Federal/private partners launch resource for diabetic kidney disease gene studies

12/28/04

The National Institutes of Health (NIH), Juvenile Diabetes Research Foundation (JDRF), and Centers for Disease Control and Prevention (CDC) announced today the availability of the largest single collection of biosamples and data for research on the genetic causes of kidney disease in type 1 diabetes.

The Genetics of Kidneys in Diabetes (GoKinD) collection has nearly 10,000 DNA, serum, plasma and urine samples, plus genetic and clinical data, from more than 1,700 adults with type 1 diabetes in the United States and Canada. Of those, 818 have had diabetes at least 10 years and have developed kidney disease, a common complication of diabetes. The other 893 have had diabetes at least 15 years but do not have kidney disease. Also in the collection are data and samples from 1,096 parents (548 sets).

"GoKinD is a tremendous resource. We're thrilled about the promise it represents," said Rebekah Rasooly, Ph.D., who oversees the project for NIH and directs genetics and genomics programs at NIH's National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). "We fund research all the time, but this kind of project reflects a new way of thinking. GoKinD is a gift that will keep on giving, and we are deeply indebted to the individuals and families who made this invaluable resource possible."

Researchers can apply for DNA, extensive clinical data and some genetic data from GoKinD at www.gokind.org/access; serum, plasma and urine samples will be made available later. Methods of treatment, insulin doses, complications, smoking history and other data have been documented for all GoKinD participants. Also, DNA has been genotyped for genes well-known to predispose to type 1 diabetes. To protect the privacy of patients and families, researchers do not have access to names and other identifying information.

"This study is of exceptional quality and offers a unique opportunity for genetic research," said Patricia Mueller, Ph.D., chief of CDC's diabetes and molecular risk assessment laboratory.

Gathering information and samples of the kind, quality and quantity that individual researchers alone would be unable to collect, GoKinD provides a rich means for learning about the genetics of both kidney disease and type 1 diabetes.

"GoKinD will help us tease out genes linked to kidney disease versus those that are primarily important causes of diabetes itself," said Concepcion R. Nierras, Ph.D., director of research for JDRF.

Both NIH and JDRF will separately consider requests to fund research on GoKinD data and samples. NIH grant applications are at http://grants.nih.gov, and resources for type 1 diabetes research are listed at www.niddk.nih.gov/fund/diabetesspecialfunds/funding.htm. JDRF grant applications are under the research tab at www.jdrf.org.

Once found, genes for susceptibility to kidney disease can be studied to find out what they do, how they do it and how researchers might intervene to prevent the disease or improve treatment. Studies have already linked several genes to susceptibility to type 1 diabetes, but scientists are confident that more genes exist and that other, as yet unknown, genes increase susceptibility to complications such as kidney disease. (Learn more about genetic factors in diabetes at www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=diabetes.chapter.987.)

"These genes alone don't explain the complete genetic risk for diabetes, and little is known about genes for kidney disease or other complications. Yet, there is clearly a genetic risk for complications, because they run in families and among certain populations," said Paul L. Kimmel, M.D., F.A.C.P., a nephrologist working part-time with Rasooly and NIDDK on GoKinD. Kimmel also directs the renal disease and hypertension division at George Washington University Medical Center in Washington, D.C.

Diabetes is the leading cause of kidney failure in the United States. In 2002, treatment of kidney failure cost Medicare and private insurers $25 billion for more than 400,000 people, 40 percent of whom had diabetes. Twenty to 40 percent of people with type 1 diabetes will develop kidney failure by the age of 50, but some develop it before the age of 30.

Type 1 diabetes accounts for up to 10 percent of people diagnosed with diabetes in the United States (up to 1 million people). This form of diabetes usually strikes children and young adults, who need several insulin injections a day or an insulin pump to survive. Insulin, though critical for controlling blood glucose, is no cure. Most people with the disease eventually develop one or more complications, including damage to the heart and blood vessels, eyes, nerves, and kidneys.

NIH, JDRF and CDC collaborated on GoKinD. NIH supported the study through a special fund for type 1 diabetes research established by Congress in 1997 and coordinated by NIDDK. In all, the fund will provide $1.14 billion between fiscal years 1998 and 2008, supplementing funds available for type 1 diabetes research through regular NIH appropriations.

Under JDRF, the Joslin Diabetes Center and the George Washington University (GWU) Biostatistics Center (and its associated clinical centers) each recruited about half the patients and their parents. GWU will also distribute GoKinD data. CDC provided genotyping data for the major type 1 diabetes risk factors, HLA DRB1, DQA1, and DQB1 and the -23 insulin gene single nucleotide polymorphism (SNP). In addition, CDC will distribute samples and conduct research on the collection. Biochemical clinical data were provided by the University of Minnesota.

Investigators and centers that recruited participants and provided clinical and genetic data are:

  • Stephen A. Brietzke, Univ. of Missouri
  • David Brillon, New York Presbyterian Hospital, Cornell Univ.
  • George A. Burghen, Univ. of Tennessee
  • George W. Burke, Univ. of Miami
  • Patricia Cleary, George Washington Univ. Biostatistics Center
  • Suzanne Cordovado and Patricia Mueller, CDC
  • Debra Counts, Univ. of Maryland Medical System
  • James Desemone, Albany Medical Center
  • Steven V. Edelman, Univ. of California San Diego
  • Carla Greenbaum, Virginia Mason Research Center
  • Richard A.Guthrie, Mid-America Diabetes Associates, P.A.
  • Irene Hramiak, St. Joseph's Health Care, Univ. of Western Ontario
  • Mark Johnson, Univ. of North Carolina at Chapel Hill
  • Lois Jovanovic, Sansum Medical Research Center
  • John I. Malone, Univ. of South Florida
  • Michael Mauer and Mike Steffes, Univ. of Minnesota
  • Michael E. May, Vanderbilt Univ. Medical Center
  • Larry Melton, Baylor Univ. Medical Center
  • Mark E. Molitch, Northwestern Univ.
  • Robert E. Ratner, Med-Star Clinical Research Center
  • John Rogus, Adam Smiles and James Warram, Joslin Diabetes Center
  • William L. Sivitz, Univ. of Iowa
  • Maria Szpiech, Medical Univ. of South Carolina
  • Neil H. White, Washington Univ. School of Medicine
  • Bernard Zinman, Mount Sinai Hospital, Univ. of Toronto

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