A genome-wide association study identifies genetic loci associated with specific lobar brain volumes

被引：22

作者：

van Der Lee, Sven J. ^{[1
]}

Knol, Maria J. ^{[1
]}

Chauhan, Ganesh ^{[2
,3
]}

Satizabal, Claudia L. ^{[4
,5
,6
]}

Smith, Albert Vernon ^{[7
,8
]}

Hofer, Edith ^{[9
,10
]}

Bis, Joshua C. ^{[11
]}

Hibar, Derrek P. ^{[12
]}

Hilal, Saima ^{[1
,13
,14
,15
]}

van den Akker, Erik B. ^{[16
,17
,18
]}

Arfanakis, Konstantinos ^{[19
,20
]}

Bernard, Manon ^{[21
]}

Yanek, Lisa R. ^{[22
]}

Amin, Najaf ^{[1
]}

Crivello, Fabrice ^{[23
]}

Cheung, Josh W. ^{[12
]}

Harris, Tamara B. ^{[24
]}

Saba, Yasaman ^{[25
]}

Lopez, Oscar L. ^{[26
]}

Li, Shuo ^{[27
]}

van Der Grond, Jeroen ^{[28
]}

Yu, Lei ^{[20
]}

Paus, Tomas ^{[29
,30
,31
]}

Roshchupkin, Gennady, V ^{[1
,15
,32
]}

Amouyel, Philippe ^{[33
]}

Jahanshad, Neda ^{[12
]}

Taylor, Kent D. ^{[34
]}

Yang, Qiong ^{[27
]}

Mathias, Rasika A. ^{[22
]}

Boehringer, Stefan ^{[18
]}

Mazoyer, Bernard ^{[23
]}

Rice, Ken ^{[35
]}

Cheng, Ching Yu ^{[36
]}

Maillard, Pauline ^{[37
]}

van Heemst, Diana ^{[38
]}

Wong, Tien Yin ^{[36
]}

Niessen, Wiro J. ^{[32
,39
]}

Beiser, Alexa S. ^{[5
,6
,27
]}

Beekman, Marian ^{[16
]}

Zhao, Wanting ^{[36
]}

Nyquist, Paul A. ^{[40
]}

Chen, Christopher ^{[13
,14
]}

Launer, Lenore J. ^{[24
]}

Psaty, Bruce M. ^{[11
,41
,42
,43
]}

Ikram, M. Kamran ^{[1
,44
]}

Vernooij, Meike W. ^{[1
,15
]}

Schmidt, Helena ^{[25
]}

Pausova, Zdenka ^{[21
,45
,46
]}

Becker, Diane M. ^{[22
]}

De Jager, Philip L. ^{[47
,48
]}

机构：

[1] Univ Med Ctr, Dept Epidemiol, Erasmus MC, NL-3015 CN Rotterdam, Netherlands

[2] Univ Bordeaux, Bordeaux Populat Hlth Res Ctr, INSERM UMR 1219, F-33000 Bordeaux, France

[3] Indian Inst Sci, Ctr Brain Res, Bangalore 560012, Karnataka, India

[4] UT Hlth San Antonio, Glenn Biggs Inst Alzheimers & Neurodegenerat Dis, San Antonio, TX 78229 USA

[5] Boston Univ, Sch Med, Boston, MA 02118 USA

[6] Framingham Heart Dis Epidemiol Study, Boston, MA 02118 USA

[7] Iceland Heart Assoc, IS-201 Kopavogur, Iceland

[8] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland

[9] Med Univ Graz, Dept Neurol, Clin Div Neurogeriatr, A-8036 Graz, Austria

[10] Med Univ Graz, Inst Med Informat Stat & Documentat, A-8036 Graz, Austria

[11] Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98101 USA

[12] Univ Southern Calif, Imaging Genet Ctr, Mark & Mary Stevens Neuroimaging & Informat Inst, Keck Sch Med, Los Angeles, CA 90292 USA

[13] Natl Univ Singapore, Dept Pharmacol, Singapore 117600, Singapore

[14] Natl Univ Hlth Syst, Memory Aging & Cognit Ctr, Singapore 119228, Singapore

[15] Univ Med Ctr, Dept Radiol & Nucl Med, Erasmus MC, NL-3015 CN Rotterdam, Netherlands

