M
McCarthy, Mark, I
Publications - 4
Citations - 409
McCarthy, Mark, I is an academic researcher. The author has contributed to research in topics: Genome-wide association study & Imputation (genetics). The author has an hindex of 3, co-authored 4 publications receiving 49 citations.
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
Anubha Mahajan,Daniel Taliun,Matthias Thurner,Neil R. Robertson,Jason M. Torres,N. William Rayner,Anthony Payne,Valgerdur Steinthorsdottir,Robert A. Scott,Niels Grarup,James P. Cook,Ellen M. Schmidt,Matthias Wuttke,Chloé Sarnowski,Reedik Magill,Jana Nano,Christian Gieger,Stella Trompet,Cécile Lecoeur,Michael Preuss,Bram P. Prins,Xiuqing Guo,Lawrence F. Bielak,Jennifer E. Below,Donald W. Bowden,John C. Chambers,Young-Jin Kim,Maggie C.Y. Ng,Lauren E. Petty,Xueling Sim,Weihua Zhang,Amanda J. Bennett,Jette Bork-Jensen,Chad M. Brummett,Mickaël Canouil,Kai-Uwe Ec Kardt,Krista Fischer,Sharon L.R. Kardia,Florian Kronenberg,Kristi Läll,Ching-Ti Liu,Adam E. Locke,Jian'an Luan,Loanna Ntalla,Vibe Nylander,Sebastian Schoenherr,Claudia Schurmann,Loic Yengo,Erwin P. Bottinger,Ivan Brandslund,Cramer Christensen,George Dedoussis,Jose C. Florez,Ian Ford,Timothy M. Frayling,Vilmantas Giedraitis,Sophie Hackinger,Andrew T. Hattersley,Christian Herder,M. Arfan Ikram,Martin Ingelsson,Marit E. Jørgensen,Torben Jørgensen,Jennifer Kriebel,Johanna Kuusisto,Symen Ligthart,Cecilia M. Lindgren,Allan Linneberg,Valeriya Lyssenko,Vasiliki Mamakou,Thomas Meitinger,Karen L. Mohlke,Andrew D. Morris,Girish N. Nadkarni,James S. Pankow,Annette Peters,Naveed Sattar,Alena Stančáková,Konstantin Strauch,Kent D. Taylor,Barbara Thorand,Gudmar Thorleifsson,Unnur Thorsteinsdottir,Jaakko Tuomilehto,Daniel R. Witte,Josée Dupuis,Patricia A. Peyser,Eleftheria Zeggini,Ruth J. F. Loos,Philippe Froguel,Erik Ingelsson,Lars Lind,Leif Groop,Markku Laakso,Francis S. Collins,J. Wouter Jukema,Colin N. A. Palmer,Harald Grallert,Andres Metspalu,Abbas Dehghan,Anna Koettgen,Gonçalo R. Abecasis,James B. Meigs,Rotter, Jerome, I,Jonathan Marchini,Oluf Pedersen,Torben Hansen,Claudia Langenberg,Nicholas J. Wareham,Kari Stefansson,Anna L. Gloyn,Andrew P. Morris,Michael Boehnke,McCarthy, Mark, I +113 more
Abstract: We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci, 135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency <5%, 14 with estimated allelic odds ratio >2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).Combining 32 genome-wide association studies with high-density imputation provides a comprehensive view of the genetic contribution to type 2 diabetes in individuals of European ancestry with respect to locus discovery, causal-variant resolution, and mechanistic insight.
