Role of Donor Genetics and Recipient Genetics in Kidney Transplant Outcomes

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: June 11, 2010
Last updated: August 1, 2014
Last verified: June 2014


- Genetic variation in a particular chromosome is a major contributor to the increased risk for kidney disease that is common in people of African descent, although the specific gene, mutations, and other aspects of the variations remain to be determined. By studying the outcomes of kidney transplant in donors and recipients of African descent, researchers hope to better understand the effects of this genetic variation on the success of kidney transplants.


- To examine possible connections between genetic variations and kidney transplant outcomes for donors and recipients.


  • < TAB> Participants in kidney transplant where both donor and recipient were of black African descent.
  • < TAB> Eligible transplants include both living donor and deceased donor.


  • The study will involve one visit of up to 8 hours.
  • All participants will provide a detailed personal and family medical history.
  • All participants will provide blood and urine samples, including a 24-hour urine collection, to test kidney function and collect material for genetic testing.
  • Donor participants will also have a magnetic resonance imaging (MRI) scan of their remaining kidney.

Kidney Disease
Kidney Transplantation
Kidney Failure, Chronic

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Role of Donor Genetics and Recipient Genetics in Kidney Transplant Outcomes

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 600
Study Start Date: May 2010
Detailed Description:

Genetic variation in the region of MYH9, encoding non-muscle myosin IIA heavy chain, located on chromosome 22, is a major contributor to the increased risk for kidney disease that characterizes African descent populations, although the specific gene, causative mutations, and the molecular and cellular mechanisms remain to be determined. We propose to study the role of MYH9 region genetic variation, as well as other genes, in renal transplant, including the effect of donor genotype on recipient outcomes and on donor outcomes. Additional exploratory studies will address 1) whether variation in other donor genes might contribute to donor and recipient outcomes, which we may address with candidate gene studies or a genome-wide association study and 2) whether recipient genotype contributes to recipient outcomes, which we will address in similar ways. In separate but related studies, we will work with various collaborators who pursuing similar question under research protocols that they have generated and for which they have local IRB approvals. We will receive from these collaborators materials for preparation of DNA, from which we will genotype APOL1 and other genes known or hypothesized to be related to donor and recipient transplant outcomes


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

We will study 300 African American kidney transplant dyads.


  1. African descent donor and African descent recipient
  2. Kidney transplant performed Jan 1995 - Dec 2006.
  3. First kidney transplant
  4. Kidney only transplant (excluding transplant of any other organ at any other time).


  1. We will exclude donors whose kidneys were used in transplants in which two organs were transplanted, e.g. pancreas and kidney, either simultaneously or at separate times. We will exclude donors whose kidneys were used in second or subsequent transplants. Rationale: dual organ transplants and serial transplants are more complicated clinical situations and renal allograft survival may be shorter and thus not comparable with other kidney transplants.
  2. We will exclude recipients who had HIV, hepatitis B or hepatitis C infection diagnosed either before or after the kidney transplant.
  3. Children
  4. Pregnant women will be excluded but invited to participate after delivery. The rationale is the renal function is altered during pregnancy
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01143532

Contact: Cheryl Winkler, Ph.D. (301) 846-5747
Contact: Jeffrey B Kopp, M.D. (301) 594-3403

United States, Maryland
University of Maryland, Baltimore Recruiting
Baltimore, Maryland, United States, 21201-1595
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Walter Reed National Medical Center Recruiting
Bethesda, Maryland, United States, 20301
United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109-0624
Henry Ford Health Systems Recruiting
Detroit, Michigan, United States, 48202
Wayne State University Hutzel Hospital Recruiting
Detroit, Michigan, United States, 48201
Sponsors and Collaborators
Principal Investigator: Jeffrey B Kopp, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  More Information

Additional Information:
Publications: Identifier: NCT01143532     History of Changes
Other Study ID Numbers: 100135, 10-DK-0135
Study First Received: June 11, 2010
Last Updated: August 1, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Chronic Kidney Disease
Focal Segmental Glomerulosclerosis
Kidney Disease
Kidney Transplant

Additional relevant MeSH terms:
Kidney Diseases
Kidney Failure, Chronic
Renal Insufficiency
Renal Insufficiency, Chronic
Urologic Diseases processed this record on October 23, 2014