ID

45212

Descripción

Principal Investigator: Joel Hirschhorn, Broad Institute and Children's Hospital Boston, Boston, MA, USA MeSH: Diabetic Nephropathy,Kidney Failure, Chronic,Albuminuria,Diabetes Mellitus, Type 1,Diabetes Complications https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000389 Diabetic kidney disease, or diabetic nephropathy (DN), is one of the leading causes of end-stage renal disease in the United States and worldwide. DN is a common complication of long-standing type 1 and type 2 diabetes. The clinical course is characterized by development of proteinuria and gradual loss of kidney function. Although existing treatments that decrease proteinuria have been shown to moderately abate progression of diabetic kidney disease, many affected patients, who do not die from cardiovascular disease, go on to develop terminal renal failure, necessitating costly renal replacement therapies, such as dialysis and renal transplantation. Type 1 diabetes (T1D) can have its onset in childhood and affected individuals often develop end-stage renal disease in early adulthood, leading to further loss of quality of life. The genetic basis of the disease is not well understood. The GENIE (*GE*netics of *N*ephropathy an *I*nternational *E*ffort) consortium was initiated to perform the most comprehensive and well powered DN susceptibility genome wide association study (GWAS) analysis to date, using the largest collection of type 1 diabetics with and without kidney disease across four study cohorts. The UK-ROI samples were genotyped as part of this project. *UK-ROI Sample Description* The UK-ROI collection consists of samples derived from the Republic of Ireland (Dr. Catherine Godson, PI, at University College, Dublin, Ireland) and the United Kingdom (Warren 3 and Genetics of Kidneys in Diabetes UK, *UK GoKinD*, Dr. Alexander P. Maxwell, PI, at Queen's University of Belfast, UK). All study subjects met the inclusion criteria: white individuals with T1D, diagnosed before 31 years of age, whose parents and grandparents were born in the British Isles.

Link

dbGaP study = phs000389

Palabras clave

Versiones (2)
  1. 2/8/22 2/8/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Joel Hirschhorn, Broad Institute and Children's Hospital Boston, Boston, MA, USA

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0
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dbGaP phs000389 GENIE UK-ROI Diabetic Nephropathy GWAS

Inglés

The dataset provides information about case/control (diabetic nephropathy present [case]/absent [control]) and ESRD (End Stage Renal Disease) status of subjects, HbA1c levels, duration of diabetes type 1, use of lipid-lowering medication and general sociodemographic information.

4 formularios  
pht002379
Descripción

pht002379

De-identified Subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Diabetic Nephropathy (DN) status
Descripción

Kidney

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0011881
End-stage Renal Disease (ESRD) status
Descripción

ESRD

Tipo de datos

text

Alias
UMLS CUI [1,1]
C2316810
Age of subject at recruitment
Descripción

Age

Tipo de datos

text

Unidades de medida
  • Years
Alias
UMLS CUI [1,1]
C0001779
Age of Diagnosis of Type 1 Diabetes
Descripción

Agedx

Tipo de datos

text

Unidades de medida
  • Years
Alias
UMLS CUI [1,1]
C2316983
UMLS CUI [1,2]
C0011849
UMLS CUI [1,3]
C0441729
Subject's duration of Type 1 Diabetes in years
Descripción

DurT1D

Tipo de datos

text

Unidades de medida
  • Years
Alias
UMLS CUI [1,1]
C0449238
UMLS CUI [1,2]
C0011849
UMLS CUI [1,3]
C0441729
Subject's sex
Descripción

Sex

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399
Biochemical site 1 (dummy coding)
Descripción

Bsite_1

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0205474
UMLS CUI [1,2]
C0205145
Biochemical site 2 (dummy coding)
Descripción

Bsite_2

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0205474
UMLS CUI [1,2]
C0205145
Lipid-lowering drug use at recruitment
Descripción

LIPID

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0585943
Body Mass Index at recruitment
Descripción

BMI

Tipo de datos

float

Unidades de medida
  • Kg/m2
Alias
UMLS CUI [1,1]
C1305855
Kg/m2
Hemoglobin A1c value at recruitment
Descripción

HBA1C

Tipo de datos

float

Unidades de medida
  • %
Alias
UMLS CUI [1,1]
C0474680
%
Cohort identifier variable
Descripción

Cohort

Tipo de datos

string

Alias
UMLS CUI [1,1]
C3274646
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Similar models

The dataset provides information about case/control (diabetic nephropathy present [case]/absent [control]) and ESRD (End Stage Renal Disease) status of subjects, HbA1c levels, duration of diabetes type 1, use of lipid-lowering medication and general sociodemographic information.

4 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht002379
SUBJID
Item
De-identified Subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Diabetic Nephropathy (DN) status
text
C0011881 (UMLS CUI [1,1])
Kidney
Code List
Diabetic Nephropathy (DN) status
CL Item
Missing (-9)
CL Item
Control (1)
CL Item
Case (2)
Item
End-stage Renal Disease (ESRD) status
text
C2316810 (UMLS CUI [1,1])
ESRD
Code List
End-stage Renal Disease (ESRD) status
CL Item
Missing (-9)
CL Item
DN control (1)
CL Item
ESRD case (2)
Item
Age of subject at recruitment
text
C0001779 (UMLS CUI [1,1])
Age
Code List
Age of subject at recruitment
CL Item
Missing (-9)
Item
Age of Diagnosis of Type 1 Diabetes
text
C2316983 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0441729 (UMLS CUI [1,3])
Agedx
Code List
Age of Diagnosis of Type 1 Diabetes
CL Item
Missing (-9)
Item
Subject's duration of Type 1 Diabetes in years
text
C0449238 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0441729 (UMLS CUI [1,3])
DurT1D
Code List
Subject's duration of Type 1 Diabetes in years
CL Item
Missing (-9)
Item
Subject's sex
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Subject's sex
CL Item
Missing (-9)
CL Item
Male (1)
CL Item
Female (2)
Item
Biochemical site 1 (dummy coding)
text
C0205474 (UMLS CUI [1,1])
C0205145 (UMLS CUI [1,2])
Bsite_1
Code List
Biochemical site 1 (dummy coding)
CL Item
Missing (-9)
CL Item
Other (=Belfast if Bsite_2 =0) (0)
CL Item
Birmingham (1)
Item
Biochemical site 2 (dummy coding)
text
C0205474 (UMLS CUI [1,1])
C0205145 (UMLS CUI [1,2])
Bsite_2
Code List
Biochemical site 2 (dummy coding)
CL Item
Missing (-9)
CL Item
Other (=Belfast if Bsite_1 =0) (0)
CL Item
Dublin (1)
Item
Lipid-lowering drug use at recruitment
text
C0585943 (UMLS CUI [1,1])
LIPID
Code List
Lipid-lowering drug use at recruitment
CL Item
Missing (-9)
CL Item
No (0)
CL Item
Yes (1)
BMI
Item
Body Mass Index at recruitment
float
C1305855 (UMLS CUI [1,1])
HBA1C
Item
Hemoglobin A1c value at recruitment
float
C0474680 (UMLS CUI [1,1])
Cohort
Item
Cohort identifier variable
string
C3274646 (UMLS CUI [1,1])
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