ID

45047

Description

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

Keywords

  1. 8/2/22 8/2/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

August 2, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000388 IPM BioBank GWAS

The dataset provides affection status information (affected/unaffected) of chronic kidney and chronic artery disease, type 2 diabetes, lipid disorders and hypertension of African-, Hispanic-, European-American subjects.

pht002353
Description

pht002353

De-identified Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Gender of subject
Description

GENDER

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Ethnicity of subject
Description

RACE

Data type

text

Alias
UMLS CUI [1,1]
C0015031
Age of subject (as of submission)
Description

AGE

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0001779
Years
Chronic Kidney Disease - affection status
Description

CKD

Data type

text

Alias
UMLS CUI [1,1]
C1561643
Coronary Artery Disease - affection status
Description

CAD

Data type

text

Alias
UMLS CUI [1,1]
C1956346
Type 2 Diabetes - affection status
Description

T2D

Data type

text

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0441730
Lipid Disorder - affection status
Description

LIPIDS

Data type

text

Alias
UMLS CUI [1,1]
C0154251
Hypertension - affection status
Description

HYPERTENSION

Data type

text

Alias
UMLS CUI [1,1]
C0020538

Similar models

The dataset provides affection status information (affected/unaffected) of chronic kidney and chronic artery disease, type 2 diabetes, lipid disorders and hypertension of African-, Hispanic-, European-American subjects.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002353
SUBJID
Item
De-identified Subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of subject
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of subject
CL Item
Male (M)
CL Item
Female (F)
Item
Ethnicity of subject
text
C0015031 (UMLS CUI [1,1])
Code List
Ethnicity of subject
CL Item
European American (EA)
CL Item
African American (AA)
CL Item
Hispanic American (HA)
AGE
Item
Age of subject (as of submission)
text
C0001779 (UMLS CUI [1,1])
Item
Chronic Kidney Disease - affection status
text
C1561643 (UMLS CUI [1,1])
Code List
Chronic Kidney Disease - affection status
CL Item
Affected (case) (1)
CL Item
Unaffected (control) (2)
CL Item
Excluded from control group (-9)
Item
Coronary Artery Disease - affection status
text
C1956346 (UMLS CUI [1,1])
Code List
Coronary Artery Disease - affection status
CL Item
Affected (case) (1)
CL Item
Unaffected (control) (2)
CL Item
Excluded from control group (-9)
Item
Type 2 Diabetes - affection status
text
C0011849 (UMLS CUI [1,1])
C0441730 (UMLS CUI [1,2])
Code List
Type 2 Diabetes - affection status
CL Item
Affected (case) (1)
CL Item
Unaffected (control) (2)
Item
Lipid Disorder - affection status
text
C0154251 (UMLS CUI [1,1])
Code List
Lipid Disorder - affection status
CL Item
Affected (case) (1)
CL Item
Unaffected (control) (2)
Item
Hypertension - affection status
text
C0020538 (UMLS CUI [1,1])
Code List
Hypertension - affection status
CL Item
Affected (case) (1)
CL Item
Unaffected (control) (2)

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