Literature DB >> 27694991

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

Hieab H H Adams1,2, Derrek P Hibar3, Vincent Chouraki4,5,6, Jason L Stein3,7, Paul A Nyquist8, Miguel E Rentería9, Stella Trompet10, Alejandro Arias-Vasquez11,12,13,14, Sudha Seshadri4,6, Sylvane Desrivières15, Ashley H Beecham16,17, Neda Jahanshad3, Katharina Wittfeld18,19, Sven J Van der Lee1, Lucija Abramovic20, Saud Alhusaini21,22, Najaf Amin1, Micael Andersson23, Konstantinos Arfanakis24,25,26, Benjamin S Aribisala27,28,29, Nicola J Armstrong30,31, Lavinia Athanasiu32,33, Tomas Axelsson34, Alexa Beiser4,6,35, Manon Bernard36, Joshua C Bis37, Laura M E Blanken38,39, Susan H Blanton16,17, Marc M Bohlken20, Marco P Boks20, Janita Bralten11,14, Adam M Brickman40,41,42, Owen Carmichael43, M Mallar Chakravarty44,45, Ganesh Chauhan46, Qiang Chen47, Christopher R K Ching3,48, Gabriel Cuellar-Partida9, Anouk Den Braber49, Nhat Trung Doan32, Stefan Ehrlich50,51,52, Irina Filippi53,54, Tian Ge52,55,56,57, Sudheer Giddaluru58,59, Aaron L Goldman47, Rebecca F Gottesman60, Corina U Greven13,61,62, Oliver Grimm63, Michael E Griswold64, Tulio Guadalupe65,66, Johanna Hass67, Unn K Haukvik32,68, Saima Hilal69,70, Edith Hofer71,72, David Hoehn73, Avram J Holmes51,74, Martine Hoogman11,14, Deborah Janowitz19, Tianye Jia15, Dalia Kasperaviciute75,76, Sungeun Kim77,78,79, Marieke Klein11,14, Bernd Kraemer80, Phil H Lee51,55,56,57,81, Jiemin Liao82, David C M Liewald83, Lorna M Lopez83, Michelle Luciano83, Christine Macare15, Andre Marquand14,84, Mar Matarin75,85, Karen A Mather30, Manuel Mattheisen86,87,88, Bernard Mazoyer89, David R McKay90,91, Rebekah McWhirter92, Yuri Milaneschi93, Nazanin Mirza-Schreiber73, Ryan L Muetzel38,39, Susana Muñoz Maniega27,29,83, Kwangsik Nho77,78,79, Allison C Nugent94, Loes M Olde Loohuis95, Jaap Oosterlaan96, Martina Papmeyer97,98, Irene Pappa38,99, Lukas Pirpamer71, Sara Pudas23, Benno Pütz73, Kumar B Rajan100, Adaikalavan Ramasamy85,101,102, Jennifer S Richards13,14,61, Shannon L Risacher77,79, Roberto Roiz-Santiañez103,104, Nanda Rommelse12,14,61, Emma J Rose105, Natalie A Royle27,29,83,106, Tatjana Rundek107,108, Philipp G Sämann73, Claudia L Satizabal4,6, Lianne Schmaal109,110,111, Andrew J Schork112,113, Li Shen77,78,79, Jean Shin36, Elena Shumskaya11,14,84, Albert V Smith114,115, Emma Sprooten90,91,97,116, Lachlan T Strike9,117, Alexander Teumer118, Russell Thomson119, Diana Tordesillas-Gutierrez104,120, Roberto Toro121, Daniah Trabzuni85,122, Dhananjay Vaidya123, Jeroen Van der Grond124, Dennis Van der Meer125, Marjolein M J Van Donkelaar11,14, Kristel R Van Eijk126, Theo G M Van Erp127, Daan Van Rooij13,14,125, Esther Walton67, Lars T Westlye33,128, Christopher D Whelan3,22, Beverly G Windham129, Anderson M Winkler90,130, Girma Woldehawariat94, Christiane Wolf131, Thomas Wolfers11,14, Bing Xu15, Lisa R Yanek123, Jingyun Yang25,132, Alex Zijdenbos133, Marcel P Zwiers14,84, Ingrid Agartz32,68,134, Neelum T Aggarwal25,100,132, Laura Almasy135,136,137, David Ames138,139, Philippe Amouyel5, Ole A Andreassen32,33, Sampath Arepalli140, Amelia A Assareh30, Sandra Barral40, Mark E Bastin27,29,83,106, Diane M Becker123, James T Becker141, David A Bennett25,132, John Blangero135, Hans van Bokhoven11,14, Dorret I Boomsma49, Henry Brodaty30,142, Rachel M Brouwer20, Han G Brunner11,14,143, Randy L Buckner51,144, Jan K Buitelaar13,14,61, Kazima B Bulayeva145, Wiepke Cahn20, Vince D Calhoun146,147, Dara M Cannon94,148, Gianpiero L Cavalleri22, Christopher Chen69,70, Ching-Yu Cheng82,149,150, Sven Cichon151,152,153, Mark R Cookson140, Aiden Corvin105, Benedicto Crespo-Facorro103,104, Joanne E Curran135, Michael Czisch73, Anders M Dale154,155,156,157,158, Gareth E Davies159,160,56,161, Eco J