Genome-wide association study identifies two loci influencing plasma neurofilament light levels

BMC Medical Genomics

Volumn 11, Issue 1, 2018, Pages

  Li, Jie Qiong ^a   Yuan, Xiang Zhen ^a   Li, Hai Yan ^b   Cao, Xi Peng ^a   Yu, Jin Tai ^a   Tan, Lan ^a   Chen, Wei An ^c  

^a QINGDAO UNIVERSITY   (China)

^b Weihaiwei People's Hospital   (China)

^c WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

Alzheimer disease; GABRB2; Genetic factors; Genome wide association study; LUZP2; Plasma NFL

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA2; GUANINE; LEUCINE ZIPPER PROTEIN; LEUCINE ZIPPER PROTEIN 2; NEUROFILAMENT LIGHT PROTEIN; NEUROFILAMENT PROTEIN; THYMINE; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; DNA BINDING PROTEIN; LUZP2 PROTEIN, HUMAN; NEUROFILAMENT PROTEIN L;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; BRAIN ATROPHY; BRAIN REGION; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST; ENDOPHENOTYPE; FEMALE; GABRB2 GENE; GENETIC MODEL; GENETIC RISK; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HEREDITY; HIGH RISK POPULATION; HISPANIC; HUMAN; LEUCINE ZIPPER PROTEIN 2 GENE; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MIDDLE TEMPORAL GYRUS; MILD COGNITIVE IMPAIRMENT; MOLECULAR PATHOLOGY; NEUROFILAMENT LIGHT PROTEIN BLOOD LEVEL; NEUROIMAGING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; QUALITY CONTROL; RIGHT HEMISPHERE; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; CASE CONTROL STUDY; COGNITIVE DEFECT; GENE LOCUS; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; REGRESSION ANALYSIS; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ALLELES; ALZHEIMER DISEASE; BIOMARKERS; CASE-CONTROL STUDIES; COGNITIVE DYSFUNCTION; DNA-BINDING PROTEINS; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; NEUROFILAMENT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS;

EID: 85046841572     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/s12920-018-0364-8     Document Type: Article

References (25)

1. Alzheimer's Assoc. 2015 Alzheimer's disease facts and figures. Alzheimer's Dement. 2015;11(3):332-84.
2. Yu JT, Tan L, Hardy J. Apolipoprotein E in Alzheimer's disease: an update. Annu Rev Neurosci. 2014;37:79-100.
3. Mattsson N, Andreasson U, Zetterberg H, Blennow K. Alzheimer's disease neuroimaging I: Association of Plasma Neurofilament Light with Neurodegeneration in patients with Alzheimer disease. JAMA Neurol. 2017;74(5):557-66.
4. Gaiottino J, Norgren N, Dobson R, Topping J, Nissim A, Malaspina A, Bestwick JP, Monsch AU, Regeniter A, Lindberg RL, et al. Increased neurofilament light chain blood levels in neurodegenerative neurological diseases. PLoS One. 2013;8(9):e75091.
5. Wang HF, Wan Y, Hao XK, Cao L, Zhu XC, Jiang T, Tan MS, Tan L, Zhang DQ, Tan L, et al. Bridging integrator 1 (BIN1) genotypes mediate Alzheimer's disease risk by altering neuronal degeneration. J Alzheimers Dis. 2016;52(1):179-90.
6. Chen J, Yu JT, Wojta K, Wang HF, Zetterberg H, Blennow K, Yokoyama JS, Weiner MW, Kramer JH, Rosen H, et al. Genome-wide association study identifies MAPT locus influencing human plasma tau levels. Neurology. 2017;88(7):669-76.
7. Kim S, Swaminathan S, Shen L, Risacher SL, Nho K, Foroud T, Shaw LM, Trojanowski JQ, Potkin SG, Huentelman MJ, et al. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology. 2011;76(1):69-79.
8. Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron. 2013;78(2):256-68.
9. Weiner MW, Veitch DP, Aisen PS, Beckett LA, Cairns NJ, Green RC, Harvey D, Jack CR, Jagust W, Liu E, et al. The Alzheimer's disease neuroimaging initiative: a review of papers published since its inception. Alzheimers Dement. 2013;9(5):e111-94.
10. Rohrer JD, Woollacott IO, Dick KM, Brotherhood E, Gordon E, Fellows A, Toombs J, Druyeh R, Cardoso MJ, Ourselin S, et al. Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia. Neurology. 2016;87(13):1329-36.
11. Desikan RS, Segonne F, Fischl B, Quinn BT, Dickerson BC, Blacker D, Buckner RL, Dale AM, Maguire RP, Hyman BT, et al. An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest. NeuroImage. 2006;31(3):968-80.
12. Jack CR Jr, Bernstein MA, Fox NC, Thompson P, Alexander G, Harvey D, Borowski B, Britson PJ, LW J, Ward C, et al. The Alzheimer's disease neuroimaging initiative (ADNI): MRI methods. J Magn Reson Imaging. 2008;27(4):685-91.
13. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 2013;45(12):1452-8.
14. Zetterberg H, Skillback T, Mattsson N, Trojanowski JQ, Portelius E, Shaw LM, Weiner MW, Blennow K. Alzheimer's disease neuroimaging I: association of cerebrospinal fluid Neurofilament light concentration with Alzheimer disease progression. JAMA Neurol. 2016;73(1):60-7.
15. Mattsson N, Insel PS, Palmqvist S, Portelius E, Zetterberg H, Weiner M, Blennow K, Hansson O. Alzheimer's disease neuroimaging I: cerebrospinal fluid tau, neurogranin, and neurofilament light in Alzheimer's disease. EMBO Mol Med. 2016;8(10):1184-96.
16. Olsson B, Lautner R, Andreasson U, Ohrfelt A, Portelius E, Bjerke M, Holtta M, Rosen C, Olsson C, Strobel G, et al. CSF and blood biomarkers for the diagnosis of Alzheimer's disease: a systematic review and meta-analysis. Lancet Neurol. 2016;15(7):673-84.
17. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics. 2005;116(4):984-8.
18. Kjeldsen E. A novel acquired cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) with a submicroscopic deletion at 11p14.3 in an adult with hypereosinophilic syndrome. Exp Mol Pathol. 2015;99(1):50-5.
19. Zhao J, Zhao Y, Wang L, Zhang J, Karnes RJ, Kohli M, Wang G, Huang H. Alterations of androgen receptor-regulated enhancer RNAs (eRNAs) contribute to enzalutamide resistance in castration-resistant prostate cancer. Oncotarget. 2016;7(25):38551-65.
20. Wu M, Michaud EJ, Johnson DK. Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Mamm Genome. 2003;14(5):323-34.
21. Frisoni GB, Fox NC, Jack CR Jr, Scheltens P, Thompson PM. The clinical use of structural MRI in Alzheimer disease. Nat Rev Neurol. 2010;6(2):67-77.
22. Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014;164A(11):2914-21.
23. Hirose S. Mutant GABA(a) receptor subunits in genetic (idiopathic) epilepsy. Prog Brain Res. 2014;213:55-85.
24. Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S. A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. J Med Genet. 2017;54(3):202-11.
25. Rissman RA, Mobley WC. Implications for treatment: GABAA receptors in aging, Down syndrome and Alzheimer's disease. J Neurochem. 2011;117(4):613-22.