Variants in the fetal genome near FLT1 are associated with risk of preeclampsia
We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5.4 × 10−11) in 4,380 cases and 310,238 controls. This locus is near the FLT1 gene encoding Fms-like tyrosine kinase 1, providing biological support, as a placental isoform of this protein (sFlt-1) is implicated in the pathology of preeclampsia. The association was strongest in offspring from pregnancies in which preeclampsia developed during late gestation and offspring birth weights exceeded the tenth centile. An additional nearby variant, rs12050029, assoc...
Source: Nature Genetics - June 19, 2017 Category: Genetics & Stem Cells Authors: Ralph McGinnis Valgerdur Steinthorsdottir Nicholas O Williams Gudmar Thorleifsson Scott Shooter Sigrun Hjartardottir Suzannah Bumpstead Lilja Stefansdottir Lucy Hildyard Jon K Sigurdsson John P Kemp Gabriela B Silva Liv Cecilie V Thomsen Tiina J ä ä ske Tags: Letter Source Type: research
Truncating mutations in RBM12 are associated with psychosis
Nature Genetics 49, 1251 (2017).
doi:10.1038/ng.3894
Authors: Stacy Steinberg, Steinunn Gudmundsdottir, Gardar Sveinbjornsson, Jaana Suvisaari, Tiina Paunio, Minna Torniainen-Holm, Michael L Frigge, Gudrun A Jonsdottir, Johanna Huttenlocher, Sunna Arnarsdottir, Oddur Ingimarsson, Magnus Haraldsson, Thorarinn Tyrfingsson, Thorgeir E Thorgeirsson, Augustine Kong, Gudmundur L Norddahl, Daniel F Gudbjartsson, Engilbert Sigurdsson, Hreinn Stefansson & Kari Stefansson
Thus far, a handful of highly penetrant mutations conferring risk of psychosis have been discovered. Here we used whole-genome sequencing and long-rang...
Source: Nature Genetics - June 19, 2017 Category: Genetics & Stem Cells Authors: Stacy Steinberg Steinunn Gudmundsdottir Gardar Sveinbjornsson Jaana Suvisaari Tiina Paunio Minna Torniainen-Holm Michael L Frigge Gudrun A Jonsdottir Johanna Huttenlocher Sunna Arnarsdottir Oddur Ingimarsson Magnus Haraldsson Thorarinn Tyrfingsson Thorgei Tags: Letter Source Type: research
Germline hypomorphic CARD11 mutations in severe atopic disease
Nature Genetics 49, 1192 (2017).
doi:10.1038/ng.3898
Authors: Chi A Ma, Jeffrey R Stinson, Yuan Zhang, Jordan K Abbott, Michael A Weinreich, Pia J Hauk, Paul R Reynolds, Jonathan J Lyons, Celeste G Nelson, Elisa Ruffo, Batsukh Dorjbal, Salomé Glauzy, Natsuko Yamakawa, Swadhinya Arjunaraja, Kelsey Voss, Jennifer Stoddard, Julie Niemela, Yu Zhang, Sergio D Rosenzweig, Joshua J McElwee, Thomas DiMaggio, Helen F Matthews, Nina Jones, Kelly D Stone, Alejandro Palma, Matías Oleastro, Emma Prieto, Andrea R Bernasconi, Geronimo Dubra, Silvia Danielian, Jonathan Zaiat, Marcelo A Marti, Brian Kim, Megan A Cooper, N...
Source: Nature Genetics - June 19, 2017 Category: Genetics & Stem Cells Authors: Chi A Ma Jeffrey R Stinson Yuan Zhang Jordan K Abbott Michael A Weinreich Pia J Hauk Paul R Reynolds Jonathan J Lyons Celeste G Nelson Elisa Ruffo Batsukh Dorjbal Salom é Glauzy Natsuko Yamakawa Swadhinya Arjunaraja Kelsey Voss Jennifer Stoddard Julie N Tags: Article Source Type: research
Identification of sequence variants influencing immunoglobulin levels
Nature Genetics 49, 1182 (2017).
doi:10.1038/ng.3897
Authors: Stefan Jonsson, Gardar Sveinbjornsson, Aitzkoa Lopez de Lapuente Portilla, Bhairavi Swaminathan, Rosina Plomp, Gillian Dekkers, Ram Ajore, Mina Ali, Arthur E H Bentlage, Evelina Elmér, Gudmundur I Eyjolfsson, Sigurjon A Gudjonsson, Urban Gullberg, Arnaldur Gylfason, Bjarni V Halldorsson, Markus Hansson, Hilma Holm, Åsa Johansson, Ellinor Johnsson, Aslaug Jonasdottir, Bjorn R Ludviksson, Asmundur Oddsson, Isleifur Olafsson, Sigurgeir Olafsson, Olof Sigurdardottir, Asgeir Sigurdsson, Lilja Stefansdottir, Gisli Masson, Patrick Sulem, Manfred Wuhre...
