J
Jaspal S. Kooner
Researcher at National Institutes of Health
Publications - 298
Citations - 79128
Jaspal S. Kooner is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 109, co-authored 284 publications receiving 65969 citations. Previous affiliations of Jaspal S. Kooner include University of Eastern Finland & London North West Healthcare NHS Trust.
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Journal ArticleDOI
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations
Marie Loh,Weihua Zhang,Hong Kiat Ng,Katharina T Schmid,Amel Lamri,Lin Tong,Meraj Ahmad,Jung-Jin Lee,Maggie C.Y. Ng,Lauren E. Petty,Cassandra N. Spracklen,Fumihiko Takeuchi,Md. Tariqul Islam,Farzana Jasmine,Anuradhani Kasturiratne,Muhammad G. Kibriya,Karen L. Mohlke,Guillaume Paré,Gauri Prasad,Mohammad Hasan Shahriar,Miao Li Chee,H. J. Silva,James C. Engert,Hertzel C. Gerstein,K. Radha Mani,Charumathi Sabanayagam,Marijana Vujkovic,Ananda R. Wickremasinghe,Tien Yin Wong,Chittaranjan S. Yajnik,Salim Yusuf,Habibul Ahsan,Dwaipayan Bharadwaj,Sonia S. Anand,Jennifer E. Below,Michael Boehnke,Donald W. Bowden,Giriraj R. Chandak,Ching-Yu Cheng,Norihiro Kato,Anubha Mahajan,Xueling Sim,Mark I. McCarthy,Andrew P. Morris,Jaspal S. Kooner,Danish Saleheen,John C. Chambers +46 more
TL;DR: In this paper , the authors carried out a genome-wide association meta-analysis with South Asian T2D cases (n = 16,677) and controls (n= 33,856), followed by combined analyses with Europeans (neff = 231,420).
Journal ArticleDOI
Does subclinical atherosclerosis burden identify the increased risk of cardiovascular disease mortality among United Kingdom Indian Asians? A population study.
Navtej S. Chahal,Tiong K Lim,Piyush Jain,John C. Chambers,Jaspal S. Kooner,Roxy Senior,Roxy Senior +6 more
TL;DR: The burden of carotid atherosclerosis does not identify the markedly increased risk of CVD among United Kingdom Indian Asians, and other markers and mechanisms of disease require investigation in this high-risk group.
Posted ContentDOI
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries
Jason Flannick,Josep M. Mercader,Christian Fuchsberger,Miriam S. Udler,Anubha Mahajan,Jennifer Wessel,Tanya M. Teslovich,Lizz Caulkins,Ryan Koesterer,Thomas W. Blackwell,Eric Boerwinkle,Eric Boerwinkle,Jennifer A. Brody,Lin Chen,Song Chen,Cecilia Contreras-Cubas,Emilio J. Cordova,Adolfo Correa,Maria L. Cortes,Ralph A. DeFronzo,Lawrence M. Dolan,Kimberly L. Drews,Amanda F. Elliott,Amanda F. Elliott,James S. Floyd,S. Gabriel,Garay-Sevilla Me,Humberto García-Ortiz,Myron D. Gross,Sohee Han,Hanks S,Nancy L. Heard-Costa,Anne U. Jackson,Marit E. Jørgensen,Marit E. Jørgensen,Marit E. Jørgensen,Hyun Min Kang,Kelsey M,Bong-Jo Kim,Heikki A. Koistinen,Heikki A. Koistinen,Heikki A. Koistinen,Johanna Kuusisto,Joseph B. Leader,Allan Linneberg,Allan Linneberg,Ching-Ti Liu,Jianjun Liu,Jianjun Liu,Lyssenko,Lyssenko,Alisa K. Manning,Anthony Marcketta,Malacara-Hernandez Jm,Angélica Martínez-Hernández,Matsuo K,Elizabeth J. Mayer-Davis,Elvia Mendoza-Caamal,Karen L. Mohlke,Alanna C. Morrison,Anne Ndungu,Maggie C.Y. Ng,Colm O'Dushlaine,Anthony