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

[21] Genome-wide association study identifies 12 new genetic loci associated with growth traits in pigs
Zeng, Mu
Wang, Binhu
Liu, Lei
Yang, Yalan
Tang, Zhonglin
JOURNAL OF INTEGRATIVE AGRICULTURE, 2024, 23 (01) : 217 - 227
[22] Genome-wide association study identifies 12 new genetic loci associated with growth traits in pigs
Mu Zeng
Binhu Wang
Lei Liu
Yalan Yang
Zhonglin Tang
Journal of Integrative Agriculture, 2024, 23 (01) : 217 - 227
[23] Genome-wide association study identifies genetic risk loci for adiposity in a Taiwanese population
Wong, Henry Sung-Ching
Tsai, Szu-Yi
Chu, Hou-Wei
Lin, Min-Rou
Lin, Gan-Hong
Tai, Yu-Ting
Shen, Chen-Yang
Chang, Wei-Chiao
PLOS GENETICS, 2022, 18 (01):
[24] A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids
Pei-Chieng Cha
Atsushi Takahashi
Naoya Hosono
Siew-Kee Low
Naoyuki Kamatani
Michiaki Kubo
Yusuke Nakamura
Nature Genetics, 2011, 43 : 447 - 450
[25] GENOME-WIDE ASSOCIATION STUDY IDENTIFIES TWENTY NEW LOCI ASSOCIATED WITH BIPOLAR DISORDER
Stahl, Eli
EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019, 29 : S816 - S816
[26] Genome-wide association study identifies new loci associated with corneal biomechanical properties
Khawaja, Anthony P.
Hysi, Pirro G.
Broadway, David C.
Garway-Heath, David F.
Hayat, Shabina
Luben, Robert
Tuft, Stephen J.
Wareham, Nicholas
Khaw, Kay-Tee
Hammond, Christopher J.
Foster, Paul J.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
[27] Genome-wide association study identifies novel loci associated with resistance to bovine tuberculosis
M L Bermingham
S C Bishop
J A Woolliams
R Pong-Wong
A R Allen
S H McBride
J J Ryder
D M Wright
R A Skuce
S WJ McDowell
E J Glass
Heredity, 2014, 112 : 543 - 551
[28] Genome-wide association study identifies multiple loci associated with bladder cancer risk
Figueroa, Jonine D.
Ye, Yuanqing
Siddiq, Afshan
Garcia-Closas, Montserrat
Chatterjee, Nilanjan
Prokunina-Olsson, Ludmila
Cortessis, Victoria K.
Kooperberg, Charles
Cussenot, Olivier
Benhamou, Simone
Prescott, Jennifer
Porru, Stefano
Dinney, Colin P.
Malats, Nuria
Baris, Dalsu
Purdue, Mark
Jacobs, Eric J.
Albanes, Demetrius
Wang, Zhaoming
Deng, Xiang
Chung, Charles C.
Tang, Wei
Bueno-De-Mesquita, H. Bas
Trichopoulos, Dimitrios
Ljungberg, Borje
Clavel-Chapelon, Frangoise
Weiderpass, Elisabete
Krogh, Vittorio
Dorronsoro, Miren
Travis, Ruth
Tjonneland, Anne
Brenan, Paul
Chang-Claude, Jenny
Riboli, Elio
Conti, David
Gago-Dominguez, Manuela
Stern, Mariana C.
Pike, Malcolm C.
Van den Berg, David
Yuan, Jian-Min
Hohensee, Chancellor
Rodabough, Rebecca
Cancel-Tassin, Geraldine
Roupret, Morgan
Comperat, Eva
Chen, Constance
De Vivo, Immaculata
Giovannucci, Edward
Hunter, David J.
Kraft, Peter
HUMAN MOLECULAR GENETICS, 2014, 23 (05) : 1387 - 1398
[29] Commentary: Genome-wide association study identifies 74 loci associated with educational attainment
Hernandez, Felix
Avila, Jesus
FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017, 10
[30] Genome-Wide Association Study Identifies Five New Loci Associated With Lung Function
Repapi, E.
Sayers, I.
Wain, L. V.
Obeidat, M.
Elliott, P.
Strachan, D. P.
Hall, I. P.
Tobin, M. D.
Consortium, SpiroMeta
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2010, 181

← 1 2 3 4 5 →