Source: Nature Genetics - June 19, 2017 Category: Genetics & Stem Cells Authors: Stefan Jonsson Gardar Sveinbjornsson Aitzkoa Lopez de Lapuente Portilla Bhairavi Swaminathan Rosina Plomp Gillian Dekkers Ram Ajore Mina Ali Arthur E H Bentlage Evelina Elm é r Gudmundur I Eyjolfsson Sigurjon A Gudjonsson Urban Gullberg Arnaldur Gylfason Tags: Article Source Type: research
Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits
Nature Genetics 49, 1584 (2017).
doi:10.1038/ng.3888
Authors: Anke R Hammerschlag, Sven Stringer, Christiaan A de Leeuw, Suzanne Sniekers, Erdogan Taskesen, Kyoko Watanabe, Tessa F Blanken, Kim Dekker, Bart H W te Lindert, Rick Wassing, Ingileif Jonsdottir, Gudmar Thorleifsson, Hreinn Stefansson, Thorarinn Gislason, Klaus Berger, Barbara Schormair, Juergen Wellmann, Juliane Winkelmann, Kari Stefansson, Konrad Oexle, Eus J W Van Someren & Danielle Posthuma (Source: Nature Genetics)
Source: Nature Genetics - June 12, 2017 Category: Genetics & Stem Cells Authors: Anke R Hammerschlag Sven Stringer Christiaan A de Leeuw Suzanne Sniekers Erdogan Taskesen Kyoko Watanabe Tessa F Blanken Kim Dekker Bart H W te Lindert Rick Wassing Ingileif Jonsdottir Gudmar Thorleifsson Hreinn Stefansson Thorarinn Gislason Klaus Berger Tags: Article Source Type: research
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor
Nature Genetics 49, 1141 (2017).
doi:10.1038/ng.3879
Authors: Zhaoming Wang, Katherine A McGlynn, Ewa Rajpert-De Meyts, D Timothy Bishop, Charles C Chung, Marlene D Dalgaard, Mark H Greene, Ramneek Gupta, Tom Grotmol, Trine B Haugen, Robert Karlsson, Kevin Litchfield, Nandita Mitra, Kasper Nielsen, Louise C Pyle, Stephen M Schwartz, Vésteinn Thorsson, Saran Vardhanabhuti, Fredrik Wiklund, Clare Turnbull, Stephen J Chanock, Peter A Kanetsky & Katherine L Nathanson
The international Testicular Cancer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumor (TGC...
Source: Nature Genetics - June 12, 2017 Category: Genetics & Stem Cells Authors: Zhaoming Wang Katherine A McGlynn Ewa Rajpert-De Meyts D Timothy Bishop Charles C Chung Marlene D Dalgaard Mark H Greene Ramneek Gupta Tom Grotmol Trine B Haugen Robert Karlsson Kevin Litchfield Nandita Mitra Kasper Nielsen Louise C Pyle Stephen M Schwart Tags: Letter Source Type: research
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor
Nature Genetics 49, 1133 (2017).
doi:10.1038/ng.3896
Authors: Kevin Litchfield, Max Levy, Giulia Orlando, Chey Loveday, Philip J Law, Gabriele Migliorini, Amy Holroyd, Peter Broderick, Robert Karlsson, Trine B Haugen, Wenche Kristiansen, Jérémie Nsengimana, Kerry Fenwick, Ioannis Assiotis, ZSofia Kote-Jarai, Alison M Dunning, Kenneth Muir, Julian Peto, Rosalind Eeles, Douglas F Easton, Darshna Dudakia, Nick Orr, Nora Pashayan, D Timothy Bishop, Alison Reid, Robert A Huddart, Janet Shipley, Tom Grotmol, Fredrik Wiklund, Richard S Houlston & Clare Turnbull
Genome-wide association studies (GWAS) have tra...
