ID

45783

Beschrijving

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

Trefwoorden

  1. 21-06-23 21-06-23 - Chiara Middel
Houder van rechten

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

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21 juni 2023

DOI

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Licentie

Creative Commons BY 4.0

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

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.

pht005612
Beschrijving

pht005612

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

SUBJECT_ID

Datatype

text

Alias
UMLS CUI [1,1]
C2826693
Sex
Beschrijving

SEX

Datatype

text

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

AGE

Datatype

text

Maateenheden
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C0008976
Years
Diabetes disease status
Beschrijving

T2D

Datatype

text

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0012634
UMLS CUI [1,3]
C0449438
Fasting glucose
Beschrijving

FAST_GLU

Datatype

text

Maateenheden
  • mmol/l
Alias
UMLS CUI [1,1]
C0428568
mmol/l
Fasting insulin
Beschrijving

FAST_INS

Datatype

text

Maateenheden
  • mU/l
Alias
UMLS CUI [1,1]
C0015663
UMLS CUI [1,2]
C0202098
mU/l
HbA1C
Beschrijving

HBA1C

Datatype

text

Maateenheden
  • fraction, %
Alias
UMLS CUI [1,1]
C0474680
fraction, %
Creatinine
Beschrijving

CREATININE

Datatype

text

Maateenheden
  • mmol/l
Alias
UMLS CUI [1,1]
C0010294
mmol/l
Total cholesterol
Beschrijving

CHOL

Datatype

text

Maateenheden
  • mmol/l
Alias
UMLS CUI [1,1]
C1445957
mmol/l
LDL cholesterol
Beschrijving

LDL

Datatype

text

Maateenheden
  • mmol/l
Alias
UMLS CUI [1,1]
C0428474
mmol/l
HDL cholesterol
Beschrijving

HDL

Datatype

text

Maateenheden
  • mmol/l
Alias
UMLS CUI [1,1]
C0428472
mmol/l
Triglycerides
Beschrijving

TG

Datatype

text

Maateenheden
  • mmol/l
Alias
UMLS CUI [1,1]
C0202236
mmol/l
Height
Beschrijving

HEIGHT

Datatype

text

Maateenheden
  • cm
Alias
UMLS CUI [1,1]
C0005890
cm
Weight
Beschrijving

WEIGHT

Datatype

text

Maateenheden
  • kg
Alias
UMLS CUI [1,1]
C0005910
kg
BMI
Beschrijving

BMI

Datatype

text

Maateenheden
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
kg/m2
Hip circumference
Beschrijving

HIPC

Datatype

text

Maateenheden
  • cm
Alias
UMLS CUI [1,1]
C0562350
cm
Waist circumference
Beschrijving

WAISTC

Datatype

text

Maateenheden
  • cm
Alias
UMLS CUI [1,1]
C0455829
cm
Systolic blood pressure
Beschrijving

SBP

Datatype

text

Maateenheden
  • mmHg
Alias
UMLS CUI [1,1]
C0871470
mmHg
Diastolic blood pressure
Beschrijving

DBP

Datatype

text

Maateenheden
  • mmHg
Alias
UMLS CUI [1,1]
C0428883
mmHg
Diabetes medication?
Beschrijving

DIABMEDS

Datatype

text

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

BPMEDS

Datatype

text

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

LIPIDMEDS

Datatype

text

Alias
UMLS CUI [1,1]
C0585943
Consortium name
Beschrijving

CONSORTIUM

Datatype

string

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

COHORT

Datatype

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)
Datatype
Alias
Item Group
pht005612
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)
FAST_GLU
Item
Fasting glucose
text
C0428568 (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])
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)
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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