0 Ratings

ID

45893

Description

Principal Investigator: Stephen T. McGarvey, PhD, MPH, Brown University, Providence, RI, USA MeSH: Obesity,Adiposity,Lipids,Blood Pressure https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000972 The individuals sequenced here represent a small subset of the parent study (described below) and were carefully selected for the purpose of creating a Samoan-specific reference panel for imputation back into the parent study. The INFOSTIP algorithm of Gusev et. al. (2012) (PMID: 22135348) was used to optimally choose the individuals for sequencing. The research goal of the parent study (dbGaP ID phs000914) is to identify genetic variation that increases susceptibility to obesity and cardiometabolic phenotypes among adult Samoans using genome-wide association (GWAS) methods. DNA from peripheral blood and phenotypic information were collected from 3,119 adult Samoans, 23 to 70 years of age. The participants reside throughout the independent nation of Samoa, which is experiencing economic development and the nutrition transition. Genotyping was performed with the Affymetrix Genome-Wide Human SNP 6.0 Array using a panel of approximately 900,000 SNPs. Anthropometric, fasting blood biomarkers and detailed dietary, physical activity, health and socio-demographic variables were collected. We are replicating the GWAS findings in an independent sample of 2,500 Samoans from earlier studies. After replication of genomic regions and informative SNPs in those regions, we will determine sequences of the important genes, and determine the specific genetic variants in the sequenced genes that are associated with adiposity and related cardiometabolic conditions. We will also identify gene by environment interactions, focusing on dietary intake patterns and nutrients.

Link

dbGaP study = phs000972

Keywords

  1. 12/1/23 12/1/23 - Simon Heim
Copyright Holder

Stephen T. McGarvey, PhD, MPH, Brown University, Providence, RI, USA

Uploaded on

December 1, 2023

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000972 NHLBI TOPMed: Genome-Wide Association Study of Adiposity in Samoans

    This sample attributes data table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase, project, and study name.

    pht005681
    Description

    pht005681

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified Sample ID
    Description

    SAMPLE_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Description

    BODY_SITE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte Type
    Description

    ANALYTE_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Description

    IS_TUMOR

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005
    Sequencing Center where sample was sequenced
    Description

    SEQUENCING_CENTER

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1301943 (Institution name)
    SNOMED
    398321007
    UMLS CUI [1,2]
    C5575037 (undefined)
    UMLS CUI [1,3]
    C1561491 (Sequencing)
    Project funding source
    Description

    Funding_Source

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C1709701 (Project)
    UMLS CUI [1,2]
    C0243098 (Funding)
    UMLS CUI [1,3]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    TOPMed Phase
    Description

    TOPMed_Phase

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0205390 (Phase)
    SNOMED
    21191007
    UMLS CUI [1,2]
    C2603343 (Study)
    TOPMed Project that funded sequencing
    Description

    TOPMed_Project

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0242356 (Databases)
    UMLS CUI [1,2]
    C1709701 (Project)
    UMLS CUI [1,3]
    C0243098 (Funding)
    UMLS CUI [1,4]
    C1561491 (Sequencing)
    TOPMed-assigned short study name (1:1 with TOPMed phs number)
    Description

    Study_Name

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0947630 (Scientific Study)
    LOINC
    LP102340-9
    UMLS CUI [1,2]
    C1806781 (Short)
    SNOMED
    367450005
    LOINC
    LA19631-3
    UMLS CUI [1,3]
    C0027365 (Name)
    SNOMED
    703503000
    LOINC
    LP72974-6

    Similar models

    This sample attributes data table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase, project, and study name.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht005681
    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
    Sequencing Center where sample was sequenced
    string
    C1301943 (UMLS CUI [1,1])
    C5575037 (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
    C0242356 (UMLS CUI [1,1])
    C1709701 (UMLS CUI [1,2])
    C0243098 (UMLS CUI [1,3])
    C1561491 (UMLS CUI [1,4])
    Study_Name
    Item
    TOPMed-assigned short study name (1:1 with TOPMed phs number)
    string
    C0947630 (UMLS CUI [1,1])
    C1806781 (UMLS CUI [1,2])
    C0027365 (UMLS CUI [1,3])

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