ID

45782

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=phs001095 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 Ashkenazi study contributed 506 cases and 352 controls to T2D-GENES Project 1.

Link

dbGaP-study=phs001095

Keywords

  1. 6/21/23 6/21/23 - Chiara Middel
Copyright Holder

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

Uploaded on

June 21, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001095 T2D-GENES Multi-Ethnic Exome Sequencing Study: Ashkenazi

The dataset provides information about T2D status, blood test results, including glucose, HbA1c, insulin, lipid, serum-C peptide test results, in addition to height, weight, BMI, and blood pressure measurements, and sociodemographic data.

pht005620
Description

pht005620

Alias
UMLS CUI [1,1]
C3846158
Study ID
Description

SUBJECT_ID

Data type

text

Alias
UMLS CUI [1,1]
C2826693
Sex
Description

SEX

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Age at study
Description

AGE

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C0008976
Years
Diabetes disease status
Description

T2D

Data type

text

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0012634
UMLS CUI [1,3]
C0449438
Diabetes age of diagnosis at time of study (if affected)
Description

AOD

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C1828181
UMLS CUI [1,3]
C0011008
UMLS CUI [1,4]
C0008976
Years
Fasting glucose
Description

FAST_GLU

Data type

text

Measurement units
  • mmol/l
Alias
UMLS CUI [1,1]
C0583513
mmol/l
Fasting insulin
Description

FAST_INS

Data type

text

Measurement units
  • mU/l
Alias
UMLS CUI [1,1]
C0015663
UMLS CUI [1,2]
C0202098
mU/l
HbA1C
Description

HBA1C

Data type

text

Measurement units
  • %
Alias
UMLS CUI [1,1]
C0474680
%
Creatinine
Description

CREATININE

Data type

text

Measurement units
  • mmol/l
Alias
UMLS CUI [1,1]
C0010294
mmol/l
Adiponectin
Description

ADIPONECTIN

Data type

text

Measurement units
  • mg/ml
Alias
UMLS CUI [1,1]
C2700366
mg/ml
Total cholesterol
Description

CHOL

Data type

text

Measurement units
  • mmol/l
Alias
UMLS CUI [1,1]
C1445957
mmol/l
LDL cholesterol
Description

LDL

Data type

text

Measurement units
  • mmol/l
Alias
UMLS CUI [1,1]
C0428474
mmol/l
HDL cholesterol
Description

HDL

Data type

text

Measurement units
  • mmol/l
Alias
UMLS CUI [1,1]
C0428472
mmol/l
Triglycerides
Description

TG

Data type

text

Measurement units
  • mmol/l
Alias
UMLS CUI [1,1]
C0202236
mmol/l
Height
Description

HEIGHT

Data type

text

Measurement units
  • cm
Alias
UMLS CUI [1,1]
C0005890
cm
Weight
Description

WEIGHT

Data type

text

Measurement units
  • kg
Alias
UMLS CUI [1,1]
C0005910
kg
BMI
Description

BMI

Data type

text

Measurement units
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
kg/m2
Hip circumference
Description

HIPC

Data type

text

Measurement units
  • cm
Alias
UMLS CUI [1,1]
C0562350
cm
Waist circumference
Description

WAISTC

Data type

text

Measurement units
  • cm
Alias
UMLS CUI [1,1]
C0455829
cm
Systolic blood pressure
Description

SBP

Data type

text

Measurement units
  • mmHg
Alias
UMLS CUI [1,1]
C0871470
mmHg
Diastolic blood pressure
Description

DBP

Data type

text

Measurement units
  • mmHg
Alias
UMLS CUI [1,1]
C0428883
mmHg
Diabetes medication?
Description

DIABMEDS

Data type

text

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0013227
Hypertension medication?
Description

BPMEDS

Data type

text

Alias
UMLS CUI [1,1]
C0020538
UMLS CUI [1,2]
C0013227
Lipid medication?
Description

