ID

45047

Descripción

Principal Investigator: Erwin P. Bottinger, Charles R. Bronfman Institute for Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA MeSH: Coronary Artery Disease,Chronic Kidney Failure,Diabetes Mellitus, Type 2,Hypertension,Dyslipidemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000388 The Institute for Personalized Medicine (IPM) Biobank Project is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Biobank populations include 28% African American (AA), 38% Hispanic Latino (HL) predominantly of Caribbean origin, 23% Caucasian/White (CW). IPM Biobank disease burden is reflective of health disparities with broad public health impact: average body mass index of 28.9 and frequencies of hypertension (55%), hypercholesterolemia (32%), diabetes (30%), coronary artery disease (25%), chronic kidney disease (23%), among others. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites, waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. Minorities are strikingly underrepresented in GWAS, including Coronary Artery Disease (CAD) and Chronic Kidney Disease; multigenic genetic risk scores for CAD have been recently validated in European ancestry populations, but not in AA or HL populations. Several important opportunities exist for extending additional GWAS to minority populations with a shared risk spectrum of CAD and CKD. For example, progressive CKD is a major and independent risk factor for CVD with an inverse relationship between estimated GFR (eGFR), and risk for mortality and cardiovascular events. This increased risk is only partially explained by the prevalence of cardiovascular risk factors among these patients. We conducted a GWAS of CAD and CKD related phenotypes in IPM Biobank with the primary objective to explore the genetics of overlapping CAD and CKD predominantly in minority populations characterized by increased risk.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000388

Palabras clave

  1. 2/8/22 2/8/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Erwin P. Bottinger, Charles R. Bronfman Institute for Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA

Subido en

2 de agosto de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000388 IPM BioBank GWAS

Subject - Consent Information

pht002351
Descripción

pht002351

De-identified Subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Consent group as determined by DAC
Descripción

CONSENT

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1257890

Similar models

Subject - Consent Information

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht002351
SUBJID
Item
De-identified Subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C1257890 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Health Research (HR), maybe used for genetic studies to learn about, prevent, or treat health problems. (1)

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