Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes (GoKinD study participants and parents), NIDDK

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.]]>
GoKinD GW Clinics Derived variables SAS code documentationGoKinD Joslin Derived variables SAS code documentationPersonal Information on Proband/RelativeNotification of DeathNotification of Transfer, Remote Site Collection, or Refusal to ParticipateMedical History and Physical ExaminationCurrent Medication FormHistorical Urine Value for Control ProbandsChecklist for Proband/RelativesHOW TO GET STARTED AS A NEW SITE, 1RECRUITMENT AND SCREENING PROCEDURE, 2GUIDELINES FOR OBTAINING INFORMED CONSENT, 3SCREENING BASELINE VISIT, 4QUALITY CONTROL AND INTERNAL MONITORING, 5GOKIND FORMS COMPLETION AND MAILING OF FORMS, 6REIMBURSEMENT, 7LABORATORY SPECIMENS AND THE CENTRAL BIOCHEMISTRY LABORATORY, 8GOKIND DATA AND INFORMATION TRANSFER, 10GoKinD Study Diabetic OffspringGoKinD Study ParentsProtocolGenotyping of the DQA1 gene in the HLA ComplexGenotyping of the HLA-DQB1 GeneSequence-Based Typing of the HLA-DRB 1 geneDetection of the Insulin Gene Hph I Polymorphism using Sequence Specific Oligonucleotides (SSO)CDC Methods for Genotype Determination for the Following Genes:pre-computed by NCBI. Of these trios, 223 are affected and 263 are unaffected. The offspring samples were collected from the Genetics of Kidneys in Diabetes (GoKinD) study (dbGaP phs000018, "Search for Susceptibility Genes for Diabetic Nephropathy in Type 1 Diabetes [GoKinD study participants and parents]"). Parents were enrolled with unknown affection status to form trios. All samples were genotyped by the Genetic Association Information Network (GAIN) genotyping laboratory at the Eli and Edythe L. Broad Institute on the Affymetrix 5.0 500K SNP Array. SNP markers were filtered for parent Hardy-Weinberg disequilibrium (P < 10-4 ), or minor allele frequency (MAF < 1%), or call rate (< 95%), as well as ones with more than 5 Mendelian errors. This resulted in the inclusion of 358298 SNPs. Six unaffected trios were excluded owing to the high familial Mendelian errors (>1%).
]]>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)]]>