Open Access
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Felix R. Day,Deborah J. Thompson,Hannes Helgason,Daniel I. Chasman,Hilary K. Finucane,Patrick Sulem,Katherine S. Ruth,Sean Whalen,Abhishek Sarkar,Eva Albrecht,Elisabeth Altmaier,Marzyeh Amini,Caterina Barbieri,Thibaud Boutin,Archie Campbell,Ellen W. Demerath,Ayush Giri,Chunyan He,Jouke J. Hottenga,Robert Karlsson,Ivana Kolchic,Po-Ru Loh,Kathryn L. Lunetta,Massimo Mangino,Brumat Marco,George McMahon,Sarah E. Medland,Ilja M. Nolte,Raymond Noordam,Teresa Nutile,Lavinia Paternoster,Natalia Perjakova,Eleonora Porcu,Lynda M. Rose,Katharina E. Schraut,Ayellet V. Segrè,Albert V. Smith,Lisette Stolk,Alexander Teumer,Irene L. Andrulis,Stefania Bandinelli,Matthias W. Beckmann,Javier Benitez,Sven Bergmann,Murielle Bochud,Eric Boerwinkle,Stig E. Bojesen,Manjeet K. Bolla,Judith S. Brand,Hiltrud Brauch,Hermann Brenner,Linda Broer,Thomas Brüning,Julie E. Buring,Harry Campbell,Eulalia Catamo,Stephen J. Chanock,Georgia Chenevix-Trench,Tanguy Corre,Fergus J. Couch,Diana L. Cousminer,Angela Cox,Laura Crisponi,Kamila Czene,George Davey-Smith,Eco J. C. de Geus,Renée de Mutsert,Immaculata De Vivo,Joe Dennis,Peter Devilee,Isabel dos-Santos-Silva,Alison M. Dunning,Johan G. Eriksson,Peter A. Fasching,Lindsay Fernández-Rhodes,Luigi Ferrucci,Dieter Flesch-Janys,Lude Franke,Marike Gabrielson,Ilaria Gandin,Graham G. Giles,Harald Grallert,Daniel F. Gudbjartsson,Pascal Guéne,Perr Hall,Emily Hallberg,Ute Hamann,Tamara B. Harris,Catharina A. Hartman,Gerardo Heiss,Maartje J. Hooning,John L. Hopper,Frank B. Hu,David J. Hunter,M. Arfan Ikram,Hae Kyung Im,Marjo-Riitta Järvelin,Peter K. Joshi,David Karasik,Zoltán Kutalik,Genevieve Lachance,Diether Lambrechts,Claudia Langenberg,Lenore J. Launer,Joop S.E. Laven,Stefania Lenarduzzi,Jingmei Li,Penelope A. Lind,Sara Lindström,Yongmei Liu,Jian'an Luan,Arto Mannermaa,Hamdi Mbarek,Mark I. McCarthy,Christa Meisinger,Thomas Meitinger,Cristina Menni,Andres Metspalu,Kyriaki Michailidou,Lili Milani,Roger L. Milne,Grant W. Montgomery,Anna Marie Mulligan,Mike A. Nalls,Pau Navarro,Heli Nevanlinna,Dale R. Nyholt,Albertine J. Oldehinkel,Tracy A. O'Mara,Sandosh Padmanabhan,Aarno Palotie,Nancy L. Pedersen,Annette Peters,Julian Peto,Paul D.P. Pharoah,Anneli Pouta,Paolo Radice,Iffat Rahman,Susan M. Ring,Antonietta Robino,Frits R. Rosendaal,Igor Rudan,Rico Rueedi,Daniela Ruggiero,Cinzia Sala,Marjanka K. Schmidt,Robert A. Scott,Mitul Shah,Rossella Sorice,Melissa C. Southey,Ulla Sovio,Meir J. Stampfer,Maristella Steri,Konstantin Strauch,Toshiko Tanaka,Emmi Tikkanen,Nicholas J. Timpson,Michela Traglia,Thérèse Truong,Jonathan Tyrer,André G. Uitterlinden,Digna R. Velez Edwards,Veronique Vitart,Uwe Völker,Peter Vollenweider,Qin Wang,Elisabeth Widen,Ko Willems van Dijk,Gonneke Willemsen,Robert Winqvist,Bruce H. R. Wolffenbuttel,Jing Hua Zhao,Magdalena Zoledziewska,Marek Zygmunt,Behrooz Z. Alizadeh,Dorret I. Boomsma,Marina Ciullo,Francesco Cucca,Tõnu Esko,Nora Franceschini,Christian Gieger,Vilmundur Gudnason,Caroline Hayward,Peter