C De Geus49, Philip L De Jager56,161,162, Greig I de Zubicaray163, Norman Delanty22,164, Chantal Depondt165, Anita L DeStefano6,59, Allissa Dillman140, Srdjan Djurovic58,166, Gary Donohoe167,168, Wayne C Drevets94,169, Ravi Duggirala135, Thomas D Dyer135, Susanne Erk170, Thomas Espeseth33,128, Denis A Evans100, Iryna O Fedko49, Guillén Fernández13,14, Luigi Ferrucci171, Simon E Fisher14,65, Debra A Fleischman25,132,172, Ian Ford173, Tatiana M Foroud78,174, Peter T Fox175, Clyde Francks14,65, Masaki Fukunaga176, J Raphael Gibbs85,140, David C Glahn90,91, Randy L Gollub51,52,56, Harald H H Göring135, Hans J Grabe19, Robert C Green56,177, Oliver Gruber80, Vilmundur Gudnason114,115, Sebastian Guelfi85, Narelle K Hansell9,117, John Hardy85, Catharina A Hartman125, Ryota Hashimoto178,179, Katrin Hegenscheid180, Andreas Heinz170, Stephanie Le Hellard58,59, Dena G Hernandez85,140,181, Dirk J Heslenfeld182, Beng-Choon Ho183, Pieter J Hoekstra125, Wolfgang Hoffmann18,118, Albert Hofman1, Florian Holsboer73,184, Georg Homuth185, Norbert Hosten180, Jouke-Jan Hottenga49, Hilleke E Hulshoff Pol20, Masashi Ikeda186, M Kamran Ikram1,69,70,82,149, Clifford R Jack187, Mark Jenkinson130, Robert Johnson188, Erik G Jönsson32,130, J Wouter Jukema10, René S Kahn20, Ryota Kanai189,190,191, Iwona Kloszewska192, David S Knopman193, Peter Kochunov194, John B Kwok195,196, Stephen M Lawrie97, Hervé Lemaître53,54, Xinmin Liu94,197, Dan L Longo198, W T Longstreth199,200, Oscar L Lopez201,202, Simon Lovestone203,204, Oliver Martinez205, Jean-Luc Martinot53,54, Venkata S Mattay47,60,206, Colm McDonald148, Andrew M McIntosh83,97, Katie L McMahon207, Francis J McMahon94, Patrizia Mecocci208, Ingrid Melle32,33, Andreas Meyer-Lindenberg63, Sebastian Mohnke170, Grant W Montgomery9, Derek W Morris167,168, Thomas H Mosley129, Thomas W Mühleisen148,153, Bertram Müller-Myhsok73,209,210, Michael A Nalls140, Matthias Nauck211,212, Thomas E Nichols130,213, Wiro J Niessen2,214,215, Markus M Nöthen152,216, Lars Nyberg23, Kazutaka Ohi178, Rene L Olvera175, Roel A Ophoff20,95, Massimo Pandolfo165, Tomas Paus217,218,219, Zdenka Pausova36,220,221, Brenda W J H Penninx111, G Bruce Pike222,223, Steven G Potkin127, Bruce M Psaty200,224,225,226, Simone Reppermund30,227, Marcella Rietschel63, Joshua L Roffman51, Nina Romanczuk-Seiferth170, Jerome I Rotter228, Mina Ryten85,101, Ralph L Sacco17,107,108,229, Perminder S Sachdev30,230, Andrew J Saykin77,79,174, Reinhold Schmidt71, Peter R Schofield195,196, Sigurdur Sigurdsson114, Andy Simmons231,232,233, Andrew Singleton140, Sanjay M Sisodiya75, Colin Smith234, Jordan W Smoller51,55,56,57, Hilkka Soininen235,236, Velandai Srikanth237, Vidar M Steen58,59, David J Stott238, Jessika E Sussmann97, Anbupalam Thalamuthu30, Henning Tiemeier1,39, Arthur W Toga239, Bryan J Traynor140, Juan Troncoso240, Jessica A Turner241, Christophe Tzourio242, Andre G Uitterlinden1,243, Maria C Valdés Hernández27,29,83,106, Marcel Van der Brug244, Aad Van der Lugt2, Nic J A Van der Wee245, Cornelia M Van Duijn1, Neeltje E M Van Haren20, Dennis Van T Ent49, Marie-Jose Van Tol246, Badri N Vardarajan40, Dick J Veltman111, Meike W Vernooij1,2, Henry Völzke118, Henrik Walter170, Joanna M Wardlaw27,29,83,106, Thomas H Wassink247, Michael E Weale101, Daniel R Weinberger47,248, Michael W Weiner249, Wei Wen30, Eric Westman250, Tonya White2,39, Tien Y Wong82,145,150, Clinton B Wright107,108,229, H Ronald Zielke188, Alan B Zonderman251, Ian J Deary83, Charles DeCarli205, Helena Schmidt252, Nicholas G Martin9, Anton J M De Craen253, Margaret J Wright117,207, Lenore J Launer254, Gunter Schumann15, Myriam Fornage255, Barbara Franke11,12,14, Stéphanie Debette4,47,256, Sarah E Medland9, M Arfan Ikram1,2,257, Paul M Thompson3.   

