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Genetic Markers for Focal Segmental Glomerulosclerosis
This study is currently recruiting patients.
Sponsored by: | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) |
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Information provided by: | Warren G Magnuson Clinical Center (CC) |
Purpose
Glomerulonephritis is a disease which affect the kidneys. Occasionally these diseases can progress to a loss of kidney function in some patients. Glomerulosclerosis or focal segmental glomerulosclerosis (FSGS) is one form of glomerulonephritis.
The cause of FSGS is unknown and often occurs on its own (idiopathic), or it can be associated with HIV (Human Immunodeficiency Virus). FSGS occurs more commonly among black patients than Caucasian or Hispanic patients. Researchers believe that environmental factors may interact with genetic mutations to cause FSGS, at least in some patients.
This study will attempt to identify genetic factors associated with the development of FSGS. The study population will be made up of 600 total subjects divided into 3 groups. Group one will be 200 African-Americans with FSGS. Group two will be 200 African-Americans with HIV but without FSGS. Group three will be 200 non-African-Americans with FSGS.
Study participation requires that researchers obtain 20 ml (2 tubes of blood). The genetic material (DNA) will be prepared from the white blood cells and analyzed. The results of each group will be compared with the results from the other groups to determine if one or more genes predisposes to FSGS. In the long run, studies that demonstrate a genetic basis for FSGS may help us identify patients earlier and may lead to improved therapies.
Condition |
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AIDS Associated Nephropathy Focal Glomerulosclerosis HIV Infections |
MedlinePlus related topics: AIDS; Kidney Diseases
Study Type: Observational
Study Design: Natural History
Expected Total Enrollment: 9999
Study start: April 18, 1994
Focal segmental glomerulosclerosis (FSGS) is a chronic renal disease seen in both an idiopathic form and in association with HIV infection. The prevalence of FSGS is higher within the black population, particularly for HIV-associated FSGS. We hypothesize that the increased risk among the black population is a consequence of the interaction of an environmental factor with one or more disease susceptibility genes. We are studying the following groups
1) African Americans with FSGS
2) other patients with FSGS
3) African Americans with HIV and without kidney disease (controls)
4) African American blood donors (controls)
5) healthy Caucasian controls (controls)
6) relatives of patients with FSGS
We will take three approaches. First, we will test polymorphic candidate genes for differences between racially-matched populations. Second, we will undertake a genome scan, using approximately polymorphic 300 microsatellite markers, in the African American population. Evidence of linkage disequilibrium among these markers will be sought between patients with and without FSGS. Third, for certain mutations we will look for evidence of Mendelian transmission in families.
Eligibility
Genders Eligible for Study: Both
Accepts Healthy Volunteers
Criteria
Location and Contact Information
More Information
Publications
U.S. National Library of Medicine, Contact NLM Customer Service | ||||||||||||||
National Institutes of Health, Department of Health & Human Services | ||||||||||||||
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