ID

45609

Descrição

Principal Investigator: Jose Florez, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and Massachusetts General Hospital, Boston, MA, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001375 The ~52,000 sample Type 2 Diabetes Exome Sequencing project is a collaboration of six consortia with various funding mechanisms that have joined together to investigate genetic variants for type 2 diabetes (T2D) using the largest T2D case/control sample set compiled to date. This includes samples from: - Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) - Genetics of Type 2 Diabetes (GoT2D) - Exome Sequencing Project (ESP) - Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D) - Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCAMP) - Progress in Diabetes Genetics in Youth (ProDIGY) This data generated from the SIGMA Mexico City Diabetes Study was part of the Slim Initiative in Genomic Medicine for the Americas: Type 2 Diabetes (SIGMA T2D), which is an international research consortium funded by the Carlos Slim Foundation that seeks to identify the genetic risk factors for type 2 diabetes (T2D) in Mexico and Latin America and translate those findings into improved treatment and prevention of diabetes. The SIGMA T2D project has sequenced and genotyped more than 13,000 samples from Mexican and Mexican Americans. The individuals were obtained from over 20 cohorts across the 6 consortia that are listed in Table 1. The strategy was to perform deep exome sequencing of individuals, 24,991 with T2D and 24,953 controls, divided among five ancestry groups: Europeans, East Asians, South Asians, American Hispanics, and African Americans. The T2D-GENES, ProDIGY and SIGMA studies, sequencing was performed at the Broad Institute using the Agilent v2 capture reagent or Illumina Rapid Capture on Illumina HiSeq machines. Please note that while we summarize the full sample list in publications and below, two of the cohorts below are not in dbGaP, due to the samples not being consented for deposition. This includes the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) study and Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp) study. The Exome Sequencing Project (ESP) was deposited in dbGaP as part of their initial study and the phs numbers for that project can be found here: https://esp.gs.washington.edu/drupal/dbGaP_Releases table style="width:100%" border="1" captionTable 1. 52,000 sample T2D Case/Control Whole Exome Sequencing Studies/caption tbodytr thAncestry/th thConsortia/th thStudy/th thCountries of Origin/th th# Cases/th th# Controls/th /tr tr tdAfrican American/td tdT2D-GENES Project 1/td tdJackson Heart Study/td tdUS/td td500/td td526/td /tr tr tdAfrican American/td tdT2D-GENES Project 1/td tdWake Forest School of Medicine Study/td tdUS/td td518/td td530/td /tr tr tdAfrican American/td tdESP/td tdExome Sequencing Project (ESP)/td tdUS/td td467/td td1374/td /tr tr tdAfrican American/td tdT2D-GENES Follow up study/td tdBioMe Biobank Program (BioMe)/td tdUS/td td1297/td td1256/td /tr tr tdEast Asian/td tdT2D-GENES Project 1/td tdKorea Association Research Project/td tdKorea/td td526/td td561/td /tr tr tdEast Asian/td tdT2D-GENES Project 1& Follow up Study/td tdSingapore Diabetes Cohort Study; Singapore Prospective Study Program/td tdSingapore (Chinese)/td td1486/td td1568/td /tr tr tdEast Asian/td tdT2D-GENES Follow up study/td tdKorea SNUH/td tdSouth Korea/td td450/td td475/td /tr tr tdEast Asian/td tdT2D-GENES Follow up study/td tdResearch Studies in Hong Kong (Hong Kong)/td tdHong Kong/td td493/td td485/td /tr tr tdEuropean/td tdT2D-GENES Project 1/td tdAshkenazi/td tdUS, Israel/td td506/td td355/td /tr tr tdEuropean/td tdT2D-GENES Project 1/td tdMetabolic Syndrome in Men Study (METSIM)/td tdFinland/td td484/td td498/td /tr tr tdEuropean/td tdGoT2D/td tdFinland-United States Investigation of NIDDM Genetics (FUSION) Study/td tdFinland/td td472/td td476/td /tr tr tdEuropean/td tdGoT2D/td tdKooperative Gesundheitsforschung in der Region Augsburg (KORA)/td tdGermany/td td97/td td90/td /tr tr tdEuropean/td tdGoT2D/td tdUK Type 2 Diabetes Genetics Consortium (UKT2D)/td tdUK/td td322/td td320/td /tr tr tdEuropean/td tdGoT2D/td tdMalmo-Botnia Study/td tdFinland, Sweden/td td478/td td443/td /tr tr tdEuropean/td tdLuCamp/td tdLundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention, and Care (LuCamp)/td tdDenmark/td td997/td td997/td /tr tr tdEuropean/td tdESP/td tdExome Sequencing Project (ESP)/td tdUS/td td390/td td2843/td /tr tr tdEuropean/td tdT2D-GENES Follow up study/td tdGenetics of Diabetes and Audit Research Tayside Study (GoDARTS)/td tdScotland, UK/td td960/td td966/td /tr tr tdEuropean/td tdT2D-GENES Follow up study/td tdFramingham Heart Study (FHS)/td tdUS/td td396/td td596/td /tr tr tdHispanic/td tdT2D-GENES Project 1/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 td218/td /tr tr tdHispanic/td tdT2D-GENES Project 1 & SIGMAv2/td tdStarr County, Texas/td tdUS/td td1762/td td1738/td /tr tr tdHispanic/td tdSIGMAv1/td tdMexico City Diabetes Study/td tdMexico/td td281/td td549/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdMultiethnic Cohort (MEC)/td tdUS/td td1476/td td1443/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdUNAM/INCMNSZ Diabetes Study (UIDS)/td tdMexico/td td1998/td td1977/td /tr tr tdHispanic/td tdSIGMAv1 & v2/td tdDiabetes in Mexico Study (DMS)/td tdMexico/td td1522/td td1546/td /tr tr tdMulti ethnic/td tdProDIGY/td tdTreatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY)/td tdUS/td td3097/td td0/td /tr tr tdMulti ethnic/td tdProDIGY/td tdSEARCH for Diabetes in Youth (SEARCH)/td tdUS/td td553/td td0/td /tr tr tdSouth Asian/td tdT2D-GENES Project 1/td tdLondon Life Sciences Population Study (LOLIPOP)/td tdUK (Indian Asian)/td td531/td td538/td /tr tr tdSouth Asian/td tdT2D-GENES Project 1 & Follow up study/td tdSingapore Indian Eye Study/td tdSingapore (Indian Asian)/td td1640/td td1478/td /tr tr tdSouth Asian/td tdT2D-GENES Follow up study/td tdPakistan Genomic Resource (PGR)/td tdPakistan/td td914/td td932/td /tr /tbody/table

