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

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.

  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.
pht008897
Description

pht008897

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Description

SAMPLE_ID

Data type

string

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

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte Type
Description

ANALYTE_TYPE

Data type

string

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

IS_TUMOR

Data type

string

Alias
UMLS CUI [1,1]
C0475752
Name of the center which conducted sequencing
Description

SEQUENCING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491
Project funding source
Description

Funding_Source

Data type

string

Alias
UMLS CUI [1,1]
C1709701
UMLS CUI [1,2]
C0243098
UMLS CUI [1,3]
C0449416
TOPMed Phase
Description

TOPMed_Phase

Data type

text

Alias
UMLS CUI [1,1]
C0205390
UMLS CUI [1,2]
C2603343
TOPMed Project that funded sequencing
Description

TOPMed_Project

Data type

string

Alias
UMLS CUI [1,1]
C1709701
UMLS CUI [1,2]
C0243098
UMLS CUI [1,3]
C1561491
TOPMed-assigned short study name (1:1 with TOPMed phs number)
Description

Study_Name

Data type

string

Alias
UMLS CUI [1,1]
C2348560

Similar models

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.

  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
pht008897
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte Type
string
C4744818 (UMLS CUI [1,1])
IS_TUMOR
Item
Tumor status
string
C0475752 (UMLS CUI [1,1])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
Funding_Source
Item
Project funding source
string
C1709701 (UMLS CUI [1,1])
C0243098 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
TOPMed_Phase
Item
TOPMed Phase
text
C0205390 (UMLS CUI [1,1])
C2603343 (UMLS CUI [1,2])
TOPMed_Project
Item
TOPMed Project that funded sequencing
string
C1709701 (UMLS CUI [1,1])
C0243098 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
Study_Name
Item
TOPMed-assigned short study name (1:1 with TOPMed phs number)
string
C2348560 (UMLS CUI [1,1])

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