ID

45057

Description

Principal Investigator: J.H. Warram, Joslin Diabetes Center, Boston, MA, USA MeSH: Diabetic Nephropathies https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000088 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 (dbGaP phs000018 *Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants), GAIN*). The other parents and the remaining cases and controls are available by a separate application process through NIDDK. Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form available at http://www.niddkrepository.org or by contacting the Juvenile Diabetes Research Foundation.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000088

Keywords

Versions (5)
  1. 5/13/22 5/13/22 - Martin Dugas
  2. 5/13/22 5/13/22 - Martin Dugas
  3. 5/20/22 5/20/22 - Dr. Christian Niklas
  4. 8/15/22 8/15/22 - 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

August 15, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000088 Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Inclusion criteria
Description

Elig.phs000088.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
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.phs000088.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0011854
Subject had diabetes diagnosed before age 31
Description

Elig.phs000088.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0001779
Treatment with insulin was instituted within one year of diagnosis
Description

Elig.phs000088.v1.p1.4

Data type

boolean

Alias
UMLS CUI [1,1]
C0745343
UMLS CUI [1,2]
C0808070
UMLS CUI [1,3]
C0205447
UMLS CUI [1,4]
C0439234
UMLS CUI [1,5]
C0011900
Treatment with insulin has been uninterrupted since diagnosis
Description

Elig.phs000088.v1.p1.5

Data type

boolean

Alias
UMLS CUI [1,1]
C0745343
UMLS CUI [1,2]
C3843614
Presence of diabetic nephropathy is diagnosed if: 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.phs000088.v1.p1.6

Data type

boolean

Alias
UMLS CUI [1,1]
C0011881
UMLS CUI [2,1]
C0033687
UMLS CUI [2,2]
C0549178
UMLS CUI [3,1]
C0022661
UMLS CUI [3,2]
C0678226
UMLS CUI [3,3]
C0011854
Absence of diabetic nephropathy is diagnosed if: 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.phs000088.v1.p1.7

Data type

boolean

Alias
UMLS CUI [1,1]
C0011881
UMLS CUI [1,2]
C0332197
UMLS CUI [2,1]
C0001925
UMLS CUI [2,2]
C0205307
UMLS CUI [2,3]
C0549178
UMLS CUI [2,4]
C0011854
UMLS CUI [2,5]
C0872146
UMLS CUI [3,1]
C0003015
UMLS CUI [3,2]
C2003901
*Exclusion criteria*
Description

Elig.phs000088.v1.p1.8

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
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.phs000088.v1.p1.9

Data type

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1299582
UMLS CUI [1,3]
C0558080
Unable to communicate with staff
Description

Elig.phs000088.v1.p1.10

Data type

boolean

Alias
UMLS CUI [1,1]
C0332268
UMLS CUI [1,2]
C2364293
UMLS CUI [1,3]
C0035173
Major psychiatric disorder such as schizophrenia
Description

Elig.phs000088.v1.p1.11

Data type

boolean

Alias
UMLS CUI [1,1]
C0004936
UMLS CUI [1,2]
C0205164
UMLS CUI [2,1]
C0036341
Exclusion in relation to medication
Description

Elig.phs000088.v1.p1.12

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0013227
Any antihypertensive medication for controls
Description

Elig.phs000088.v1.p1.13

Data type

boolean

Alias
UMLS CUI [1,1]
C0003364
UMLS CUI [1,2]
C0009932
Infectious disease
Description

Elig.phs000088.v1.p1.14

Data type

boolean

Alias
UMLS CUI [1,1]
C0009450
Self-reported HIV positivity
Description

Elig.phs000088.v1.p1.15

Data type

boolean

Alias
UMLS CUI [1,1]
C0019699
UMLS CUI [1,2]
C2700446
Active tuberculosis
Description

Elig.phs000088.v1.p1.16

Data type

boolean

Alias
UMLS CUI [1,1]
C2707252
UMLS CUI [1,2]
C0041296
Other kidney disease in cases
Description