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Anne E. Justice,Tugce Karaderi,Heather M. Highland,Kristin L. Young,Mariaelisa Graff,Yingchang Lu,Valérie Turcot,Paul L. Auer,Rebecca S. Fine,Xiuqing Guo,Claudia Schurmann,Adelheid Lempradl,Eirini Marouli,Anubha Mahajan,Thomas W. Winkler,Adam E. Locke,Carolina Medina-Gomez,Tõnu Esko,Sailaja Vedantam,Ayush Giri,Ken Sin Lo,Tamuno Alfred,Poorva Mudgal,Maggie C.Y. Ng,Nancy L. Heard-Costa,Mary F. Feitosa,Alisa K. Manning,Sara M. Willems,Suthesh Sivapalaratnam,Gonçalo R. Abecasis,Dewan S. Alam,Matthew A. Allison,Philippe Amouyel,Zorayr Arzumanyanm,Beverley Balkau,Lisa Bastarache,Sven Bergmann,Lawrence F. Bielak,Matthias Blueher,Michael Boehnke,Heiner Boeing,Eric Boerwinkle,Carsten A. Boeger,Jette Bork-Jensen,Erwin P. Bottinger,Donald W. Bowden,Ivan Brandslund,Linda Broer,Amber A. Burt,Adam S. Butterworth,Markj Caulfield,Giancarlo Cesana,John C. Chambers,Chasman, Daniel, I,Yii-Der Ida Chen,Rajiv Chowdhury,Cramer Christensen,Audreyy Chu,Francis S. Collins,James P. Cook,Amanda J. Cox,David S. Crosslin,John Danesh,Paul I. W. de Bakker,Simon de Denus,Renée de Mutsert,George Dedoussis,Ellen W. Demerath,Joe Dennis,Josh C. Denny,Emanuele Di Angelantonio,Marcus Doerr,Fotios Drenos,Marie-Pierre Dubé,Alison M. Dunning,Douglas F. Easton,Paul Elliott,Evangelos Evangelou,Aliki-Eleni Farmaki,Shuang Feng,Ele Ferrannini,Jean Ferrières,Jose C. Florez,Myriam Fornage,Caroline S. Fox,Paul W. Franks,Nele Friedrich,Wei Gan,Ilaria Gandin,Paolo Gasparini,Vilmantas Giedraitis,Giorgia Girotto,Mathias Gorski,Harald Grallert,Niels Grarup,Megan L. Groves,Stefan Gustafsson,Jeffrey Haessler,Torben Hansen,Andrew T. Hattersley,Caroline Hayward,Iris M. Heid,Oddgeir L. Holmen,G. Kees Hovingh,Joanna M. M. Howson,Yao Hu,Yi-Jen Hung,Kristian Hveem,M. Arfan Ikram,Erik Ingelsson,Anne U. Jackson,Gail P. Jarvik,Yucheng Jia,Torben Jørgensen,Pekka Jousilahti,Johanne Marie Justesen,Bratati Kahali,Maria Karaleftheri,Sharon L.R. Kardia,Fredrik Karpe,Frank Kee,Hidetoshi Kitajima,Pirjo Komulainen,Jaspal S. Kooner,Peter Kovacs,Bernhard K. Kraemer,Kari Kuulasmaa,Johanna Kuusisto,Markku Laakso,Timo A. Lakka,David Lamparter,Leslie A. La Nge,Claudia Langenberg,Eric B. Larson,Nanette R. Lee,Wen-Jane Lee,Terho Lehtimaeki,Cora E. Lewis,Huaixing Li,Jin Li,RuifangLi-Gao,Li-An Lin,Xu Lin,Lars Lind,Jaana Lindstroem,Allan Linneberg,Ching-Ti Liu,Dajiang J. Liu,Jian'an Luan,Leo-Pekka Lyytikäinen,Stuart MacGregor,Reedik Mägi,Satu Männistö,Gaëlle Marenne,Jonathan Marten,Nicholas G. D. Mascal,McCarthy, Mark, I,Karina Meidtner,Evelin Mihailov,Leena Moilanen,Marie Moitry,Dennis O. Mook-Kanamori,Anna Morgan,Andrew P. Morris,Martina Mueller-Nurasyid,Patricia B. Munroe,Narisu Narisu,Christopher P. Nelson,Matt J. Neville,Ioanna Ntalla,Katharine R. Owen,Oluf Pedersen,Gina M. Peloso,Craig E. Pennell,Markus Perola,Allan