Novel genetic loci underlying human intracranial volume identified through genome-wide association

Hieab H H Adams 1 Derrek P Hibar 2 Vincent Chouraki 3, 4 Jason L Stein 2 Paul A Nyquist 5 Miguel E Rentería 6 Stella Trompet 7 Alejandro Arias-Vasquez 8 Sudha Seshadri 3 Sylvane Desrivières 9 Ashley H Beecham 10 Neda Jahanshad 11 Katharina Wittfeld 12, 13 Sven J. Van Der Lee 1 Lucija Abramovic Saud Alhusaini 14, 15 Najaf Amin Micael Andersson 16 Konstantinos Arfanakis 17, 18 Benjamin S Aribisala 19, 20 Nicola J Armstrong 21, 22 Lavinia Athanasiu 23 Tomas Axelsson 24 Alex Beiser 3, 25 Bernard Bernard 26 Joshua C Bis 27 Laura Blanken 1 Susan H Blanton 10 Mar Bohlken Mar Boks Janita Bralten 28 Adam M Brickman 29 Owen Carmichael 30 M Mallar Chakravarty 31, 32 Ganesh Chauhan 33 Qiang Chen 34 Christophe Ching 2, 35 Gabriel Cuellar-Partida 6 Anouk Den Braber 36 Nhat Trung Doan 23 Stefan Ehrlich 37, 38 Irina Filippi 39, 40 Tian Ge 38, 41 Sudheer Giddaluru 42, 43 Aaron L Goldman 34 Rebecca F Gottesman 44 Corina U Greven 8, 9 Oliver Grimm 45 Michael E Griswold 46 Tulio Guadalupe 47, 48 Johanna Hass 37 Unn K Haukvik Saima Hilal 49 Edith Hofer 50 David Hoehn 51 Avram J. Holmes 38, 52 Martine Hoogman 8 Deborah Janowitz 13 Tianye Jia 9 Dalia Kasperaviciute 53, 54 Sungeun Kim 55 Marieke Klein Bernd Kraemer 56 Phil H Lee 57 Li Liao David C Liewald 19 Lorna M Lopez Michelle Luciano 58 Christine Macare 9 Mar Marquand Mar Matarin 59 Karen A Mather 60 Manuel Mattheisen 61, 62, 63 Bernard Mazoyer 64 David Mckay 65 Rebekah Mcwhirter Yuri Milaneschi 66 Nazanin Mirza-Schreiber Ryan L Muetzel 67 Susana Muñoz Maniega Kwangsik Nho 68, 69, 70 Allison C Nugent 71 Loes M Olde Loohuis Jaap Oosterlaan Martina Martin Irene Pappa Lukas Pirpamer Sara Pudas Benno Pütz 72 Kumar B Rajan 73 Adaikalavan Ramasamy 74 Jennifer S Richards Shannon L Risacher 68, 70 Robert Roiz-Santiañez 75 Nanda Rommelse 28, 76 Emma Rose 77 Natalie A Royle 19 Tatjana Rundek Philipp G Sämann 51 Claudia L Satizabal 78 Li Schmaal 66 Andrew Schork 79, 80 Li Shen 81 Jean Shin Elena Shumskaya Albert Smith Emma Sprooten 65 Lachlan T Strike 82, 83, 84 Alex Teumer 85 Russell Thomson Diana Tordesillas-Gutierrez Roberto Toro 86 Daniah Trabzuni 87, 88 Dhananjay Vaidya Jeroen Van Der Grond 89 Dennis Van Der Meer 90 Marjolein M J Van Donkelaar 28 Kristel R Van Eijk Theo G M Van Erp 91 Daan Van Rooij 92 Esther Walton 93 Lars Westlye 94 Christophe Whelan Beverly G Windham 95 Anderson M Winkler 96 Girma Woldehawariat 97 Christiane Wolf Thomas W Wolfers Bing Xu Lisa R Yanek 98 Jingyun Yang Alex Zijdenbos 99 Marcel Zwiers 28 Ingrid Agartz 100 Neelum T Aggarwal Laura Almasy 101 David A Ames 102 Philippe Amouyel 4 Andreas Andreassen Sampath Arepalli 103 Amelia A Assareh 104 Sandra Barral 105 Mark Bastin 19 Diane M Becker James T Becker 106 David A Bennett John B Blangero 107, 108 Hans Van Bokhoven 109 Dorret I Boomsma 85 Henry Brodaty 110, 111 Rachel M Brouwer 112 Han G Brunner 113 Randy L Buckner 114 Jan K Buitelaar 92 Kazima B Bulayeva 115 Wiepke Cahn 116 Vince D Calhoun 117, 118 Dara M Cannon 119 Gianpiero L Cavalleri 120 Christophe Chen 121 Ching-Yu Cheng Sven Cichon 122, 123, 62, 63 Mark Cookson 124 Aiden Corvin 125, 126 Benedicto Crespo-Facorro 75 Joanne E Curran 127 Michael Czisch 128 Anders M Dale 129 Gareth E Davies 130 Eco J C De Geus 58 Philip L De Jager 131, 132, 133 Greig I De Zubicaray 134 Norman Delanty 135, 136 Chantal Depondt 137 Anita L Destefano 138 Allissa Dillman 139 Srdjan Djurovic Gary Donohoe 119, 126 Wayne C Drevets 119 Ravi Duggirala 108 Thomas Dyer 107, 108 Susanne Erk 140 Thomas E Espeseth 94 Denis A Evans Iryna O Fedko 141 Guillén Fernández Luigi Ferrucci Simon Fisher 92 Debra A Fleischman 142 Ian Ford Tatiana M Foroud 143 Peter Fox 107, 144 Clyde Francks 48, 28 Masaki Fukunaga 145 J Raphael Gibbs 146 David C Glahn 65 Randy L Gollub 147 Harald H H Göring 148 Hans J