Genetic Study on Nephropathy in Type-2 Diabetes

A collection of patients with type-2 diabetes was collected at the Joslin Diabetes Center. Patients were categorized to a group of cases with diabetic nephropathy, and a group of controls with normoalbuminuria. From these groups, 173 cases and 177 controls were randomly selected for a genome-wide association study.

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 350
• Subject Sample Telemetry Report (SSTR)

• BioProject
• BioSample
• MeSH

Inclusion as Participant:

1. Self-reported diabetes mellitus (DM)
2. Age at diagnosis of DM greater than 40, or age at diagnosis between 20 and 40 and no insulin treatment, or age at diagnosis between 20 and 40 and initiation of insulin treatment more than 2 years after diagnosis of DM
3. Absence of non-diabetic kidney disease

Inclusion as Control:

1. Normoalbuminuria
2. CKD Stage 1 or 2
3. Duration of DM of at least 3 years
4. Hemoglobin A1c of at least 6

Inclusion as Case:

1. Proteinuria or End-Stage Renal Disease or Microalbuminuria and CKD Stage 4 or 5

• Primary Phenotype: Diabetic Nephropathies

• Principal Investigator
  • Andrzej Krolewski, MD, PhD. Joslin Diabetes Center, Boston, MA, USA.
• Co-Investigator
  • Josyf Mychaleckyj, MA, DPhil. University of Virginia, Charlottesville, VA, USA.
• Funding Source
  • DK58549-6. National Institutes of Health, Bethesda, MD, USA.