LIPIDMEDS

Data type

text

Alias
UMLS CUI [1,1]
C0585943
Current use of female hormones?
Description

HORMONES

Data type

text

Alias
UMLS CUI [1,1]
C0521116
UMLS CUI [1,2]
C1524063
UMLS CUI [1,3]
C0086287
UMLS CUI [1,4]
C0019932
Consortium name
Description

CONSORTIUM

Data type

string

Alias
UMLS CUI [1,1]
C0027365
UMLS CUI [1,2]
C1880171
Cohort name
Description

COHORT

Data type

string

Alias
UMLS CUI [1,1]
C0599755
UMLS CUI [1,2]
C0027365

Similar models

The dataset provides information about T2D status, blood test results, including glucose, HbA1c, insulin, lipid, serum-C peptide test results, in addition to height, weight, BMI, and blood pressure measurements, and sociodemographic data.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005620
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Study ID
text
C2826693 (UMLS CUI [1,1])
Item
Sex
text
C0079399 (UMLS CUI [1,1])
Code List
Sex
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
AGE
Item
Age at study
text
C0001779 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C0008976 (UMLS CUI [1,3])
Item
Diabetes disease status
text
C0011849 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
Code List
Diabetes disease status
CL Item
NotT2D (0)
CL Item
T2D (1)
AOD
Item
Diabetes age of diagnosis at time of study (if affected)
text
C0011849 (UMLS CUI [1,1])
C1828181 (UMLS CUI [1,2])
C0011008 (UMLS CUI [1,3])
C0008976 (UMLS CUI [1,4])
FAST_GLU
Item
Fasting glucose
text
C0583513 (UMLS CUI [1,1])
FAST_INS
Item
Fasting insulin
text
C0015663 (UMLS CUI [1,1])
C0202098 (UMLS CUI [1,2])
HBA1C
Item
HbA1C
text
C0474680 (UMLS CUI [1,1])
CREATININE
Item
Creatinine
text
C0010294 (UMLS CUI [1,1])
ADIPONECTIN
Item
Adiponectin
text
C2700366 (UMLS CUI [1,1])
CHOL
Item
Total cholesterol
text
C1445957 (UMLS CUI [1,1])
LDL
Item
LDL cholesterol
text
C0428474 (UMLS CUI [1,1])
HDL
Item
HDL cholesterol
text
C0428472 (UMLS CUI [1,1])
TG
Item
Triglycerides
text
C0202236 (UMLS CUI [1,1])
HEIGHT
Item
Height
text
C0005890 (UMLS CUI [1,1])
WEIGHT
Item
Weight
text
C0005910 (UMLS CUI [1,1])
BMI
Item
BMI
text
C1305855 (UMLS CUI [1,1])
HIPC
Item
Hip circumference
text
C0562350 (UMLS CUI [1,1])
WAISTC
Item
Waist circumference
text
C0455829 (UMLS CUI [1,1])
SBP
Item
Systolic blood pressure
text
C0871470 (UMLS CUI [1,1])
DBP
Item
Diastolic blood pressure
text
C0428883 (UMLS CUI [1,1])
Item
Diabetes medication?
text
C0011849 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
Code List
Diabetes medication?
CL Item
No (0)
CL Item
Yes (1)
Item
Hypertension medication?
text
C0020538 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
Code List
Hypertension medication?
CL Item
No (0)
CL Item
Yes (1)
Item
Lipid medication?
text
C0585943 (UMLS CUI [1,1])
Code List
Lipid medication?
CL Item
No (0)
CL Item
Yes (1)
Item
Current use of female hormones?
text
C0521116 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C0086287 (UMLS CUI [1,3])
C0019932 (UMLS CUI [1,4])
Code List
Current use of female hormones?
CL Item
No (0)
CL Item
Yes (1)
CONSORTIUM
Item
Consortium name
string
C0027365 (UMLS CUI [1,1])
C1880171 (UMLS CUI [1,2])
COHORT
Item
Cohort name
string
C0599755 (UMLS CUI [1,1])
C0027365 (UMLS CUI [1,2])

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