Link

dbGaP-study=phs001375

Palavras-chave

  1. 21/02/2023 21/02/2023 - Chiara Middel
Titular dos direitos

Jose Florez, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA, and Massachusetts General Hospital, Boston, MA, USA

Transferido a

21 de fevereiro de 2023

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs001375 Slim Initiative in Genomic Medicine for the Americas (SIGMA): Mexico City Diabetes Study (MCDS)

This subject phenotype table contains subject IDs, sex, age, diabetes status, BMI, consortium name, ancestry name, cohort name, sample IDs, family IDs, c-peptide, c-peptide level post 2 hour glucose tolerance test, diastolic blood pressure, fasting glucose, fasting insulin, 2-hour glucose, glycated hemoglobin A1c, high-density lipoprotein, height, hip cicumference, homeostatic model assessment for beta cell function, insulin post 2 hour glucose tolerance test, low-density lipoprotein, leptin, systolic blood pressure, total cholesterol, triglycerides, ratio of triglyceride to high-density lipoprotein, waist circumference, waist to hip ratio, adiponectin, creatinine, homeostatic model assessment for insulin resistance, and medication for lipid levels.

pht006522
Descrição

pht006522

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

SUBJECT_ID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2826693
Sex
Descrição

SEX

Tipo de dados

text

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

AGE

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C0008976
Diabetes disease status
Descrição

T2D

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0012634
UMLS CUI [1,3]
C0449438
BMI
Descrição

BMI

Tipo de dados

float

Unidades de medida
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
kg/m2
Consortium name
Descrição

CONSORTIUM

Tipo de dados

string

Alias
UMLS CUI [1,1]
C0027365
UMLS CUI [1,2]
C1880171
Ancestry name
Descrição

ANCESTRY

Tipo de dados

string

Alias
UMLS CUI [1,1]
C3841890
UMLS CUI [1,2]
C0027365
Sample ID
Descrição

SAMPLE_ID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C1299222
Family ID
Descrição

