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.

Lien

dbGaP study = phs000662

Mots-clés

  1. 24/01/2023 24/01/2023 - Simon Heim
Détendeur de droits

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

Téléchargé le

24 janvier 2023

DOI

Pour une demande vous connecter.

Licence

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
De-identified Sample ID
Description

SAMPLE_ID

Type de données

string

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

BODY_SITE

Type de données

string

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

ANALYTE_TYPE

Type de données

string

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

IS_TUMOR

Type de données

text

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

GENOTYPING_CENTER

Type de données

string

Alias
UMLS CUI [1,1]
C0027365
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1285573

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)
Type de données
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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