Genome-wide association study identifies three loci associated with melanoma risk.
D. Timothy Bishop,Florence Demenais,Mark M. Iles,Mark Harland,John C. Taylor,Eve Corda,Eve Corda,Juliette Randerson-Moor,Joanne F. Aitken,Marie-Françoise Avril,Esther Azizi,Bert Bakker,Giovanna Bianchi-Scarrà,Brigitte Bressac-de Paillerets,Donato Calista,Lisa A. Cannon-Albright,Thomas Chin-A-Woeng,Tadeusz Dębniak,Gilli Galore-Haskel,Paola Ghiorzo,Ivo Gut,Johan Hansson,Marko Hočevar,Veronica Höiom,John L. Hopper,Christian Ingvar,Peter A. Kanetsky,Richard F. Kefford,Maria Teresa Landi,Julie Lang,Jan Lubinski,Rona M. MacKie,Josep Malvehy,Graham J. Mann,Nicholas G. Martin,Grant W. Montgomery,Frans A. van Nieuwpoort,Srdjan Novaković,Håkan Olsson,Susana Puig,Marjan M. Weiss,Wilbert van Workum,Diana Zelenika,Kevin M. Brown,Alisa M. Goldstein,Elizabeth M. Gillanders,Anne Boland,Pilar Galan,David E. Elder,Nelleke A. Gruis,Nicholas K. Hayward,G. Mark Lathrop,G. Mark Lathrop,Jennifer H. Barrett,Julia A. Newton Bishop +54 more
TLDR
Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.Abstract:
We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.read more
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Genome-wide association study identifies five new breast cancer susceptibility loci
Clare Turnbull,Shahana Ahmed,Jonathan J. Morrison,David Pernet,Anthony Renwick,Mel Maranian,Sheila Seal,Maya Ghoussaini,Sarah Hines,Catherine S. Healey,Deborah Hughes,Margaret Warren-Perry,William J. Tapper,Diana Eccles,D. Gareth Evans,Maartje J. Hooning,Mieke Schutte,Ans M.W. van den Ouweland,Richard S. Houlston,Gillian Ross,Cordelia Langford,Paul D.P. Pharoah,Michael R. Stratton,Michael R. Stratton,Alison M. Dunning,Nazneen Rahman,Douglas F. Easton +26 more
TL;DR: Previously identified breast cancer susceptibility loci were found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.
BookDOI
Long Noncoding RNAs
TL;DR: The chapter shows that the current understanding of what is a gene should be revised, in order to clearly define the complex relationship between product-coding regions, regulatory sequences, and the organism’s phenotype.
Journal ArticleDOI
Chimeric antigen receptor-modified T cells derived from defined CD8 + and CD4 + subsets confer superior antitumor reactivity in vivo
Daniel Sommermeyer,Michael Hudecek,Michael Hudecek,Paula L. Kosasih,Tea Gogishvili,David G. Maloney,David G. Maloney,Cameron J. Turtle,Cameron J. Turtle,Stanley R. Riddell,Stanley R. Riddell,Stanley R. Riddell +11 more
TL;DR: It is shown that CAR-T-cell products generated from defined T-cell subsets can provide uniform potency compared with products derived from unselected T cells that vary in phenotypic composition.
Journal ArticleDOI
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Satoru Yokoyama,Susan L. Woods,Glen M. Boyle,Lauren G. Aoude,Stuart MacGregor,Victoria Zismann,Michael Gartside,Anne E. Cust,Rizwan Haq,Mark Harland,John C. Taylor,David L. Duffy,Kelly Holohan,Ken Dutton-Regester,Jane M. Palmer,Vanessa F. Bonazzi,Mitchell S. Stark,Judith Symmons,Matthew Law,Christopher W. Schmidt,Cathy Lanagan,Linda O'Connor,Elizabeth A. Holland,Helen Schmid,Judith A. Maskiell,Jodie Jetann,Megan Ferguson,Mark A. Jenkins,Richard F. Kefford,Graham G. Giles,Bruce K. Armstrong,Joanne F. Aitken,John L. Hopper,David C. Whiteman,Paul D.P. Pharoah,Douglas F. Easton,Alison M. Dunning,Julia Newton-Bishop,Grant W. Montgomery,Nicholas G. Martin,Graham J. Mann,D. Timothy Bishop,Hensin Tsao,Jeffrey M. Trent,David E. Fisher,Nicholas K. Hayward,Kevin M. Brown,Kevin M. Brown +47 more
TL;DR: Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets, indicating thatMITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility.