FAMID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C3669174
C-peptide
Descrição

cpep

Tipo de dados

float

Unidades de medida
  • ng/mL
Alias
UMLS CUI [1,1]
C0006558
ng/mL
C-peptide level post 2 hour glucose tolerance test
Descrição

cpep_2hr

Tipo de dados

float

Unidades de medida
  • ng/mL
Alias
UMLS CUI [1,1]
C0006558
UMLS CUI [1,2]
C0029161
ng/mL
Diastolic blood pressure
Descrição

dbp

Tipo de dados

float

Unidades de medida
  • mmHg
Alias
UMLS CUI [1,1]
C0428883
mmHg
Fasting glucose
Descrição

fg

Tipo de dados

float

Unidades de medida
  • mmol/L
Alias
UMLS CUI [1,1]
C0202045
mmol/L
Fasting insulin
Descrição

fi

Tipo de dados

float

Unidades de medida
  • uIU/mL
Alias
UMLS CUI [1,1]
C0015663
UMLS CUI [1,2]
C0202098
uIU/mL
2-hour glucose
Descrição

glu_2hr

Tipo de dados

float

Unidades de medida
  • ng/mL
Alias
UMLS CUI [1,1]
C2238058
ng/mL
Glycated hemoglobin A1c
Descrição

hba1c

Tipo de dados

float

Unidades de medida
  • %
Alias
UMLS CUI [1,1]
C0474680
%
High-density lipoprotein
Descrição

hdl

Tipo de dados

float

Unidades de medida
  • mg/dL
Alias
UMLS CUI [1,1]
C0392885
mg/dL
Height
Descrição

height

Tipo de dados

float

Unidades de medida
  • cm
Alias
UMLS CUI [1,1]
C0005890
cm
Hip cicumference
Descrição

hipc

Tipo de dados

float

Unidades de medida
  • cm
Alias
UMLS CUI [1,1]
C0562350
cm
Homeostatic Model Assessment for Beta Cell Function
Descrição

homab

Tipo de dados

float

Alias
UMLS CUI [1,1]
C1829779
UMLS CUI [1,2]
C4055385
Insulin post 2 hour glucose tolerance test
Descrição

ins_2hr

Tipo de dados

float

Unidades de medida
  • uIU/mL
Alias
UMLS CUI [1,1]
C2238058
UMLS CUI [1,2]
C0029161
UMLS CUI [1,3]
C0202098
uIU/mL
Low-density lipoprotein
Descrição

ldl

Tipo de dados

float

Unidades de medida
  • mg/dL
Alias
UMLS CUI [1,1]
C0202117
mg/dL
Leptin
Descrição

leptin

Tipo de dados

float

Unidades de medida
  • ng/mL
Alias
UMLS CUI [1,1]
C1295176
ng/mL
Systolic blood pressure
Descrição

sbp

Tipo de dados

float

Unidades de medida
  • mmHg
Alias
UMLS CUI [1,1]
C0871470
mmHg
Total cholesterol
Descrição

tchol

Tipo de dados

float

Unidades de medida
  • mg/dL
Alias
UMLS CUI [1,1]
C1445957
mg/dL
Triglycerides
Descrição

tg

Tipo de dados

float

Unidades de medida
  • mg/dL
Alias
UMLS CUI [1,1]
C0202236
mg/dL
Ratio of triglyceride to high-density lipoprotein
Descrição

tg_hdl_ratio

Tipo de dados

float

Alias
UMLS CUI [1,1]
C0456603
UMLS CUI [1,2]
C0202236
UMLS CUI [1,3]
C0392885
Waist circumference
Descrição

waistc

Tipo de dados

float

Unidades de medida
  • cm
Alias
UMLS CUI [1,1]
C0455829
cm
Waist to hip ratio
Descrição

whr

Tipo de dados

float

Alias
UMLS CUI [1,1]
C0205682
Adiponectin
Descrição

adiponectin

Tipo de dados

float

Unidades de medida
  • mg/mL
Alias
UMLS CUI [1,1]
C2700366
mg/mL
Creatinine
Descrição

creatinine

Tipo de dados

float

Unidades de medida
  • mg/dL
Alias
UMLS CUI [1,1]
C0201976
mg/dL
Homeostatic Model Assessment for Insulin Resistance
Descrição

homair

Tipo de dados

float

Alias
UMLS CUI [1,1]
C0021655
UMLS CUI [1,2]
C1829779
Medication for lipid levels
Descrição

lipid_meds

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0585943
Cohort name
Descrição