[16] Leiden Univ, Dept Biomed Data Sci, Sect Mol Epidemiol, Med Ctr, NL-2333 ZA Leiden, Netherlands

[17] Delft Univ Technol, Pattern Recognit & Bioinformat, NL-2628 XE Delft, Netherlands

[18] Leiden Univ, Dept Biomed Data Sci, Stat Genet, Med Ctr, NL-2333 ZA Leiden, Netherlands

[19] IIT, Dept Biomed Engn, Chicago, IL 60616 USA

[20] Rush Univ, Med Ctr, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA

[21] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[22] Johns Hopkins Sch Med, Dept Med, GeneSTAR Res Program, Baltimore, MD 21205 USA

[23] Bordeaux Univ, Neurofunct Imaging Grp, Neurodegenerat Dis Inst, UMR 5293,Team 5,CEA,CNRS, F-33076 Bordeaux, France

[24] NIA, Lab Epidemiol & Populat Sci, Intramural Res Program, NIH, Bethesda, MD 20892 USA

[25] Med Univ Graz, Res Unit Genet Epidemiol, Gottfried Schatz Res Ctr Cell Signaling Metab & A, A-8010 Graz, Austria

[26] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15260 USA

[27] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA

[28] Leiden Univ, Dept Radiol, Med Ctr, NL-2333 ZA Leiden, Netherlands

[29] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada

[30] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada

[31] Univ Toronto, Dept Psychiat, Toronto, ON M5S 1A1, Canada

[32] Erasmus MC Univ, Dept Med Informat, Med Ctr, NL-3015 CN Rotterdam, Netherlands

[33] Univ Lille, INSERM, CHU Lille, Inst Pasteur Lille,LabEx DISTALZ,UMR1167,RID AGE, F-59000 Lille, France

[34] Harbor UCLA Med Ctr, Dept Pediat, LABioMed, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA

[35] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

[36] Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 169857, Singapore

[37] Univ Calif Davis, Imaging Dementia & Aging IDeA Lab, Davis, CA 95817 USA

[38] Leiden Univ, Med Ctr, Dept Gerontol & Geriatr, NL-2333 ZA Leiden, Netherlands

[39] Delft Univ Technol, Fac Appl Sci, NL-2629 HZ Delft, Netherlands

[40] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[41] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA

[42] Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA

[43] Kaiser Permanente Washington Hlth Res Inst, Seattle, WA 98101 USA

[44] Univ Med Ctr, Dept Neurol, Erasmus MC, NL-3015 CN Rotterdam, Netherlands

[45] Univ Toronto, Hosp Sick Children, Dept Physiol, Toronto, ON M5G 1X8, Canada

[46] Univ Toronto, Hosp Sick Children, Dept Nutr Sci, Toronto, ON M5G 1X8, Canada

[47] Columbia Univ, Ctr Translat & Computat Neuroimmunol, Med Ctr, New York, NY 10032 USA

[48] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA

[49] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

[50] Univ Hosp Bordeaux, Dept Neurol, F-33000 Bordeaux, France

来源：

COMMUNICATIONS BIOLOGY | 2019年 / 2卷 / 1期

关键词：

METAANALYSIS; HERITABILITY; CORTEX; RISK; MORPHOLOGY; REGIONS; DISEASE; DAAM1;

D O I：

10.1038/s42003-019-0537-9

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.

