Genome-Wide Association Analysis of Neonatal White Matter Microstructure.
Axons
/ physiology
Chromosomes, Human, Pair 20
/ genetics
Diffusion Magnetic Resonance Imaging
Diffusion Tensor Imaging
Female
Genome-Wide Association Study
Humans
Image Processing, Computer-Assisted
Infant
Infant, Newborn
Male
Myelin Sheath
/ physiology
Nerve Fibers
/ physiology
Phenotype
Polymorphism, Single Nucleotide
Proteasome Endopeptidase Complex
/ genetics
Regression Analysis
White Matter
/ ultrastructure
diffusion tensor imaging
genome-wide association study
infant
magnetic resonance imaging
Journal
Cerebral cortex (New York, N.Y. : 1991)
ISSN: 1460-2199
Titre abrégé: Cereb Cortex
Pays: United States
ID NLM: 9110718
Informations de publication
Date de publication:
05 01 2021
05 01 2021
Historique:
received:
15
08
2019
revised:
15
07
2020
accepted:
16
08
2020
pubmed:
4
10
2020
medline:
8
1
2022
entrez:
3
10
2020
Statut:
ppublish
Résumé
A better understanding of genetic influences on early white matter development could significantly advance our understanding of neurological and psychiatric conditions characterized by altered integrity of axonal pathways. We conducted a genome-wide association study (GWAS) of diffusion tensor imaging (DTI) phenotypes in 471 neonates. We used a hierarchical functional principal regression model (HFPRM) to perform joint analysis of 44 fiber bundles. HFPRM revealed a latent measure of white matter microstructure that explained approximately 50% of variation in our tractography-based measures and accounted for a large proportion of heritable variation in each individual bundle. An intronic SNP in PSMF1 on chromosome 20 exceeded the conventional GWAS threshold of 5 x 10-8 (p = 4.61 x 10-8). Additional loci nearing genome-wide significance were located near genes with known roles in axon growth and guidance, fasciculation, and myelination.
Identifiants
pubmed: 33009551
pii: 5917453
doi: 10.1093/cercor/bhaa266
pmc: PMC7786356
doi:
Substances chimiques
PSMF1 protein, human
0
Proteasome Endopeptidase Complex
EC 3.4.25.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
933-948Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103573
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH086633
Pays : United States
Informations de copyright
© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Références
Hum Brain Mapp. 2008 Jan;29(1):14-27
pubmed: 17318834
Nature. 2017 Oct 11;550(7675):204-213
pubmed: 29022597
Genome Res. 2012 Sep;22(9):1790-7
pubmed: 22955989
J Neurochem. 2004 Oct;91(1):210-9
pubmed: 15379901
Nature. 2008 Sep 11;455(7210):237-41
pubmed: 18668038
Pediatr Radiol. 2013 Jan;43(1):28-54
pubmed: 23288476
Neuroimage. 2018 Nov 15;182:207-218
pubmed: 29305910
Hum Brain Mapp. 2010 Oct;31(10):1609-25
pubmed: 20162594
PLoS Comput Biol. 2015 Apr 17;11(4):e1004219
pubmed: 25885710
J Aging Res. 2016;2016:5081021
pubmed: 27597899
Nature. 2012 Nov 1;491(7422):56-65
pubmed: 23128226
