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Associations of autozygosity with a broad range of human phenotypes

David Clark 1 Yukinori Okada 2 Kristjan Moore Dan Mason Nicola Pirastu 3 Ilaria Gandin Hannele Mattsson Catriona Barnes Kuang Lin Jing Hua Zhao 4 Patrick Deelen Rebecca Rohde Claudia Schurmann 5 Xiuqing Guo 6 Franco Giulianini 7 Weihua Zhang 8 Carolina Medina-Gomez Robert Karlsson 9 Yanchun Bao Traci Bartz Clemens Baumbach Ginevra Biino 10 Matthew Bixley Marco Brumat Jin-Fang Chai Tanguy Corre 11 Diana Cousminer 12 Annelot Dekker David Eccles 13 Kristel van Eijk 14 Christian Fuchsberger 15 He Gao Marine Germain 16 Scott Gordon 17 Hugoline de Haan 18 Sarah Harris Edith Hofer 19 Alicia Huerta-Chagoya Catherine Igartua Iris Jansen 20 Yucheng Jia Tim Kacprowski Torgny Karlsson Marcus Kleber 21 Shengchao Alfred Li 22 Ruifang Li-Gao Anubha Mahajan 23 Koichi Matsuda Karina Meidtner 24 Weihua Meng May Montasser Peter van der Most 25 Matthias Munz Teresa Nutile 26 Teemu Palviainen Gauri Prasad Rashmi Prasad Tallapragada Divya Sri Priyanka Federica Rizzi Erika Salvi 27 Bishwa Sapkota Daniel Shriner Line Skotte Melissa Smart Albert Vernon Smith 28 Ashley van der Spek 29 Cassandra Spracklen Rona Strawbridge 30 Salman Tajuddin Stella Trompet 31 Constance Turman Niek Verweij 32 Clara Viberti Lihua Wang Helen Warren 33 Robyn Wootton Lisa Yanek 34 Jie Yao Noha Yousri Wei Zhao 35 Adebowale Adeyemo Saima Afaq Carlos Alberto Aguilar-Salinas Masato Akiyama Matthew Albert 36 Matthew Allison Maris Alver 37 Tin Aung 38 Fereidoun Azizi Amy Bentley Heiner Boeing 39 Eric Boerwinkle 40 Judith Borja 41 Gert de Borst Erwin Bottinger 42 Linda Broer 43 Harry Campbell 44 Stephen Chanock 45 Miao-Li Chee Guanjie Chen Yii-Der Chen Zhengming Chen 46 Yen-Feng Chiu Massimiliano Cocca Francis Collins Maria Pina Concas Janie Corley Giovanni Cugliari Rob van Dam Anna Damulina Maryam Daneshpour Felix Day Graciela Delgado 47 Klodian Dhana Alexander Doney 48 Marcus Dörr 49 Ayo Doumatey Nduna Dzimiri S Sunna Ebenesersdóttir Joshua Elliott 50 Paul Elliott 51 Ralf Ewert Janine Felix Krista Fischer 52 Barry Freedman 53 Giorgia Girotto 3 Anuj Goel 54 Martin Gögele Mark Goodarzi Mariaelisa Graff Einat Granot-Hershkovitz Francine Grodstein 55 Simonetta Guarrera Daniel Gudbjartsson Kamran Guity Bjarni Gunnarsson Yu Guo 56 Saskia Hagenaars 57 Christopher Haiman 58 Avner Halevy Tamara Harris 59 Mehdi Hedayati David van Heel Makoto Hirata Imo Höfer Chao Agnes Hsiung Jinyan Huang Yi-Jen Hung M Arfan Ikram 60 Anuradha Jagadeesan Pekka Jousilahti Yoichiro Kamatani 61 Masahiro Kanai Nicola Kerrison Thorsten Kessler Kay-Tee Khaw 62 Chiea Chuen Khor 63 Dominique de Kleijn 64 Woon-Puay Koh 38 Ivana Kolcic 65 Peter Kraft 66 Bernhard Krämer Zoltan Kutalik 67 Johanna Kuusisto 68 Claudia Langenberg 69 Lenore Launer 59 Deborah Lawlor I-Te Lee Wen-Jane Lee Markus Lerch Liming Li 70 Jianjun Liu 71 Marie Loh Stephanie London 72 Stephanie Loomis Yingchang Lu 73 Jian’an Luan 74 Reedik Mägi Ani Manichaikul Paolo Manunta Gísli Másson Nana Matoba Xue Mei 75 Christa Meisinger Thomas Meitinger 76 Massimo Mezzavilla Lili Milani 37 Iona Millwood Yukihide Momozawa Amy Moore 77 Pierre-Emmanuel Morange 78 Hortensia Moreno-Macías Trevor Mori Alanna Morrison Taulant Muka Yoshinori Murakami Alison Murray 79 Renée de Mutsert 80 Josyf Mychaleckyj Mike Nalls 81 Matthias Nauck 82 Matt Neville Ilja Nolte 83 Ken Ong 84 Lorena Orozco Sandosh Padmanabhan 85 Gunnar Pálsson James Pankow Cristian Pattaro Alison Pattie Ozren Polasek 86 Neil Poulter 87 Peter Pramstaller 86 Lluis Quintana-Murci 88 Katri Räikkönen 12 Sarju Ralhan Dabeeru Rao Wouter van Rheenen 14 Stephen Rich Paul Ridker 89 Cornelius Rietveld 90 Antonietta Robino Frank van Rooij Daniela Ruggiero 26 Yasaman Saba Charumathi Sabanayagam Maria Sabater-Lleal Cinzia Felicita Sala Veikko Salomaa 91 Kevin Sandow Helena Schmidt 19 Laura Scott 92 William Scott Bahareh Sedaghati-Khayat Bengt Sennblad 93 Jessica van Setten 94 Peter Sever 87 Wayne H-H Sheu Yuan Shi 58 Smeeta Shrestha Sharvari Rahul Shukla Jon Sigurdsson Timo Tonis Sikka Jai Rup Singh Blair Smith Alena Stančáková 68 Alice