Payne,Catherine Pihoker,Wendy S. Post,Michael Preuss,Bruce M. Psaty,Bruce M. Psaty,Ramachandran S. Vasan,Rayner Nw,Alexander P. Reiner,Cristina Revilla-Monsalve,Neil R. Robertson,Nicola Santoro,Claudia Schurmann,Wing-Yee So,Heather M. Stringham,T. M. Strom,Claudia Ht Tam,Farook Thameem,Brian Tomlinson,Jason M. Torres,Russel Tracy,van Dam Rm,Marijana Vujkovic,Shuai Wang,Ryan P. Welch,Daniel R. Witte,Tien Yin Wong,Gil Atzmon,Gil Atzmon,Nir Barzilai,John Blangero,Lori L. Bonnycastle,Donald W. Bowden,John C. Chambers,John C. Chambers,John C. Chambers,Edmund Chan,Ching-Yu Cheng,Shin Yc,Francis S. Collins,de Vries Ps,Ravindranath Duggirala,Benjamin Glaser,Clicerio Gonzalez,Ma Elena Gonzalez,Leif Groop,Leif Groop,Jaspal S. Kooner,Soo Heon Kwak,Markku Laakso,Donna M. Lehman,Peter M. Nilsson,Tim D. Spector,Tai Es,Tiinamaija Tuomi,J. Tuomilehto,James G. Wilson,Carlos A. Aguilar-Salinas,Erwin P. Bottinger,Brian Burke,David J. Carey,Juliana C.N. Chan,Josée Dupuis,Philippe M. Frossard,Heckbert,Mi Yeong Hwang,Young-Jin Kim,Kirchner Hl,Lee J,Loos R,Ronald C.W. Ma,Morris Ad,C.J. O'Donnell,Colin N. A. Palmer,James S. Pankow,Ki-Sun Park,Ki-Sun Park,Ki-Sun Park,Asif Rasheed,Danish Saleheen,Xueling Sim,Kerrin S. Small,Yik Ying Teo,Christopher A. Haiman,Craig L. Hanis,Brian E. Henderson,Lorena Orozco,Teresa Tusié-Luna,Frederick E. Dewey,Aris Baras,Christian Gieger,Thomas Meitinger,Konstantin Strauch,Leslie A. Lange,Niels Grarup,Torben Hansen,Torben Hansen,Oluf Pedersen,Zeitler P,Dana Dabelea,Gonçalo R. Abecasis,Graeme I. Bell,Nancy J. Cox,Mark Seielstad,Mark Seielstad,Robert Sladek,James B. Meigs,James B. Meigs,S. S. Rich,Jerome I. Rotter,David Altshuler,Noël P. Burtt,Laura J. Scott,Andrew P. Morris,Jose C. Florez,Mark I. McCarthy,Boehnke M +179 more
TL;DR: An exome sequence analysis of type 2 diabetes cases and controls presents a Bayesian framework to recalibrate association p-values as posterior probabilities of association, estimating that reaching p<0.05 in this study increases the odds of causal T2D association for a nonsynonymous variant by a factor of 1.3.
Posted ContentDOI
Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals
Nicola Whiffin,Nicola Whiffin,Nicola Whiffin,Konrad J. Karczewski,Konrad J. Karczewski,Xiaolei Zhang,Xiaolei Zhang,Sonia Chothani,Miriam J. Smith,D. G. R. Evans,Angharad M. Roberts,Angharad M. Roberts,Nicholas M Quaife,Nicholas M Quaife,Sebastian Schafer,Owen J. L. Rackham,Jessica Alföldi,Jessica Alföldi,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Laurent C. Francioli,Laurent C. Francioli,Irina M. Armean,Irina M. Armean,Irina M. Armean,Eric Banks,Bergelson L,Cibulskis K,Ryan L. Collins,K M Connolly,Covarrubias M,Brian J. Cummings,Brian J. Cummings,Mark J. Daly,Mark J. Daly,Stacey Donnelly,Yossi Farjoun,Ferriera S,Francioli L,Stacey Gabriel,Gauthier Ld,Gentry J,Namrata Gupta,Jeandet T,D Kaplan,Kristen M. Laricchia,Kristen M. Laricchia,C Llanwarne,Eric Vallabh Minikel,Munshi R,Neale Bm,Neale Bm,Novod S,N Petrillo,Timothy Poterba,Timothy Poterba,D Roazen,Ruano-Rubio,Andrea Saltzman,Kaitlin E. Samocha,Molly Schleicher,Cotton Seed,Matthew