Dev Med Child Neurol. 2011 Apr;53(4):361-7
pubmed: 21121904
Mol Psychiatry. 2012 Oct;17(10):955
pubmed: 22996402
J Neurosci. 2010 Jun 2;30(22):7569-74
pubmed: 20519531
Prog Brain Res. 1996;108:117-34
pubmed: 8979798
Nature. 2011 Oct 26;478(7370):483-9
pubmed: 22031440
J Am Acad Child Adolesc Psychiatry. 2016 Apr;55(4):269-79
pubmed: 27015717
Hum Brain Mapp. 2011 Nov;32(11):1788-801
pubmed: 20886580
Nature. 2010 Oct 28;467(7319):1061-73
pubmed: 20981092
Soc Cogn Affect Neurosci. 2016 May;11(5):746-57
pubmed: 26714573
Neuroscience. 2014 Sep 12;276:48-71
pubmed: 24378955
J Neurochem. 1999 Dec;73(6):2415-23
pubmed: 10582601
Proc Natl Acad Sci U S A. 1993 Aug 15;90(16):7436-40
pubmed: 8395048
Hum Mutat. 2007 Jul;28(7):674-82
pubmed: 17480035
J Neurosci. 1984 Jan;4(1):25-42
pubmed: 6693940
Cell Mol Life Sci. 2012 Dec;69(24):4135-47
pubmed: 22669261
Annu Rev Psychol. 2015 Jan 3;66:853-76
pubmed: 25559117
J Med Genet. 2009 Apr;46(4):223-32
pubmed: 18550696
Curr Opin Neurobiol. 2012 Oct;22(5):837-43
pubmed: 22398400
Neurosci Biobehav Rev. 2016 Sep;68:838-847
pubmed: 27450582
Neuroimage. 2010 Nov 15;53(3):1085-92
pubmed: 20298793
Genome Biol. 2015 Jan 05;16:22
pubmed: 25723102
Nature. 1998 Mar 12;392(6672):182-6
pubmed: 9515963
J Comp Neurol. 1983 Oct 1;219(4):431-47
pubmed: 6196382
J Neurosci. 2001 Feb 15;21(4):1302-12
pubmed: 11160401
Nucleic Acids Res. 2012 Jan;40(Database issue):D930-4
pubmed: 22064851
Cortex. 2015 Jan;62:158-81
pubmed: 25433958
Int J Biochem Cell Biol. 2009 May;41(5):990-3
pubmed: 18723111
PLoS One. 2014 Dec 16;9(12):e113181
pubmed: 25514436
Neuropsychol Rev. 2010 Dec;20(4):327-48
pubmed: 21042938
Neuroimage. 2009 Mar;45(1 Suppl):S133-42
pubmed: 19059345
Genet Epidemiol. 2013 Jan;37(1):25-37
pubmed: 23074066
Nature. 2014 Jan 16;505(7483):361-6
pubmed: 24352232
Int J Biochem Cell Biol. 2007;39(2):292-7
pubmed: 17095284
Neuroimage Clin. 2015 Aug 01;9:50-7
pubmed: 26413471
Am J Hum Genet. 2010 May 14;86(5):707-18
pubmed: 20398883
Nat Genet. 2000 May;25(1):25-9
pubmed: 10802651
Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):148-153
pubmed: 27994134
J Neurochem. 2016 May;137(3):394-408
pubmed: 26851544
Mol Psychiatry. 2013 Nov;18(11):1178-84
pubmed: 23938935
PLoS Biol. 2008 Jul 1;6(7):e159
pubmed: 18597554
J Neurosci. 2015 Jun 3;35(22):8672-82
pubmed: 26041932
J Neurosci. 2005 Jun 22;25(25):5988-97
pubmed: 15976088
Front Neuroinform. 2014 Jan 30;8:4
pubmed: 24523693
Sci Rep. 2016 Aug 11;6:31482
pubmed: 27511108
Nature. 2011 Mar 24;471(7339):480-5
pubmed: 21179089
Cereb Cortex. 2017 Dec 1;27(12):5616-5625
pubmed: 27797836
Neuroimage. 2014 Jul 15;95:136-50
pubmed: 24657781
Proc SPIE Int Soc Opt Eng. 2013 Mar 13;8669:
pubmed: 24386543
J Neurosci. 2015 Sep 16;35(37):12625-34
pubmed: 26377454
Philos Trans A Math Phys Eng Sci. 2016 Apr 13;374(2065):20150202
pubmed: 26953178
Nature. 2010 Jul 15;466(7304):368-72
pubmed: 20531469
Cereb Cortex. 2016 Jan;26(1):89-95
pubmed: 25122465
Neuroimage. 2015 May 1;111:300-11
pubmed: 25747917
J Anat. 2010 Oct;217(4):400-17
pubmed: 20609031
AJNR Am J Neuroradiol. 2010 Feb;31(2):295-9
pubmed: 19833797
J Neurosci. 2014 Sep 3;34(36):12104-20
pubmed: 25186755
Semin Fetal Neonatal Med. 2006 Dec;11(6):415-22
pubmed: 16962836
J Neurosci. 2008 Nov 19;28(47):12176-82
pubmed: 19020011
J Neurosci. 2007 Feb 7;27(6):1255-60
pubmed: 17287499
Biochim Biophys Acta. 2011 Feb;1809(2):128-40
pubmed: 20674814
J Comput Assist Tomogr. 2006 Sep-Oct;30(5):695-715
pubmed: 16954916
Curr Opin Neurobiol. 1998 Feb;8(1):80-6
pubmed: 9568395
Psychiatry Res Neuroimaging. 2016 Jul 30;253:43-53
pubmed: 27254086
J Comp Neurol. 1990 Jul 15;297(3):441-70
pubmed: 2398142
Hum Brain Mapp. 2017 Apr;38(4):2026-2036
pubmed: 28032374
Front Neuroinform. 2014 Jan 09;7:51
pubmed: 24409141
Cereb Cortex. 1995 Nov-Dec;5(6):518-40
pubmed: 8590825
Neuroimage. 2015 May 1;111:123-35
pubmed: 25700954
Neuron. 2013 Mar 20;77(6):1083-96
pubmed: 23522044
Brain. 2010 Jan;133(Pt 1):23-32
pubmed: 19843651
Neuroimage. 2011 Feb 1;54(3):2308-17
pubmed: 20950689
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Cold Spring Harb Perspect Biol. 2010 Mar;2(3):a001784
pubmed: 20300212
Nat Genet. 2014 May;46(5):430-7
pubmed: 24728292
Acta Anat (Basel). 1983;116(1):69-73
pubmed: 6858605
Mech Dev. 2001 Nov;109(1):37-49
pubmed: 11677051
Brain Struct Funct. 2017 Dec;222(9):4023-4033
pubmed: 28589258
Inf Process Med Imaging. 2017 Jun;10265:478-489
pubmed: 28947871
J Neuropathol Exp Neurol. 1988 May;47(3):217-34
pubmed: 3367155
Curr Opin Neurobiol. 2015 Feb;30:73-8
pubmed: 25290881
Hum Brain Mapp. 2010 Aug;31(8):1174-82
pubmed: 20063301
Nat Genet. 2006 Aug;38(8):904-9
pubmed: 16862161
Neuroimage. 2011 Jun 1;56(3):1412-25
pubmed: 21335092
J Neurosci. 2013 Jul 24;33(30):12490-509
pubmed: 23884953
Neuroimage. 2006 Oct 15;33(1):27-38
pubmed: 16905335
Elife. 2017 Jun 13;6:
pubmed: 28608780
Science. 2004 Feb 13;303(5660):1026-30
pubmed: 14716021
Prog Neuropsychopharmacol Biol Psychiatry. 2013 Aug 1;45:100-6
pubmed: 23648972
Am J Hum Genet. 2008 May;82(5):1064-74
pubmed: 18423522
Cereb Cortex. 1995 Jul-Aug;5(4):323-37
pubmed: 7580125
Nucleic Acids Res. 2017 Jan 4;45(D1):D331-D338
pubmed: 27899567
Transl Psychiatry. 2017 Aug 1;7(8):e1188
pubmed: 28763065
PLoS One. 2012;7(4):e32316
pubmed: 22514599
Neuroreport. 2001 Jun 13;12(8):1677-81
pubmed: 11409738
Nature. 2014 May 29;509(7502):575-81
pubmed: 24870542
Stat Sin. 2012 Oct 1;22(4):1539-1562
pubmed: 23105913
Cell. 2003 May 30;113(5):657-70
pubmed: 12787506
PLoS Genet. 2009 Feb;5(2):e1000373
pubmed: 19197363
Neuroimage. 2013 Nov 1;81:441-454
pubmed: 23602925
Nature. 2011 Oct 26;478(7370):519-23
pubmed: 22031444
Transcription. 2017 Jan;8(1):40-47
pubmed: 27792455
J Neurosci. 1990 Jul;10(7):2156-75
pubmed: 2376772
J Biol Chem. 2002 Jul 26;277(30):27227-31
pubmed: 12032138
PLoS Biol. 2018 Feb 5;16(2):e2004559
pubmed: 29401206
Nat Commun. 2018 Mar 2;9(1):899
pubmed: 29500351