James,John R. B. Perry,Tune H. Pers,Ailith Ewing,Ozren Polasek,Asif Rasheed,Chelsea K. Raulerson,Rainer Rauramaa,Dermot F. Reilly,Alex P. Reiner,Paul M. Ridker,Manuel A. Rivas,Neil R. Robertson,Antonietta Robino,Igor Rudan,Katherine S. Ruth,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Pamela J. Schreiner,Matthias B. Schulze,Robert A. Scott,Marcelo P. Segura-Lepe,Xueling Sim,Andrew J. Slater,Kerrin S. Small,Blair H. Smith,Jennifer A. Smith,Lorraine Southam,Tim D. Spector,Elizabeth K. Speliotes,Kari Stefansson,Valgerdur Steinthorsdottir,Kathleen Stirrups,Konstantin Strauch,Heather M. Stringham,Michael Stumvoll,Liang Sun,Praveen Surendran,Karin M. A. Swart,Jean-Claude Tardif,Kent D. Taylor,Alexander Teumer,Deborah J. Thompson,Gudmar Thorleifsson,Unnur Thorsteinsdottir,Betina H. Thuesen,Anke Toenjes,Mina Torres,Emmanouil Tsafantakis,Jaakko Tuomilehto,André G. Uitterlinden,Matti Uusitupa,Cornelia M. van Duijn,Mauno Vanhala,Rohit Varma,Sita H. Vermeulen,Henrik Vestergaard,Veronique Vitart,Thomas F. Vogt,Dragana Vuckovic,Lynne E. Wagenknecht,Mark Walker,Lars Wallentin,Feijie Wang,Carol A. Wang,Shuai Wang,N. Icholas J. Wareham,Helen R. Warren,Dawn M. Waterworth,Jennifer Wessel,Harvey D. White,Cristen J. Willer,James G. Wilson,Andrew R. Wood,Ying Wu,Hanieh Yaghootkar,Jie Yao,Laura M. Verges-Armstrong,Robin Young,Eleftheria Zeggini,Xiaowei Zhan,Weihua Zhang,Jing Hua Zhao,Wei Zhao,He Zheng,Wei Zhou,M. Carola Zillikens,Fernando Rivadeneira,Ingrid B. Borecki,J. Andrew Pospisilik,Panos Deloukas,Timothy M. Frayling,Guillaume Lettre,Karen L. Mohlke,Rotter, Jerome, I,Zoltán Kutalik,Joel N. Hirschhorn,L. Adrienne Cupples,Ruth J. F. Loos,Kari E. North,Cecilia M. Lindgren,Jeffrey R. O'Connell,Olli T. Raitakari,Leslie A. Lange,Andr G. Uitterlinden,Megan L. Grove,Nicholas G. D. Masca,Nicholas J. Wareham,Tnu Esko,Paul I.W. de Bakker,Mark J. Caulfield,Martina Mller-Nurasyid +287 more
TL;DR: A transancestral exome-wide association study for body-fat distribution identifies protein-coding variants that are significantly associated with waist-to-hip ratio adjusted for body mass index.
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Praveen Surendran,Elena V. Feofanova,Najim Lahrouchi,Ioanna Ntalla,Savita Karthikeyan,James P. Cook,Lingyan Chen,Borbala Mifsud,Chen Yao,Aldi T. Kraja,James H. Cartwright,Jacklyn N. Hellwege,Ayush Giri,Vinicius Tragante,Gudmar Thorleifsson,Dajiang J. Liu,Bram P. Prins,Isobel D. Stewart,Claudia P. Cabrera,James Eales,Artur Akbarov,Paul L. Auer,Lawrence F. Bielak,Joshua C. Bis,Vickie S. Braithwaite,Jennifer A. Brody,E. Warwick Daw,Helen R. Warren,Fotios Drenos,Sune F. Nielsen,Jessica D. Faul,Eric B. Fauman,Cristiano Fava,Teresa Ferreira,Christopher N. Foley,Nora Franceschini,He Gao,Olga Giannakopoulou,Franco Giulianini,Daniel F. Gudbjartsson,Xiuqing Guo,Sarah E. Harris,Aki