ID

45780

Beschreibung

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

Stichworte

  1. 20.06.23 20.06.23 - Chiara Middel
Rechteinhaber

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

Hochgeladen am

20. Juni 2023

DOI

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Lizenz

Creative Commons BY 4.0

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

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

pht005616
Beschreibung

pht005616

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

SUBJECT_ID

Datentyp

text

Alias
UMLS CUI [1,1]
C2826693
Sex
Beschreibung

SEX

Datentyp

text

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

AGE

Datentyp

text

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

T2D

Datentyp

text

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

AOD

Datentyp

text

Maßeinheiten
  • Years
Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C1828181
UMLS CUI [1,3]
C0040223
UMLS CUI [1,4]
C0008976
Years
Fasting glucose
Beschreibung

FAST_GLU

Datentyp

text

Maßeinheiten
  • mmol/l
Alias
UMLS CUI [1,1]
C0202045
mmol/l
Fasting insulin
Beschreibung

FAST_INS

Datentyp

text

Maßeinheiten
  • mU/l
Alias
UMLS CUI [1,1]
C0015663
UMLS CUI [1,2]
C0021641
mU/l
HbA1C
Beschreibung

HBA1C

Datentyp

text

Maßeinheiten
  • fraction, %
Alias
UMLS CUI [1,1]
C0474680
fraction, %
Creatinine
Beschreibung

CREATININE

Datentyp

text

Maßeinheiten
  • mmol/l
Alias
UMLS CUI [1,1]
C0010294
mmol/l
Adiponectin
Beschreibung

ADIPONECTIN

Datentyp

text

Maßeinheiten
  • mg/ml
Alias
UMLS CUI [1,1]
C2700366
mg/ml
Total cholesterol
Beschreibung

CHOL

Datentyp

text

Maßeinheiten
  • mmol/l
Alias
UMLS CUI [1,1]
C1445957
mmol/l
LDL cholesterol
Beschreibung

LDL

Datentyp

text

Maßeinheiten
  • mmol/l
Alias
UMLS CUI [1,1]
C0428474
mmol/l
HDL cholesterol
Beschreibung

HDL

Datentyp

text

Maßeinheiten
  • mmol/l
Alias
UMLS CUI [1,1]
C0428472
mmol/l
Triglycerides
Beschreibung

TG

Datentyp

text

Maßeinheiten
  • mmol/l
Alias
UMLS CUI [1,1]
C0202236
mmol/l
Height
Beschreibung

HEIGHT

Datentyp

text

Maßeinheiten
  • cm
Alias
UMLS CUI [1,1]
C0489786
cm
Weight
Beschreibung

WEIGHT

Datentyp

text

Maßeinheiten
  • kg
Alias
UMLS CUI [1,1]
C0005910
kg
BMI
Beschreibung

BMI

Datentyp

text

Maßeinheiten
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
kg/m2
Hip circumference
Beschreibung

HIPC

Datentyp

text

Maßeinheiten
  • cm
Alias
UMLS CUI [1,1]
C0562350
cm
Waist circumference
Beschreibung

WAISTC

Datentyp

text

Maßeinheiten
  • cm
Alias
UMLS CUI [1,1]
C0455829
cm
Systolic blood pressure
Beschreibung

SBP

Datentyp

text

Maßeinheiten
  • mmHg
Alias
UMLS CUI [1,1]
C0871470
mmHg
Diastolic blood pressure
Beschreibung

DBP

Datentyp

text

Maßeinheiten
  • mmHg
Alias
UMLS CUI [1,1]
C0428883
mmHg
Diabetes medication?
Beschreibung

DIABMEDS

Datentyp

text

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

BPMEDS

Datentyp

text

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

LIPIDMEDS

Datentyp

text

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

CONSORTIUM

Datentyp

string

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

COHORT

Datentyp

string

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

ANCESTRY

Datentyp

string

Alias
UMLS CUI [1,1]
C3841890

Ähnliche Modelle

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

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht005616
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])
C0449438 (UMLS CUI [1,2])
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])
C0040223 (UMLS CUI [1,3])
C0008976 (UMLS CUI [1,4])
FAST_GLU
Item
Fasting glucose
text
C0202045 (UMLS CUI [1,1])
FAST_INS
Item
Fasting insulin
text
C0015663 (UMLS CUI [1,1])
C0021641 (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
C0489786 (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])
ANCESTRY
Item
Ancestry
string
C3841890 (UMLS CUI [1,1])

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