matthew A. Allison,Philippe Amouyel,Emil V. R. Appel,Dominique Arveiler,Folkert W. Asselbergs,Paul L. Auer,Beverley Balkau,Bernhard Banas,Lia E. Bang,Marianne Benn,Sven Bergmann,Lawrence F. Bielak,Matthias Blueher,Heiner Boeing,Eric Boerwinkle,Carsten A. Boeger,Lori L. Bonnycastle,Jette Bork-Jensen,Michiel L. Bots,Erwin P. Bottinger,Donald W. Bowden,Ivan Brandslund,Gerome Breen,Murray H. Brilliant,Linda Broer,Amber A. Burt,Adam S. Butterworth,David J. Carey,Mark J. Caulfield,John C. Chambers,Daniel I. Chasman,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audrey Y. Chu,Massimiliano Cocca,Francis S. Collins,James P. Cook,Janie Corley,Jordi Corominas Galbany,Amanda J. Cox,Gabriel Cuellar-Partida,John Danesh,Gail Davies,Paul I.W. de Bakker,Gert J. de Borst,Simon de Denus,Mark C.H. De Groot,Renée de Mutsert,Ian J. Deary,George Dedoussis,Ellen W. Demerath,Anneke I. den Hollander,Joe Dennis,Emanuele Di Angelantonio,Fotios Drenos,Mengmeng Du,Alison M. Dunning,Douglas F. Easton,Tapani Ebeling,Todd L. Edwards,Patrick T. Ellinor,Paul Elliott,Evangelos Evangelou,Aliki-Eleni Farmaki,Jessica D. Faul,Mary F. Feitosa,Shuang Feng,Ele Ferrannini,Marco M Ferrario,Jean Ferrières,Jose C. Florez,Ian Ford,Myriam Fornage,Paul W. Franks,Ruth Frikke-Schmidt,Tessel E. Galesloot,Wei Gan,Ilaria Gandin,Paolo Gasparini,Vilmantas Giedraitis,Ayush Giri,Giorgia Girotto,Scott D. Gordon,Penny Gordon-Larsen,Mathias Gorski,Niels Grarup,Megan L. Grove,Vilmundur Gudnason,Stefan Gustafsson,Torben Hansen,Kathleen Mullan Harris,Tamara B. Harris,Andrew T. Hattersley,Caroline Hayward,Liang He,Iris M. Heid,Kauko Heikkilä,Øyvind Helgeland,Jussi Hernesniemi,Alex W. Hewitt,Lynne J. Hocking,Mette Hollensted,Oddgeir L. Holmen,G. Kees Hovingh,Joanna M. M. Howson,Carel B. Hoyng,Paul L. Huang,Kristian Hveem,M. Arfan Ikram,Erik Ingelsson,Anne U. Jackson,Jan-Håkan Jansson,Gail P. Jarvik,Gorm B. Jensen,Min A. Jhun,Yucheng Jia,Xuejuan Jiang,Stefan Johansson,Marit E. Jørgensen,Torben Jørgensen,Pekka Jousilahti,J. Wouter Jukema,Bratati Kahali,René S. Kahn,Mika Kähönen,Pia R. Kamstrup,Stavroula Kanoni,Jaakko Kaprio,Maria Karaleftheri,Sharon L.R. Kardia,Fredrik Karpe,Frank Kee,Renske Keeman,Lambertus A. Kiemeney,Hidetoshi Kitajima,Kirsten B. Kluivers,Thomas D. Kocher,Pirjo Komulainen,Jukka Kontto,Jaspal S. Kooner,Charles Kooperberg,Peter Kovacs,Jennifer Kriebel,Helena Kuivaniemi,Sébastien Küry,Johanna Kuusisto,Martina La Bianca,Markku Laakso,Timo A. Lakka,Ethan M. Lange,Leslie A. Lange,Carl D. Langefeld,Claudia Langenberg,Eric B. Larson,I-Te Lee,Terho Lehtimäki,Cora E. Lewis,Huaixing Li,Jin Li,Ruifang Li-Gao,Honghuang Lin,Li-An Lin,Xu Lin,Lars Lind,Jaana Lindström,Allan Linneberg,Y Liu,Yongmei Liu,Artitaya Lophatananon,Jian'an Luan,Steven A. Lubitz,Leo-Pekka Lyytikäinen,David