Grabe 149 Robert Green 150 Oliver Gruber Vilmundur Gudnason 151, 152 Sebastian Guelfi 88 Narelle K Hansell 58 John Hardy 153 Catharina A Hartman 58 Ryota Hashimoto 154 Katrin Hegenscheid 13 Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld 13 Beng-Choon Ho 155 Pieter J Hoekstra 156 Wolfgang Hoffmann Albert Hofman Florian Holsboer 157 Georg Homuth 158 Norbert Hosten 13 Jouke-Jan Hottenga 85 Hilleke E Hulshoff Pol Masashi Ikeda 159 M Kamran Ikram 160 Clifford R Jack Jr Mark Jenkinson Robert Johnson 161 Erik G Jönsson 162, 163 J Wouter Jukema 164 René S Kahn Ryota Kanai 165, 166 Iwona Kloszewska 167 David S Knopman 168 Peter Kochunov 169 John B Kwok 170 Stephen M Lawrie 19 Hervé Lemaître 171 Xinmin Liu Dan L Longo 172 W T Longstreth Jr Oscar L Lopez 173 Simon Lovestone 174 Oliver Martin Jean-Luc Martin Venkata S Mattay 175 Colm Mcdonald 176 Andrew Mcintosh 177 Katie L Mcmahon 178 Francis J Mcmahon Patrizia Mecocci 179 Ingrid Melle 180, 181, 182, 100 Andreas Meyer-Lindenberg 183 Sebastian Mohnke 184 Grant W Montgomery 84, 185 Derek W Morris 186 Thomas H Mosley Thomas W Mühleisen 62, 63 Bertram Müller-Myhsok 187 Michael A Nalls 188 Matthias Nauck 189 Thomas E Nichols 190, 191 Wiro J Niessen 192 Markus M Nöthen 193 Lars Nyberg 194 Kazutaka Ohi 195 Rene L Olvera 196 Roel A Ophoff 197 Massimo Pandolfo 137 Tomas Paus 198 Zdenka Pausova 199 Brenda W J H Penninx 185 G Bruce Pike Steven G Potkin 200 Bruce M Psaty 201 Simone Reppermund 111 Marcel Rietschel 202, 203 Joshua L Roffman 204 Nina Romanczuk-Seiferth 184 Jerome I Rotter 205 Mina Ryten 206, 88 Ralph L Sacco 121 Perminder S Sachdev 207 Andrew Saykin 184, 68, 70 Reinhold Schmidt Peter R Schofield 208 Sigurdur Sigurdsson 209, 210 Andy Simmons Andrew Singleton 188 Sanjay M Sisodiya 211 Colin Smith Jordan W Smoller 212 Hilkka Soininen 213 Velandai Srikanth 214, 215 Vidar M Steen David J Stott 216 Jessika E Sussmann 19 Anbupalam Thalamuthu 217 Henning Tiemeier 218 Arthur W Toga 219 Bryan J Traynor 220 Juan Troncoso Jessica A Turner 221 Christophe Tzourio 222 Andre G Uitterlinden Maria C Valdés Hernández Marcel Van Der Brug 223 Aad Van Der Lugt 224 Nic J A Van Der Wee 225 Cornelia M Van Duijn Neeltje E M Van Haren Dennis Van ′t Ent Marie-Jose Van Tol 226 Badri N Vardarajan Dick J Veltman 66 Meike W Vernooij 227, 224 Henry Völzke 228 Henrik Walter 184, 229 Joanna M Wardlaw 19 Thomas H Wassink 230 Michael E Weale 231 Wei Weinberger Wei Weiner Wei Wen 232 Eric Westman 233 Tonya White 234 Tien Y Wong 235 Clinton B Wright 236 H Ronald Zielke Alan B Zonderman 237 Ian J Deary 19 Charles Decarli 238 Helena Schmidt 239 Nicholas G Martin Anton J M De Craen 240 Margaret J Wright 241 Lenore J Launer Gunter Schumann 242 Myriam Fornage 243, 244 Barbara Franke 92 Stéphanie Debette 222 Sarah E Medland 84 M Arfan Ikram * Paul M Thompson 11, *
* Auteur correspondant
64 GIN - IMN UMR 5293 CNRS CEA Université de Bordeaux
IMN - Institut des Maladies Neurodégénératives [Bordeaux]
139 Laboratory of Neurogenetics
National Institute on Aging
188 Laboratory of Neurogenetics
National Institute on Aging
226 LUMC
Abstract : Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.
Type de document :
Article dans une revue
Nature Neuroscience, Nature Publishing Group, 2016, 19 (12), pp.1569-1582. 〈10.1038/nn.4398〉
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https://hal.archives-ouvertes.fr/hal-01382716
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Soumis le : lundi 17 octobre 2016 - 14:28:37
Dernière modification le : mardi 26 mars 2019 - 12:44:02

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Hieab H H Adams, Derrek P Hibar, Vincent Chouraki, Jason L Stein, Paul A Nyquist, et al.. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience, Nature Publishing Group, 2016, 19 (12), pp.1569-1582. 〈10.1038/nn.4398〉. 〈hal-01382716〉

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