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

Para solicitar uno, por favor iniciar sesión.

Licencia

Creative Commons BY 4.0

Comentarios del modelo :

Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.

Comentarios de grupo de elementos para :

Comentarios del elemento para :

Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.

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

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.

  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.
pht003167
Descripción

pht003167

Family ID
Descripción

FAMID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C3669174
Unique subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2348585
Mother's subject ID
Descripción

MOTHER

Tipo de datos

string

Alias
UMLS CUI [1,1]
C3669352
Father's subject ID
Descripción

FATHER

Tipo de datos

string

Alias
UMLS CUI [1,1]
C3669177
Sex of subject
Descripción

SEX

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399
Twin ID
Descripción

TWINID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0041427
UMLS CUI [1,2]
C2349022

Similar models

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.

  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
pht003167
FAMID
Item
Family ID
string
C3669174 (UMLS CUI [1,1])
SUBJID
Item
Unique subject ID
string
C2348585 (UMLS CUI [1,1])
MOTHER
Item
Mother's subject ID
string
C3669352 (UMLS CUI [1,1])
FATHER
Item
Father's subject ID
string
C3669177 (UMLS CUI [1,1])
Item
Sex of subject
text
C0079399 (UMLS CUI [1,1])
Code List
Sex of subject
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
TWINID
Item
Twin ID
string
C0041427 (UMLS CUI [1,1])
C2349022 (UMLS CUI [1,2])

Utilice este formulario para comentarios, preguntas y sugerencias.

Los campos marcados con * son obligatorios.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial