ID

44966

Description

Principal Investigator: J.H. Warram, Joslin Diabetes Center, Boston, MA, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000018 Genetics of Kidneys in Diabetes (GoKinD) study is an initiative aimed at identifying susceptibility genes for diabetic nephropathy in type 1 diabetes. A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes. Those who met additional entry criteria and consented to participate were enrolled. When possible, both parents were also enrolled to form family trios. Altogether, GoKinD includes 3043 participants comprising 931 cases, 944 singletons, 268 pairs of parents of cases, and 316 pairs of parents of control. Accessible as a GAIN database are 905 of the cases, 890 of the controls, 10 pairs of parents of cases and 10 pairs of parents of controls. The other parents and the remaining cases and controls are available by a separate application process through NIDDK (dbGaP phs000088 *Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK*). Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form available at Juvenile Diabetes Research Foundation. *Consent groups and participant set* - Diabetic complications only (DCO): 1825 (904 cases, 881 controls, 40 others)

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000018

Keywords

  1. 5/12/22 5/12/22 - Martin Dugas
  2. 5/12/22 5/12/22 - Martin Dugas
  3. 5/20/22 5/20/22 - Dr. Christian Niklas
  4. 6/3/22 6/3/22 - Dr. Christian Niklas
  5. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

J.H. Warram, Joslin Diabetes Center, Boston, MA, USA

Uploaded on

May 20, 2022

DOI

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License

Creative Commons BY-NC 4.0

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dbGaP phs000018 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN

Eligibility Criteria

Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

*Inclusion criteria*
Description

Elig.phs000018.v2.p1.1

Data type

boolean

Probands for this data collection must have type 1 diabetes and either presence or absence of diabetic nephropathy according to the following definitions: Type 1 diabetes is diagnosed if:
Description

Elig.phs000018.v2.p1.2

Data type

boolean

Subject had diabetes diagnosed before age 31
Description

Elig.phs000018.v2.p1.3

Data type

boolean

Treatment with insulin was instituted within one year of diagnosis
Description

Elig.phs000018.v2.p1.4

Data type

boolean

Treatment with insulin has been uninterrupted since diagnosis Presence of diabetic nephropathy is diagnosed if:
Description

Elig.phs000018.v2.p1.5

Data type

boolean

Subject with diabetes for at least 10 years has persistent proteinuria or ESRD (not due to condition other than diabetes). Persistent proteinuria is defined as at least 2 of 3 tests positive for albuminuria (at least 1 month apart), i.e., dipstick (Albustix or Multistix) at least 1+ or ACR value exceeding 300 μg albumin/mg of urine creatinine. Absence of diabetic nephropathy is diagnosed if:
Description

Elig.phs000018.v2.p1.6

Data type

boolean

Subject has persistent normoalbuminuria despite duration of type 1 diabetes for at least 15 years and has never been treated with ACE inhibitors. Persistent normoalbuminuria is defined as at least 2 of 3 ACR measurements (at least 1 month apart) in random urine specimen being less than 20 μg of albumin/mg of creatinine. If 3 ACR measurements are needed, the highest must also be less than 40 μg of albumin/mg of creatinine.
Description

Elig.phs000018.v2.p1.7

Data type

boolean

*Exclusion criteria*
Description

Elig.phs000018.v2.p1.8

Data type

boolean

Individuals will be excluded from the study if they do not meet the inclusion criteria described above or if any of the following exclusion criteria are met: Unable or unwilling to give informed consent
Description

Elig.phs000018.v2.p1.9

Data type

boolean

Unable to communicate with staff
Description

Elig.phs000018.v2.p1.10

Data type

boolean

Major psychiatric disorder such as schizophrenia
Description

Elig.phs000018.v2.p1.11

Data type

boolean

Exclusion in relation to medication
Description

Elig.phs000018.v2.p1.12

Data type

boolean

Any antihypertensive medication for controls
Description

Elig.phs000018.v2.p1.13

Data type

boolean

Infectious disease
Description

Elig.phs000018.v2.p1.14

Data type

boolean

Self-reported HIV positivity
Description

Elig.phs000018.v2.p1.15

Data type

boolean

Active tuberculosis
Description

Elig.phs000018.v2.p1.16

Data type

boolean

Other kidney disease in cases
Description

Elig.phs000018.v2.p1.17

Data type

boolean

Alport syndrome
Description

Elig.phs000018.v2.p1.18

Data type

boolean

Analgesic nephropathy
Description

Elig.phs000018.v2.p1.19

Data type

boolean

Atheroembolic renal disease
Description

Elig.phs000018.v2.p1.20

Data type

boolean

Congenital nephrotic syndrome
Description

Elig.phs000018.v2.p1.21

Data type

boolean

Focal segmental glomerulosclerosis (FSGS)
Description

Elig.phs000018.v2.p1.22

Data type

boolean

Glomerulonephritis
Description

Elig.phs000018.v2.p1.23

Data type

boolean

Goodpasture's syndrome
Description

Elig.phs000018.v2.p1.24

Data type

boolean

HIV nephropathy
Description

Elig.phs000018.v2.p1.25

Data type

boolean

IgM mesangial proliferative nephritis
Description

Elig.phs000018.v2.p1.26

Data type

boolean

Lupus nephritis
Description

Elig.phs000018.v2.p1.27

Data type

boolean

Kidney cancer
Description

Elig.phs000018.v2.p1.28

Data type

boolean

IgA nephropathy
Description

Elig.phs000018.v2.p1.29

Data type

boolean

Polycystic kidney disease
Description

Elig.phs000018.v2.p1.30

Data type

boolean

Urinary tract infection (Note: infectious processes such as cystitis and urinary tract infections do not represent a permanent exclusion. Patients may be recontacted or asked to send a supplemental urine sample at a later date.)
Description

