ID

45429

Descripción

Principal Investigator: Richard Mayeux, MD, MS, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA MeSH: Alzheimer Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000496 Compared to Caucasians residing in the same community the incidence rate of Alzheimer's disease is approximately twice as high in Caribbean Hispanics. Moreover, Caribbean Hispanics represent a homogenous population with only a few founders. Replication of genetic associations in other ethnic groups provides supporting evidence that a putative gene is involved in the disease pathogenesis, and when different allelic variants within the same genes are associated with disease it can help to localize the pathogenic variant. SORL1 is an example of a candidate gene that was first identified in Hispanics and then confirmed in multiple ethnic and racial groups in a meta-analysis. For this project, we are genotyping 704 individuals in families multiply affected by Alzheimer's disease (166 families). These families were recruited in the United States, Puerto Rico and the Dominican Republic. In addition, we are genotyping 2491 individuals (960 patients with sporadic Alzheimer's disease and 1531 unrelated controls) phenotyped in a similar fashion totaling 3195 individuals. Both cohorts are followed at regular intervals of 18 to 24 months, and potential phenotypes available other than those related to Alzheimer's disease include body mass index, measured blood pressure, neurological history and examinations. More importantly, both studies are funded through 2014 and additional phenotypes could be added in successive waves. We propose a genome wide association (GWA) study of Alzheimer's disease and longitudinal changes in cognition and other age-related neurological and medical phenotypes. The goal will be to identify the chromosomal locations of genes underlying this disease and its related endophenotypes.

Link

dbGap-study=phs000496

Palabras clave

  1. 28/11/22 28/11/22 - Kristina Keller
Titular de derechos de autor

Richard Mayeux, MD, MS, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA

Subido en

28 de noviembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000496 Columbia University Study of Caribbean Hispanics and Late Onset Alzheimer's disease

Eligibility Criteria

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, consent group, and affection status of subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    3. Subject ID, sample ID, and sample use of subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    4. Subject ID, sample ID, sample source, sample source ID, and sample use of samples obtained from subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    5. Subject ID, country of birth, recruitment site, education, sex, visit, study type, affection status of participants [case or control], family history of Alzheimer disease, participant history of diabetes, head injury, heart disease, hypertension, stoke, age at onset, age at examination, age at last examination, allele value of Apolipoprotein E, height and weight, systolic and diastolic blood pressure, color traits, daily living scale, dementia rating scale, score on recognition test, Mattis Dementia Rating Scale, Boston Naming Test, abstract reasoning from WAIS, and smoking status of subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    6. Sample ID, body site where sample was collected, analyte type, histological type, and tumor status of samples obtained from subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Cases meet NINCDS/ADRDA clinical criteria for Alzheimer's disease.
Descripción

Elig.phs000496.v1.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C3274647
UMLS CUI [1,2]
C1516637
UMLS CUI [1,3]
C2828081
Cases are familial, with a family history of dementia/Alzheimer's disease and sporadic, without a family history of dementia/Alzheimer's disease.
Descripción

Elig.phs000496.v1.p1.2

Tipo de datos

boolean

Alias
UMLS CUI [2,1]
C3274647
UMLS CUI [2,2]
C0241888
UMLS CUI [2,3]
C2315857
UMLS CUI [2,4]
C1271045
UMLS CUI [3,1]
C3274647
UMLS CUI [3,2]
C0205422
UMLS CUI [3,3]
C2315857
UMLS CUI [3,4]
C1271045
UMLS CUI [3,5]
C0332288
Controls defined by the absence of dementia based on neurological exam and neuropsychological assessments.
Descripción

Elig.phs000496.v1.p1.3

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C3274648
UMLS CUI [1,2]
C5239603
UMLS CUI [1,3]
C1838634
UMLS CUI [1,4]
C0027853
UMLS CUI [1,5]
C0027902

Similar models

Eligibility Criteria

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, consent group, and affection status of subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    3. Subject ID, sample ID, and sample use of subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    4. Subject ID, sample ID, sample source, sample source ID, and sample use of samples obtained from subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    5. Subject ID, country of birth, recruitment site, education, sex, visit, study type, affection status of participants [case or control], family history of Alzheimer disease, participant history of diabetes, head injury, heart disease, hypertension, stoke, age at onset, age at examination, age at last examination, allele value of Apolipoprotein E, height and weight, systolic and diastolic blood pressure, color traits, daily living scale, dementia rating scale, score on recognition test, Mattis Dementia Rating Scale, Boston Naming Test, abstract reasoning from WAIS, and smoking status of subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
    6. Sample ID, body site where sample was collected, analyte type, histological type, and tumor status of samples obtained from subjects with or without Alzheimer disease and involved in the "Columbia University Study of Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease" project.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000496.v1.p1.1
Item
Cases meet NINCDS/ADRDA clinical criteria for Alzheimer's disease.
boolean
C3274647 (UMLS CUI [1,1])
C1516637 (UMLS CUI [1,2])
C2828081 (UMLS CUI [1,3])
Elig.phs000496.v1.p1.2
Item
Cases are familial, with a family history of dementia/Alzheimer's disease and sporadic, without a family history of dementia/Alzheimer's disease.
boolean
C3274647 (UMLS CUI [2,1])
C0241888 (UMLS CUI [2,2])
C2315857 (UMLS CUI [2,3])
C1271045 (UMLS CUI [2,4])
C3274647 (UMLS CUI [3,1])
C0205422 (UMLS CUI [3,2])
C2315857 (UMLS CUI [3,3])
C1271045 (UMLS CUI [3,4])
C0332288 (UMLS CUI [3,5])
Elig.phs000496.v1.p1.3
Item
Controls defined by the absence of dementia based on neurological exam and neuropsychological assessments.
boolean
C3274648 (UMLS CUI [1,1])
C5239603 (UMLS CUI [1,2])
C1838634 (UMLS CUI [1,3])
C0027853 (UMLS CUI [1,4])
C0027902 (UMLS CUI [1,5])

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