引用

页数：9

共 50 条

[1] A genome-wide association study identifies genetic loci associated with specific lobar brain volumes
Sven J. van der Lee
Maria J. Knol
Ganesh Chauhan
Claudia L. Satizabal
Albert Vernon Smith
Edith Hofer
Joshua C. Bis
Derrek P. Hibar
Saima Hilal
Erik B. van den Akker
Konstantinos Arfanakis
Manon Bernard
Lisa R. Yanek
Najaf Amin
Fabrice Crivello
Josh W. Cheung
Tamara B. Harris
Yasaman Saba
Oscar L. Lopez
Shuo Li
Jeroen van der Grond
Lei Yu
Tomas Paus
Gennady V. Roshchupkin
Philippe Amouyel
Neda Jahanshad
Kent D. Taylor
Qiong Yang
Rasika A. Mathias
Stefan Boehringer
Bernard Mazoyer
Ken Rice
Ching Yu Cheng
Pauline Maillard
Diana van Heemst
Tien Yin Wong
Wiro J. Niessen
Alexa S. Beiser
Marian Beekman
Wanting Zhao
Paul A. Nyquist
Christopher Chen
Lenore J. Launer
Bruce M. Psaty
M. Kamran Ikram
Meike W. Vernooij
Helena Schmidt
Zdenka Pausova
Diane M. Becker
Philip L. De Jager
Communications Biology, 2
[2] Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency
McLaren, Christine E.
Garner, Chad P.
Constantine, Clare C.
McLachlan, Stela
Vulpe, Chris D.
Snively, Beverly M.
Gordeuk, Victor R.
Nickerson, Debbie A.
Cook, James D.
Leiendecker-Foster, Catherine
Beckman, Kenneth B.
Eckfeldt, John H.
Barcellos, Lisa F.
Murray, Joseph A.
Adams, Paul C.
Acton, Ronald T.
Killeen, Anthony A.
McLaren, Gordon D.
PLOS ONE, 2011, 6 (03):
[3] Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency
McLaren, Christine E.
Garner, Chad P.
Constantine, Clare C.
Masle, Stela
Vulpe, Christopher D.
Snively, Beverly M.
Cook, James D.
Nickerson, Deborah A.
Leiendecker-Foster, Catherine
Beckman, Kenneth B.
Eckfeldt, John H.
Gordeuk, Victor R.
Murray, Joseph A.
Adams, Paul C.
Barcellos, Lisa F.
Killeen, Anthony A.
Goddard, Katrina
Reboussin, David M.
McLaren, Gordon D.
BLOOD, 2009, 114 (22) : 1552 - 1553
[4] A genome-wide association study identifies novel genetic loci associated with pulmonary embolism
Krittanawong, C.
Narasimhan, B.
Hahn, J.
Wang, Z.
Johnson, K.
Tang, W.
Baber, U.
Amos, C.
EUROPEAN HEART JOURNAL, 2020, 41 : 2274 - 2274
[5] Genome-Wide Association Study Identifies Loci Associated with Sensitive Skin
Farage, Miranda A.
Jiang, Yunxuan
Tiesman, Jay P.
Fontanillas, Pierre
Osborne, Rosemarie
COSMETICS, 2020, 7 (02)
[6] Genome-wide association study identifies novel loci associated with osteosarcoma
Savage, Sharon A.
Mirabelio, Lisa
Wang, Zhaoming
Gastier-Foster, Julie
Gorlick, Richard
Khanna, Chand
Flanagan, Adrienne M.
Tirabosco, Roberto
Andrulis, Irene L.
Wunder, Jay
Gokgoz, Nalan
Patino-Garcia, Ana
Sierrasesumaga, Luis
Lecanda, Fernando
Kurucu, Nilgun
Ilhan, Inci Ergurhan
Sari, Neriman
Serra, Massimo
Hattinger, Claudia
Picci, Piero
Spector, Logan
Barkauskas, Donald A.
Marina, Neyssa
de Toledo, Siliva Caminada
Petrilli, Sergio
Amary, Maria Fernanda
Halai, Dina
Thomas, David
Douglass, Chester
Meltzer, Paul
Jacobs, Kevin
Chung, Charles C.
Berndt, Sonja I.
Purdue, Mark P.
Caporaso, Neil E.
Tucker, Margaret
Rothman, Nathaniel
Landi, Maria Teresa
Silverman, Debra T.
Kraft, Peter
Hunter, David J.
Malats, Nuria
Kogevinas, Manolis
Wacholder, Sholom
Troisi, Rebecca
Helman, Lee
Fraumeni, Joseph F., Jr.
Yeager, Meredith
Hoover, Robert
Chanock, Stephen J.
