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  • Article |

    Stat3 depletion in pluripotent cells decreases α-ketoglutarate and increases the expression of Otx2 and its targets Dnmt3a and Dnmt3b, leading to global DNA hypermethylation.

    • Riccardo M. Betto
    • , Linda Diamante
    • , Valentina Perrera
    • , Matteo Audano
    • , Stefania Rapelli
    • , Andrea Lauria
    • , Danny Incarnato
    • , Mattia Arboit
    • , Silvia Pedretti
    • , Giovanni Rigoni
    • , Vincent Guerineau
    • , David Touboul
    • , Giuliano Giuseppe Stirparo
    • , Tim Lohoff
    • , Thorsten Boroviak
    • , Paolo Grumati
    • , Maria E. Soriano
    • , Jennifer Nichols
    • , Nico Mitro
    • , Salvatore Oliviero
    •  & Graziano Martello

  • Article |

    Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in individuals of European and African ancestry provide insights into its relationship with anxiety and depressive disorders and identify potential candidates for drug repositioning.

    • Murray B. Stein
    • , Daniel F. Levey
    • , Zhongshan Cheng
    • , Frank R. Wendt
    • , Kelly Harrington
    • , Gita A. Pathak
    • , Kelly Cho
    • , Rachel Quaden
    • , Krishnan Radhakrishnan
    • , Matthew J. Girgenti
    • , Yuk-Lam Anne Ho
    • , Daniel Posner
    • , Mihaela Aslan
    • , Ronald S. Duman
    • , Hongyu Zhao
    • , Murray B. Stein
    • , Daniel F. Levey
    • , Zhongshan Cheng
    • , Frank R. Wendt
    • , Gita A. Pathak
    • , Krishnan Radhakrishnan
    • , Mihaela Aslan
    • , Hongyu Zhao
    • , Renato Polimanti
    • , John Concato
    • , Joel Gelernter
    • , Murray B. Stein
    • , Daniel F. Levey
    • , Zhongshan Cheng
    • , Frank R. Wendt
    • , Kelly Harrington
    • , Gita A. Pathak
    • , Kelly Cho
    • , Rachel Quaden
    • , Yuk-Lam Anne Ho
    • , Daniel Posner
    • , Renato Polimanti
    • , John Concato
    • , Joel Gelernter
    • , Renato Polimanti
    • , John Concato
    •  & Joel Gelernter

  • Letter |

    Integrating human brain proteomes with genome-wide association data followed by Mendelian randomization identifies 11 genes with potentially causal roles in Alzheimer’s disease pathogenesis.

    • Aliza P. Wingo
    • , Yue Liu
    • , Ekaterina S. Gerasimov
    • , Jake Gockley
    • , Benjamin A. Logsdon
    • , Duc M. Duong
    • , Eric B. Dammer
    • , Chloe Robins
    • , Thomas G. Beach
    • , Eric M. Reiman
    • , Michael P. Epstein
    • , Philip L. De Jager
    • , James J. Lah
    • , David A. Bennett
    • , Nicholas T. Seyfried
    • , Allan I. Levey
    •  & Thomas S. Wingo

  • Letter |

    Chromosomal inversions at the mimicry locus of Heliconius numata butterflies accumulate deleterious variants. This leads to selection against homozygosity, in opposition to positive selection for mimicry, resulting in intermediate allele frequency.

    • Paul Jay
    • , Mathieu Chouteau
    • , Annabel Whibley
    • , Héloïse Bastide
    • , Hugues Parrinello
    • , Violaine Llaurens
    •  & Mathieu Joron

  • Letter |

    Genome-wide analyses identify multiple loci associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular (LV) traits. Cardiomyopathies exhibit strong genetic correlations with LV traits, with opposing effects in HCM and DCM.

