ID

45783

Descripción

Principal Investigator: David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001093 T2D-GENES (Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Multi-Ethnic Samples) is a NIDDK-funded international research consortium which seeks to identify genetic variants for type 2 diabetes (T2D) through multiethnic sequencing studies. T2D-GENES Project 1 is a multi-ethnic sequencing study designed to assess whether less common variants play a role in T2D risk and to assess similarities and differences in the distribution of T2D risk variants across ancestry groups. The individuals were obtained from 14 cohorts that are listed in Table 1. The strategy was to perform deep exome sequencing of 12,940 individuals, 6,504 with T2D and 6,436 controls, divided among five ancestry groups: Europeans, East Asians, South Asians, American Hispanics, and African Americans. Sequencing was performed at the Broad Institute using the Agilent v2 capture reagent on Illumina HiSeq machines. Please note that while we summarize the full sample list in publications and below, the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) study does not have a sub study, as it is not consented to be deposited in dbGAP. *Table 1.* T2D-GENES Whole Exome Sequencing Studies table border="1" tr th*Ancestry*/th th*Study*/th th*Countries of Origin*/th th*# Cases*/th th*# Controls*/th /tr tr tdAfrican American/td tdJackson Heart Study/td tdUS/td td502/td td527/td /tr tr tdAfrican American/td tdWake Forest School of Medicine Study/td tdUS/td td518/td td532/td /tr tr tdEast Asian/td tdKorea Association Research Project/td tdKorea/td td526/td td561/td /tr tr tdEast Asian/td tdSingapore Diabetes Cohort Study; Singapore Prospective Study Program/td tdSingapore (Chinese)/td td486/td td592/td /tr tr tdEuropean/td tdAshkenazi/td tdUS, Israel/td td506/td td352/td /tr tr tdEuropean/td tdMetabolic Syndrome in Men Study (METSIM)/td tdFinland/td td484/td td498/td /tr tr tdEuropean/td tdFinland-United States Investigation of NIDDM Genetics (FUSION) Study/td tdFinland/td td472/td td476/td /tr tr tdEuropean/td tdKooperative Gesundheitsforschung in der Region Augsburg (KORA)/td tdGermany/td td97/td td90/td /tr tr tdEuropean/td tdUK Type 2 Diabetes Genetics Consortium (UKT2D)/td tdUK/td td322/td td320/td /tr tr tdEuropean/td tdMalmö-Botnia Study/td tdFinland, Sweden/td td478/td td443/td /tr tr tdHispanic/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 td219/td /tr tr tdHispanic/td tdStarr County, Texas/td tdUS/td td749/td td704/td /tr tr tdSouth Asian/td tdLondon Life Sciences Population Study (LOLIPOP)/td tdUK (Indian Asian)/td td530/td td538/td /tr tdSouth Asian/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td563/td td585/td /table The London Life Sciences Population Study (LOLIPOP) contributed 530 cases and 538 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001093

Palabras clave

  1. 21/6/23 21/6/23 - Chiara Middel
Titular de derechos de autor

David Altshuler, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA

Subido en

21 de junio de 2023

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs001093 T2D-GENES Multi-Ethnic Exome Sequencing Study: UK South Asian

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Cases were ascertained according to the following criteria: Samples were chosen from a population-based cohort study.
Descripción

Elig.phs001093.v1.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0243161
UMLS CUI [2,1]
C0870078
UMLS CUI [2,2]
C0599755
UMLS CUI [2,3]
C1709599
Indian Asians living in West London, UK, with all 4 grandparents born on the Indian subcontinent.
Descripción

Elig.phs001093.v1.p1.2

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1524069
UMLS CUI [1,2]
C0237096
UMLS CUI [1,3]
C0017446
UMLS CUI [1,4]
C0444868
UMLS CUI [1,5]
C0337471
UMLS CUI [1,6]
C0032040
UMLS CUI [1,7]
C0454693
Prevalent T2D defined as previous physician diagnosis of diabetes on treatment, with onset of diabetes after the age of 18 years and without insulin use in the first year after diagnosis; or fasting plasma glucose >/=7.0 mmol/L.
Descripción