Source: Nature Genetics - June 12, 2017 Category: Genetics & Stem Cells Authors: Kevin Litchfield Max Levy Giulia Orlando Chey Loveday Philip J Law Gabriele Migliorini Amy Holroyd Peter Broderick Robert Karlsson Trine B Haugen Wenche Kristiansen J é r é mie Nsengimana Kerry Fenwick Ioannis Assiotis ZSofia Kote-Jarai Alison M Dunning Tags: Letter Source Type: research
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes
Nature Genetics 49, 1126 (2017).
doi:10.1038/ng.3892
Authors: James D McKay, Rayjean J Hung, Younghun Han, Xuchen Zong, Robert Carreras-Torres, David C Christiani, Neil E Caporaso, Mattias Johansson, Xiangjun Xiao, Yafang Li, Jinyoung Byun, Alison Dunning, Karen A Pooley, David C Qian, Xuemei Ji, Geoffrey Liu, Maria N Timofeeva, Stig E Bojesen, Xifeng Wu, Loic Le Marchand, Demetrios Albanes, Heike Bickeböller, Melinda C Aldrich, William S Bush, Adonina Tardon, Gad Rennert, M Dawn Teare, John K Field, Lambertus A Kiemeney, Philip Lazarus, Aage Haugen, Stephen Lam, Matthew B Schabath, Angeline S Andrew, Hongbing...
Source: Nature Genetics - June 12, 2017 Category: Genetics & Stem Cells Authors: James D McKay Rayjean J Hung Younghun Han Xuchen Zong Robert Carreras-Torres David C Christiani Neil E Caporaso Mattias Johansson Xiangjun Xiao Yafang Li Jinyoung Byun Alison Dunning Karen A Pooley David C Qian Xuemei Ji Geoffrey Liu Maria N Timofeeva Sti Tags: Letter Source Type: research
DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats
Nature Genetics 49, 1052 (2017).
doi:10.1038/ng.3889
Authors: David Brocks, Christopher R Schmidt, Michael Daskalakis, Hyo Sik Jang, Nakul M Shah, Daofeng Li, Jing Li, Bo Zhang, Yiran Hou, Sara Laudato, Daniel B Lipka, Johanna Schott, Holger Bierhoff, Yassen Assenov, Monika Helf, Alzbeta Ressnerova, Md Saiful Islam, Anders M Lindroth, Simon Haas, Marieke Essers, Charles D Imbusch, Benedikt Brors, Ina Oehme, Olaf Witt, Michael Lübbert, Jan-Philipp Mallm, Karsten Rippe, Rainer Will, Dieter Weichenhan, Georg Stoecklin, Clarissa Gerhäuser, Christopher C Oakes, Ting Wang & Christoph Plass (Source: Nature Genetics)
Source: Nature Genetics - June 12, 2017 Category: Genetics & Stem Cells Authors: David Brocks Christopher R Schmidt Michael Daskalakis Hyo Sik Jang Nakul M Shah Daofeng Li Jing Li Bo Zhang Yiran Hou Sara Laudato Daniel B Lipka Johanna Schott Holger Bierhoff Yassen Assenov Monika Helf Alzbeta Ressnerova Md Saiful Islam Anders M Lindrot Tags: Article Source Type: research
High-quality de novo assembly of the apple genome and methylome dynamics of early fruit development
Nature Genetics 49, 1099 (2017).
doi:10.1038/ng.3886
Authors: Nicolas Daccord, Jean-Marc Celton, Gareth Linsmith, Claude Becker, Nathalie Choisne, Elio Schijlen, Henri van de Geest, Luca Bianco, Diego Micheletti, Riccardo Velasco, Erica Adele Di Pierro, Jérôme Gouzy, D Jasper G Rees, Philippe Guérif, Hélène Muranty, Charles-Eric Durel, François Laurens, Yves Lespinasse, Sylvain Gaillard, Sébastien Aubourg, Hadi Quesneville, Detlef Weigel, Eric van de Weg, Michela Troggio & Etienne Bucher (Source: Nature Genetics)
Source: Nature Genetics - June 5, 2017 Category: Genetics & Stem Cells Authors: Nicolas Daccord Jean-Marc Celton Gareth Linsmith Claude Becker Nathalie Choisne Elio Schijlen Henri van de Geest Luca Bianco Diego Micheletti Riccardo Velasco Erica Adele Di Pierro J é r ô me Gouzy D Jasper G Rees Philippe Gu é rif H é l è ne Muranty Tags: Article Source Type: research
Genomic analyses in cotton identify signatures of selection and loci associated with fiber quality and yield traits
Nature Genetics 49, 1089 (2017).
