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Study Description

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.

  • Study Weblink: GoKinD
  • Study Type: Case-Control
  • dbGaP estimated ancestry components using GRAF-pop
  • Number of study subjects that have individual level data available through Authorized Access: 1206

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Inclusion criteria

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:
  • Subject had diabetes diagnosed before age 31
  • Treatment with insulin was instituted within one year of diagnosis
  • Treatment with insulin has been uninterrupted since diagnosis
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:
  • 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.

Exclusion criteria

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
  • Unable to communicate with staff
  • Major psychiatric disorder such as schizophrenia
  • Exclusion in relation to medication
  • Any antihypertensive medication for controls
  • Infectious disease
  • Self-reported HIV positivity
  • Active tuberculosis
  • Other kidney disease in cases
  • Alport syndrome
  • Analgesic nephropathy
  • Atheroembolic renal disease
  • Congenital nephrotic syndrome
  • Focal segmental glomerulosclerosis (FSGS)
  • Glomerulonephritis
  • Goodpasture's syndrome
  • HIV nephropathy
  • IgM mesangial proliferative nephritis
  • Lupus nephritis
  • Kidney cancer
  • IgA nephropathy
  • Polycystic kidney disease
  • 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.)
  • Pregnant women (although they may be reconsidered 3 months after delivery)
Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix Mapping250K_Nsp 262264 33767 Affymetrix 500K Set comprises Mapping250K_Nsp and Mapping250K_Sty Arrays
Whole Genome Genotyping Affymetrix Mapping250K_Sty 238304 33766 Affymetrix 500K Set comprises Mapping250K_Nsp and Mapping250K_Sty Arrays
Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution