Evidence of polygenic regulation of the physiological presence of neurofilament light chain in human serum.
GWAS
genetics
neurofilament light chain
neuropathology
serum biomarkers
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2023
2023
Historique:
received:
16
01
2023
accepted:
20
02
2023
entrez:
27
3
2023
pubmed:
28
3
2023
medline:
28
3
2023
Statut:
epublish
Résumé
The measurement of neurofilament light chain (NfL) in blood is a promising biomarker of neurological injury and disease. We investigated the genetic factors that underlie serum NfL levels (sNfL) of individuals without neurological conditions. We performed a discovery genome-wide association study (GWAS) of sNfL in participants of the German BiDirect Study ( Our discovery GWAS identified 12 genomic loci at the suggestive threshold (( Our findings suggest that polygenic regulation of neuronal processes, inflammation, metabolism and clearance modulate the variability of NfL in the circulation. These could aid in the interpretation of sNfL measurements in a personalized manner.
Identifiants
pubmed: 36970523
doi: 10.3389/fneur.2023.1145737
pmc: PMC10030935
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1145737Informations de copyright
Copyright © 2023 Herrera-Rivero, Hofer, Maceski, Leppert, Benkert, Kuhle, Schmidt, Khalil, Wiendl, Stoll and Berger.
Déclaration de conflit d'intérêts
DL is Chief Medical Officer at GeNeuro. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Sci Rep. 2017 Sep 8;7(1):11008
pubmed: 28887542
Nat Genet. 2016 Oct;48(10):1284-1287
pubmed: 27571263
Gigascience. 2015 Feb 25;4:7
pubmed: 25722852
Neuroepidemiology. 1994;13(6):308-13
pubmed: 7800110
Nat Commun. 2014 Sep 04;5:4807
pubmed: 25185702
PLoS Genet. 2009 Jun;5(6):e1000529
pubmed: 19543373
Front Aging Neurosci. 2014 Sep 25;6:263
pubmed: 25309438
Nat Commun. 2017 Nov 28;8(1):1826
pubmed: 29184056
Mol Brain. 2015 Sep 22;8(1):55
pubmed: 26391783
Brain. 2023 Feb 13;146(2):421-437
pubmed: 36083979
Genes Cells. 2008 Nov;13(11):1171-83
pubmed: 19090811
Genome Biol. 2010;11(5):R53
pubmed: 20482850
Neurosci Res. 2014 Dec;89:1-9
pubmed: 25218562
Nat Methods. 2013 Jan;10(1):5-6
pubmed: 23269371
Stroke. 2019 Jul;50(7):1669-1675
pubmed: 31138085
Genes Chromosomes Cancer. 2000 Feb;27(2):169-76
pubmed: 10612805
BMC Psychiatry. 2014 Jun 13;14:174
pubmed: 24924233
iScience. 2019 Sep 27;19:1114-1132
pubmed: 31536960
Nat Genet. 2015 Oct;47(10):1114-20
pubmed: 26323059
Ann Clin Transl Neurol. 2020 Dec;7(12):2508-2523
pubmed: 33146954
EMBO J. 2011 Mar 2;30(5):873-81
pubmed: 21183954
Nat Commun. 2020 Feb 10;11(1):812
pubmed: 32041951
Sci Rep. 2020 Nov 23;10(1):20350
pubmed: 33230211
Cold Spring Harb Perspect Biol. 2017 Apr 3;9(4):
pubmed: 28373358
Nat Genet. 2015 Mar;47(3):291-5
pubmed: 25642630
Cell Rep. 2017 Mar 14;18(11):2687-2701
pubmed: 28297672
Neurology. 2018 Aug 28;91(9):e832-e842
pubmed: 30068634
Genomics. 2003 Feb;81(2):126-37
pubmed: 12620390
Biochim Biophys Acta Gene Regul Mech. 2019 Mar;1862(3):412-428
pubmed: 30529455
PLoS Biol. 2013 Jul;11(7):e1001611
pubmed: 23874158
Am J Hum Genet. 2011 Jan 7;88(1):76-82
pubmed: 21167468
Genome Res. 2003 Nov;13(11):2498-504
pubmed: 14597658
Neuroscience. 2012 Dec 6;225:1-8
pubmed: 22885232
Biomed Res Int. 2019 Apr 28;2019:7276389
pubmed: 31183373
Nat Rev Neurol. 2018 Oct;14(10):577-589
pubmed: 30171200
Front Cell Dev Biol. 2019 May 31;7:82
pubmed: 31231645
Nat Commun. 2019 Sep 3;10(1):3967
pubmed: 31481669
J Biol Chem. 2003 Oct 10;278(41):40113-20
pubmed: 12888564
Ann Clin Transl Neurol. 2020 Jan;7(1):139-143
pubmed: 31893563