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.

Entities:  

Mesh:

Substances:

Year:  2016        PMID: 27694991      PMCID: PMC5227112          DOI: 10.1038/nn.4398

Source DB:  PubMed          Journal:  Nat Neurosci        ISSN: 1097-6256            Impact factor:   24.884


  53 in total

1.  Associations of IGF-1 gene variants and milk protein intake with IGF-I concentrations in infants at age 6 months - results from a randomized clinical trial.

Authors:  Peter Rzehak; Veit Grote; Eva Lattka; Martina Weber; Dariusz Gruszfeld; Piotr Socha; Ricardo Closa-Monasterolo; Joaquín Escribano; Marcello Giovannini; Elvira Verduci; Philippe Goyens; Françoise Martin; Jean-Paul Langhendries; Hans Demmelmair; Norman Klopp; Thomas Illig; Berthold Koletzko
Journal:  Growth Horm IGF Res       Date:  2013-06-22       Impact factor: 2.372

Review 2.  Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.

Authors:  Robert F Hevner
Journal:  Semin Perinatol       Date:  2014-11-26       Impact factor: 3.300

3.  Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Authors:  David A Koolen; Jamie M Kramer; Kornelia Neveling; Willy M Nillesen; Heather L Moore-Barton; Frances V Elmslie; Annick Toutain; Jeanne Amiel; Valérie Malan; Anne Chun-Hui Tsai; Sau Wai Cheung; Christian Gilissen; Eugene T P Verwiel; Sarah Martens; Ton Feuth; Ernie M H F Bongers; Petra de Vries; Hans Scheffer; Lisenka E L M Vissers; Arjan P M de Brouwer; Han G Brunner; Joris A Veltman; Annette Schenck; Helger G Yntema; Bert B A de Vries
Journal:  Nat Genet       Date:  2012-04-29       Impact factor: 38.330

4.  A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

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Review 5.  Cognitive reserve in ageing and Alzheimer's disease.

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7.  Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.