Kraft,Debbie A Lawlor,Patrik K. E. Magnusson,Nicholas G. Martin,Dennis O. Mook-Kanamori,Ellen A. Nohr,Ozren Polasek,David J. Porteous,Alkes L. Price,Paul M. Ridker,Harold Snieder,Tim D. Spector,Doris Stöckl,Daniela Toniolo,Sheila Ulivi,Jenny A. Visser,Henry Völzke,Nicholas J. Wareham,James F. Wilson,Amanda B. Spurdle,Unnur Thorsteindottir,Katherine S. Pollard,Douglas F. Easton,Joyce Y. Tung,Jenny Chang-Claude,David A. Hinds,Anna Murray,Joanne M. Murabito,Kari Stefansson,Ken K. Ong,John R. B. Perry,kConFab,Aocs Investigators +215 more
Reads0
Chats0
TLDR
Using 1000 Genomes Project–imputed genotype data in up to ∼370,000 women, 389 independent signals for age at menarche, a milestone in female pubertal development are identified, highlighting the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility.About:
The article was published on 2017-01-01 and is currently open access. It has received 229 citations till now. The article focuses on the topics: Cancer & Menarche.read more
Citations
More filters
Journal ArticleDOI
Clinical Management of Congenital Hypogonadotropic Hypogonadism
Jacques Young,Jacques Young,Cheng Xu,Georgios Papadakis,James S Acierno,Luigi Maione,Luigi Maione,Johanna Hietamäki,Taneli Raivio,Nelly Pitteloud +9 more
TL;DR: This review is a comprehensive synthesis of the current literature available regarding the diagnosis, patient management, and genetic foundations of CHH relative to normal reproductive development.
Journal ArticleDOI
Sex-dependent dominance maintains migration supergene in rainbow trout
Devon E. Pearse,Nicola J. Barson,Torfinn Nome,Guangtu Gao,Matthew A. Campbell,Alicia Abadía-Cardoso,Eric C. Anderson,David E. Rundio,Thomas N. Williams,Kerry A. Naish,Thomas Moen,Sixin Liu,Matthew Peter Kent,Michel Moser,David R. Minkley,Eric Rondeau,Marine S. O. Brieuc,Simen Rød Sandve,Michael R. Miller,Lucydalila Cedillo,Kobi Baruch,Alvaro G. Hernandez,Gil Ben-Zvi,Doron Shem-Tov,Omer Barad,K. V. Kuzishchin,John Carlos Garza,Steven T. Lindley,Ben F. Koop,Gary H. Thorgaard,Yniv Palti,Sigbjørn Lien +31 more
TL;DR: The results show sex-dependent dominance reversal across a large autosomal supergene, a mechanism for sexual conflict resolution capable of protecting sexually antagonistic variation while avoiding the homozygous lethality and deleterious mutations associated with typical heteromorphic sex chromosomes.
Journal ArticleDOI
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits.
Farhad Hormozdiari,Farhad Hormozdiari,Steven Gazal,Steven Gazal,Bryce van de Geijn,Bryce van de Geijn,Hilary K. Finucane,Hilary K. Finucane,Chelsea J.-T. Ju,Po-Ru Loh,Po-Ru Loh,Armin P. Schoech,Armin P. Schoech,Yakir A. Reshef,Yakir A. Reshef,Xuanyao Liu,Xuanyao Liu,Luke J. O’Connor,Alexander Gusev,Alexander Gusev,Eleazar Eskin,Alkes L. Price,Alkes L. Price +22 more
TL;DR: A new set of functional annotations based on fine-mapped molecular quantitative trait loci from GTEx and BLUEPRINT consortium data are enriched for disease heritability across 41 diseases and complex traits.