Solomonson,Matthew Solomonson,J Soto,Grace Tiao,Grace Tiao,K Tibbetts,C Tolonen,Christopher Vittal,G Wade,Arcturus Wang,Arcturus Wang,Qian Wang,Qian Wang,James S. Ware,James S. Ware,Nicholas A. Watts,Nicholas A. Watts,Ben Weisburd,Salinas Caa,Tariq Ahmad,C M Albert,Ardissino D,Atzmon G,Barnard J,Beaugerie L,E J Benjamin,Michael Boehnke,Lori L. Bonnycastle,E P Bottinger,D W Bowden,Matthew J. Bown,John C. Chambers,J C Chan,Daniel I. Chasman,Cho J,M K Chung,Bruce M. Cohen,A Correa,D Dabelea,D Darbar,Duggirala R,Dupuis J,P T Ellinor,Elosua R,Erdmann J,Tõnu Esko,Martti Färkkilä,Jose C. Florez,Andre Franke,G Getz,B Glaser,S J Glatt,D Goldstein,C Gonzalez,Leif Groop,Leif Groop,C Haiman,C Hanis,Harms M,Hiltunen M,M M Holi,C M Hultman,Kallela M,J Kaprio,Sekar Kathiresan,B J Kim,Y J Kim,G Kirov,Jaspal S. Kooner,Jaspal S. Kooner,Koskinen S,Krumholz Hm,Kugathasan S,Kwak Sh,Markku Laakso,Terho Lehtimäki,Loos R,Lubitz Sa,Ma Rc,Daniel G. MacArthur,Marrugat J,Mattila Km,Steven A. McCarroll,Mark I. McCarthy,McGovern D,Ruth McPherson,Meigs Jb,Olle Melander,Andres Metspalu,Peter M. Nilsson,O’Donovan Mc,Dost Öngür,Orozco L,Owen Mj,Colin N. A. Palmer,Aarno Palotie,Park Ks,Carlos N. Pato,Pulver Ae,Rahman N,Remes Am,Rioux Jd,Samuli Ripatti,Samuli Ripatti,Roden Dm,Danish Saleheen,Salomaa,Nilesh J. Samani,Scharf J,Heribert Schunkert,Shoemaker Mb,Sklar P,Soininen H,Soko H,Tim D. Spector,P.F. Sullivan,Jaana Suvisaari,Tai Es,Teo Yy,Tiinamaija T,Tsuang M,Turner D,Tusie-Luna T,Vartiainen E,Hugh Watkins,Weersma Rk,Maija Wessman,James G. Wilson,Xavier Rj,Stuart A. Cook,Stuart A. Cook,Barton Pjr +193 more
TL;DR: In this article, the authors describe a systematic genome-wide study of variants that create and disrupt human uORFs, and explore their role in human disease using 15,708 whole genome sequences collected by the Genome Aggregation Database (gnomAD) project.
Posted ContentDOI
Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation
N Ng,Sara M. Willems,Juan P. Fernandez,Rebecca S. Fine,Eleanor Wheeler,Jennifer Wessel,Hidetoshi Kitajima,Gaëlle Marenne,Jana K. Rundle,Xueling Sim,H Yeghootkar,Marja Vääräsmäki,Ilonca Vaartjes,MK Evans,Magdalena Zoledziewska,Sai Chen,Torben Hansen,Gonçalo R. Abecasis,B. Balkau,Robert A. Scott,Andreas Fritsche,Anne E. Justice,Hans Bisgaard,Andrew T. Hattersley,Paul Elliott,HG de Haan,Caroline Hayward,Joel N. Hirschhorn,LL Bonnycastle,Anette P. Gjesing,MA Ikram,Erik Ingelsson,Ken Sin Lo,R. de Mutsert,Fredrik Karpe,K-T Kaw,Wieland Kiess,Jaspal S. Kooner,Antje Körner,Timo A. Lakka,Michiel L. Bots,Niels Grarup,K-H Herzig,Daniel I. Chasman,Alexandra I. F. Blakemore,Claudia Langenberg,Claudia Langenberg,Claudia Langenberg,Lars Lind,Cecilia M. Lindgren,Allan Linneberg,Leonard Lipovich,C-T Liu,Jun Liu,Yongmei Liu,Eirini Marouli,Ivan Brandslund,A-E Farmaki,Jerome I. Rotter,Rjf Loos,Inês Barroso,Patrick E. MacDonald,Ruifang Li-Gao,Karen L. Mohlke,Andrew D. Morris,Patricia B. Munroe,Carolina Medina-Gomez,Alison D. Murray,Sandosh Padmanabhan,Ji Chen,Dan E. Arking,Cna Palmer,Gerard Pasterkamp,Jessica D. Faul,Erica L. Kleinbrink,Oluf Pedersen,Patricia