0 Ratings

ID

45577

Description

Principal Investigator: Steven Hirschfeld, MD, PhD, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000662 The National Children's Study (NCS) is a multi-year prospective epidemiological study tasked with identifying a nationally representative sample of 100,000 children and following them from pregnancy through age 21 to study environmental impacts on growth, development, and health. Determination of NCS enrollee ancestry is important for assessing the diversity of study enrollees and for examining the effect of ancestry on various health outcomes. We estimated the genetic ancestry of a convenience sample of 641 parents enrolled at the 7 original NCS Vanguard sites by analyzing 29,972 markers on exome arrays, using the participants of the 1000 Genomes Project (1KG) super populations (e.g. European, East Asian) as reference populations, and compared this to self-reported ethnicity and race. Self-reported ethnicity and race agreed with predicted super population in 98.9% of individuals. NCS individuals identified as Asian by self-report had genetic ancestry of either South Asian or Asian groups, while those reporting as either Hispanic White or Hispanic Other had similar genetic ancestry. Of the 33 individuals who self-reported as Multiracial or Non-Hispanic Other, 11 (33%) matched the South Asian and Asian groups, while these groups were less represented in the other reported categories (27/609, 4.4%). Our data suggest that self-reported ethnicity and race categories have some limitations in accurately capturing this information for Hispanic and South Asian populations. Overall, our data indicate that despite the complexity of the U.S. population, individuals know their ancestral origins and that self-reported ethnicity and race is a reliable indicator of genetic ancestry.

Link

dbGaP study = phs000662

Keywords

  1. 1/24/23 1/24/23 - Simon Heim
Copyright Holder

Steven Hirschfeld, MD, PhD, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

Uploaded on

January 24, 2023

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000662 National Children's Study Vanguard Study Formative Research Study (NCS)

    This sample attributes table includes body site where sample was extracted, analyte type, tumor status, and genotyping center.

    pht003561
    Description

    pht003561

    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

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005
    Name of the center which conducted genotyping
    Description

    GENOTYPING_CENTER

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0027365 (Name)
    SNOMED
    703503000
    LOINC
    LP72974-6
    UMLS CUI [1,2]
    C5575037 (undefined)
    UMLS CUI [1,3]
    C1285573 (Genotype determination)
    SNOMED
    726528006
    LOINC
    LP28723-2

    Similar models

    This sample attributes table includes body site where sample was extracted, analyte type, tumor status, and genotyping center.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht003561
    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])
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not a tumor (N)
    C0027651 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Is Tumor (Y)
    C0027651 (UMLS CUI [1,1])
    GENOTYPING_CENTER
    Item
    Name of the center which conducted genotyping
    string
    C0027365 (UMLS CUI [1,1])
    C5575037 (UMLS CUI [1,2])
    C1285573 (UMLS CUI [1,3])

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