ID

45781

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=phs001096 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 Korea Association Research Project (KARE) studies contributed 526 cases and 561 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001096

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 phs001096 T2D-GENES Multi-Ethnic Exome Sequencing Study: KARE

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.phs001096.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0243161
Past history of T2D.
Description

Elig.phs001096.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0011860
Use of T2D medication.
Description

Elig.phs001096.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C0011860
UMLS CUI [1,3]
C0013227
Fasting plasma glucose >/=7 mmol/l or plasma glucose >/=11.1 mmol/l 2 hours after ingestion of 75gm oral glucose load.
Description

Elig.phs001096.v1.p1.4

Data type

boolean

Alias
UMLS CUI [1,1]
C0583513
UMLS CUI [2,1]
C2317810
UMLS CUI [2,2]
C0029161
Age of disease onset >/=40 years.
Description

Elig.phs001096.v1.p1.5

Data type

boolean

Alias
UMLS CUI [1,1]
C0206132
Participants with early onset and family history prioritized. Controls were determined according to the following criteria:
Description

Elig.phs001096.v1.p1.6

Data type

boolean

Alias
UMLS CUI [1,1]
C1279919
UMLS CUI [1,2]
C0574845
UMLS CUI [1,3]
C0241889
UMLS CUI [1,4]
C0549179
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1512693
UMLS CUI [2,3]
C0243161
No past history of diabetes.
Description

Elig.phs001096.v1.p1.7

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.phs001096.v1.p1.8

Data type

boolean

Alias
UMLS CUI [1,1]
C1298908
UMLS CUI [1,2]
C0935929
UMLS CUI [1,3]
C0013227
Fasting plasma glucose <5.6 mmol/l and plasma glucose 2 hours after ingestion of 75g oral glucose load <7.8 mmol/l at both baseline and follow up timepoints.
Description

Elig.phs001096.v1.p1.9

Data type

boolean

Alias
UMLS CUI [1,1]
C0583513
UMLS CUI [2,1]
C2238058
UMLS CUI [2,2]
C0029161
UMLS CUI [2,3]
C1442488
UMLS CUI [3,1]
C2238058
UMLS CUI [3,2]
C0029161
UMLS CUI [3,3]
C1522577
UMLS CUI [3,4]
C2348792
Older subjects with normal glucose prioritized.
Description

Elig.phs001096.v1.p1.10

Data type

boolean

Alias
UMLS CUI [1,1]
C0549179
UMLS CUI [1,2]
C0001779
UMLS CUI [1,3]
C0205307
UMLS CUI [1,4]
C0202042
Samples with age of diagnosis <40 excluded.
Description

Elig.phs001096.v1.p1.11

Data type

boolean

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0680251
UMLS CUI [1,3]
C1828181

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.phs001096.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.phs001096.v1.p1.2
Item
Past history of T2D.
boolean
C0262926 (UMLS CUI [1,1])
C0011860 (UMLS CUI [1,2])
Elig.phs001096.v1.p1.3
Item
Use of T2D medication.
boolean
C1524063 (UMLS CUI [1,1])
C0011860 (UMLS CUI [1,2])
C0013227 (UMLS CUI [1,3])
Elig.phs001096.v1.p1.4
Item
Fasting plasma glucose >/=7 mmol/l or plasma glucose >/=11.1 mmol/l 2 hours after ingestion of 75gm oral glucose load.
boolean
C0583513 (UMLS CUI [1,1])
C2317810 (UMLS CUI [2,1])
C0029161 (UMLS CUI [2,2])
Elig.phs001096.v1.p1.5
Item
Age of disease onset >/=40 years.
boolean
C0206132 (UMLS CUI [1,1])
Elig.phs001096.v1.p1.6
Item
Participants with early onset and family history prioritized. Controls were determined according to the following criteria:
boolean
C1279919 (UMLS CUI [1,1])
C0574845 (UMLS CUI [1,2])
C0241889 (UMLS CUI [1,3])
C0549179 (UMLS CUI [1,4])
C0009932 (UMLS CUI [2,1])
C1512693 (UMLS CUI [2,2])
C0243161 (UMLS CUI [2,3])
Elig.phs001096.v1.p1.7
Item
No past history of diabetes.
boolean
C1298908 (UMLS CUI [1,1])
C0262926 (UMLS CUI [1,2])
C0011849 (UMLS CUI [1,3])
Elig.phs001096.v1.p1.8
Item
No anti-diabetic medication.
boolean
C1298908 (UMLS CUI [1,1])
C0935929 (UMLS CUI [1,2])
C0013227 (UMLS CUI [1,3])
Elig.phs001096.v1.p1.9
Item
Fasting plasma glucose <5.6 mmol/l and plasma glucose 2 hours after ingestion of 75g oral glucose load <7.8 mmol/l at both baseline and follow up timepoints.
boolean
C0583513 (UMLS CUI [1,1])
C2238058 (UMLS CUI [2,1])
C0029161 (UMLS CUI [2,2])
C1442488 (UMLS CUI [2,3])
C2238058 (UMLS CUI [3,1])
C0029161 (UMLS CUI [3,2])
C1522577 (UMLS CUI [3,3])
C2348792 (UMLS CUI [3,4])
Elig.phs001096.v1.p1.10
Item
Older subjects with normal glucose prioritized.
boolean
C0549179 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C0205307 (UMLS CUI [1,3])
C0202042 (UMLS CUI [1,4])
Elig.phs001096.v1.p1.11
Item
Samples with age of diagnosis <40 excluded.
boolean
C2347026 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C1828181 (UMLS CUI [1,3])

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