Stanton John Starr 44 Lilja Stefansdottir 95 Leon Straker Patrick Sulem 43 Gardar Sveinbjornsson Morris Swertz 96 Adele Taylor Kent Taylor 97 Natalie Terzikhan Yih-Chung Tham Gudmar Thorleifsson 98 Unnur Thorsteinsdóttir 98 Annika Tillander Russell Tracy Teresa Tusié-Luna 99 Ioanna Tzoulaki 87 Simona Vaccargiu Jagadish Vangipurapu Jan Veldink 14 Veronique Vitart 100 Uwe Völker 101 Eero Vuoksimaa Salma Wakil Melanie Waldenberger 102 Gurpreet Wander Ya Xing Wang Nicholas Wareham 69 Sarah Wild Chittaranjan Yajnik 103 Jian-Min Yuan 104 Lingyao Zeng Liang Zhang 105 Jie Zhou 106 Najaf Amin 107 Folkert Asselbergs 108 Stephan Bakker Diane Becker Benjamin Lehne David Bennett 109 Leonard van den Berg 14 Sonja Berndt 110 Dwaipayan Bharadwaj Lawrence Bielak Murielle Bochud 111 Mike Boehnke Claude Bouchard 112 Jonathan Bradfield Jennifer Brody 113 Archie Campbell 44 Shai Carmi Mark Caulfield David Cesarini John Chambers 114 Giriraj Ratan Chandak Ching-Yu Cheng 115 Marina Ciullo 26 Marilyn Cornelis Daniele Cusi 27 George Davey Smith 116 Ian Deary 79 Rajkumar Dorajoo 117 Cornelia van Duijn 118 David Ellinghaus 119 Jeanette Erdmann 120 Johan Eriksson 12 Evangelos Evangelou 121 Michele Evans Jessica Faul 122 Bjarke Feenstra Mary Feitosa 123 Sylvain Foisy Andre Franke 124 Yechiel Friedlander Paolo Gasparini 125 Christian Gieger 76 Clicerio Gonzalez Philippe Goyette Struan Grant Lyn Griffiths Leif Groop 126 Vilmundur Gudnason 127 Ulf Gyllensten 86 Hakon Hakonarson 128 Anders Hamsten 129 Pim van der Harst 83 Chew-Kiat Heng Andrew Hicks 130 Hagit Hochner Heikki Huikuri 131 Steven Hunt 132 Vincent Jaddoe 133 Philip de Jager 134 Magnus Johannesson Åsa Johansson 86 Jost Jonas 135 J Wouter Jukema 136 Juhani Junttila Jaakko Kaprio 137 Sharon Kardia 138 Fredrik Karpe 139 Meena Kumari 140 Markku Laakso 141 Sander van der Laan Jari Lahti 142 Matthias Laudes Rodney Lea Wolfgang Lieb 143 Thomas Lumley 144 Nicholas Martin 145 Winfried März 146 Giuseppe Matullo 147 Mark Mccarthy 148 Sarah Medland 149 Tony Merriman Andres Metspalu 37 Brian Meyer Karen Mohlke 150 Grant Montgomery 107 Dennis Mook-Kanamori Patricia Munroe Kari North 151 Dale Nyholt 12 Jeffery O’connell Carole Ober 152 Albertine Oldehinkel Walter Palmas Colin Palmer 48 Gerard Pasterkamp 153 Etienne Patin 88 Craig Pennell Louis Pérusse 154 Patricia Peyser Mario Pirastu 155 Tinca Polderman David Porteous 44 Danielle Posthuma 156 Bruce Psaty 113 John Rioux Fernando Rivadeneira 157 Charles Rotimi 158 Jerome Rotter 159 Igor Rudan 86 Hester den Ruijter Dharambir Sanghera Naveed Sattar 160 Reinhold Schmidt 79 Matthias Schulze 161 Heribert Schunkert 120 Robert Scott 162 Alan Shuldiner 163 Xueling Sim 164 Neil Small Jennifer Smith Nona Sotoodehnia E-Shyong Tai Alexander Teumer 43 Nicholas Timpson 165 Daniela Toniolo 166 David-Alexandre Trégouët 167 Tiinamaija Tuomi Peter Vollenweider 168 Carol Wang David Weir 169 John Whitfield 149 Cisca Wijmenga 170 Tien-Yin Wong 171 John Wright 172 Jingyun Yang 79 Lei Yu 173 Babette Zemel Alan Zonderman Markus Perola 174 Patrik Magnusson 175 André Uitterlinden 43 Jaspal Kooner Daniel Chasman 89 Ruth Loos 162 Nora Franceschini 151 Lude Franke 176 Chris Haley Caroline Hayward 86 Robin Walters 177 John Perry 178 Tōnu Esko Agnar Helgason Kari Stefansson 98 Peter Joshi Michiaki Kubo James Wilson 179
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Génomique cardiovasculaire
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Abstract : In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F ROH) for >1.4 million individuals, we show that F ROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: F ROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of F ROH are confirmed within full-sibling pairs, where the variation in F ROH is independent of all environmental confounding.
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David Clark, Yukinori Okada, Kristjan Moore, Dan Mason, Nicola Pirastu, et al.. Associations of autozygosity with a broad range of human phenotypes. Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-12283-6⟩. ⟨hal-02651737⟩

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