ID

45197

Description

Principal Investigator: Gerard D. Schellenberg, PhD, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA MeSH: Alzheimer Disease,Dementia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000372 The National Institute on Aging (NIA) Alzheimer's Disease Centers (ADCs) cohort includes subjects ascertained and evaluated by the clinical and neuropathology cores of the 29 NIA-funded ADCs. Data collection is coordinated by the National Alzheimer's Coordinating Center (NACC). NACC coordinates collection of phenotype data from the 29 ADCs, cleans all data, coordinates implementation of definitions of AD cases and controls, and coordinates collection of samples. The ADC cohort consists of autopsy-confirmed and clinically-confirmed AD cases, and cognitively normal elders (CNEs) with complete neuropathology data who were older than 60 years at age of death, and living CNEs evaluated using the Uniform dataset (UDS) protocol who were documented to not have mild cognitive impairment (MCI) and were between 60 and 100 years of age at assessment. ADCs sent frozen tissue from autopsied subjects and DNA samples from some autopsied subjects and from living subjects to the National Cell Repository for Alzheimer's Disease (NCRAD). DNA was prepared by NCRAD for genotyping and sent to the genotyping site at Children's Hospital of Philadelphia. ADC samples were genotyped and analyzed in separate batches. [Reprinted from AC Naj et al. Common variants at *MS4A4/MS4A6E*, *CD2AP*, *CD33* and *EPHA1* are associated with late-onset Alzheimer's disease. *Nature Genetics* 43, 436-441 (2011). doi:10.1038/ng.801. PMID: 21460841.]

Lien

dbGaP study = phs000372

Mots-clés

Versions (2)
  1. 18/08/2022 18/08/2022 - Simon Heim
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Détendeur de droits

Gerard D. Schellenberg, PhD, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA

Téléchargé le

12 octobre 2022

DOI

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Licence

Creative Commons BY 4.0
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dbGaP phs000372 ADGC Genome Wide Association Study

Anglais

Eligibility Criteria

5 Formulaires  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Based on the data collected by NACC, the ADGC Neuropathology Core Leaders Subcommittee derived inclusion and exclusion criteria for AD and control samples. All autopsied subjects were age ≥ 60 years at death. AD cases were demented according to DSM-IV criteria or Clinical Dementia Rating (CDR) ≥ 1.
Description

Based on the data collected by NACC, the ADGC Neuropathology Core Leaders Subcommittee derived inclusion and exclusion criteria for AD and control samples. All autopsied subjects were age ≥ 60 years at death. AD cases were demented according to DSM-IV criteria or Clinical Dementia Rating (CDR) ≥ 1.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0002395
UMLS CUI [1,2]
C0277750
UMLS CUI [1,3]
C1546180
UMLS CUI [2,1]
C0002395
UMLS CUI [2,2]
C4304227
UMLS CUI [2,3]
C0220952
Neuropathologic stratification of cases followed NIA/Reagan criteria explicitly, or used a similar approach when NIA/Reagan criteria were coded as not done, missing, or unknown. Cases were intermediate or high likelihood by NIA/Reagan criteria with moderate to frequent amyloid plaques and neurofibrillary tangle (NFT) Braak stage of III-VI. Persons with Down's syndrome, non-AD tauopathies and synucleinopathies were excluded. All autopsied controls had a clinical evaluation within two years of death. Controls did not meet DSM-IV criteria for dementia, did not have a diagnosis of mild cognitive impairment (MCI), and had a CDR of 0, if performed. Controls were did not meet or were low-likelihood AD by NIA/Reagan criteria, had sparse or no amyloid plaques, and a Braak NFT stage of 0 - II.
Description

Neuropathologic stratification of cases followed NIA/Reagan criteria explicitly, or used a similar approach when NIA/Reagan criteria were coded as not done, missing, or unknown. Cases were intermediate or high likelihood by NIA/Reagan criteria with moderate to frequent amyloid plaques and neurofibrillary tangle (NFT) Braak stage of III-VI. Persons with Down's syndrome, non-AD tauopathies and synucleinopathies were excluded. All autopsied controls had a clinical evaluation within two years of death. Controls did not meet DSM-IV criteria for dementia, did not have a diagnosis of mild cognitive impairment (MCI), and had a CDR of 0, if performed. Controls were did not meet or were low-likelihood AD by NIA/Reagan criteria, had sparse or no amyloid plaques, and a Braak NFT stage of 0 - II.

