ID

45212

Description

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

Keywords

Versions (2)
  1. 8/2/22 8/2/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

October 12, 2022

DOI

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License

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

English

Eligibility Criteria

4 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

*Case Definition*: individuals with end stage renal disease (ESRD; defined as those requiring renal replacement therapy or having received a kidney transplant) or persistent proteinuria (>0.5 g/24 hr) developing more than 10 years after the diagnosis of type 1 diabetes. 903 individuals formed the case group.
Description

Case Definition

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C0022661
UMLS CUI [1,3]
C0206074
UMLS CUI [1,4]
C4304779
UMLS CUI [2,1]
C1706256
UMLS CUI [2,2]
C0033687
UMLS CUI [2,3]
C3844145
*Controls Definition*: individuals with absence of DN, defined as persistent normoalbuminuria (2 out of 3 albumin creatinine ratio (ACR) measurements <20 µg of albumin/mg of creatinine) despite duration of T1D for at least 15 years, not taking an antihypertensive medication, and having no history of treatment with ACE inhibitors; 1,001 individuals formed the control group.
Description

Controls Definition

Data type

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C0001925
UMLS CUI [1,4]
C1298908
UMLS CUI [1,5]
C2054151
UMLS CUI [1,6]
C1298908
UMLS CUI [1,7]
C0003015
Additionally, the following variables and covariates were utilized in the analyses in the study and are provided to ensure consistency of findings for dbGaP users with original analyses: Age Age of subject at recruitment, missing value set to -9 AgeDX Age Diagnosis of Type 1 Diabetes, missing value set to -9 BMI Body Mass Index at recruitment, missing values set to -9 Bsite_1 Biochemical site, 0=other, 1=Birmingham (dummy coding) Bsite_2 Biochemical site, 0=other, 1=Dublin (dummy coding) Note: The third site, Belfast, is denoted by Bsite_1=0 and Bsite_2=0 DurT1D Subject's duration of Type 1 Diabetes in years, missing value set to -9 ESRD ESRD status, 1=control, 2=case, missing value set to -9 HBA1C Hemoglobin A1c value at recruitment, missing value set to -9 Kidney DN status, 1=control, 2=case, missing value set to -9 LIPID Lipid lowering drug at recruitment, 0=no, 1=yes, missing value set to -9 Sex Subject's sex, 1=male, 2=female, missing values set to -9 Cohort Cohort identifier variable: "All_Ireland" and "UKGoKinD"
Description

Additionally, the following variables and covariates were utilized in the analyses in the study and are provided to ensure consistency of findings for dbGaP users with original analyses

Data type

boolean

Alias
UMLS CUI [1,1]
C0814882
UMLS CUI [1,2]
C0001779
UMLS CUI [1,3]
C1305855
UMLS CUI [1,4]
C5202576
UMLS CUI [1,5]
C0019018
UMLS CUI [1,6]
C0022658
UMLS CUI [1,7]
C0585943
UMLS CUI [1,8]
C0079399
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Similar models

Eligibility Criteria

4 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Case Definition
Item
*Case Definition*: individuals with end stage renal disease (ESRD; defined as those requiring renal replacement therapy or having received a kidney transplant) or persistent proteinuria (>0.5 g/24 hr) developing more than 10 years after the diagnosis of type 1 diabetes. 903 individuals formed the case group.
boolean
C1706256 (UMLS CUI [1,1])
C0022661 (UMLS CUI [1,2])
C0206074 (UMLS CUI [1,3])
C4304779 (UMLS CUI [1,4])
C1706256 (UMLS CUI [2,1])
C0033687 (UMLS CUI [2,2])
C3844145 (UMLS CUI [2,3])
Controls Definition
Item
*Controls Definition*: individuals with absence of DN, defined as persistent normoalbuminuria (2 out of 3 albumin creatinine ratio (ACR) measurements <20 µg of albumin/mg of creatinine) despite duration of T1D for at least 15 years, not taking an antihypertensive medication, and having no history of treatment with ACE inhibitors; 1,001 individuals formed the control group.
boolean
C0009932 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C0001925 (UMLS CUI [1,3])
C1298908 (UMLS CUI [1,4])
C2054151 (UMLS CUI [1,5])
C1298908 (UMLS CUI [1,6])
C0003015 (UMLS CUI [1,7])
Additionally, the following variables and covariates were utilized in the analyses in the study and are provided to ensure consistency of findings for dbGaP users with original analyses
Item
Additionally, the following variables and covariates were utilized in the analyses in the study and are provided to ensure consistency of findings for dbGaP users with original analyses: Age Age of subject at recruitment, missing value set to -9 AgeDX Age Diagnosis of Type 1 Diabetes, missing value set to -9 BMI Body Mass Index at recruitment, missing values set to -9 Bsite_1 Biochemical site, 0=other, 1=Birmingham (dummy coding) Bsite_2 Biochemical site, 0=other, 1=Dublin (dummy coding) Note: The third site, Belfast, is denoted by Bsite_1=0 and Bsite_2=0 DurT1D Subject's duration of Type 1 Diabetes in years, missing value set to -9 ESRD ESRD status, 1=control, 2=case, missing value set to -9 HBA1C Hemoglobin A1c value at recruitment, missing value set to -9 Kidney DN status, 1=control, 2=case, missing value set to -9 LIPID Lipid lowering drug at recruitment, 0=no, 1=yes, missing value set to -9 Sex Subject's sex, 1=male, 2=female, missing values set to -9 Cohort Cohort identifier variable: "All_Ireland" and "UKGoKinD"
boolean
C0814882 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C1305855 (UMLS CUI [1,3])
C5202576 (UMLS CUI [1,4])
C0019018 (UMLS CUI [1,5])
C0022658 (UMLS CUI [1,6])
C0585943 (UMLS CUI [1,7])
C0079399 (UMLS CUI [1,8])
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