Authors:  Benjamin F J Verhaaren; Stéphanie Debette; Joshua C Bis; Jennifer A Smith; M Kamran Ikram; Hieab H Adams; Ashley H Beecham; Kumar B Rajan; Lorna M Lopez; Sandra Barral; Mark A van Buchem; Jeroen van der Grond; Albert V Smith; Katrin Hegenscheid; Neelum T Aggarwal; Mariza de Andrade; Elizabeth J Atkinson; Marian Beekman; Alexa S Beiser; Susan H Blanton; Eric Boerwinkle; Adam M Brickman; R Nick Bryan; Ganesh Chauhan; Christopher P L H Chen; Vincent Chouraki; Anton J M de Craen; Fabrice Crivello; Ian J Deary; Joris Deelen; Philip L De Jager; Carole Dufouil; Mitchell S V Elkind; Denis A Evans; Paul Freudenberger; Rebecca F Gottesman; Vilmundur Guðnason; Mohamad Habes; Susan R Heckbert; Gerardo Heiss; Saima Hilal; Edith Hofer; Albert Hofman; Carla A Ibrahim-Verbaas; David S Knopman; Cora E Lewis; Jiemin Liao; David C M Liewald; Michelle Luciano; Aad van der Lugt; Oliver O Martinez; Richard Mayeux; Bernard Mazoyer; Mike Nalls; Matthias Nauck; Wiro J Niessen; Ben A Oostra; Bruce M Psaty; Kenneth M Rice; Jerome I Rotter; Bettina von Sarnowski; Helena Schmidt; Pamela J Schreiner; Maaike Schuur; Stephen S Sidney; Sigurdur Sigurdsson; P Eline Slagboom; David J M Stott; John C van Swieten; Alexander Teumer; Anna Maria Töglhofer; Matthew Traylor; Stella Trompet; Stephen T Turner; Christophe Tzourio; Hae-Won Uh; André G Uitterlinden; Meike W Vernooij; Jing J Wang; Tien Y Wong; Joanna M Wardlaw; B Gwen Windham; Katharina Wittfeld; Christiane Wolf; Clinton B Wright; Qiong Yang; Wei Zhao; Alex Zijdenbos; J Wouter Jukema; Ralph L Sacco; Sharon L R Kardia; Philippe Amouyel; Thomas H Mosley; W T Longstreth; Charles C DeCarli; Cornelia M van Duijn; Reinhold Schmidt; Lenore J Launer; Hans J Grabe; Sudha S Seshadri; M Arfan Ikram; Myriam Fornage
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Authors:  G Davies; N Armstrong; J C Bis; J Bressler; V Chouraki; S Giddaluru; E Hofer; C A Ibrahim-Verbaas; M Kirin; J Lahti; S J van der Lee; S Le Hellard; T Liu; R E Marioni; C Oldmeadow; I Postmus; A V Smith; J A Smith; A Thalamuthu; R Thomson; V Vitart; J Wang; L Yu; L Zgaga; W Zhao; R Boxall; S E Harris; W D Hill; D C Liewald; M Luciano; H Adams; D Ames; N Amin; P Amouyel; A A Assareh; R Au; J T Becker; A Beiser; C Berr; L Bertram; E Boerwinkle; B M Buckley; H Campbell; J Corley; P L De Jager; C Dufouil; J G Eriksson; T Espeseth; J D Faul; I Ford; R F Gottesman; M E Griswold; V Gudnason; T B Harris; G Heiss; A Hofman; E G Holliday; J Huffman; S L R Kardia; N Kochan; D S Knopman; J B Kwok; J-C Lambert; T Lee; G Li; S-C Li; M Loitfelder; O L Lopez; A J Lundervold; A Lundqvist; K A Mather; S S Mirza; L Nyberg; B A Oostra; A Palotie; G Papenberg; A Pattie; K Petrovic; O Polasek; B M Psaty; P Redmond; S Reppermund; J I Rotter; H Schmidt; M Schuur; P W Schofield; R J Scott; V M Steen; D J Stott; J C van Swieten; K D Taylor; J Trollor; S Trompet; A G Uitterlinden; G Weinstein; E Widen; B G Windham; J W Jukema; A F Wright; M J Wright; Q Yang; H Amieva; J R Attia; D A Bennett; H Brodaty; A J M de Craen; C Hayward; M A Ikram; U Lindenberger; L-G Nilsson; D J Porteous; K Räikkönen; I Reinvang; I Rudan; P S Sachdev; R Schmidt; P R Schofield; V Srikanth; J M Starr; S T Turner; D R Weir; J F Wilson; C van Duijn; L Launer; A L Fitzpatrick; S Seshadri; T H Mosley; I J Deary
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9.  Integrative analysis of 111 reference human epigenomes.

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Journal:  Behav Genet       Date:  2015-09-11       Impact factor: 2.805

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  100 in total

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