دورية أكاديمية
أعرض في EDS

Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition.

التفاصيل البيبلوغرافية
العنوان: Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition.
المؤلفون: Tan CH; Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA. chinhong.tan@ucsf.edu., Fan CC; Department of Cognitive Science, University of California, La Jolla, San Diego, CA, USA., Mormino EC; Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA., Sugrue LP; Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA., Broce IJ; Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA., Hess CP; Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA., Dillon WP; Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA., Bonham LW; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Yokoyama JS; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Karch CM; Department of Psychiatry, Washington University in St. Louis, St. Louis, MO, USA., Brewer JB; Department of Neurosciences, University of California, La Jolla, San Diego, CA, USA.; Department of Radiology, University of California, La Jolla, San Diego, CA, USA.; Shiley-Marcos Alzheimer's Disease Research Center, University of California, La Jolla, San Diego, CA, USA., Rabinovici GD; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Miller BL; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Schellenberg GD; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kauppi K; Department of Radiology, University of California, La Jolla, San Diego, CA, USA., Feldman HA; Department of Neurosciences, University of California, La Jolla, San Diego, CA, USA., Holland D; Department of Neurosciences, University of California, La Jolla, San Diego, CA, USA., McEvoy LK; Department of Radiology, University of California, La Jolla, San Diego, CA, USA., Hyman BT; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Bennett DA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA., Andreassen OA; NORMENT Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway., Dale AM; Department of Cognitive Science, University of California, La Jolla, San Diego, CA, USA.; Department of Neurosciences, University of California, La Jolla, San Diego, CA, USA.; Department of Radiology, University of California, La Jolla, San Diego, CA, USA., Desikan RS; Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA. rahul.desikan@ucsf.edu.; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA. rahul.desikan@ucsf.edu.
مؤلفون مشاركون: Alzheimer’s Disease Neuroimaging Initiative
المصدر: Acta neuropathologica [Acta Neuropathol] 2018 Jan; Vol. 135 (1), pp. 85-93. Date of Electronic Publication: 2017 Nov 24.
نوع المنشور: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Berlin : Springer Verlag
مواضيع طبية MeSH: Alzheimer Disease/*diagnosis , Alzheimer Disease/*metabolism , Amyloid/*metabolism , Brain/*metabolism , Brain/*pathology , tau Proteins/*metabolism, Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Apolipoproteins E/genetics ; Biomarkers/cerebrospinal fluid ; Brain/diagnostic imaging ; Cognitive Dysfunction/diagnosis ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/metabolism ; Cognitive Dysfunction/pathology ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Multifactorial Inheritance ; Neurofibrillary Tangles/genetics ; Neurofibrillary Tangles/metabolism ; Neurofibrillary Tangles/pathology ; Positron-Emission Tomography ; Prognosis ; Survival Analysis
مستخلص: There is an urgent need for identifying nondemented individuals at the highest risk of progressing to Alzheimer's disease (AD) dementia. Here, we evaluated whether a recently validated polygenic hazard score (PHS) can be integrated with known in vivo cerebrospinal fluid (CSF) or positron emission tomography (PET) biomarkers of amyloid, and CSF tau pathology to prospectively predict cognitive and clinical decline in 347 cognitive normal (CN; baseline age range = 59.7-90.1, 98.85% white) and 599 mild cognitively impaired (MCI; baseline age range = 54.4-91.4, 98.83% white) individuals from the Alzheimer's Disease Neuroimaging Initiative 1, GO, and 2. We further investigated the association of PHS with post-mortem amyloid load and neurofibrillary tangles in the Religious Orders Study and Memory and Aging Project (ROSMAP) cohort (N = 485, age at death range = 71.3-108.3). In CN and MCI individuals, we found that amyloid and total tau positivity systematically varies as a function of PHS. For individuals in greater than the 50th percentile PHS, the positive predictive value for amyloid approached 100%; for individuals in less than the 25th percentile PHS, the negative predictive value for total tau approached 85%. High PHS individuals with amyloid and tau pathology showed the steepest longitudinal cognitive and clinical decline, even among APOE ε4 noncarriers. Among the CN subgroup, we similarly found that PHS was strongly associated with amyloid positivity and the combination of PHS and biomarker status significantly predicted longitudinal clinical progression. In the ROSMAP cohort, higher PHS was associated with higher post-mortem amyloid load and neurofibrillary tangles, even in APOE ε4 noncarriers. Together, our results show that even after accounting for APOE ε4 effects, PHS may be useful in MCI and preclinical AD therapeutic trials to enrich for biomarker-positive individuals at highest risk for short-term clinical progression.
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معلومات مُعتمدة: P50 AG023501 United States AG NIA NIH HHS; RF1 AG015819 United States AG NIA NIH HHS; K01 AG049152 United States AG NIA NIH HHS; U01 AG032984 United States AG NIA NIH HHS; P30 AG010161 United States AG NIA NIH HHS; K01AG049152 United States NH NIH HHS; DP1 OD006849 United States OD NIH HHS; R01AG15819 United States NH NIH HHS; R01AG17917 United States NH NIH HHS; R01 AG015819 United States AG NIA NIH HHS; P50 AG005131 United States AG NIA NIH HHS; U24 AG021886 United States AG NIA NIH HHS; R01 AG017917 United States AG NIA NIH HHS; P30 AG062429 United States AG NIA NIH HHS; P20AG10161 United States NH NIH HHS; AG046374 United States NH NIH HHS; K01 AG046374 United States AG NIA NIH HHS; K01 AG051718 United States AG NIA NIH HHS; R01 AG045611 United States AG NIA NIH HHS
فهرسة مساهمة: Keywords: Alzheimer’s disease; Amyloid; Polygenic risk; Tau
المشرفين على المادة: 0 (Amyloid)
0 (Apolipoproteins E)
0 (Biomarkers)
0 (MAPT protein, human)
0 (tau Proteins)
تواريخ الأحداث: Date Created: 20171128 Date Completed: 20190624 Latest Revision: 20240802
رمز التحديث: 20240802
مُعرف محوري في PubMed: PMC5758038
DOI: 10.1007/s00401-017-1789-4
PMID: 29177679
قاعدة البيانات: MEDLINE
الوصف
تدمد:1432-0533
DOI:10.1007/s00401-017-1789-4