ID

45249

Descripción

Principal Investigator: Stacey Gabriel, Broad Institute, Cambridge, MA, USA MeSH: Myocardial Infarction https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000279 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. In the Grand Opportunities Exome Sequencing Program Early MI Project (GO ESP - EOMI), we are sequencing cases with extremely early-onset MI drawn from 8 cohorts. These cohorts include five hospital or community-based studies that ascertained individuals based on MI status. These include PennCATH, Cleveland Clinic Genebank, Massachusetts General Hospital Premature Coronary Artery Disease Study (MGH-PCAD), Heart Attack Risk in Puget Sound (HARPS), and Translational Research Investigating Underlying Disparities in Myocardial Infarction Patients' Health Status (TRIUMPH). Cases were selected based on MI occurring in men aged ≤50 years and women aged ≤60 years. In addition, early-MI cases are being drawn from three population-cohort studies including the Framingham Heart Study, the Women's Health Initiative, and the Atherosclerosis Risk in Communities Study. MI-free controls are being drawn from five population-based cohort studies including the Framingham Heart Study, the Women's Health Initiative, Atherosclerosis Risk in Communities Study, Cardiovascular Health Study, and the Jackson Heart Study. Controls were selected based on two factors: (1) highest predicted risk for MI based on Framingham risk score; and (2) absence of prevalent or incident MI despite a high predicted risk.

Link

dbGaP study = phs000279

Palabras clave

  1. 4/7/22 4/7/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Stacey Gabriel, Broad Institute, Cambridge, MA, USA

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000279 NHLBI GO-ESP: Early-Onset Myocardial Infarction (Broad EOMI)

The sample attributes data table includes sample analyte type (DNA or RNA), body site where sample was extracted, tumor status, and histological type.

pht003003
Descripción

pht003003

De-identified Sample ID
Descripción

SAMPID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Descripción

BODY_SITE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1515974
UMLS CUI [1,2]
C0005834
Analyte Type
Descripción

ANALYTE_TYPE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0443354
UMLS CUI [1,2]
C0332307
Cell or tissue type or subtype of sample
Descripción

HISTOLOGICAL_TYPE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0449475
UMLS CUI [1,2]
C2713035
UMLS CUI [1,3]
C0449560
Tumor status
Descripción

IS_TUMOR

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0475752

Similar models

The sample attributes data table includes sample analyte type (DNA or RNA), body site where sample was extracted, tumor status, and histological type.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht003003
SAMPID
Item
De-identified Sample ID
string
C2346787 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C1515974 (UMLS CUI [1,1])
C0005834 (UMLS CUI [1,2])
ANALYTE_TYPE
Item
Analyte Type
string
C0443354 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C0449475 (UMLS CUI [1,1])
C2713035 (UMLS CUI [1,2])
C0449560 (UMLS CUI [1,3])
IS_TUMOR
Item
Tumor status
string
C0475752 (UMLS CUI [1,1])

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