Journal ArticleDOI
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Cristian Pattaro,Alexander Teumer,Mathias Gorski,Audrey Y. Chu,Man Li,Vladan Mijatovic,Maija K. Garnaas,Adrienne Tin,Rossella Sorice,Yong Li,Daniel Taliun,Matthias Olden,Meredith C. Foster,Qiong Yang,Ming-Huei Chen,Tune H. Pers,Tune H. Pers,Andrew D. Johnson,Yi-An Ko,Christian Fuchsberger,Bamidele O. Tayo,Mike A. Nalls,Mary F. Feitosa,Aaron Isaacs,Abbas Dehghan,Pio D'Adamo,Adebowale Adeyemo,Aida Karina Dieffenbach,Alan B. Zonderman,Ilja M. Nolte,Peter J. van der Most,Alan F. Wright,Alan R. Shuldiner,Alan R. Shuldiner,Alanna C. Morrison,Albert Hofman,Albert V. Smith,Albert W. Dreisbach,Andre Franke,André G. Uitterlinden,Andres Metspalu,Anke Tönjes,Antonio Lupo,Antonietta Robino,Åsa Johansson,Ayse Demirkan,Barbara Kollerits,Barry I. Freedman,Belen Ponte,Ben A. Oostra,Bernhard Paulweber,Bernhard K. Krämer,Braxton D. Mitchell,Braxton D. Mitchell,Brendan M. Buckley,Carmen A. Peralta,Caroline Hayward,Catherine Helmer,Catherine Helmer,Charles N. Rotimi,Christian M. Shaffer,Christian Müller,Cinzia Sala,Cornelia M. van Duijn,Aude Saint-Pierre,Daniel Ackermann,Daniel Shriner,Daniela Ruggiero,Daniela Toniolo,Yingchang Lu,Daniele Cusi,Darina Czamara,David Ellinghaus,David S. Siscovick,Douglas M. Ruderfer,Christian Gieger,Harald Grallert,Elena Rochtchina,Elizabeth J. Atkinson,Elizabeth G. Holliday,Eric Boerwinkle,Erika Salvi,Erwin P. Bottinger,Federico Murgia,Fernando Rivadeneira,Florian Ernst,Florian Kronenberg,Frank B. Hu,Gerjan Navis,Gary C. Curhan,G. Ehret,Georg Homuth,Stefan Coassin,Gian Andri Thun,Gian Andri Thun,Giorgio Pistis,Giovanni Gambaro,Giovanni Malerba,Grant W. Montgomery,Gudny Eiriksdottir,Gunnar Jacobs,Guo Li,H.-Erich Wichmann,Harry Campbell,Helena Schmidt,Henri Wallaschofski,Henry Völzke,Hermann Brenner,Heyo K. Kroemer,Holly Kramer,Honghuang Lin,I. Mateo Leach,Ian Ford,Idris Guessous,Idris Guessous,Idris Guessous,Igor Rudan,Inga Prokopenko,Ingrid B. Borecki,Iris M. Heid,Ivana Kolcic,Ivana Persico,J. Wouter Jukema,James F. Wilson,Janine F. Felix,Jasmin Divers,Jean-Charles Lambert,Jeanette M. Stafford,Jean-Michel Gaspoz,Jennifer A. Smith,Jessica D. Faul,Jie Jin Wang,Jingzhong Ding,Joel N. Hirschhorn,Joel N. Hirschhorn,John Attia,John Attia,John Whitfield,John Chalmers,J. Viikari,Josef Coresh,Joshua C. Denny,Juha Karjalainen,Jyotika K. Fernandes,Karlhans Endlich,Katja Butterbach,Keith L. Keene,Kurt Lohman,Laura Portas,Lenore J. Launer,Leo-Pekka Lyytikäinen,Loic Yengo,Loic Yengo,Loic Yengo,Lude Franke,Luigi Ferrucci,Lynda M. Rose,Lyudmyla Kedenko,Madhumathi Rao,Maksim Struchalin,Marcus E. Kleber,Margherita Cavalieri,Margot Haun,Marilyn C. Cornelis,Marina Ciullo,Mario Pirastu,Mariza de Andrade,Mark McEvoy,Mark Woodward,Martin Adam,Martin Adam,Massimiliano Cocca,Matthias Nauck,Medea Imboden,Medea Imboden,Melanie Waldenberger,Menno Pruijm,Marie Metzger,Michael Stumvoll,Michele K. Evans,Michèle M. Sale,Mika Kähönen,Mladen Boban,Murielle Bochud,Myriam Rheinberger,Niek Verweij,Nabila Bouatia-Naji,Nabila Bouatia-Naji,Nicholas G. Martin,Nicholas G. Martin,Nicholas D. Hastie,Nicole Probst-Hensch,Nicole Probst-Hensch,Nicole Soranzo,Olivier Devuyst,Olli T. Raitakari,Omri Gottesman,Oscar H. Franco,Ozren Polasek,Paolo