COHORT

Tipo de dados

string

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

Similar models

This subject phenotype table contains subject IDs, sex, age, diabetes status, BMI, consortium name, ancestry name, cohort name, sample IDs, family IDs, c-peptide, c-peptide level post 2 hour glucose tolerance test, diastolic blood pressure, fasting glucose, fasting insulin, 2-hour glucose, glycated hemoglobin A1c, high-density lipoprotein, height, hip cicumference, homeostatic model assessment for beta cell function, insulin post 2 hour glucose tolerance test, low-density lipoprotein, leptin, systolic blood pressure, total cholesterol, triglycerides, ratio of triglyceride to high-density lipoprotein, waist circumference, waist to hip ratio, adiponectin, creatinine, homeostatic model assessment for insulin resistance, and medication for lipid levels.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht006522
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Study ID
string
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
Not T2D (0)
CL Item
T2D (1)
BMI
Item
BMI
float
C1305855 (UMLS CUI [1,1])
CONSORTIUM
Item
Consortium name
string
C0027365 (UMLS CUI [1,1])
C1880171 (UMLS CUI [1,2])
Item
Ancestry name
string
C3841890 (UMLS CUI [1,1])
C0027365 (UMLS CUI [1,2])
Code List
Ancestry name
CL Item
not applicable (NA)
C1272460 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
FAMID
Item
Family ID
string
C3669174 (UMLS CUI [1,1])
cpep
Item
C-peptide
float
C0006558 (UMLS CUI [1,1])
cpep_2hr
Item
C-peptide level post 2 hour glucose tolerance test
float
C0006558 (UMLS CUI [1,1])
C0029161 (UMLS CUI [1,2])
dbp
Item
Diastolic blood pressure
float
C0428883 (UMLS CUI [1,1])
fg
Item
Fasting glucose
float
C0202045 (UMLS CUI [1,1])
fi
Item
Fasting insulin
float
C0015663 (UMLS CUI [1,1])
C0202098 (UMLS CUI [1,2])
glu_2hr
Item
2-hour glucose
float
C2238058 (UMLS CUI [1,1])
hba1c
Item
Glycated hemoglobin A1c
float
C0474680 (UMLS CUI [1,1])
hdl
Item
High-density lipoprotein
float
C0392885 (UMLS CUI [1,1])
height
Item
Height
float
C0005890 (UMLS CUI [1,1])
hipc
Item
Hip cicumference
float
C0562350 (UMLS CUI [1,1])
homab
Item
Homeostatic Model Assessment for Beta Cell Function
float
C1829779 (UMLS CUI [1,1])
C4055385 (UMLS CUI [1,2])
ins_2hr
Item
Insulin post 2 hour glucose tolerance test
float
C2238058 (UMLS CUI [1,1])
C0029161 (UMLS CUI [1,2])
C0202098 (UMLS CUI [1,3])
ldl
Item
Low-density lipoprotein
float
C0202117 (UMLS CUI [1,1])
leptin
Item
Leptin
float
C1295176 (UMLS CUI [1,1])
sbp
Item
Systolic blood pressure
float
C0871470 (UMLS CUI [1,1])
tchol
Item
Total cholesterol
float
C1445957 (UMLS CUI [1,1])
tg
Item
Triglycerides
float
C0202236 (UMLS CUI [1,1])
tg_hdl_ratio
Item
Ratio of triglyceride to high-density lipoprotein
float
C0456603 (UMLS CUI [1,1])
C0202236 (UMLS CUI [1,2])
C0392885 (UMLS CUI [1,3])
waistc
Item
Waist circumference
float
C0455829 (UMLS CUI [1,1])
whr
Item
Waist to hip ratio
float
C0205682 (UMLS CUI [1,1])
adiponectin
Item
Adiponectin
float
C2700366 (UMLS CUI [1,1])
creatinine
Item
Creatinine
float
C0201976 (UMLS CUI [1,1])
homair
Item
Homeostatic Model Assessment for Insulin Resistance
float
C0021655 (UMLS CUI [1,1])
C1829779 (UMLS CUI [1,2])
Item
Medication for lipid levels
text
C0585943 (UMLS CUI [1,1])
Code List
Medication for lipid levels
CL Item
no (0)
CL Item
yes (1)
COHORT
Item
Cohort name
string
C0599755 (UMLS CUI [1,1])
C0027365 (UMLS CUI [1,2])

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