publication . Article . 2019

Genome-wide association study identifies CBFA2T3 affecting the rate of CSF Aβ42 decline in non-demented elders

Kai-Xin Dou; Can Zhang; Chen-Chen Tan; Wei Xu; Jie-Qiong Li; Xi-Peng Cao; Lan Tan; Jin-Tai Yu; null Alzheimer�s Disease Neuroimaging Initiative (ADNI);
Open Access
  • Published: 01 Aug 2019 Journal: Aging, volume 11 (eissn: 1945-4589, Copyright policy)
  • Publisher: Impact Journals, LLC
Brain amyloid deposition is an early pathological event in Alzheimer’s disease (AD), and abnormally low levels amyloid-β42 peptide (Aβ42) in cerebrospinal fluid (CSF) can be detected in preclinical AD. To identify the genetic determinants that regulate the rate of CSF Aβ42 decline among non-demented elders, we conducted a genome-wide association study involved 321 non-demented elders from Alzheimer’s Disease Neuroimaging Initiative (ADNI) 1/GO/2 cohorts restricted to non-Hispanic Caucasians. A novel genome-wide significant association of higher annualized percent decline of CSF Aβ42 in the gene CBFA2T3 (CBFA2/RUNX1 translocation partner 3; rs13333659-T; p = 2.24...
free text keywords: Genome-wide association study, Cerebrospinal fluid, Chromosomal translocation, Locus (genetics), Pathological, Disease, Medicine, business.industry, business, Immunology, Cognitive decline, Neuroimaging, Research Paper, Alzheimer’s disease, amyloid, genetics, GWAS
Related Organizations
Funded by
NIH| Alzheimers Disease Neuroimaging Initiative
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1U01AG024904-01
  • Funder: Canadian Institutes of Health Research (CIHR)
Download fromView all 2 versions
Provider: UnpayWall
Article . 2019
Provider: Crossref
46 references, page 1 of 4

1 Jack CR Jr, Knopman DS, Jagust WJ, Petersen RC, Weiner MW, Aisen PS, Shaw LM, Vemuri P, Wiste HJ, Weigand SD, Lesnick TG, Pankratz VS, Donohue MC, Trojanowski JQ. Tracking pathophysiological processes in Alzheimer’s disease: an updated hypothetical model of dynamic biomarkers.Lancet Neurol. 2013; 12:207–16. 10.1016/S1474-4422(12)70291-0 23332364 [OpenAIRE] [PubMed] [DOI]

2 Jansen WJ, Ossenkoppele R, Knol DL, Tijms BM, Scheltens P, Verhey FR, Visser PJ, Aalten P, Aarsland D, Alcolea D, Alexander M, Almdahl IS, Arnold SE, et al, and Amyloid Biomarker Study Group. Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis.JAMA. 2015; 313:1924–38. 10.1001/jama.2015.4668 25988462 [OpenAIRE] [PubMed] [DOI]

3 Kern S, Zetterberg H, Kern J, Zettergren A, Waern M, Höglund K, Andreasson U, Wetterberg H, Börjesson-Hanson A, Blennow K, Skoog I. Prevalence of preclinical Alzheimer disease: comparison of current classification systems.Neurology. 2018; 90:e1682–91. 10.1212/WNL.0000000000005476 29653987 [OpenAIRE] [PubMed] [DOI]

4 Jack CR Jr, Wiste HJ, Weigand SD, Rocca WA, Knopman DS, Mielke MM, Lowe VJ, Senjem ML, Gunter JL, Preboske GM, Pankratz VS, Vemuri P, Petersen RC. Age-specific population frequencies of cerebral β-amyloidosis and neurodegeneration among people with normal cognitive function aged 50-89 years: a cross-sectional study.Lancet Neurol. 2014; 13:997–1005. 10.1016/S1474-4422(14)70194-2 25201514 [OpenAIRE] [PubMed] [DOI]

5 Jack CR Jr, Bennett DA, Blennow K, Carrillo MC, Dunn B, Haeberlein SB, Holtzman DM, Jagust W, Jessen F, Karlawish J, Liu E, Molinuevo JL, Montine T, et al, and Contributors. NIA-AA Research Framework: toward a biological definition of Alzheimer’s disease.Alzheimers Dement. 2018; 14:535–62. 10.1016/j.jalz.2018.02.018 29653606 [OpenAIRE] [PubMed] [DOI]