Journal ArticleDOI
GWAS of epigenetic aging rates in blood reveals a critical role for TERT
Ake T. Lu,Luting Xue,Elias Salfati,Brian H. Chen,Luigi Ferrucci,Daniel Levy,Roby Joehanes,Joanne M. Murabito,Douglas P. Kiel,Pei-Chien Tsai,Idil Yet,Jordana T. Bell,Massimo Mangino,Toshiko Tanaka,Allan F. McRae,Riccardo E. Marioni,Riccardo E. Marioni,Peter M. Visscher,Naomi R. Wray,Ian J. Deary,Morgan E. Levine,Austin Quach,Themistocles L. Assimes,Philip S. Tsao,Philip S. Tsao,Devin Absher,James D. Stewart,Yun Li,Alexander P. Reiner,Lifang Hou,Andrea A. Baccarelli,Eric A. Whitsel,Abraham Aviv,Alexia Cardona,Felix R. Day,Nicholas J. Wareham,John R. B. Perry,Ken K. Ong,Ken K. Ong,Ken Raj,Kathryn L. Lunetta,Steve Horvath +41 more
TL;DR: In this paper, gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants associated with extrinsic epigenetic ages acceleration (EEAA) were found.
Journal ArticleDOI
Identification of nine new susceptibility loci for endometrial cancer
Tracy A. O'Mara,Dylan M. Glubb,Frédéric Amant,Daniela Annibali,Katie A. Ashton,Katie A. Ashton,John Attia,John Attia,Paul L. Auer,Paul L. Auer,Matthias W. Beckmann,Amanda Black,Manjeet K. Bolla,Hiltrud Brauch,Hiltrud Brauch,Hiltrud Brauch,Hermann Brenner,Louise A. Brinton,Daniel D. Buchanan,Daniel D. Buchanan,Barbara Burwinkel,Barbara Burwinkel,Jenny Chang-Claude,Jenny Chang-Claude,Stephen J. Chanock,Chu Chen,Maxine M. Chen,Timothy H.T. Cheng,Christine L. Clarke,Mark Clendenning,Linda S. Cook,Linda S. Cook,Fergus J. Couch,Angela Cox,Marta Crous-Bous,Marta Crous-Bous,Kamila Czene,Felix R. Day,Joe Dennis,Jeroen Depreeuw,Jennifer A. Doherty,Thilo Dörk,Sean C. Dowdy,Matthias Dürst,Arif B. Ekici,Peter A. Fasching,Peter A. Fasching,Brooke L. Fridley,Christine M. Friedenreich,Lin Fritschi,Jenny N. Fung,Montserrat Garcia-Closas,Mia M. Gaudet,Graham G. Giles,Graham G. Giles,Graham G. Giles,Ellen L. Goode,Maggie Gorman,Christopher A. Haiman,Per Hall,Susan E. Hankison,Susan E. Hankison,Catherine S. Healey,Alexander Hein,Peter Hillemanns,Shirley Hodgson,Erling A. Hoivik,Erling A. Hoivik,Elizabeth G. Holliday,Elizabeth G. Holliday,John L. Hopper,David J. Hunter,Angela M. Jones,Camilla Krakstad,Camilla Krakstad,Vessela N. Kristensen,Vessela N. Kristensen,Diether Lambrechts,Loic Le Marchand,Xiaolin Liang,Annika Lindblom,Jolanta Lissowska,Jirong Long,Lingeng Lu,Anthony M. Magliocco,Lynn Martin,Mark McEvoy,Alfons Meindl,Kyriaki Michailidou,Kyriaki Michailidou,Roger L. Milne,Roger L. Milne,Miriam Mints,Grant W. Montgomery,Grant W. Montgomery,Rami Nassir,Håkan Olsson,Irene Orlow,Geoffrey Otton,Claire Palles,John R. B. Perry,Julian Peto,Loreall Pooler,Jennifer Prescott,Tony Proietto,Timothy R. Rebbeck,Harvey A. Risch,Peter Rogers,Matthias Rübner,Ingo B. Runnebaum,Carlotta Sacerdote,Gloria E. Sarto,Fredrick R. Schumacher,Rodney J. Scott,V. Wendy Setiawan,Mitul Shah,Xin Sheng,Xiao-Ou Shu,Melissa C. Southey,Melissa C. Southey,Anthony J. Swerdlow,Emma Tham,Jone Trovik,Jone Trovik,Constance Turman,Jonathan Tyrer,Celine M. Vachon,David Van Den Berg,Adriaan Vanderstichele,Zhaoming Wang,Penelope M. Webb,Nicolas Wentzensen,Henrica M.J. Werner,Henrica M.J. Werner,Stacey J. Winham,Alicja Wolk,Lucy Xia,Yong-Bing Xiang,Hannah P. Yang,Herbert Yu,Wei Zheng,Paul D.P. Pharoah,Alison M. Dunning,Peter Kraft,Immaculata De Vivo,Immaculata De Vivo,Ian Tomlinson,Ian Tomlinson,Douglas F. Easton,Amanda B. Spurdle,Deborah J. Thompson +150 more