    • Rafik Tadros
    • , Catherine Francis
    • , Xiao Xu
    • , Alexa M. C. Vermeer
    • , Andrew R. Harper
    • , Roy Huurman
    • , Ken Kelu Bisabu
    • , Roddy Walsh
    • , Edgar T. Hoorntje
    • , Wouter P. te Rijdt
    • , Rachel J. Buchan
    • , Hannah G. van Velzen
    • , Marjon A. van Slegtenhorst
    • , Jentien M. Vermeulen
    • , Joost Allard Offerhaus
    • , Wenjia Bai
    • , Antonio de Marvao
    • , Najim Lahrouchi
    • , Leander Beekman
    • , Jacco C. Karper
    • , Jan H. Veldink
    • , Elham Kayvanpour
    • , Antonis Pantazis
    • , A. John Baksi
    • , Nicola Whiffin
    • , Francesco Mazzarotto
    • , Geraldine Sloane
    • , Hideaki Suzuki
    • , Deborah Schneider-Luftman
    • , Paul Elliott
    • , Pascale Richard
    • , Flavie Ader
    • , Eric Villard
    • , Peter Lichtner
    • , Thomas Meitinger
    • , Michael W. T. Tanck
    • , J. Peter van Tintelen
    • , Andrew Thain
    • , David McCarty
    • , Robert A. Hegele
    • , Jason D. Roberts
    • , Julie Amyot
    • , Marie-Pierre Dubé
    • , Julia Cadrin-Tourigny
    • , Geneviève Giraldeau
    • , Philippe L. L’Allier
    • , Patrick Garceau
    • , Jean-Claude Tardif
    • , S. Matthijs Boekholdt
    • , R. Thomas Lumbers
    • , Folkert W. Asselbergs
    • , Paul J. R. Barton
    • , Stuart A. Cook
    • , Sanjay K. Prasad
    • , Declan P. O’Regan
    • , Jolanda van der Velden
    • , Karin J. H. Verweij
    • , Mario Talajic
    • , Guillaume Lettre
    • , Yigal M. Pinto
    • , Benjamin Meder
    • , Philippe Charron
    • , Rudolf A. de Boer
    • , Imke Christiaans
    • , Michelle Michels
    • , Arthur A. M. Wilde
    • , Hugh Watkins
    • , Paul M. Matthews
    • , James S. Ware
    •  & Connie R. Bezzina

  • Letter |

    Genome-wide association analyses identify 12 susceptibility loci for hypertrophic cardiomyopathy (HCM). A genetic risk score for HCM was associated with disease status in a validation study and influenced phenotypic severity in carriers of risk variants in sarcomere genes.

    • Andrew R. Harper
    • , Anuj Goel
    • , Christopher Grace
    • , Kate L. Thomson
    • , Steffen E. Petersen
    • , Xiao Xu
    • , Adam Waring
    • , Elizabeth Ormondroyd
    • , Christopher M. Kramer
    • , Carolyn Y. Ho
    • , Stefan Neubauer
    • , Paul Kolm
    • , Raymond Kwong
    • , Sarahfaye F. Dolman
    • , Patrice Desvigne-Nickens
    • , John P. Dimarco
    • , Nancy Geller
    • , Dong-Yun Kim
    • , Cheng Zhang
    • , William Weintraub
    • , Theodore Abraham
    • , Lisa Anderson
    • , Evan Appelbaum
    • , Camillo Autore
    • , Colin Berry
    • , Elena Biagini
    • , William Bradlow
    • , Chiara Bucciarelli-Ducci
    • , Amedeo Chiribiri
    • , Lubna Choudhury
    • , Andrew Crean
    • , Dana Dawson
    • , Milind Y. Desai
    • , Eleanor Elstein
    • , Andrew Flett
    • , Matthias Friedrich
    • , Stephen Heitner
    • , Adam Helms
    • , Daniel L. Jacoby
    • , Han Kim
    • , Bette Kim
    • , Eric Larose
    • , Masliza Mahmod
    • , Heiko Mahrholdt
    • , Martin Maron
    • , Gerry McCann
    • , Michelle Michels
    • , Saidi Mohiddin
    • , Sherif Nagueh
    • , David Newby
    • , Iacopo Olivotto
    • , Anjali Owens
    • , F. Pierre-Mongeon
    • , Sanjay Prasad
    • , Ornella Rimoldi
    • , Michael Salerno
    • , Jeanette Schulz-Menger
    • , Mark Sherrid
    • , Peter Swoboda
    • , Albert van Rossum
    • , Jonathan Weinsaft
    • , James White
    • , Eric Williamson
    • , Rafik Tadros
    • , James S. Ware
    • , Connie R. Bezzina
    • , Martin Farrall
    •  & Hugh Watkins