doi:10.1038/ng.3887
Authors: Lei Fang, Qiong Wang, Yan Hu, Yinhua Jia, Jiedan Chen, Bingliang Liu, Zhiyuan Zhang, Xueying Guan, Shuqi Chen, Baoliang Zhou, Gaofu Mei, Junling Sun, Zhaoe Pan, Shoupu He, Songhua Xiao, Weijun Shi, Wenfang Gong, Jianguang Liu, Jun Ma, Caiping Cai, Xiefei Zhu, Wangzhen Guo, Xiongming Du & Tianzhen Zhang (Source: Nature Genetics)
Source: Nature Genetics - June 5, 2017 Category: Genetics & Stem Cells Authors: Lei Fang Qiong Wang Yan Hu Yinhua Jia Jiedan Chen Bingliang Liu Zhiyuan Zhang Xueying Guan Shuqi Chen Baoliang Zhou Gaofu Mei Junling Sun Zhaoe Pan Shoupu He Songhua Xiao Weijun Shi Wenfang Gong Jianguang Liu Jun Ma Caiping Cai Xiefei Zhu Wangzhen Guo Xio Tags: Article Source Type: research
Genome-wide characterization of mammalian promoters with distal enhancer functions
Nature Genetics 49, 1073 (2017).
doi:10.1038/ng.3884
Authors: Lan T M Dao, Ariel O Galindo-Albarrán, Jaime A Castro-Mondragon, Charlotte Andrieu-Soler, Alejandra Medina-Rivera, Charbel Souaid, Guillaume Charbonnier, Aurélien Griffon, Laurent Vanhille, Tharshana Stephen, Jaafar Alomairi, David Martin, Magali Torres, Nicolas Fernandez, Eric Soler, Jacques van Helden, Denis Puthier & Salvatore Spicuglia (Source: Nature Genetics)
Source: Nature Genetics - June 5, 2017 Category: Genetics & Stem Cells Authors: Lan T M Dao Ariel O Galindo-Albarr á n Jaime A Castro-Mondragon Charlotte Andrieu-Soler Alejandra Medina-Rivera Charbel Souaid Guillaume Charbonnier Aur é lien Griffon Laurent Vanhille Tharshana Stephen Jaafar Alomairi David Martin Magali Torres Nicolas Tags: Article Source Type: research
Hyperactivation of HUSH complex function by Charcot – Marie – Tooth disease mutation in MORC2
Nature Genetics 49, 1035 (2017).
doi:10.1038/ng.3878
Authors: Iva A Tchasovnikarova, Richard T Timms, Christopher H Douse, Rhys C Roberts, Gordon Dougan, Robert E Kingston, Yorgo Modis & Paul J Lehner (Source: Nature Genetics)
Source: Nature Genetics - June 5, 2017 Category: Genetics & Stem Cells Authors: Iva A Tchasovnikarova Richard T Timms Christopher H Douse Rhys C Roberts Gordon Dougan Robert E Kingston Yorgo Modis Paul J Lehner Tags: Article Source Type: research
Between-region genetic divergence reflects the mode and tempo of tumor evolution
Nature Genetics 49, 1015 (2017).
doi:10.1038/ng.3891
Authors: Ruping Sun, Zheng Hu, Andrea Sottoriva, Trevor A Graham, Arbel Harpak, Zhicheng Ma, Jared M Fischer, Darryl Shibata & Christina Curtis (Source: Nature Genetics)
Source: Nature Genetics - June 5, 2017 Category: Genetics & Stem Cells Authors: Ruping Sun Zheng Hu Andrea Sottoriva Trevor A Graham Arbel Harpak Zhicheng Ma Jared M Fischer Darryl Shibata Christina Curtis Tags: Article Source Type: research
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
Nature Genetics 49, 1148 (2017).
doi:10.1038/ng.3883
Authors: Shawn Yost, Bas de Wolf, Sandra Hanks, Anna Zachariou, Chiara Marcozzi, Matthew Clarke, Richarda M de Voer, Banafsheh Etemad, Esther Uijttewaal, Emma Ramsay, Harriet Wylie, Anna Elliott, Susan Picton, Audrey Smith, Sarah Smithson, Sheila Seal, Elise Ruark, Gunnar Houge, Jonathon Pines, Geert J P L Kops & Nazneen Rahman
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are f...
Source: Nature Genetics - May 29, 2017 Category: Genetics & Stem Cells Authors: Shawn Yost Bas de Wolf Sandra Hanks Anna Zachariou Chiara Marcozzi Matthew Clarke Richarda M de Voer Banafsheh Etemad Esther Uijttewaal Emma Ramsay Harriet Wylie Anna Elliott Susan Picton Audrey Smith Sarah Smithson Sheila Seal Elise Ruark Gunnar Houge Jo Tags: Letter Source Type: research