Elig.phs000018.v2.p1.31

Data type

boolean

Pregnant women (although they may be reconsidered 3 months after delivery)
Description

Elig.phs000018.v2.p1.32

Data type

boolean

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000018.v2.p1.1
Item
*Inclusion criteria*
boolean
Elig.phs000018.v2.p1.2
Item
Probands for this data collection must have type 1 diabetes and either presence or absence of diabetic nephropathy according to the following definitions: Type 1 diabetes is diagnosed if:
boolean
Elig.phs000018.v2.p1.3
Item
Subject had diabetes diagnosed before age 31
boolean
Elig.phs000018.v2.p1.4
Item
Treatment with insulin was instituted within one year of diagnosis
boolean
Elig.phs000018.v2.p1.5
Item
Treatment with insulin has been uninterrupted since diagnosis Presence of diabetic nephropathy is diagnosed if:
boolean
Elig.phs000018.v2.p1.6
Item
Subject with diabetes for at least 10 years has persistent proteinuria or ESRD (not due to condition other than diabetes). Persistent proteinuria is defined as at least 2 of 3 tests positive for albuminuria (at least 1 month apart), i.e., dipstick (Albustix or Multistix) at least 1+ or ACR value exceeding 300 μg albumin/mg of urine creatinine. Absence of diabetic nephropathy is diagnosed if:
boolean
Elig.phs000018.v2.p1.7
Item
Subject has persistent normoalbuminuria despite duration of type 1 diabetes for at least 15 years and has never been treated with ACE inhibitors. Persistent normoalbuminuria is defined as at least 2 of 3 ACR measurements (at least 1 month apart) in random urine specimen being less than 20 μg of albumin/mg of creatinine. If 3 ACR measurements are needed, the highest must also be less than 40 μg of albumin/mg of creatinine.
boolean
Elig.phs000018.v2.p1.8
Item
*Exclusion criteria*
boolean
Elig.phs000018.v2.p1.9
Item
Individuals will be excluded from the study if they do not meet the inclusion criteria described above or if any of the following exclusion criteria are met: Unable or unwilling to give informed consent
boolean
Elig.phs000018.v2.p1.10
Item
Unable to communicate with staff
boolean
Elig.phs000018.v2.p1.11
Item
Major psychiatric disorder such as schizophrenia
boolean
Elig.phs000018.v2.p1.12
Item
Exclusion in relation to medication
boolean
Elig.phs000018.v2.p1.13
Item
Any antihypertensive medication for controls
boolean
Elig.phs000018.v2.p1.14
Item
Infectious disease
boolean
Elig.phs000018.v2.p1.15
Item
Self-reported HIV positivity
boolean
Elig.phs000018.v2.p1.16
Item
Active tuberculosis
boolean
Elig.phs000018.v2.p1.17
Item
Other kidney disease in cases
boolean
Elig.phs000018.v2.p1.18
Item
Alport syndrome
boolean
Elig.phs000018.v2.p1.19
Item
Analgesic nephropathy
boolean
Elig.phs000018.v2.p1.20
Item
Atheroembolic renal disease
boolean
Elig.phs000018.v2.p1.21
Item
Congenital nephrotic syndrome
boolean
Elig.phs000018.v2.p1.22
Item
Focal segmental glomerulosclerosis (FSGS)
boolean
Elig.phs000018.v2.p1.23
Item
Glomerulonephritis
boolean
Elig.phs000018.v2.p1.24
Item
Goodpasture's syndrome
boolean
Elig.phs000018.v2.p1.25
Item
HIV nephropathy
boolean
Elig.phs000018.v2.p1.26
Item
IgM mesangial proliferative nephritis
boolean
Elig.phs000018.v2.p1.27
Item
Lupus nephritis
boolean
Elig.phs000018.v2.p1.28
Item
Kidney cancer
boolean
Elig.phs000018.v2.p1.29
Item
IgA nephropathy
boolean
Elig.phs000018.v2.p1.30
Item
Polycystic kidney disease
boolean
Elig.phs000018.v2.p1.31
Item
Urinary tract infection (Note: infectious processes such as cystitis and urinary tract infections do not represent a permanent exclusion. Patients may be recontacted or asked to send a supplemental urine sample at a later date.)
boolean
Elig.phs000018.v2.p1.32
Item
Pregnant women (although they may be reconsidered 3 months after delivery)
boolean

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