  • Publisher Correction |

    • David V. Conti
    • , Burcu F. Darst
    • , Lilit C. Moss
    • , Edward J. Saunders
    • , Xin Sheng
    • , Alisha Chou
    • , Fredrick R. Schumacher
    • , Ali Amin Al Olama
    • , Sara Benlloch
    • , Tokhir Dadaev
    • , Mark N. Brook
    • , Ali Sahimi
    • , Thomas J. Hoffmann
    • , Atushi Takahashi
    • , Koichi Matsuda
    • , Yukihide Momozawa
    • , Masashi Fujita
    • , Kenneth Muir
    • , Artitaya Lophatananon
    • , Peggy Wan
    • , Loic Le Marchand
    • , Lynne R. Wilkens
    • , Victoria L. Stevens
    • , Susan M. Gapstur
    • , Brian D. Carter
    • , Johanna Schleutker
    • , Teuvo L. J. Tammela
    • , Csilla Sipeky
    • , Anssi Auvinen
    • , Graham G. Giles
    • , Melissa C. Southey
    • , Robert J. MacInnis
    • , Cezary Cybulski
    • , Dominika Wokołorczyk
    • , Jan Lubiński
    • , David E. Neal
    • , Jenny L. Donovan
    • , Freddie C. Hamdy
    • , Richard M. Martin
    • , Børge G. Nordestgaard
    • , Sune F. Nielsen
    • , Maren Weischer
    • , Stig E. Bojesen
    • , Martin Andreas Røder
    • , Peter Iversen
    • , Jyotsna Batra
    • , Suzanne Chambers
    • , Leire Moya
    • , Lisa Horvath
    • , Judith A. Clements
    • , Wayne Tilley
    • , Gail P. Risbridger
    • , Henrik Gronberg
    • , Markus Aly
    • , Robert Szulkin
    • , Martin Eklund
    • , Tobias Nordström
    • , Nora Pashayan
    • , Alison M. Dunning
    • , Maya Ghoussaini
    • , Ruth C. Travis
    • , Tim J. Key
    • , Elio Riboli
    • , Jong Y. Park
    • , Thomas A. Sellers
    • , Hui-Yi Lin
    • , Demetrius Albanes
    • , Stephanie J. Weinstein
    • , Lorelei A. Mucci
    • , Edward Giovannucci
    • , Sara Lindstrom
    • , Peter Kraft
    • , David J. Hunter
    • , Kathryn L. Penney
    • , Constance Turman
    • , Catherine M. Tangen
    • , Phyllis J. Goodman
    • , Ian M. Thompson Jr.
    • , Robert J. Hamilton
    • , Neil E. Fleshner
    • , Antonio Finelli
    • , Marie-Élise Parent
    • , Janet L. Stanford
    • , Elaine A. Ostrander
    • , Milan S. Geybels
    • , Stella Koutros
    • , Laura E. Beane Freeman
    • , Meir Stampfer
    • , Alicja Wolk
    • , Niclas Håkansson
    • , Gerald L. Andriole
    • , Robert N. Hoover
    • , Mitchell J. Machiela
    • , Karina Dalsgaard Sørensen
    • , Michael Borre
    • , William J. Blot
    • , Wei Zheng
    • , Edward D. Yeboah
    • , James E. Mensah
    • , Yong-Jie Lu
    • , Hong-Wei Zhang
    • , Ninghan Feng
    • , Xueying Mao
    • , Yudong Wu
    • , Shan-Chao Zhao
    • , Zan Sun
    • , Stephen N. Thibodeau
    • , Shannon K. McDonnell
    • , Daniel J. Schaid
    • , Catharine M. L. West
    • , Neil Burnet
    • , Gill Barnett
    • , Christiane Maier
    • , Thomas Schnoeller
    • , Manuel Luedeke