6 Jack CR Jr, Bennett DA, Blennow K, Carrillo MC, Feldman HH, Frisoni GB, Hampel H, Jagust WJ, Johnson KA, Knopman DS, Petersen RC, Scheltens P, Sperling RA, Dubois B. A/T/N: An unbiased descriptive classification scheme for Alzheimer disease biomarkers.Neurology. 2016; 87:539–47. 10.1212/WNL.0000000000002923 27371494 [OpenAIRE] [PubMed] [DOI]

7 Fletcher E, Filshtein TJ, Harvey D, Renaud A, Mungas D, DeCarli C. Staging of amyloid β, t-tau, regional atrophy r ates, and cognitive change in a nondemented cohort: results of serial mediation analyses.Alzheimers Dement (Amst). 2018; 10:382–93. 10.1016/j.dadm.2018.04.001 29984299 [OpenAIRE] [PubMed] [DOI]

8 Sperling RA, Aisen PS, Beckett LA, Bennett DA, Craft S, Fagan AM, Iwatsubo T, Jack CR Jr, Kaye J, Montine TJ, Park DC, Reiman EM, Rowe CC, et al. Toward defining the preclinical stages of Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease.Alzheimers Dement. 2011; 7:280–92. 10.1016/j.jalz.2011.03.003 21514248 [OpenAIRE] [PubMed] [DOI]

9 Dubois B, Feldman HH, Jacova C, Hampel H, Molinuevo JL, Blennow K, DeKosky ST, Gauthier S, Selkoe D, Bateman R, Cappa S, Crutch S, Engelborghs S, et al. Advancing research diagnostic criteria for Alzheimer’s disease: the IWG-2 criteria.Lancet Neurol. 2014; 13:614–29. 10.1016/S1474-4422(14)70090-0 24849862 [PubMed] [DOI]

10 Mattsson N, Insel PS, Donohue M, Jagust W, Sperling R, Aisen P, Weiner MW, and Alzheimer’s Disease Neuroimaging Initiative. Predicting Reduction of Cerebrospinal Fluid β-Amyloid 42 in Cognitively Healthy Controls.JAMA Neurol. 2015; 72:554–60. 10.1001/jamaneurol.2014.4530 25775167 [OpenAIRE] [PubMed] [DOI]

11 Beach TG, Schneider JA, Sue LI, Serrano G, Dugger BN, Monsell SE, Kukull W. Theoretical impact of Florbetapir (18F) amyloid imaging on diagnosis of alzheimer dementia and detection of preclinical cortical amyloid.J Neuropathol Exp Neurol. 2014; 73:948–53. 10.1097/NEN.0000000000000114 25192053 [OpenAIRE] [PubMed] [DOI]

12 Mattsson N, Insel PS, Donohue M, Landau S, Jagust WJ, Shaw LM, Trojanowski JQ, Zetterberg H, Blennow K, Weiner MW, and Alzheimer’s Disease Neuroimaging Initiative*. Independent information from cerebrospinal fluid amyloid-β and florbetapir imaging in Alzheimer’s disease.Brain. 2015; 138:772–83. 10.1093/brain/awu367 25541191 [OpenAIRE] [PubMed] [DOI]

13 Palmqvist S, Mattsson N, Hansson O, and Alzheimer’s Disease Neuroimaging Initiative. Cerebrospinal fluid analysis detects cerebral amyloid-β accumulation earlier than positron emission tomography.Brain. 2016; 139:1226–36. 10.1093/brain/aww0 15 26936941 [OpenAIRE] [PubMed] [DOI]

14 Wingo TS, Lah JJ, Levey AI, Cutler DJ. Autosomal recessive causes likely in early-onset Alzheimer disease.Arch Neurol. 2012; 69:59–64. 10.1001/archneurol.2011.221 21911656 [OpenAIRE] [PubMed] [DOI]

15 Ramanan VK, Shen L, Moore JH, Saykin AJ. Pathway analysis of genomic data: concepts, methods, and prospects for future development.Trends Genet. 2012; 28:323–32. 10.1016/j.tig.2012.03.004 22480918 [OpenAIRE] [PubMed] [DOI]

46 references, page 1 of 4
Powered by OpenAIRE Research Graph
Any information missing or wrong?Report an Issue