ID

45609

Descripción

Principal Investigator: Jose Florez, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and Massachusetts General Hospital, Boston, MA, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001375 The ~52,000 sample Type 2 Diabetes Exome Sequencing project is a collaboration of six consortia with various funding mechanisms that have joined together to investigate genetic variants for type 2 diabetes (T2D) using the largest T2D case/control sample set compiled to date. This includes samples from: - Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) - Genetics of Type 2 Diabetes (GoT2D) - Exome Sequencing Project (ESP) - Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D) - Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP) - Progress in Diabetes Genetics in Youth (ProDIGY) This data generated from the SIGMA Mexico City Diabetes Study was part of the Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D), which is an international research consortium funded by the Carlos Slim Foundation that seeks to identify the genetic risk factors for type 2 diabetes (T2D) in Mexico and Latin America and translate those findings into improved treatment and prevention of diabetes. The SIGMA T2D project has sequenced and genotyped more than 13,000 samples from Mexican and Mexican Americans. The individuals were obtained from over 20 cohorts across the 6 consortia that are listed in Table 1. The strategy was to perform deep exome sequencing of individuals, 24,991 with T2D and 24,953 controls, divided among five ancestry groups: Europeans, East Asians, South Asians, American Hispanics, and African Americans. The T2D-GENES, ProDIGY and SIGMA studies, sequencing was performed at the Broad Institute using the Agilent v2 capture reagent or Illumina Rapid Capture on Illumina HiSeq machines. Please note that while we summarize the full sample list in publications and below, two of the cohorts below are not in dbGaP, due to the samples not being consented for deposition. This includes the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) study and Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp) study. The Exome Sequencing Project (ESP) was deposited in dbGaP as part of their initial study and the phs numbers for that project can be found here: https://esp.gs.washington.edu/drupal/dbGaP_Releases table style="width:100%" border="1" captionTable 1. 52,000 sample T2D Case/Control Whole Exome Sequencing Studies/caption tbodytr thAncestry/th thConsortia/th thStudy/th thCountries of Origin/th th# Cases/th th# Controls/th /tr tr tdAfrican American/td tdT2D-GENES Project 1/td tdJackson Heart Study/td tdUS/td td500/td td526/td /tr tr tdAfrican American/td tdT2D-GENES Project 1/td tdWake Forest School of Medicine Study/td tdUS/td td518/td td530/td /tr tr tdAfrican American/td tdESP/td tdExome Sequencing Project (ESP)/td tdUS/td td467/td td1374/td /tr tr tdAfrican American/td tdT2D-GENES Follow up study/td tdBioMe Biobank Program (BioMe)/td tdUS/td td1297/td td1256/td /tr tr tdEast Asian/td tdT2D-GENES Project 1/td tdKorea Association Research Project/td tdKorea/td td526/td td561/td /tr tr tdEast Asian/td tdT2D-GENES Project 1& Follow up Study/td tdSingapore Diabetes Cohort Study; Singapore Prospective Study Program/td tdSingapore (Chinese)/td td1486/td td1568/td /tr tr tdEast Asian/td tdT2D-GENES Follow up study/td tdKorea SNUH/td tdSouth Korea/td td450/td td475/td /tr tr tdEast Asian/td tdT2D-GENES Follow up study/td tdResearch Studies in Hong Kong (Hong Kong)/td tdHong Kong/td td493/td td485/td /tr tr tdEuropean/td tdT2D-GENES Project 1/td tdAshkenazi/td tdUS, Israel/td td506/td td355/td /tr tr tdEuropean/td tdT2D-GENES Project 1/td tdMetabolic Syndrome in Men Study (METSIM)/td tdFinland/td td484/td td498/td /tr tr tdEuropean/td tdGoT2D/td tdFinland-United States Investigation of NIDDM Genetics (FUSION) Study/td tdFinland/td td472/td td476/td /tr tr tdEuropean/td tdGoT2D/td tdKooperative Gesundheitsforschung in der Region Augsburg (KORA)/td tdGermany/td td97/td td90/td /tr tr tdEuropean/td tdGoT2D/td tdUK Type 2 Diabetes Genetics Consortium (UKT2D)/td tdUK/td td322/td td320/td /tr tr tdEuropean/td tdGoT2D/td tdMalmo-Botnia Study/td tdFinland, Sweden/td td478/td td443/td /tr tr tdEuropean/td tdLuCamp/td tdLundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)/td tdDenmark/td td997/td td997/td /tr tr tdEuropean/td tdESP/td tdExome Sequencing Project (ESP)/td tdUS/td td390/td td2843/td /tr tr tdEuropean/td tdT2D-GENES Follow up study/td tdGenetics of Diabetes and Audit Research Tayside Study (GoDARTS)/td tdScotland, UK/td td960/td td966/td /tr tr tdEuropean/td tdT2D-GENES Follow up study/td tdFramingham Heart Study (FHS)/td tdUS/td td396/td td596/td /tr tr tdHispanic/td tdT2D-GENES Project 1/td tdSan Antonio Family Heart Study, San Antonio Family Diabetes/ Gallbladder Study, Veterans Administration Genetic Epidemiology Study, and the Investigation of Nephropathy and Diabetes Study Family Component/td tdUS/td td272/td td218/td /tr tr tdHispanic/td tdT2D-GENES Project 1 & SIGMAv2/td tdStarr County, Texas/td tdUS/td td1762/td td1738/td /tr tr tdHispanic/td tdSIGMAv1/td tdMexico City Diabetes Study/td tdMexico/td td281/td td549/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdMultiethnic Cohort (MEC)/td tdUS/td td1476/td td1443/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdUNAM/INCMNSZ Diabetes Study (UIDS)/td tdMexico/td td1998/td td1977/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdDiabetes in Mexico Study (DMS)/td tdMexico/td td1522/td td1546/td /tr tr tdMulti ethnic/td tdProDIGY/td tdTreatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)/td tdUS/td td3097/td td0/td /tr tr tdMulti ethnic/td tdProDIGY/td tdSEARCH for Diabetes in Youth (SEARCH)/td tdUS/td td553/td td0/td /tr tr tdSouth Asian/td tdT2D-GENES Project 1/td tdLondon Life Sciences Population Study (LOLIPOP)/td tdUK (Indian Asian)/td td531/td td538/td /tr tr tdSouth Asian/td tdT2D-GENES Project 1 & Follow up study/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td1640/td td1478/td /tr tr tdSouth Asian/td tdT2D-GENES Follow up study/td tdPakistan Genomic Resource (PGR)/td tdPakistan/td td914/td td932/td /tr /tbody/table

