ID

45780

Description

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=phs001097 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 tr tdSouth Asian/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td563/td td585/td /tr /table The Singapore studies contributed 1049 cases and 1177 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001097

Keywords

  1. 6/20/23 6/20/23 - Chiara Middel
Copyright Holder

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

Uploaded on

June 20, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001097 T2D-GENES Multi-Ethnic Exome Sequencing Study: Singapore

Eligibility Criteria

Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Cases were ascertained according to the following criteria:
Description

Elig.phs001097.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0243161
Clinically ascertained T2D from primary care clinics.
Description

Elig.phs001097.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0332140
UMLS CUI [1,2]
C0011860
UMLS CUI [1,3]
C0033137
UMLS CUI [1,4]
C0442592
Individuals with early age of diagnosis and with at least one first degree relative with T2D were preferentially selected. Controls were determined according to the following criteria:
Description

Elig.phs001097.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C0242802
UMLS CUI [1,2]
C1279919
UMLS CUI [1,3]
C1828181
UMLS CUI [1,4]
C1524031
UMLS CUI [1,5]
C0205447
UMLS CUI [1,6]
C1517194
UMLS CUI [1,7]
C0011860
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1512693
UMLS CUI [2,3]
C0243161
Fasting blood glucose <6 mmol/l.
Description

Elig.phs001097.v1.p1.4

Data type

boolean

Alias
UMLS CUI [1,1]
C0428568
No personal history of diabetes.
Description

Elig.phs001097.v1.p1.5

Data type

boolean

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C0262926
UMLS CUI [1,3]
C0011849
No anti-diabetic medication.
Description

Elig.phs001097.v1.p1.6

Data type

boolean

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C0935929
UMLS CUI [1,3]
C0013227
Older controls preferentially selected.
Description

Elig.phs001097.v1.p1.7

Data type

boolean

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C2986479
UMLS CUI [1,3]
C0949543

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001097.v1.p1.1
Item
Cases were ascertained according to the following criteria:
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
Elig.phs001097.v1.p1.2
Item
Clinically ascertained T2D from primary care clinics.
boolean
C0332140 (UMLS CUI [1,1])
C0011860 (UMLS CUI [1,2])
C0033137 (UMLS CUI [1,3])
C0442592 (UMLS CUI [1,4])
Elig.phs001097.v1.p1.3
Item
Individuals with early age of diagnosis and with at least one first degree relative with T2D were preferentially selected. Controls were determined according to the following criteria:
boolean
C0242802 (UMLS CUI [1,1])
C1279919 (UMLS CUI [1,2])
C1828181 (UMLS CUI [1,3])
C1524031 (UMLS CUI [1,4])
C0205447 (UMLS CUI [1,5])
C1517194 (UMLS CUI [1,6])
C0011860 (UMLS CUI [1,7])
C0009932 (UMLS CUI [2,1])
C1512693 (UMLS CUI [2,2])
C0243161 (UMLS CUI [2,3])
Elig.phs001097.v1.p1.4
Item
Fasting blood glucose <6 mmol/l.
boolean
C0428568 (UMLS CUI [1,1])
Elig.phs001097.v1.p1.5
Item
No personal history of diabetes.
boolean
C1298908 (UMLS CUI [1,1])
C0262926 (UMLS CUI [1,2])
C0011849 (UMLS CUI [1,3])
Elig.phs001097.v1.p1.6
Item
No anti-diabetic medication.
boolean
C1298908 (UMLS CUI [1,1])
C0935929 (UMLS CUI [1,2])
C0013227 (UMLS CUI [1,3])
Elig.phs001097.v1.p1.7
Item
Older controls preferentially selected.
boolean
C0001779 (UMLS CUI [1,1])
C2986479 (UMLS CUI [1,2])
C0949543 (UMLS CUI [1,3])

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