    • , Adam S. Kibel
    • , Bettina F. Drake
    • , Olivier Cussenot
    • , Géraldine Cancel-Tassin
    • , Florence Menegaux
    • , Thérèse Truong
    • , Yves Akoli Koudou
    • , Esther M. John
    • , Eli Marie Grindedal
    • , Lovise Maehle
    • , Kay-Tee Khaw
    • , Sue A. Ingles
    • , Mariana C. Stern
    • , Ana Vega
    • , Antonio Gómez-Caamaño
    • , Laura Fachal
    • , Barry S. Rosenstein
    • , Sarah L. Kerns
    • , Harry Ostrer
    • , Manuel R. Teixeira
    • , Paula Paulo
    • , Andreia Brandão
    • , Stephen Watya
    • , Alexander Lubwama
    • , Jeannette T. Bensen
    • , Elizabeth T. H. Fontham
    • , James Mohler
    • , Jack A. Taylor
    • , Manolis Kogevinas
    • , Javier Llorca
    • , Gemma Castaño-Vinyals
    • , Lisa Cannon-Albright
    • , Craig C. Teerlink
    • , Chad D. Huff
    • , Sara S. Strom
    • , Luc Multigner
    • , Pascal Blanchet
    • , Laurent Brureau
    • , Radka Kaneva
    • , Chavdar Slavov
    • , Vanio Mitev
    • , Robin J. Leach
    • , Brandi Weaver
    • , Hermann Brenner
    • , Katarina Cuk
    • , Bernd Holleczek
    • , Kai-Uwe Saum
    • , Eric A. Klein
    • , Ann W. Hsing
    • , Rick A. Kittles
    • , Adam B. Murphy
    • , Christopher J. Logothetis
    • , Jeri Kim
    • , Susan L. Neuhausen
    • , Linda Steele
    • , Yuan Chun Ding
    • , William B. Isaacs
    • , Barbara Nemesure
    • , Anselm J. M. Hennis
    • , John Carpten
    • , Hardev Pandha
    • , Agnieszka Michael
    • , Kim De Ruyck
    • , Gert De Meerleer
    • , Piet Ost
    • , Jianfeng Xu
    • , Azad Razack
    • , Jasmine Lim
    • , Soo-Hwang Teo
    • , Lisa F. Newcomb
    • , Daniel W. Lin
    • , Jay H. Fowke
    • , Christine Neslund-Dudas
    • , Benjamin A. Rybicki
    • , Marija Gamulin
    • , Davor Lessel
    • , Tomislav Kulis
    • , Nawaid Usmani
    • , Sandeep Singhal
    • , Matthew Parliament
    • , Frank Claessens
    • , Steven Joniau
    • , Thomas Van den Broeck
    • , Manuela Gago-Dominguez
    • , Jose Esteban Castelao
    • , Maria Elena Martinez
    • , Samantha Larkin
    • , Paul A. Townsend
    • , Claire Aukim-Hastie
    • , William S. Bush
    • , Melinda C. Aldrich
    • , Dana C. Crawford
    • , Shiv Srivastava
    • , Jennifer C. Cullen
    • , Gyorgy Petrovics
    • , Graham Casey
    • , Monique J. Roobol
    • , Guido Jenster
    • , Ron H. N. van Schaik
    • , Jennifer J. Hu
    • , Maureen Sanderson
    • , Rohit Varma
    • , Roberta McKean-Cowdin
    • , Mina Torres
    • , Nicholas Mancuso
    • , Sonja I. Berndt
    • , Stephen K. Van Den Eeden
    • , Douglas F. Easton
    • , Stephen J. Chanock
    • , Michael B. Cook
    • , Fredrik Wiklund
    • , Hidewaki Nakagawa
    • , John S. Witte
    • , Rosalind A. Eeles
    • , Zsofia Kote-Jarai
    •  & Christopher A. Haiman

