ID

45457

Beschrijving

Principal Investigator: Dana Crawford, PhD, Vanderbilt University, Nashville, TN, USA MeSH: Neoplasms,Breast Neoplasms,Colorectal Neoplasms,Endometrial Neoplasms,Lung Neoplasms,Lymphoma, Non-Hodgkin,Ovarian Neoplasms,Melanoma,Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000559 As part of Population Architecture using Genomics and Epidemiology PAGE study (Phase I), the Epidemiologic Architecture using Genomics and Epidemiology (EAGLE I) project accessed both epidemiologic- and clinic-based collections. The epidemiologic-based collection of EAGLE I included the National Health and Nutritional Examination Surveys (NHANES), ascertained between 1991-1994 (NHANES III), 1999-2002, and 2007-2008. NHANES is a population-based cross-sectional survey now conducted every year in the United States to assess the health status of Americans at the time of ascertainment and to assess trends over the years of survey. Genetic NHANES consists of 19,613 DNA samples linked to thousands of variables including demographics, health and lifestyle variables, physical examination variables, laboratory variables, and exposures. NHANES is diverse with almost one-half of the samples (46.4%) coming from self-reported Mexican Americans and non-Hispanic blacks. In contrast to NHANES, BioVU is a clinic-based collection of 150,000 DNA samples from Vanderbilt University Medical Center linked to de-identified electronic medical records (EMRs). Approximately 12% of BioVU's overall DNA sample collection is from African American, Hispanic, and Asian patients. The overall goals of PAGE I and EAGLE I were broad and several-fold:- Replicate genome-wide association study (GWAS)- identified variants in European Americans; - Identify population-specific and trans-population genotype-phenotype associations; - Identify genetic and environmental modifiers of these associations. NHANES is an excellent resource for the study of quantitative traits associated with common human diseases. However, given that the age range of NHANES spans childhood to late adulthood and not all diseases are surveyed, NHANES is less useful for the study of adult-onset diseases such as major cancers. Therefore, under American Recovery and Reinvestment Act (ARRA) funding, EAGLE as part of PAGE I defined eight major cancers sites for genetic analysis in BioVU, Vanderbilt's biorepository linked to de-identified EMRs. The eight major cancers defined for this study included melanoma, breast, ovarian, prostate, colorectal, lung, endometrial, and Non-Hodgkin's lymphoma (NHL). Cancer cases were defined using a combination of ICD-9 codes and tumor registry entries. Controls include BioVU participants without cancer and encompassing the age and gender distributions of cancer cases. Targeted genotyping of GWAS-identified variants for these diseases (124 SNPs) and ancestry informative markers (128 AIMs) was performed by the Center for Human Genetics Research Vanderbilt DNA Resources Core. After quality control, a total of 116 cancer-associated SNPs and 122 AIMs were available for downstream analyses.

Link

dbGap-study=phs000559

Trefwoorden

  1. 27-10-22 27-10-22 - Simon Heim
  2. 12-12-22 12-12-22 - Kristina Keller
Houder van rechten

Dana Crawford, PhD, Vanderbilt University, Nashville, TN, USA

Geüploaded op

12 december 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000559 PAGE: Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project

Sample ID, body site where sample was collected [blood], analyte type, tumor status, and histological type of sample obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID and consent group of participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    3. Subject ID, sample ID and sample use variable obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    4. Subject ID, age, sex, race, ethnicity, smoking status, smoking ICD9 code, CEU population, follow-up time of cancer participant visit, cancer status, cancer diagnosis, cancer site, CEU population, total population, smoking status, year of diagnosis, cancer type, cancer stage, breast cancer, colorectal cancer, lung cancer, melanoma, non-Hodgkin's lymphoma, ovarian cancer, prostate cancer, endometrial cancer, multiply cancer and follow-up time of cancer participant's visit of subjects with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    5. Sample ID, body site where sample was collected [blood], analyte type, tumor status, and histological type of sample obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
pht003617
Beschrijving

pht003617

De-identified sample ID
Beschrijving

SAMPID

Datatype

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected [Blood]
Beschrijving

BODY_SITE

Datatype

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type [DNA]
Beschrijving

ANALTYE_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Beschrijving

IS_TUMOR

Datatype

string

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample [Blood]
Beschrijving

HISTOLOGICAL_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C2347029

Similar models

Sample ID, body site where sample was collected [blood], analyte type, tumor status, and histological type of sample obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID and consent group of participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    3. Subject ID, sample ID and sample use variable obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    4. Subject ID, age, sex, race, ethnicity, smoking status, smoking ICD9 code, CEU population, follow-up time of cancer participant visit, cancer status, cancer diagnosis, cancer site, CEU population, total population, smoking status, year of diagnosis, cancer type, cancer stage, breast cancer, colorectal cancer, lung cancer, melanoma, non-Hodgkin's lymphoma, ovarian cancer, prostate cancer, endometrial cancer, multiply cancer and follow-up time of cancer participant's visit of subjects with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
    5. Sample ID, body site where sample was collected [blood], analyte type, tumor status, and histological type of sample obtained from participants with or without cancer and involved in the "Population Architecture Using Genomics and Epidemiology (PAGE): Epidemiologic Architecture for Genes Linked to Environment (EAGLE) - BioVU Cancer Project" project.
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht003617
SAMPID
Item
De-identified sample ID
text
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected [Blood]
string
C0449705 (UMLS CUI [1,1])
ANALTYE_TYPE
Item
Analyte type [DNA]
string
C4744818 (UMLS CUI [1,1])
IS_TUMOR
Item
Tumor status
string
C0475752 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample [Blood]
string
C2347029 (UMLS CUI [1,1])

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