Elig.phs000088.v1.p1.17

Data type

boolean

Alias
UMLS CUI [1,1]
C0009488
UMLS CUI [1,2]
C0022658
UMLS CUI [1,3]
C1706256
Alport syndrome
Description

Elig.phs000088.v1.p1.18

Data type

boolean

Alias
UMLS CUI [1,1]
C1567741
Analgesic nephropathy
Description

Elig.phs000088.v1.p1.19

Data type

boolean

Alias
UMLS CUI [1,1]
C1404837
Atheroembolic renal disease
Description

Elig.phs000088.v1.p1.20

Data type

boolean

Alias
UMLS CUI [1,1]
C0022658
UMLS CUI [1,2]
C0035067
Congenital nephrotic syndrome
Description

Elig.phs000088.v1.p1.21

Data type

boolean

Alias
UMLS CUI [1,1]
C0000768
UMLS CUI [1,2]
C0027726
Focal segmental glomerulosclerosis (FSGS)
Description

Elig.phs000088.v1.p1.22

Data type

boolean

Alias
UMLS CUI [1,1]
C1709661
Glomerulonephritis
Description

Elig.phs000088.v1.p1.23

Data type

boolean

Alias
UMLS CUI [1,1]
C0017658
Goodpasture´s syndrome
Description

Elig.phs000088.v1.p1.24

Data type

boolean

Alias
UMLS CUI [1,1]
C0268731
UMLS CUI [1,2]
C0017658
HIV nephropathy
Description

Elig.phs000088.v1.p1.25

Data type

boolean

Alias
UMLS CUI [1,1]
C0019682
UMLS CUI [1,2]
C0022658
IgM mesangial proliferative nephritis
Description

Elig.phs000088.v1.p1.26

Data type

boolean

Alias
UMLS CUI [1,1]
C0020861
UMLS CUI [1,2]
C0027697
UMLS CUI [1,3]
C1514485
Lupus nephritis
Description

Elig.phs000088.v1.p1.27

Data type

boolean

Alias
UMLS CUI [1,1]
C0024143
Kidney cancer
Description

Elig.phs000088.v1.p1.28

Data type

boolean

Alias
UMLS CUI [1,1]
C0022646
UMLS CUI [1,2]
C0006826
IgA nephropathy
Description

Elig.phs000088.v1.p1.29

Data type

boolean

Alias
UMLS CUI [1,1]
C0020835
UMLS CUI [1,2]
C0017658
Polycystic kidney disease
Description

Elig.phs000088.v1.p1.30

Data type

boolean

Alias
UMLS CUI [1,1]
C0022680
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.phs000088.v1.p1.31

Data type

boolean

Alias
UMLS CUI [1,1]
C0042029
UMLS CUI [2,1]
C0205374
UMLS CUI [2,2]
C0680251
Pregnant women (although they may be reconsidered 3 months after delivery)
Description

Elig.phs000088.v1.p1.32

Data type

boolean

Alias
UMLS CUI [1,1]
C0032961
UMLS CUI [2,1]
C0011209
UMLS CUI [2,2]
C1442461
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000088.v1.p1.1
Item
Inclusion criteria
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000088.v1.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
C0011854 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.3
Item
Subject had diabetes diagnosed before age 31
boolean
C0011849 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.4
Item
Treatment with insulin was instituted within one year of diagnosis
boolean
C0745343 (UMLS CUI [1,1])
C0808070 (UMLS CUI [1,2])
C0205447 (UMLS CUI [1,3])
C0439234 (UMLS CUI [1,4])
C0011900 (UMLS CUI [1,5])
Elig.phs000088.v1.p1.5
Item
Treatment with insulin has been uninterrupted since diagnosis
boolean
C0745343 (UMLS CUI [1,1])
C3843614 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.6
Item
Presence of diabetic nephropathy is diagnosed if: 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
C0011881 (UMLS CUI [1,1])
C0033687 (UMLS CUI [2,1])
C0549178 (UMLS CUI [2,2])
C0022661 (UMLS CUI [3,1])
C0678226 (UMLS CUI [3,2])
C0011854 (UMLS CUI [3,3])
Elig.phs000088.v1.p1.7
Item
Absence of diabetic nephropathy is diagnosed if: 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
C0011881 (UMLS CUI [1,1])
C0332197 (UMLS CUI [1,2])
C0001925 (UMLS CUI [2,1])
C0205307 (UMLS CUI [2,2])
C0549178 (UMLS CUI [2,3])
C0011854 (UMLS CUI [2,4])
C0872146 (UMLS CUI [2,5])
C0003015 (UMLS CUI [3,1])
C2003901 (UMLS CUI [3,2])
Elig.phs000088.v1.p1.8
Item
*Exclusion criteria*
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000088.v1.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
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
C0558080 (UMLS CUI [1,3])
Elig.phs000088.v1.p1.10
Item
Unable to communicate with staff
boolean
C0332268 (UMLS CUI [1,1])
C2364293 (UMLS CUI [1,2])
C0035173 (UMLS CUI [1,3])
Elig.phs000088.v1.p1.11
Item
Major psychiatric disorder such as schizophrenia
boolean
C0004936 (UMLS CUI [1,1])
C0205164 (UMLS CUI [1,2])
C0036341 (UMLS CUI [2,1])
Elig.phs000088.v1.p1.12
Item
Exclusion in relation to medication
boolean
C0680251 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.13
Item
Any antihypertensive medication for controls
boolean
C0003364 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.14
Item
Infectious disease
boolean
C0009450 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.15
Item
Self-reported HIV positivity
boolean
C0019699 (UMLS CUI [1,1])
C2700446 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.16
Item
Active tuberculosis
boolean
C2707252 (UMLS CUI [1,1])
C0041296 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.17
Item
Other kidney disease in cases
boolean
C0009488 (UMLS CUI [1,1])
C0022658 (UMLS CUI [1,2])
C1706256 (UMLS CUI [1,3])
Elig.phs000088.v1.p1.18
Item
Alport syndrome
boolean
C1567741 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.19
Item
Analgesic nephropathy
boolean
C1404837 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.20
Item
Atheroembolic renal disease
boolean
C0022658 (UMLS CUI [1,1])
C0035067 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.21
Item
Congenital nephrotic syndrome
boolean
C0000768 (UMLS CUI [1,1])
C0027726 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.22
Item
Focal segmental glomerulosclerosis (FSGS)
boolean
C1709661 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.23
Item
Glomerulonephritis
boolean
C0017658 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.24
Item
Goodpasture´s syndrome
boolean
C0268731 (UMLS CUI [1,1])
C0017658 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.25
Item
HIV nephropathy
boolean
C0019682 (UMLS CUI [1,1])
C0022658 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.26
Item
IgM mesangial proliferative nephritis
boolean
C0020861 (UMLS CUI [1,1])
C0027697 (UMLS CUI [1,2])
C1514485 (UMLS CUI [1,3])
Elig.phs000088.v1.p1.27
Item
Lupus nephritis
boolean
C0024143 (UMLS CUI [1,1])
Elig.phs000088.v1.p1.28
Item
Kidney cancer
boolean
C0022646 (UMLS CUI [1,1])
C0006826 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.29
Item
IgA nephropathy
boolean
C0020835 (UMLS CUI [1,1])
C0017658 (UMLS CUI [1,2])
Elig.phs000088.v1.p1.30
Item
Polycystic kidney disease
boolean
C0022680 (UMLS CUI [1,1])
Elig.phs000088.v1.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
C0042029 (UMLS CUI [1,1])
C0205374 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
Elig.phs000088.v1.p1.32
Item
Pregnant women (although they may be reconsidered 3 months after delivery)
boolean
C0032961 (UMLS CUI [1,1])
C0011209 (UMLS CUI [2,1])
C1442461 (UMLS CUI [2,2])
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