TL;DR: This study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study and eQTL analysis reveals risk variants associate with reduced expression of negative regulators of oncogenic signal transduction proteins.
References
More filters
Journal ArticleDOI
The Genotype-Tissue Expression (GTEx) project
John T. Lonsdale,Jeffrey Thomas,Mike Salvatore,Rebecca Phillips,Edmund Lo,Saboor Shad,Richard Hasz,Gary Walters,Fernando U. Garcia,Nancy Young,Barbara A. Foster,Mike Moser,Ellen Karasik,Bryan Gillard,Kimberley Ramsey,Susan L. Sullivan,Jason Bridge,Harold Magazine,John Syron,Johnelle Fleming,Laura A. Siminoff,Heather M. Traino,Maghboeba Mosavel,Laura Barker,Scott D. Jewell,Daniel C. Rohrer,Dan Maxim,Dana Filkins,Philip Harbach,Eddie Cortadillo,Bree Berghuis,Lisa Turner,Eric Hudson,Kristin Feenstra,Leslie H. Sobin,James A. Robb,Phillip Branton,Greg E. Korzeniewski,Charles Shive,David Tabor,Liqun Qi,Kevin Groch,Sreenath Nampally,Steve Buia,Angela Zimmerman,Anna M. Smith,Robin Burges,Karna Robinson,Kim Valentino,Deborah Bradbury,Mark Cosentino,Norma Diaz-Mayoral,Mary Kennedy,Theresa Engel,Penelope Williams,Kenyon Erickson,Kristin G. Ardlie,Wendy Winckler,Gad Getz,Gad Getz,David S. DeLuca,MacArthur Daniel MacArthur,MacArthur Daniel MacArthur,Manolis Kellis,Alexander Thomson,Taylor Young,Ellen Gelfand,Molly Donovan,Yan Meng,George B. Grant,Deborah C. Mash,Yvonne Marcus,Margaret J. Basile,Jun Liu,Jun Zhu,Zhidong Tu,Nancy J. Cox,Dan L. Nicolae,Eric R. Gamazon,Hae Kyung Im,Anuar Konkashbaev,Jonathan K. Pritchard,Jonathan K. Pritchard,Matthew Stevens,Timothée Flutre,Xiaoquan Wen,Emmanouil T. Dermitzakis,Tuuli Lappalainen,Roderic Guigó,Jean Monlong,Michael Sammeth,Daphne Koller,Alexis Battle,Sara Mostafavi,Mark I. McCarthy,Manual Rivas,Julian Maller,Ivan Rusyn,Andrew B. Nobel,Fred A. Wright,Andrey A. Shabalin,Mike Feolo,Nataliya Sharopova,Anne Sturcke,Justin Paschal,James M. Anderson,Elizabeth L. Wilder,Leslie Derr,Eric D. Green,Jeffery P. Struewing,Gary F. Temple,Simona Volpi,Joy T. Boyer,Elizabeth J. Thomson,Mark S. Guyer,Cathy Ng,Assya Abdallah,Deborah Colantuoni,Thomas R. Insel,Susan E. Koester,Roger Little,Patrick Bender,Thomas Lehner,Yin Yao,Carolyn C. Compton,Jimmie B. Vaught,Sherilyn Sawyer,Nicole C. Lockhart,Joanne P. Demchok,Helen F. Moore +129 more
TL;DR: The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
Journal ArticleDOI
UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age
Cathie Sudlow,John Gallacher,Naomi E. Allen,Valerie Beral,Paul Burton,John Danesh,Paul Downey,Paul Elliott,Jane Green,Martin J Landray,Bette Liu,Paul M. Matthews,Giok Ong,Jill P. Pell,Alan J. Silman,Alan Young,Tim Sprosen,Tim Peakman,Rory Collins +18 more
TL;DR: The UK Biobank is described, a large population-based prospective study, established to allow investigation of the genetic and non-genetic determinants of the diseases of middle and old age.