  • Article |

    Genetic analysis of 35 blood and urine laboratory measurements from 363,228 individuals identifies 1,857 loci associated with at least one laboratory value.

    • Nasa Sinnott-Armstrong
    • , Yosuke Tanigawa
    • , David Amar
    • , Nina Mars
    • , Christian Benner
    • , Matthew Aguirre
    • , Guhan Ram Venkataraman
    • , Michael Wainberg
    • , Hanna M. Ollila
    • , Tuomo Kiiskinen
    • , Aki S. Havulinna
    • , James P. Pirruccello
    • , Junyang Qian
    • , Anna Shcherbina
    • , Fatima Rodriguez
    • , Themistocles L. Assimes
    • , Vineeta Agarwala
    • , Robert Tibshirani
    • , Trevor Hastie
    • , Samuli Ripatti
    • , Jonathan K. Pritchard
    • , Mark J. Daly
    •  & Manuel A. Rivas

  • Article |

    Analysis of human genotypes and 16S microbiome data of 18,473 individuals from 25 cohorts through a genome-wide association study, a phenome-wide association study and Mendelian randomization identifies host genetic and microbial trait associations.

    • Alexander Kurilshikov
    • , Carolina Medina-Gomez
    • , Rodrigo Bacigalupe
    • , Djawad Radjabzadeh
    • , Jun Wang
    • , Ayse Demirkan
    • , Caroline I. Le Roy
    • , Juan Antonio Raygoza Garay
    • , Casey T. Finnicum
    • , Xingrong Liu
    • , Daria V. Zhernakova
    • , Marc Jan Bonder
    • , Tue H. Hansen
    • , Fabian Frost
    • , Malte C. Rühlemann
    • , Williams Turpin
    • , Jee-Young Moon
    • , Han-Na Kim
    • , Kreete Lüll
    • , Elad Barkan
    • , Shiraz A. Shah
    • , Myriam Fornage
    • , Joanna Szopinska-Tokov
    • , Zachary D. Wallen
    • , Dmitrii Borisevich
    • , Lars Agreus
    • , Anna Andreasson
    • , Corinna Bang
    • , Larbi Bedrani
    • , Jordana T. Bell
    • , Hans Bisgaard
    • , Michael Boehnke
    • , Dorret I. Boomsma
    • , Robert D. Burk
    • , Annique Claringbould
    • , Kenneth Croitoru
    • , Gareth E. Davies
    • , Cornelia M. van Duijn
    • , Liesbeth Duijts
    • , Gwen Falony
    • , Jingyuan Fu
    • , Adriaan van der Graaf
    • , Torben Hansen
    • , Georg Homuth
    • , David A. Hughes
    • , Richard G. Ijzerman
    • , Matthew A. Jackson
    • , Vincent W. V. Jaddoe
    • , Marie Joossens
    • , Torben Jørgensen
    • , Daniel Keszthelyi
    • , Rob Knight
    • , Markku Laakso
    • , Matthias Laudes
    • , Lenore J. Launer
    • , Wolfgang Lieb
    • , Aldons J. Lusis
    • , Ad A. M. Masclee
    • , Henriette A. Moll
    • , Zlatan Mujagic
    • , Qi Qibin
    • , Daphna Rothschild
    • , Hocheol Shin
    • , Søren J. Sørensen
    • , Claire J. Steves
    • , Jonathan Thorsen
    • , Nicholas J. Timpson
    • , Raul Y. Tito
    • , Sara Vieira-Silva
    • , Uwe Völker
    • , Henry Völzke
    • , Urmo Võsa
    • , Kaitlin H. Wade
    • , Susanna Walter
    • , Kyoko Watanabe
    • , Stefan Weiss
    • , Frank U. Weiss
    • , Omer Weissbrod
    • , Harm-Jan Westra
    • , Gonneke Willemsen
    • , Haydeh Payami
    • , Daisy M. A. E. Jonkers
    • , Alejandro Arias Vasquez
    • , Eco J. C. de Geus
    • , Katie A. Meyer
    • , Jakob Stokholm
    • , Eran Segal
    • , Elin Org
    • , Cisca Wijmenga
    • , Hyung-Lae Kim
    • , Robert C. Kaplan
    • , Tim D. Spector
    • , Andre G. Uitterlinden
    • , Fernando Rivadeneira
    • , Andre Franke
    • , Markus M. Lerch
    • , Lude Franke
    • , Serena Sanna
    • , Mauro D’Amato
    • , Oluf Pedersen
    • , Andrew D. Paterson
    • , Robert Kraaij
    • , Jeroen Raes
    •  & Alexandra Zhernakova

  • Letter |

    Genome-wide association analysis of 8,956 German individuals identifies 38 genetic loci associated with single bacteria and overall microbiome composition.

    • Malte Christoph Rühlemann
    • , Britt Marie Hermes
    • , Corinna Bang
    • , Shauni Doms
    • , Lucas Moitinho-Silva
    • , Louise Bruun Thingholm
    • , Fabian Frost
    • , Frauke Degenhardt
    • , Michael Wittig
    • , Jan Kässens
    • , Frank Ulrich Weiss
    • , Annette Peters
    • , Klaus Neuhaus
    • , Uwe Völker
    • , Henry Völzke
    • , Georg Homuth
    • , Stefan Weiss
    • , Harald Grallert
    • , Matthias Laudes
    • , Wolfgang Lieb
    • , Dirk Haller
    • , Markus M. Lerch
    • , John F. Baines
    •  & Andre Franke