Gasparini,Patricia B. Munroe,Paul M. Ridker,Paul Mitchell,Paul Muntner,Christa Meisinger,Johannes H. Smit,Gonçalo R. Abecasis,Linda S. Adair,Myriam Alexander,David Altshuler,Najaf Amin,Dan E. Arking,Pankaj Arora,Yurii S. Aulchenko,Stephan J. L. Bakker,Stefania Bandinelli,Inês Barroso,Jacques S. Beckmann,John Beilby,Richard N. Bergman,Sven Bergmann,Joshua C. Bis,Michael Boehnke,Lori L. Bonnycastle,Stefan R. Bornstein,Michiel L. Bots,Jennifer L. Bragg-Gresham,Stefan Martin Brand,Eva Brand,Peter S. Braund,Morris J. Brown,Paul Burton,Juan P. Casas,Mark J. Caulfield,Aravinda Chakravarti,John C. Chambers,Giriraj R. Chandak,Yen Pei C. Chang,Fadi J. 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O'Donnell,Toshio Ogihara,Takayoshi Ohkubo,Tomonori Okamura,Rick Twee-Hee Ong,Halit Ongen,N. Charlotte Onland-Moret,Paul F. O'Reilly,Elin Org,Marco Orrù,Walter Palmas,Jutta Palmen,Lyle J. Palmer,Nicholette D. Palmer,Alex Parker,John F. Peden,Leena Peltonen,Markus Perola,Vasyl Pihur,Carl G. P. Platou,Andrew S. Plump,Dorairajan Prabhakaran,Bruce M. Psaty,Leslie J. Raffel,Dabeeru C. Rao,Asif Rasheed,Fulvio Ricceri,Kenneth Rice,Annika Rosengren,Jerome I. Rotter,Megan E. Rudock,Siim Sõber,Tunde Salako,Danish Saleheen,Veikko Salomaa,Nilesh J. Samani,Steven M. Schwartz,Peter Schwarz,Laura J. Scott,James Scott,Angelo Scuteri,Joban Sehmi,Mark Seielstad,Sudha Seshadri,Pankaj Sharma,Sue Shaw-Hawkins,Gang Shi,Nick Shrine,Eric J.G. Sijbrands,Xueling Sim,Andrew B. Singleton,Marketa Sjögren,Nicholas L. Smith,María Soler Artigas,Tim D. Spector,Jan A. Staessen,Alena Stančáková,Nanette I. Steinle,David P. Strachan,Heather M. Stringham,Yan V. Sun,Amy J. Swift,Yasuharu Tabara,E. Shyong Tai,Philippa J. 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Sidney,Neil Risch,Hua Tang,Stefan Blankenberg,Renate B. Schnabel,C. Sinning,Karl J. Lackner,Laurence Tiret,Viviane Nicaud,François Cambien,Christoph Bickel,Hans J. Rupprecht,Claire Perret,Carole Proust,Thomas Münzel,Maja Barbalić,Ida Yii Der Chen,Serkalem Demissie-Banjaw,Serkalem Demissie-Banjaw,Aaron R. Folsom,Thomas Lumley,Kristin D. Marciante,Kent D. Taylor,Kelly A. Volcik,Solveig Gretarsdottir,Jeffrey R. Gulcher,Augustine Kong,Kari Stefansson,Kari Stefansson,Gudmundur Thorgeirsson,Karl Andersen,Marcus Fischer,Anika Grosshennig,Patrick Linsel-Nitschke,Klaus Stark,Stefan Schreiber,Zouhair Aherrahrou,Petra Bruse,Angela Doering,Norman Klopp,Patrick Diemert,Christina Loley,Anja Medack,Janja Nahrstedt,Annette Peters,Arnika Kathleen Wagner,Christina Willenborg,Bernhard O. Böhm,Harald Dobnig,Tanja B. Grammer,Michael M. Hoffmann,Andreas Meinitzer,Bernhard R. Winkelmann,Stefan Pilz,Wilfried Renner,Hubert Scharnagl,Tatjana Stojakovic,Andreas Tomaschitz,Karl Winkler,Candace Guiducci,Noël P. Burtt,Stacey Gabriel,Sonny Dandona,Olga Jarinova,Liming Qu,Robert L. Wilensky,William H. Matthai,Hakon Hakonarson,Joe Devaney,Mary Susan Burnett,Augusto D. Pichard,Kenneth M. Kent,Lowell F. Satler,Joseph M. Lindsay,Ron Waksman,Christopher W. Knouff,Dawn M. Waterworth,M Walker,Stephen E. Epstein,Daniel J. Rader,Christopher P. Nelson,Benjamin J. Wright,Anthony J. Balmforth,Stephen G. Ball,Laura R. Loehr,Laura R. Loehr,Wayne D. Rosamond,Emelia J. Benjamin,Talin Haritunians,David Couper,Joanne