S. Havulinna,Anna Helgadottir,Jennifer E. Huffman,Shih-Jen Hwang,Stavroula Kanoni,Jukka Kontto,Martin G. Larson,Ruifang Li-Gao,Jaana Lindström,Luca A. Lotta,Yingchang Lu,Jian'an Luan,Anubha Mahajan,Giovanni Malerba,Nicholas G. D. Masca,Hao Mei,Cristina Menni,Dennis O. Mook-Kanamori,David Mosen-Ansorena,Martina Müller-Nurasyid,Guillaume Paré,Dirk S. Paul,Markus Perola,Alaitz Poveda,Rainer Rauramaa,Melissa A. Richard,Tom G. Richardson,Nuno Sepúlveda,Xueling Sim,Albert V. Smith,Jennifer A. Smith,James R Staley,Alena Stanakova,Patrick Sulem,Sébastien Thériault,Unnur Thorsteinsdottir,Stella Trompet,Tibor V. Varga,Digna R. Velez Edwards,Giovanni Veronesi,Stefan Weiss,Sara M. Willems,Jie Yao,Robin Young,Bing Yu,Weihua Zhang,Jing Hua Zhao,Wei Zhao,Evangelos Evangelou,Stefanie Aeschbacher,Eralda Asllanaj,Stefan Blankenberg,Lori L. Bonnycastle,Jette Bork-Jensen,Ivan Brandslund,Peter S. Braund,Stephen Burgess,Kelly Cho,Cramer Christensen,John M. C. Connell,Renée de Mutsert,Anna F. Dominiczak,Marcus Dörr,Gudny Eiriksdottir,Aliki-Eleni Farmaki,J. Michael Gaziano,Niels Grarup,Megan L. Grove,Göran Hallmans,Torben Hansen,Christian Theil Have,Gerardo Heiss,Marit E. Jørgensen,Pekka Jousilahti,Eero Kajantie,Mihir A Kamat,Annemari Käräjämäki,Fredrik Karpe,Heikki A. Koistinen,Csaba P. Kovesdy,Kari Kuulasmaa,Tiina Laatikainen,Lars Lannfelt,I-Te Lee,Wen-Jane Lee,Allan Linneberg,Lisa W. Martin,Marie Moitry,Girish N. Nadkarni,Matt J. Neville,Colin N. A. Palmer,George J. Papanicolaou,Oluf Pedersen,James E. Peters,Neil Poulter,Asif Rasheed,Katrine L. Rasmussen,N. William Rayner,Reedik Mägi,Frida Renström,Rainer Rettig,Jacques E. Rossouw,Pamela J. Schreiner,Peter S. Sever,Emil L. Sigurdsson,Tea Skaaby,Yan V. Sun,Johan Sundström,Gudmundur Thorgeirsson,Tõnu Esko,Elisabetta Trabetti,Philip S. Tsao,Tiinamaija Tuomi,Stephen T. Turner,Ioanna Tzoulaki,Ilonca Vaartjes,Anne-Claire Vergnaud,Cristen J. Willer,Peter W.F. Wilson,Daniel R. Witte,Ekaterina Yonova-Doing,He Zhang,Naheed Aliya,Peter Almgren,Philippe Amouyel,Folkert W. Asselbergs,Michael R. Barnes,Blakemore, Alexandra, I,Michael Boehnke,Michiel L. Bots,Erwin P. Bottinger,Julie E. Buring,John C. Chambers,Yii-Der Ida Chen,Rajiv Chowdhury,David Conen,Adolfo Correa,George Davey Smith,Rudolf A. de Boer,Ian J. Deary,George Dedoussis,Panos Deloukas,Emanuele Di Angelantonio,Paul Elliott,Stephan B. Felix,Jean Ferrières,Ian Ford,Myriam Fornage,Paul W. Franks,Stephen Franks,Philippe M. Frossard,Giovanni Gambaro,Tom R. Gaunt,Leif Groop,Vilmundur Gudnason,Tamara B. Harris,Caroline Hayward,Branwen J. Hennig,Karl-Heinz Herzig,Erik Ingelsson,Jaakko Tuomilehto,Marjo-Riitta Järvelin,J. Wouter Jukema,Sharon L.R. Kardia,Frank Kee,Jaspal S. Kooner,Charles Kooperberg,Lenore J. Launer,Lars Lind,Ruth J. F. Loos,Abdulla Al Shafi Majumder,Markku Laakso,McCarthy, Mark, I,Olle Melander,Karen