Link

dbGaP-study=phs001375

Palabras clave

  1. 21/2/23 21/2/23 - Chiara Middel
Titular de derechos de autor

Jose Florez, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and Massachusetts General Hospital, Boston, MA, USA

Subido en

21 de febrero de 2023

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs001375 Slim Initiative in Genomic Medicine for the Americas (SIGMA): Mexico City Diabetes Study (MCDS)

This sample attribute table contains sample IDs, body site from where sample was taken, analyte type, histological type, and name of the center which conducted sequencing.

pht006523
Descripción

pht006523

Alias
UMLS CUI [1,1]
C3846158
Sample ID
Descripción

SAMPLE_ID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1299222
Body site from where sample was taken
Descripción

BODY_SITE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1515974
UMLS CUI [1,2]
C0200345
Analyte type used
Descripción

ANALYTE_TYPE

Tipo de datos

string

Alias
UMLS CUI [1,1]
c4744818
Tissue/cell type of sample
Descripción

HISTOLOGICAL_TYPE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0449475
UMLS CUI [1,2]
C2713035
Name of sequencing center
Descripción

SEQUENCING_CENTER

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C1561491
UMLS CUI [1,3]
C0565990

Similar models

This sample attribute table contains sample IDs, body site from where sample was taken, analyte type, histological type, and name of the center which conducted sequencing.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht006523
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
BODY_SITE
Item
Body site from where sample was taken
string
C1515974 (UMLS CUI [1,1])
C0200345 (UMLS CUI [1,2])
ANALYTE_TYPE
Item
Analyte type used
string
c4744818 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Tissue/cell type of sample
string
C0449475 (UMLS CUI [1,1])
C2713035 (UMLS CUI [1,2])
SEQUENCING_CENTER
Item
Name of sequencing center
string
C1301943 (UMLS CUI [1,1])
C1561491 (UMLS CUI [1,2])
C0565990 (UMLS CUI [1,3])

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