0 Ratings

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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