M. Murabito,Ying A. Wang,Bruno H. Stricker,Patricia P. Chang,James T. Willerson,James T. Willerson,Stephan B. Felix,Norbert Watzinger,Jayashri Aragam,Robert Zweiker,Lars Lind,Richard J. Rodeheffer,Karin Halina Greiser,Jaap W. Deckers,Jan Stritzke,Erik Ingelsson,Iftikhar J. Kullo,Johannes Haerting,Thorsten Reffelmann,Margaret M. Redfield,Karl Werdan,Gary F. Mitchell,Donna K. Arnett,John S. Gottdiener,Maria Blettner,Nele Friedrich,Peter Kovacs,Philipp S. Wild,Philippe Froguel,Philippe Froguel,Philippe Froguel,Rainer Rettig,Reedik Mägi,Reiner Biffar,Reinhold Schmidt,Rita P.S. Middelberg,Robert J. Carroll,Brenda W.J.H. Penninx,Rodney J. Scott,Ronit Katz,Sanaz Sedaghat,Sarah H. Wild,Sharon L.R. Kardia,Sheila Ulivi,Shih-Jen Hwang,Stefan Enroth,Stefan Kloiber,Stella Trompet,Bénédicte Stengel,Stephen Hancock,Stephen Turner,Sylvia E. Rosas,Sylvia Stracke,Sylvia Stracke,Tamara B. Harris,Tanja Zeller,Tatijana Zemunik,Terho Lehtimäki,Thomas Illig,Thor Aspelund,Tiit Nikopensius,Tõnu Esko,Tõnu Esko,Toshiko Tanaka,Ulf Gyllensten,Uwe Völker,Valur Emilsson,Veronique Vitart,Ville Aalto,Vilmundur Gudnason,Vincent Chouraki,Wei-Min Chen,Wilmar Igl,Winfried März,Wolfgang Koenig,Wolfgang Lieb,Ruth J. F. Loos,Yongmei Liu,Harold Snieder,Peter P. Pramstaller,Afshin Parsa,Jeffrey R. O'Connell,Katalin Susztak,Pavel Hamet,Johanne Tremblay,Ian H. de Boer,Carsten A. Böger,Wolfram Goessling,Daniel I. Chasman,Anna Köttgen,Anna Köttgen,W. H. Linda Kao,Caroline S. Fox,Caroline S. Fox +735 more
TL;DR: A meta-analysis of genome-wide association studies for estimated glomerular filtration rate suggests that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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Related Papers (5)
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
Daniel F. Gudbjartsson,Patrick Sulem,Simon N. Stacey,Alisa M. Goldstein,Thorunn Rafnar,Bardur Sigurgeirsson,Kristrun R. Benediktsdottir,Kristin Thorisdottir,Rafn Ragnarsson,Steinunn G Sveinsdottir,Veronica Magnusson,Annika Lindblom,Konstantinos Kostulas,Rafael Botella-Estrada,Virtudes Soriano,Pablo Juberías,Matilde Grasa,Berta Saez,Raquel Andrés,Dominique Scherer,Peter Rudnai,Eugene Gurzau,Kvetoslava Koppova,Lambertus A. Kiemeney,Margret Jakobsdottir,Stacy Steinberg,Agnar Helgason,Solveig Gretarsdottir,Margaret A. Tucker,Jose I. Mayordomo,Eduardo Nagore,Rajesh Kumar,Johan Hansson,Jón Ólafsson,Jeffrey R. Gulcher,Augustine Kong,Unnur Thorsteinsdottir,Kari Stefansson +37 more
Genome-wide association study identifies five susceptibility loci for glioma
Sanjay Shete,Fay J. Hosking,Lindsay B. Robertson,Sara E. Dobbins,Marc Sanson,Beatrice Malmer,Matthias Simon,Yannick Marie,Blandine Boisselier,Jean Yves Delattre,Khê Hoang-Xuan,Soufiane El Hallani,Ahmed Idbaih,Diana Zelenika,Ulrika Andersson,Roger Henriksson,A. Tommy Bergenheim,Maria Feychting,Stefan Lönn,Anders Ahlbom,Johannes Schramm,Michael Linnebank,Kari Hemminki,Rajesh Kumar,S. J. Hepworth,Amy Price,Georgina Armstrong,Yanhong Liu,Xiangjun Gu,Robert Yu,Ching C. Lau,Minouk J. Schoemaker,Kenneth Muir,Anthony J. Swerdlow,Mark Lathrop,Melissa L. Bondy,Richard S. Houlston +36 more
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Genetic determinants of hair, eye and skin pigmentation in Europeans.
