ID

45693

Description

Principal Investigator: Donna K. Arnett, PhD, School of Public Health, University of Kentucky, Lexington, KY, USA MeSH: Hypertrophy, Left Ventricular,Antihypertensive Agents,Blood Pressure,Diastolic Pressure,Echocardiography,Heart Atria,Heart Ventricles,Hypertension,Stroke Volume,Systolic Pressure,Ventricular Dysfunction, Left,Ventricular Ejection Fraction,Ventricular Function, Left,Ventricular Remodeling https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001293 The Hypertension Genetic Epidemiology Network Study (HyperGEN) - Genetics of Left Ventricular (LV) Hypertrophy is a familial study aimed to understand genetic risk factors for LV hypertrophy by conducting genetic studies of continuous traits from echocardiography exams. The originating HyperGEN study aimed to understand genetic risk factors for hypertension. Data from detailed clinical exams as well as genotyping data for linkage studies, candidate gene studies and GWAS have been collected and is shared between HyperGEN and the ancillary HyperGEN - Genetics of LV Hypertrophy study.

Link

dbGaP-study=phs001293

Keywords

  1. 5/9/23 5/9/23 - Chiara Middel
Copyright Holder

Donna K. Arnett, PhD, School of Public Health, University of Kentucky, Lexington, KY, USA

Uploaded on

May 9, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001293 NHLBI TOPMed: HyperGEN - Genetics of Left Ventricular (LV) Hypertrophy

The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status. All subjects are controls for studying continuous traits from echocardiography exams.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status. All subjects are controls for studying continuous traits from echocardiography exams.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, sex of subjects, and monozygotic twin IDs.
    4. This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    5. This subject phenotypes data table includes age, sex, race, education, field center and lab ID, medical history (n=13 variables; menopause, pregnancy, preeclampsia, hormone medication, heart attack, heart bypass, and stroke), hypertension status (n=2 variables), diabetes status, anthropometric measures (n=15 variables; waist, hip, triceps, subscapularis, elbow, weight, height, BMI, percent body fat), blood pressure and pulse (n=33 variables; systolic, diastolic, sitting, standing, mean arterial pressure), echocardiographic measurements (n=12 variables), blood and urine measurements (n=34 variables), medications (n=12 variables), alcohol use (n=11 variables), and smoking status (n=4 variables).
    6. This sample attributes table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project, and study name.
pht008893
Description

pht008893

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Case control status of the subject
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646
Repository name for dbGaP study also containing this individual
Description

SUBJECT_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0027365
UMLS CUI [1,3]
C0008976
UMLS CUI [1,4]
C0332256
UMLS CUI [1,5]
C0237401
Subject ID used in the SUBJECT_SOURCE repository
Description

SOURCE_SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416

Similar models

The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status. All subjects are controls for studying continuous traits from echocardiography exams.

  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, subject aliases, and affection status. All subjects are controls for studying continuous traits from echocardiography exams.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, sex of subjects, and monozygotic twin IDs.
    4. This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    5. This subject phenotypes data table includes age, sex, race, education, field center and lab ID, medical history (n=13 variables; menopause, pregnancy, preeclampsia, hormone medication, heart attack, heart bypass, and stroke), hypertension status (n=2 variables), diabetes status, anthropometric measures (n=15 variables; waist, hip, triceps, subscapularis, elbow, weight, height, BMI, percent body fat), blood pressure and pulse (n=33 variables; systolic, diastolic, sitting, standing, mean arterial pressure), echocardiographic measurements (n=12 variables), blood and urine measurements (n=34 variables), medications (n=12 variables), alcohol use (n=11 variables), and smoking status (n=4 variables).
    6. This sample attributes table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project, and study name.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht008893
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
text
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Subjects did not participate in the study, did not complete a consent document and are included only for the pedigree structure and/or genotype controls, such as HapMap subjects (0)
C5418626 (UMLS CUI [1,1])
C0549184 (UMLS CUI [1,2])
C0009797 (UMLS CUI [1,3])
C0205257 (UMLS CUI [1,4])
C2700399 (UMLS CUI [1,5])
C0030761 (UMLS CUI [1,6])
C5418626 (UMLS CUI [2,1])
C0549184 (UMLS CUI [2,2])
C0009797 (UMLS CUI [2,3])
C0205257 (UMLS CUI [2,4])
C2700399 (UMLS CUI [2,5])
C0017431 (UMLS CUI [2,6])
C4553389 (UMLS CUI [2,7])
CL Item
General Research Use (IRB) (GRU-IRB) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Cardiovascular Disease, IRB, RD) (DS-CVD-IRB-RD) (2)
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
C3274648 (UMLS CUI [1,1])
SUBJECT_SOURCE
Item
Repository name for dbGaP study also containing this individual
string
C3847505 (UMLS CUI [1,1])
C0027365 (UMLS CUI [1,2])
C0008976 (UMLS CUI [1,3])
C0332256 (UMLS CUI [1,4])
C0237401 (UMLS CUI [1,5])
SOURCE_SUBJECT_ID
Item
Subject ID used in the SUBJECT_SOURCE repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])

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