CANCER RESEARCH, 2013, 73 (08)
[7] Genome-wide association study identifies 30 loci associated with bipolar disorder
Stahl, Eli A.
Breen, Gerome
Forstner, Andreas J.
McQuillin, Andrew
Ripke, Stephan
Trubetskoy, Vassily
Mattheisen, Manuel
Wang, Yunpeng
Coleman, Jonathan R. I.
Gaspar, Helena A.
de Leeuw, Christiaan A.
Steinberg, Stacy
Pavlides, Jennifer M. Whitehead
Trzaskowski, Maciej
Byrne, Enda M.
Pers, Tune H.
Holmans, Peter A.
Richards, Alexander L.
Abbott, Liam
Agerbo, Esben
Akil, Huda
Albani, Diego
Alliey-Rodriguez, Ney
Als, Thomas D.
Anjorin, Adebayo
Antilla, Verneri
Awasthi, Swapnil
Badner, Judith A.
Baekvad-Hansen, Marie
Barchas, Jack D.
Bass, Nicholas
Bauer, Michael
Belliveau, Richard
Bergen, Sarah E.
Pedersen, Carsten Bocker
Boen, Erlend
Boks, Marco P.
Boocock, James
Budde, Monika
Bunney, William
Burmeister, Margit
Bybjerg-Grauholm, Jonas
Byerley, William
Casas, Miquel
Cerrato, Felecia
Cervantes, Pablo
Chambert, Kimberly
Charney, Alexander W.
Chen, Danfeng
Churchhouse, Claire
NATURE GENETICS, 2019, 51 (05) : 793 - +
[8] Genome-wide association study identifies 30 loci associated with bipolar disorder
Eli A. Stahl
Gerome Breen
Andreas J. Forstner
Andrew McQuillin
Stephan Ripke
Vassily Trubetskoy
Manuel Mattheisen
Yunpeng Wang
Jonathan R. I. Coleman
Héléna A. Gaspar
Christiaan A. de Leeuw
Stacy Steinberg
Jennifer M. Whitehead Pavlides
Maciej Trzaskowski
Enda M. Byrne
Tune H. Pers
Peter A. Holmans
Alexander L. Richards
Liam Abbott
Esben Agerbo
Huda Akil
Diego Albani
Ney Alliey-Rodriguez
Thomas D. Als
Adebayo Anjorin
Verneri Antilla
Swapnil Awasthi
Judith A. Badner
Marie Bækvad-Hansen
Jack D. Barchas
Nicholas Bass
Michael Bauer
Richard Belliveau
Sarah E. Bergen
Carsten Bøcker Pedersen
Erlend Bøen
Marco P. Boks
James Boocock
Monika Budde
William Bunney
Margit Burmeister
Jonas Bybjerg-Grauholm
William Byerley
Miquel Casas
Felecia Cerrato
Pablo Cervantes
Kimberly Chambert
Alexander W. Charney
Danfeng Chen
Claire Churchhouse
Nature Genetics, 2019, 51 : 793 - 803
[9] A genome-wide association study identifies 41 loci associated with eicosanoid levels
Rhee, Eugene P.
Surapaneni, Aditya L.
Schlosser, Pascal
Alotaibi, Mona
Yang, Yueh-ning
Coresh, Josef
Jain, Mohit
Cheng, Susan
Yu, Bing
Grams, Morgan E.
COMMUNICATIONS BIOLOGY, 2023, 6 (01)
[10] Genome-wide association study identifies eight loci associated with blood pressure
Christopher Newton-Cheh
Toby Johnson
Vesela Gateva
Martin D Tobin
Murielle Bochud
Lachlan Coin
Samer S Najjar
Jing Hua Zhao
Simon C Heath
Susana Eyheramendy
Konstantinos Papadakis
Benjamin F Voight
Laura J Scott
Feng Zhang
Martin Farrall
Toshiko Tanaka
Chris Wallace
John C Chambers
Kay-Tee Khaw
Peter Nilsson
Pim van der Harst
Silvia Polidoro
Diederick E Grobbee
N Charlotte Onland-Moret
Michiel L Bots
Louise V Wain
Katherine S Elliott
Alexander Teumer
Jian'an Luan
Gavin Lucas
Johanna Kuusisto
Paul R Burton
David Hadley
Wendy L McArdle
Morris Brown
Anna Dominiczak
Stephen J Newhouse
Nilesh J Samani
John Webster
Eleftheria Zeggini
Jacques S Beckmann
Sven Bergmann
Noha Lim
Kijoung Song
Peter Vollenweider
Gerard Waeber
Dawn M Waterworth
Xin Yuan
Leif Groop
Marju Orho-Melander
Nature Genetics, 2009, 41 : 666 - 676

← 1 2 3 4 5 →