A. Mackey,Pamela A. F. Madden,Alisa K. Manning,Satu Männistö,Gaëlle Marenne,Jonathan Marten,Nicholas G. Martin,Angela L. Mazul,Karina Meidtner,Andres Metspalu,Paul Mitchell,Karen L. Mohlke,Dennis O. Mook-Kanamori,Anna Morgan,Andrew D. Morris,Andrew P. Morris,Martina Mueller-Nurasyid,Patricia B. Munroe,Mike A. Nalls,Matthias Nauck,Christopher P. Nelson,Matt Neville,Sune F. Nielsen,Kjell Nikus,Pål R. Njølstad,Børge G. Nordestgaard,Ioanna Ntalla,Jeffrey R. O'Connel,Heikki Oksa,Loes M. Olde Loohuis,Roel A. Ophoff,Katharine R. Owen,Chris J. Packard,Sandosh Padmanabhan,Colin N. A. Palmer,Gerard Pasterkamp,Aniruddh P. Patel,Alison Pattie,Oluf Pedersen,Peggy L. Peissig,Gina M. Peloso,Craig E. Pennell,Markus Perola,James A. Perry,John R. B. Perry,Thomas N. Person,Ailith Pirie,Ozren Polasek,Danielle Posthuma,Olli T. Raitakari,Asif Rasheed,Rainer Rauramaa,Dermot F. Reilly,Alexander P. Reiner,Frida Renström,Paul M. Ridker,John D. Rioux,Neil Robertson,Antonietta Robino,Olov Rolandsson,Igor Rudan,Katherine S. Ruth,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Kevin Sandow,Yadav Sapkota,Naveed Sattar,Marjanka K. Schmidt,Pamela J. Schreiner,Matthias B. Schulze,Robert A. Scott,Marcelo P. Segura-Lepe,Svati H. Shah,Xueling Sim,Suthesh Sivapalaratnam,Kerrin S. Small,Albert V. Smith,Jennifer A. Smith,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,John M. Starr,Valgerdur Steinthorsdottir,Heather M. Stringham,Michael Stumvoll,Praveen Surendran,Leen M 't Hart,Katherine E. Tansey,Jean-Claude Tardif,Kent D. Taylor,Alexander Teumer,Deborah J. Thompson,Unnur Thorsteinsdottir,Betina H. Thuesen,Anke Toenjes,Gerard Tromp,Stella Trompet,Emmanouil Tsafantakis,Jaakko Tuomilehto,Anne Tybjærg-Hansen,Jonathan Tyrer,Rudolf Uher,André G. Uitterlinden,Sheila Ulivi,Sander W. van der Laan,Andries R. van der Leij,Cornelia M. van Duijn,Natasja M. van Schoor,Jessica van Setten,Anette Varbo,Tibor V. Varga,Rohit Varma,Digna R. Velez Edwards,Sita H. Vermeulen,Henrik Vestergaard,Veronique Vitart,Thomas F. Vogt,Diego Vozzi,Mark Walker,Feijie Wang,Carol A. Wang,Shuai Wang,Yiqin Wang,Nicholas J. Wareham,Helen R. Warren,Jennifer Wessel,Sara M. Willems,James G. Wilson,Daniel R. Witte,Michael O. Woods,Ying Wu,Hanieh Yaghootkar,Jie Yao,Pang Yao,Laura M. Yerges-Armstrong,Robin Young,Eleftheria Zeggini,Xiaowei Zhan,Weihua Zhang,Jing Hua Zhao,Wei Zhao,He Zheng,Wei Zhou,Jerome I. Rotter,Michael Boehnke,Sekar Kathiresan,Mark I. McCarthy,Cristen J. Willer,Kari Stefansson,Ingrid B. Borecki,Dajiang J. Liu,Kari E. North,Nancy L. Heard-Costa,Tune H. Pers,Cecilia M. Lindgren,Claus Oxvig,Zoltán Kutalik,Fernando Rivadeneira,Ruth J. F. Loos,Timothy M. Frayling,Joel N. Hirschhorn,Panos Deloukas,Guillaume Lettre +370 more
TL;DR: The results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.