Journal ArticleDOI
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
Suhas S.P. Rao,Miriam H. Huntley,Neva C. Durand,Elena K. Stamenova,Ivan D. Bochkov,James T. Robinson,James T. Robinson,Adrian L. Sanborn,Ido Machol,Ido Machol,Arina D. Omer,Arina D. Omer,Eric S. Lander,Eric S. Lander,Eric S. Lander,Erez Lieberman Aiden +15 more
TL;DR: In situ Hi-C is used to probe the 3D architecture of genomes, constructing haploid and diploid maps of nine cell types, identifying ∼10,000 loops that frequently link promoters and enhancers, correlate with gene activation, and show conservation across cell types and species.
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje,Wouter Meuleman,Jason Ernst,Angela Yen,Pouya Kheradpour,Zhizhuo Zhang,Jianrong Wang,Lucas D. Ward,Abhishek Sarkar,Gerald Quon,Matthew L. Eaton,Yi-Chieh Wu,Andreas R. Pfenning,Xinchen Wang,Melina Claussnitzer,Yaping Liu,Mukul S. Bansal,Soheil Feizi-Khankandi,Ah Ram Kim,Richard C Sallari,Nicholas A Sinnott-Armstrong,Laurie A. Boyer,Elizabeta Gjoneska,Li-Huei Tsai,Manolis Kellis +24 more
TL;DR: In this article, the authors describe the integrative analysis of 111 reference human epigenomes generated as part of the NIH Roadmap Epigenomics Consortium, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression.
Journal ArticleDOI
METAL: fast and efficient meta-analysis of genomewide association scans.
TL;DR: METAL provides a computationally efficient tool for meta-analysis of genome-wide association scans, which is a commonly used approach for improving power complex traits gene mapping studies.
Related Papers (5)
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty
Diana L. Cousminer,Evangelia Stergiakouli,Diane J. Berry,Wei Ang,Maria M. Groen-Blokhuis,Antje Körner,Niina Siitonen,Ioanna Ntalla,Marcella Marinelli,John R. B. Perry,Johannes Kettunen,Rick Jansen,Ida Surakka,Nicholas J. Timpson,Susan M. Ring,George McMahon,Chris Power,Carol A. Wang,Mika Kähönen,Jorma Viikari,Terho Lehtimäki,Christel M. Middeldorp,Hilleke E. Hulshoff Pol,M. Neef,Sebastian Weise,Katja Pahkala,Harri Niinikoski,Eleftheria Zeggini,Kalliope Panoutsopoulou,Mariona Bustamante,Brenda W.J.H. Penninx,Joanne M. Murabito,Maties Torrent,George Dedoussis,Wieland Kiess,Dorret I. Boomsma,Craig E. Pennell,Olli T. Raitakari,Elina Hyppönen,George Davey Smith,Samuli Ripatti,Mark I. McCarthy,Elisabeth Widen +42 more