A. Peyser,Marit E. Jørgensen,Ozren Polasek,Tibor V. Varga,David J. Porteous,M. A. Province,Juha Auvinen,M-F Hivert,Bruce M. Psaty,Rainer Rauramaa,Paul M. Ridker,Olov Rolandsson,Saima Afaq,Tarunveer S. Ahluwalia,Paul W. Franks,P Rorsman,Frits R. Rosendaal,Igor Rudan,L.F. Bielak,Salomaa,Cramer Christensen,Jennifer L. Asimit,Matthias B. Schulze,WA Alhejily,Robert Sladek,Blair H. Smith,Tim D. Spector,Ping An,John M. Starr,Steve Franks,Nathan A. Bihlmeyer,Michael Stumvoll,C M van Duijn,John Danesh,Ian J. Deary,Marjorie M. Walker,Jette Bork-Jensen,C-Y Cheng,Mark O. Goodarzi,Jennifer A. Brody,Campbell A,Matthias Blüher,George Dedoussis,Ay Chu,Gary Davies,Y Chen,Ayse Demirkan,James S. Floyd,Franco Giulianini,Xiuqing Guo,Stefan Gustafsson,A Clark,B Hastoy,H. Boeing,Nicola L. Beer,AP Morris,Nicholas J. Wareham,Anne U. Jackson,Johanna Jakobsdottir,M-R Jarvelin,Richard A. Jensen,Stavroula Kanoni,Sirkka Keinänen-Kiukaanniemi,Jian Bai Li,Man Li,Eric Boerwinkle,Frank H. Collins,Najaf Amin,Kurt Lohman,Abbas Dehghan,Yingchang Lu,Gudnason,Ja Luan,Alisa K. Manning,Jonathan Marten,C Marzi,Karina Meidtner,Klaus Bønnelykke,P. Jousilahti,Dennis O. Mook-Kanamori,Taulant Muka,Josef Coresh,J. H. Jansson,Giorgio Pistis,Bram P. Prins,Kenneth Rice,Göran Hallmans,Neil R. Robertson,Serena Sanna,Anne Raimondo,Ele Ferrannini,Yuan Shi,Albert V. Smith,Jennifer A. Smith,L. Southam,Min A. Jhun,Francesco Cucca,Heather M. Stringham,Salman M. Tajuddin,Tragante,Eero Kajantie,S.W. Van Der Laan,Erwin P. Bottinger,T.B. Harris,Helen R. Warren,Jie Yao,Andrianos M. Yiorkas,Weihua Zhang,T Beck Jørgensen,Wei Zhao,GJ de Borst,Maria Karaleftheri,Emma Ahlqvist,Misa Graff,Mark J. Caulfield,Heather M. Highland,Slr Kardia,Boehnke M,Y-Di Chen,Leena Kinnunen,HA Koistinena,Weir,Anna L. Gloyn,Pirjo Komulainen,Peter Kovacs,Johanna Kuusisto,Markku Laakso,Leslie A. Lange,A. I. Tarasov,LJ Launer,Jose C. Florez,J-J Lee,Shuang Feng,Tapani Ebeling,Folkert W. Asselbergs,Folkert W. Asselbergs,Aaron Leong,Jaana Lindström,Jem Fox,Satu Männistö,Nisa M. Maruthur,Leena Moilanen,Antonella Mulas,Mike A. Nalls,James G. Wilson,Mark I. McCarthy,Soren K. Thomsen,John C. Chambers,Matt J. Neville,Panagiotis Deloukas,James S. Pankow,Alison Pattie,Erb Petersen,Hannu Puolijoki,Adil Rasheed,Tien Yin Wong,Paul Redmond,Frida Renström,James B. Meigs,Oscar H. Franco,Michael Roden,Danish Saleheen,M van de Bunt,HM den Ruijter,Juha Saltevo,Kai Savonen,Emil V. R. Appel,Sylvain Sebert,Tea Skaaby,Kerrin S. Small,Alena Stančáková,H Grallert,Rona J. Strawbridge,Jakob Stokholm,Konstantin Strauch,E. S. Tai,Kent D. Taylor,Eleftheria Zeggini,Josée Dupuis,Shuai Wang,Betina H. Thuesen,Anke Tönjes,Emmanouil Tsafantakis,Leif Groop,Tiinamaija Tuomi,Anubha Mahajan,J. Tuomilehto,AB Zonderman,Matti Uusitupa +264 more
TL;DR: Functional studies demonstrated that a novel FG/FI association at the liver-enriched G6PC transcript was driven by multiple rare loss-of-function variants, including two alleles within the same codon with divergent effects on glucose levels, highlighting the value of integrating genomic and functional data to maximize biological inference.