L. Mohlke,Alison D. Murray,Børge G. Nordestgaard,Marju Orho-Melander,Christopher J. Packard,Sandosh Padmanabhan,Walter Palmas,Ozren Polasek,David J. Porteous,Andrew M. Prentice,Michael A. Province,Caroline L Relton,Kenneth Rice,Paul M. Ridker,Olov Rolandsson,Frits R. Rosendaal,Rotter, Jerome, I,Igor Rudan,Veikko Salomaa,Nilesh J. Samani,Naveed Sattar,Wayne H-H Sheu,Blair H. Smith,Nicole Soranzo,Tim D. Spector,John M. Starr,Sylvain Sebert,Kent D. Taylor,Timo A. Lakka,Nicholas J. Timpson,Martin D. Tobin,Pim van der Harst,Peter van der Meer,Vasan S. Ramachandran,Niek Verweij,Jarmo Virtamo,Uwe Völker,David R. Weir,Eleftheria Zeggini,Fadi J. Charchar,Nicholas J. Wareham,Claudia Langenberg,Maciej Tomaszewski,Adam S. Butterworth,Mark J. Caulfield,John Danesh,Todd L. Edwards,Hilma Holm,Adriana M. Hung,Cecilia M. Lindgren,Chunyu Liu,Alisa K. Manning,Andrew P. Morris,Alanna C. Morrison,Christopher J. O'Donnell,Bruce M. Psaty,Danish Saleheen,Kari Stefansson,Eric Boerwinkle,Chasman, Daniel, I,Daniel Levy,Christopher Newton-Cheh,Patricia B. Munroe,Joanna M. M. Howson +279 more
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity
Jonathan P. Bradfield,Suzanne Vogelezang,Janine F. Felix,Alessandra Chesi,Øyvind Helgeland,Momoko Horikoshi,Ville Karhunen,Estelle Lowry,Diana L. Cousminer,Tarunveer S. Ahluwalia,Elisabeth Thiering,Eileen Tai-Hui Boh,Mohammad Hadi Zafarmand,Natalia Vilor-Tejedor,Carol A. Wang,Raimo Joro,Zhanghua Chen,William J. Gauderman,Niina Pitkänen,Esteban J. Parra,Lindsay Fernández-Rhodes,Akram Alyass,Claire Monnereau,John A. Curtin,Christian Theil Have,Shana E. McCormack,Mette Hollensted,Christine Frithioff-Bøjsøe,Adan Valladares-Salgado,Jesús Peralta-Romero,Yik Ying Teo,Marie Standl,Jaakko T. Leinonen,Jens-Christian Holm,Triinu Peters,Jesús Vioque,Martine Vrijheid,Angela Simpson,Adnan Custovic,Marc Vaudel,Mickaël Canouil,Virpi Lindi,Mustafa Atalay,Mika Kähönen,Olli T. Raitakari,Barbera D. C. van Schaik,Berkowitz, Robert, I,Shelley A. Cole,V. Saroja Voruganti,Yujie Wang,Heather M. Highland,Anthony G. Comuzzie,Nancy F. Butte,Anne E. Justice,Sheila Gahagan,Estela Blanco,Terho Lehtimäki,Timo A. Lakka,Johannes Hebebrand,Amélie Bonnefond,Niels Grarup,Philippe Froguel,Leo-Pekka Lyytikäinen,Miguel Cruz,Sayuko Kobes,Robert L. Hanson,Babette S. Zemel,Anke Hinney,Koon K. Teo,David Meyre,Kari E. North,Frank D. Gilliland,Hans Bisgaard,Mariona Bustamante,Klaus Bønnelykke,Craig E. Pennell,Fernando Rivadeneira,André G. Uitterlinden,Leslie J. Baier,Tanja G. M. Vrijkotte,Joachim Heinrich,Thorkild I. A. Sørensen,Seang-Mei Saw,Oluf Pedersen,Torben Hansen,Johan G. Eriksson,Elisabeth Widen,McCarthy, Mark, I,Pål R. Njølstad,Christine Power,Elina Hyppönen,Sylvain Sebert,Christopher D. Brown,Marjo-Riitta Järvelin,Nicholas J. Timpson,Stefan Johansson,Hakon Hakonarson,Vincent W. V. Jaddoe,Struan F.A. Grant +98 more