ID

45893

Descripción

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

Palabras clave

  1. 1/12/23 1/12/23 - Simon Heim
Titular de derechos de autor

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

Subido en

1 de diciembre de 2023

DOI

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Licencia

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
Descripción

pht005681

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

SAMPLE_ID

Tipo de datos

string

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

BODY_SITE

Tipo de datos

string

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

ANALYTE_TYPE

Tipo de datos

string

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

IS_TUMOR

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0475752
Sequencing Center where sample was sequenced
Descripción

SEQUENCING_CENTER

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1561491
Project funding source
Descripción

Funding_Source

Tipo de datos

string

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

TOPMed_Phase

Tipo de datos

text

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

TOPMed_Project

Tipo de datos

string

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

Study_Name

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0947630
UMLS CUI [1,2]
C1806781
UMLS CUI [1,3]
C0027365

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
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
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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