ID

45197

Beschreibung

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.]

Link

dbGaP study = phs000372

Stichworte

  1. 18.08.22 18.08.22 - Simon Heim
  2. 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber

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

Hochgeladen am

12. Oktober 2022

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000372 ADGC Genome Wide Association Study

Subject ID, sex, race, Hispanic or not Hispanic origin, affection status, age at onset, age at last visit, age at death, APOE genotype, and genotype platform of participants with or without Alzheimer's disease and involved in the "Alzheimer's Disease Genetics Consortium (ADGC) Genome Wide Association Study -NIA Alzheimer's Disease Centers Cohort" project.

pht002858
Beschreibung

pht002858

De-identified subject ID
Beschreibung

NACCID

Datentyp

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Gender of participant
Beschreibung

SEX

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
Self-reported race of participant
Beschreibung

RACE

Datentyp

text

Alias
UMLS CUI [1,1]
C0034510
Self-reported Hispanic ethnicity
Beschreibung

HISPANIC

Datentyp

text

Alias
UMLS CUI [1,1]
C0086409
Disease status
Beschreibung

STATUS

Datentyp

text

Alias
UMLS CUI [1,1]
C5188927
Age at disease onset
Beschreibung

AGEONSET

Datentyp

text

Maßeinheiten
  • years
Alias
UMLS CUI [1,1]
C0206132
years
Age at last visit
Beschreibung

AGELASTVISIT

Datentyp

text

Maßeinheiten
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C5204632
years
Age at death
Beschreibung

AGEDEATH

Datentyp

text

Maßeinheiten
  • years
Alias
UMLS CUI [1,1]
C1546180
years
Autopsied
Beschreibung

AUTOPSY

Datentyp

text

Alias
UMLS CUI [1,1]
C0277750
APOE genotype
Beschreibung

APOE

Datentyp

text

Alias
UMLS CUI [1,1]
C0017431
Genotyping platform [Illumina660, IlluminaOmniExpress]
Beschreibung

PLATFORM

Datentyp

string

Alias
UMLS CUI [1,1]
C5239481
Genotyping batch
Beschreibung

BATCH

Datentyp

text

Alias
UMLS CUI [1,1]
C5239481
UMLS CUI [1,2]
C1948031

Ähnliche Modelle

Subject ID, sex, race, Hispanic or not Hispanic origin, affection status, age at onset, age at last visit, age at death, APOE genotype, and genotype platform of participants with or without Alzheimer's disease and involved in the "Alzheimer's Disease Genetics Consortium (ADGC) Genome Wide Association Study -NIA Alzheimer's Disease Centers Cohort" project.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht002858
NACCID
Item
De-identified subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Female (0)
CL Item
Male (1)
Item
Self-reported race of participant
text
C0034510 (UMLS CUI [1,1])
Code List
Self-reported race of participant
CL Item
Caucasian (1)
CL Item
African American (2)
CL Item
American Indian or Alaskan Native (3)
CL Item
Native Hawaiian or Other Pacific Islander (4)
CL Item
Asian (5)
CL Item
Other (50)
CL Item
Missing/Unknown (99)
Item
Self-reported Hispanic ethnicity
text
C0086409 (UMLS CUI [1,1])
Code List
Self-reported Hispanic ethnicity
CL Item
No (0)
CL Item
Yes (1)
CL Item
Other (9)
Item
Disease status
text
C5188927 (UMLS CUI [1,1])
Code List
Disease status
CL Item
Normal control (0)
CL Item
Alzheimer disease (1)
CL Item
Mild cognitive impairment (MCI) (2)
CL Item
Other (9)
AGEONSET
Item
Age at disease onset
text
C0206132 (UMLS CUI [1,1])
AGELASTVISIT
Item
Age at last visit
text
C0001779 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
AGEDEATH
Item
Age at death
text
C1546180 (UMLS CUI [1,1])
Item
Autopsied
text
C0277750 (UMLS CUI [1,1])
Code List
Autopsied
CL Item
No (0)
CL Item
Yes (1)
Item
APOE genotype
text
C0017431 (UMLS CUI [1,1])
Code List
APOE genotype
CL Item
e2e2 (22)
CL Item
e3e2 (32)
CL Item
e3e3 (33)
CL Item
e3e4 (34)
CL Item
e4e2 (42)
CL Item
e4e (44)
PLATFORM
Item
Genotyping platform [Illumina660, IlluminaOmniExpress]
string
C5239481 (UMLS CUI [1,1])
BATCH
Item
Genotyping batch
text
C5239481 (UMLS CUI [1,1])
C1948031 (UMLS CUI [1,2])

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