Elig.phs001093.v1.p1.3

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C5204628
UMLS CUI [1,2]
C0011860
UMLS CUI [1,3]
C1704788
UMLS CUI [1,4]
C0205156
UMLS CUI [1,5]
C0031831
UMLS CUI [1,6]
C0011900
UMLS CUI [1,7]
C0011849
UMLS CUI [1,8]
C4684449
UMLS CUI [2,1]
C0206132
UMLS CUI [2,2]
C0011849
UMLS CUI [2,3]
C0001779
UMLS CUI [2,4]
C1298908
UMLS CUI [2,5]
C0240016
UMLS CUI [2,6]
C0205435
UMLS CUI [2,7]
C0439234
UMLS CUI [2,8]
C0687676
UMLS CUI [2,9]
C0011900
UMLS CUI [3,1]
C0583513
Controls were determined according to the following criteria: No previous history of diabetes.
Descripción

Elig.phs001093.v1.p1.4

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0243161
UMLS CUI [1,4]
C1298908
UMLS CUI [1,5]
C0262926
UMLS CUI [1,6]
C0011849
No anti-diabetic medication.
Descripción

Elig.phs001093.v1.p1.5

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C0935929
Fasting plasma glucose <6.0 mmol/L.
Descripción

Elig.phs001093.v1.p1.6

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0583513
Samples with age of onset <18 excluded.
Descripción

Elig.phs001093.v1.p1.7

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0206132
UMLS CUI [1,3]
C2828389

Similar models

Eligibility Criteria

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001093.v1.p1.1
Item
Cases were ascertained according to the following criteria: Samples were chosen from a population-based cohort study.
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
C0870078 (UMLS CUI [2,1])
C0599755 (UMLS CUI [2,2])
C1709599 (UMLS CUI [2,3])
Elig.phs001093.v1.p1.2
Item
Indian Asians living in West London, UK, with all 4 grandparents born on the Indian subcontinent.
boolean
C1524069 (UMLS CUI [1,1])
C0237096 (UMLS CUI [1,2])
C0017446 (UMLS CUI [1,3])
C0444868 (UMLS CUI [1,4])
C0337471 (UMLS CUI [1,5])
C0032040 (UMLS CUI [1,6])
C0454693 (UMLS CUI [1,7])
Elig.phs001093.v1.p1.3
Item
Prevalent T2D defined as previous physician diagnosis of diabetes on treatment, with onset of diabetes after the age of 18 years and without insulin use in the first year after diagnosis; or fasting plasma glucose >/=7.0 mmol/L.
boolean
C5204628 (UMLS CUI [1,1])
C0011860 (UMLS CUI [1,2])
C1704788 (UMLS CUI [1,3])
C0205156 (UMLS CUI [1,4])
C0031831 (UMLS CUI [1,5])
C0011900 (UMLS CUI [1,6])
C0011849 (UMLS CUI [1,7])
C4684449 (UMLS CUI [1,8])
C0206132 (UMLS CUI [2,1])
C0011849 (UMLS CUI [2,2])
C0001779 (UMLS CUI [2,3])
C1298908 (UMLS CUI [2,4])
C0240016 (UMLS CUI [2,5])
C0205435 (UMLS CUI [2,6])
C0439234 (UMLS CUI [2,7])
C0687676 (UMLS CUI [2,8])
C0011900 (UMLS CUI [2,9])
C0583513 (UMLS CUI [3,1])
Elig.phs001093.v1.p1.4
Item
Controls were determined according to the following criteria: No previous history of diabetes.
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
C1298908 (UMLS CUI [1,4])
C0262926 (UMLS CUI [1,5])
C0011849 (UMLS CUI [1,6])
Elig.phs001093.v1.p1.5
Item
No anti-diabetic medication.
boolean
C1298908 (UMLS CUI [1,1])
C0935929 (UMLS CUI [1,2])
Elig.phs001093.v1.p1.6
Item
Fasting plasma glucose <6.0 mmol/L.
boolean
C0583513 (UMLS CUI [1,1])
Elig.phs001093.v1.p1.7
Item
Samples with age of onset <18 excluded.
boolean
C2347026 (UMLS CUI [1,1])
C0206132 (UMLS CUI [1,2])
C2828389 (UMLS CUI [1,3])

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