Type de données

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C0871251
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0949664
UMLS CUI [2,3]
C0013080
UMLS CUI [2,4]
C5191670
UMLS CUI [3,1]
C0009932
UMLS CUI [3,2]
C4084924
UMLS CUI [3,3]
C0332152
UMLS CUI [3,4]
C1306577
UMLS CUI [3,5]
C0686906
UMLS CUI [3,6]
C1270972
UMLS CUI [3,7]
C0451074
[Reprinted from AC Naj et al. Common variants at *MS4A4/MS4A6E*, *CD2AP*, *CD33* and *EPHA1* are associated with late-onset Alzheimer's disease. *Nature Genetics* 43, 436-441 (2011). doi:10.1038/ng.801. PMID: 21460841.]
Description

Common variants at *MS4A4/MS4A6E*, *CD2AP*, *CD33* and *EPHA1* are associated with late-onset Alzheimer's disease.

Type de données

boolean

Alias
UMLS CUI [1,1]
C3263354
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Similar models

Eligibility Criteria

5 Formulaires
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
Inclusion and exclusion criteria
Based on the data collected by NACC, the ADGC Neuropathology Core Leaders Subcommittee derived inclusion and exclusion criteria for AD and control samples. All autopsied subjects were age ≥ 60 years at death. AD cases were demented according to DSM-IV criteria or Clinical Dementia Rating (CDR) ≥ 1.
Item
Based on the data collected by NACC, the ADGC Neuropathology Core Leaders Subcommittee derived inclusion and exclusion criteria for AD and control samples. All autopsied subjects were age ≥ 60 years at death. AD cases were demented according to DSM-IV criteria or Clinical Dementia Rating (CDR) ≥ 1.
boolean
C0002395 (UMLS CUI [1,1])
C0277750 (UMLS CUI [1,2])
C1546180 (UMLS CUI [1,3])
C0002395 (UMLS CUI [2,1])
C4304227 (UMLS CUI [2,2])
C0220952 (UMLS CUI [2,3])
Neuropathologic stratification of cases followed NIA/Reagan criteria explicitly, or used a similar approach when NIA/Reagan criteria were coded as not done, missing, or unknown. Cases were intermediate or high likelihood by NIA/Reagan criteria with moderate to frequent amyloid plaques and neurofibrillary tangle (NFT) Braak stage of III-VI. Persons with Down's syndrome, non-AD tauopathies and synucleinopathies were excluded. All autopsied controls had a clinical evaluation within two years of death. Controls did not meet DSM-IV criteria for dementia, did not have a diagnosis of mild cognitive impairment (MCI), and had a CDR of 0, if performed. Controls were did not meet or were low-likelihood AD by NIA/Reagan criteria, had sparse or no amyloid plaques, and a Braak NFT stage of 0 - II.
Item
Neuropathologic stratification of cases followed NIA/Reagan criteria explicitly, or used a similar approach when NIA/Reagan criteria were coded as not done, missing, or unknown. Cases were intermediate or high likelihood by NIA/Reagan criteria with moderate to frequent amyloid plaques and neurofibrillary tangle (NFT) Braak stage of III-VI. Persons with Down's syndrome, non-AD tauopathies and synucleinopathies were excluded. All autopsied controls had a clinical evaluation within two years of death. Controls did not meet DSM-IV criteria for dementia, did not have a diagnosis of mild cognitive impairment (MCI), and had a CDR of 0, if performed. Controls were did not meet or were low-likelihood AD by NIA/Reagan criteria, had sparse or no amyloid plaques, and a Braak NFT stage of 0 - II.
boolean
C1706256 (UMLS CUI [1,1])
C0871251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [2,1])
C0949664 (UMLS CUI [2,2])
C0013080 (UMLS CUI [2,3])
C5191670 (UMLS CUI [2,4])
C0009932 (UMLS CUI [3,1])
C4084924 (UMLS CUI [3,2])
C0332152 (UMLS CUI [3,3])
C1306577 (UMLS CUI [3,4])
C0686906 (UMLS CUI [3,5])
C1270972 (UMLS CUI [3,6])
C0451074 (UMLS CUI [3,7])
Common variants at *MS4A4/MS4A6E*, *CD2AP*, *CD33* and *EPHA1* are associated with late-onset Alzheimer's disease.
Item
[Reprinted from AC Naj et al. Common variants at *MS4A4/MS4A6E*, *CD2AP*, *CD33* and *EPHA1* are associated with late-onset Alzheimer's disease. *Nature Genetics* 43, 436-441 (2011). doi:10.1038/ng.801. PMID: 21460841.]
boolean
C3263354 (UMLS CUI [1,1])
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