Patrick Sulem,Daniel F. Gudbjartsson,Simon N. Stacey,Agnar Helgason,Thorunn Rafnar,Kristinn P. Magnusson,Andrei Manolescu,Ari Karason,Arnar Palsson,Gudmar Thorleifsson,Margret Jakobsdottir,Stacy Steinberg,Snæbjörn Pálsson,Fridbert Jonasson,Bardur Sigurgeirsson,Kristin Thorisdottir,Rafn Ragnarsson,Kristrun R. Benediktsdottir,Katja K.H. Aben,Lambertus A. Kiemeney,Jón Ólafsson,Jeffrey R. Gulcher,Augie Kong,Unnur Thorsteinsdottir,Kari Stefansson +24 more
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
Thorunn Rafnar,Patrick Sulem,Simon N. Stacey,Frank Geller,Julius Gudmundsson,Asgeir Sigurdsson,Margret Jakobsdottir,Hafdis T. Helgadottir,Steinunn Thorlacius,Katja K H Aben,Thorarinn Blondal,Thorgeir E. Thorgeirsson,Gudmar Thorleifsson,Kristleifur Kristjansson,Kristin Thorisdottir,Rafn Ragnarsson,Bardur Sigurgeirsson,Halla Skuladottir,Tomas Gudbjartsson,Helgi J Isaksson,Gudmundur V. Einarsson,Kristrun R. Benediktsdottir,Bjarni A. Agnarsson,Karl Olafsson,Anna Salvarsdottir,Hjordis Bjarnason,Margret Asgeirsdottir,Kari T. Kristinsson,Sigurborg Matthiasdottir,Steinunn G Sveinsdottir,Silvia Polidoro,Veronica Höiom,Rafael Botella-Estrada,Kari Hemminki,Peter Rudnai,D. Timothy Bishop,Marcello Campagna,Eliane Kellen,Maurice P. Zeegers,Maurice P. Zeegers,Petra J. de Verdier,Ana Ferrer,Dolores Isla,Maria Vidal,Raquel Andrés,Berta Saez,Pablo Juberías,Javier Banzo,Sebastian Navarrete,Alejandro Tres,Donghui Kan,Annika Lindblom,Eugene Gurzau,Kvetoslava Koppova,Femmie de Vegt,Jack A. Schalken,Henricus F. M. van der Heijden,Hans J Smit,René A Termeer,Egbert Oosterwijk,Onno van Hooij,Eduardo Nagore,Stefano Porru,Gunnar Steineck,Gunnar Steineck,Johan Hansson,Frank Buntinx,Frank Buntinx,William J. Catalona,Giuseppe Matullo,Paolo Vineis,Anne E. Kiltie,Jose I. Mayordomo,Rajesh Kumar,Lambertus A. Kiemeney,Michael L. Frigge,Thorvaldur Jonsson,Hafsteinn Saemundsson,Rosa B. Barkardottir,Eirikur Jonsson,Steinn Jonsson,Jón Ólafsson,Jeffrey R. Gulcher,Gisli Masson,Daniel F. Gudbjartsson,Augustine Kong,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Kari Stefansson,Kari Stefansson +89 more